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Gene: Chsy3 MGI:1926173

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Gene Summary

Name:
chondroitin sulfate synthase 3
Synonyms:
4833446K15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged kidney Chsy3em2(IMPC)Mbp HOM Early adult 0.00
female infertility Chsy3em2(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Chsy3em2(IMPC)Mbp HOM Early adult 0.00
abnormal skin morphology Chsy3em2(IMPC)Mbp HOM Early adult 0.00
increased bone mineral density Chsy3em2(IMPC)Mbp HOM Early adult 4.19×10-07
decreased total body fat amount Chsy3em2(IMPC)Mbp HOM Early adult 4.16×10-05
decreased grip strength Chsy3em2(IMPC)Mbp HOM Early adult 3.27×10-05
male infertility Chsy3em2(IMPC)Mbp HOM Early adult 0.00
increased lean body mass Chsy3em2(IMPC)Mbp HOM Early adult 7.59×10-11
decreased body length Chsy3em2(IMPC)Mbp HOM Early adult 2.37×10-17
abnormal kidney morphology Chsy3em2(IMPC)Mbp HOM Early adult 0.00
thick skin Chsy3em2(IMPC)Mbp HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Histopathology

Images

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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
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Tibial Hemimelia
Absent tibia OMIM:275220
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... OMIM:609324
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... OMIM:612447
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy... OMIM:607078
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f... ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... OMIM:184255
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir... OMIM:609325
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... OMIM:119100
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Impaired ADP-induced platelet aggregation,... OMIM:155100
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... ORPHA:93409
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... OMIM:112450
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Premature Ovarian Failure 2B
Primary amenorrhea, Premature ovarian insufficiency, Osteoporosis, Female infertility OMIM:300604
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, N... OMIM:615285
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Polydactyly, Postaxial, Type A7
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... OMIM:617642
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Increased mean platelet volume, Impaired ADP-induced platelet aggregatio... OMIM:617443
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... ORPHA:2632
Metaphyseal Chondrodysplasia, Schmid Type
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... OMIM:156500
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... OMIM:231200
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Buschke-Ollendorff Syndrome
Connective tissue nevi, Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Femoral-Facial Syndrome
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... ORPHA:1988
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing OMIM:166740
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... ORPHA:56304
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... ORPHA:494444
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge... OMIM:610797
Eiken Syndrome
Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnormal fingertip m... ORPHA:79106
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Short femur, Foot oligodactyly, Amelia OMIM:601357
Metaphyseal Dysplasia, Braun-Tinschert Type
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... ORPHA:85188
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Fatco Syndrome
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... ORPHA:2492
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... ORPHA:93333
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Melorheostosis With Osteopoikilosis
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility OMIM:615555
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... OMIM:147750
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Pseudoachondroplasia
Delayed epiphyseal ossification, Metaphyseal widening, Increased laxity of ankles, Abnormal femor... ORPHA:750
Spermatogenic Failure 17
Male infertility OMIM:617214
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... OMIM:227270
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Slc35A1-Cdg
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia ORPHA:238459
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility ORPHA:488191
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Takenouchi-Kosaki Syndrome
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Cryptorc... OMIM:616737
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic synd... OMIM:611209
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Flynn-Aird Syndrome
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... OMIM:136300
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Melorheostosis
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... ORPHA:2485
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Large for gestational age, Umbilical hernia, Nephroblastoma, Enlarged kidney OMIM:618272
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi... OMIM:602080
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Achondroplasia
Brachydactyly, Radial bowing, Rhizomelia, Short femur, Bowing of the legs, Ulnar bowing, Flared m... OMIM:100800
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Increased bone mineral density, Splenomegaly, Abnormality of the urinary system, Ab... ORPHA:2204
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Weismann-Netter Syndrome
Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... ORPHA:2378
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res... OMIM:608022
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... ORPHA:3312
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow... OMIM:602111
H Syndrome
Histiocytosis, Psoriasiform dermatitis, Lipodystrophy, Recurrent fractures, Abnormality of the ki... ORPHA:168569
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif... OMIM:600785
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For... OMIM:251230
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... ORPHA:2790
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spondyloepiphyseal Dysplasia Congenita
Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof... ORPHA:94068
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... OMIM:119800
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Intermediate Osteopetrosis
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... ORPHA:210110
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Lateral humeral condyle aplasia, Fibular hypoplasia, Mesomelia, Ulnar ... OMIM:164900
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short femur, Fractured radius, Decreased fibular diameter, Micrognathia, Flared metaphysis, Short... OMIM:616897
Bernard-Soulier Syndrome
Partially duplicated kidney, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Macrothrom... ORPHA:274
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Increased bone mineral density, Reticulocytosis, Recurrent fractures, Splenomegaly,... OMIM:611490
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri... OMIM:620076
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:3152
Shox-Related Short Stature
Micrognathia, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lower limb undergrowth... ORPHA:314795
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia OMIM:165590
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes... OMIM:607143
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Glomerulopathy, Proteinuria, Cachexi... ORPHA:77297
Stuve-Wiedemann Syndrome 1
Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx... OMIM:601559
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ... ORPHA:356961
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt... ORPHA:261529
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Inguinal hernia OMIM:261550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar... OMIM:608940
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Increased bone mineral density, Cortical sclerosis, Osteopetrosis... OMIM:620366
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Anemia ORPHA:37748
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Orofaciodigital Syndrome Vi
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... OMIM:277170
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Flexion contracture, Neutropenia, Anem... OMIM:617303
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Sple... OMIM:259700
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Abn... ORPHA:251004
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double... ORPHA:93307
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis OMIM:122860
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Kaposiform Lymphangiomatosis
Metrorrhagia, Fractures of the long bones, Splenomegaly, Thrombocytopenia, Osteolysis, Hepatosple... ORPHA:464329
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Neurodegeneration And Seizures Due To Copper Transport Defect
Short tibia, Short femur, Talipes equinovarus OMIM:620306
Osteogenesis Imperfecta, Type X
Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Micrognathia, Tibial bowing, Genu ... OMIM:613848
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Inguinal hernia, Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Thromboc... ORPHA:487796
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosis, Anisopoikilocytosis... OMIM:607330
Syndromic Diarrhea
Hepatomegaly, Inguinal hernia, Small for gestational age, Increased mean platelet volume, Splenom... ORPHA:84064
Trichohepatoenteric Syndrome 1
Hepatomegaly, Hypospadias, Small for gestational age, Increased mean platelet volume, Splenomegal... OMIM:222470
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Werner Syndrome
Renal neoplasm, Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Oste... ORPHA:902
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenis... ORPHA:77259
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red... OMIM:614856
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... OMIM:616300
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Renal cyst OMIM:109130
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Thrombocytopenia, Osteopetrosis, Failure to thrive, Anemia OMIM:615085
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Proteinuria, Chronic neutropenia, Irregular menstruation, Osteoporosis,... ORPHA:79259
Boomerang Dysplasia
Absent radius, Hypoplastic iliac body, Fibular aplasia OMIM:112310
Caffey Disease
Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs OMIM:114000
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Hyperparathyroidism, Transient Neonatal
Osteopenia, Inguinal hernia, Recurrent fractures, Unilateral renal agenesis, Subperiosteal bone f... OMIM:618188
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fractures, Mandibular osteom... OMIM:259710
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite... OMIM:258315
Diastrophic Dysplasia
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Joint h... ORPHA:628
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Nephrolithiasis, Obstructive azoospermia OMIM:301060
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glo... OMIM:232220
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... ORPHA:2751
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... ORPHA:85165
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis OMIM:607634
Poems Syndrome
Sclerosis of hand bone, Lipodystrophy, Sclerosis of foot bone, Weight loss, Sclerosis of skull ba... ORPHA:2905
Premature Ovarian Failure 6
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... OMIM:612310
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Joint stiffness, Heparan sulfate excretion in urine, Thrombocytopenia, Flexion contr... ORPHA:505248
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... ORPHA:53
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi... OMIM:232200
Premature Ovarian Failure 13
Oligomenorrhea, Female infertility, Amenorrhea OMIM:617442
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Abnormality of connective tissue, Rheumatoid arthritis, Failure to thr... ORPHA:79128
Microphthalmia With Limb Anomalies
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, Postaxial hand ... OMIM:206920
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi... ORPHA:3035
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Delayed patellar ossification, Increased bone mineral density, Oligosacchariduria, Abnormal bone ... ORPHA:163649
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr... OMIM:239000
Classic Galactosemia
Male infertility, Hepatomegaly, Premature ovarian insufficiency, Decreased fertility in females, ... ORPHA:79239
Acromelic Frontonasal Dysostosis
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... OMIM:603671
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Webbed neck, Aminoaciduria, Neutropenia, Decreased platelet g... OMIM:603585
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo... OMIM:307800
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Beemer-Ertbruggen Syndrome
Cryptorchidism, Increased bone mineral density, Thrombocytopenia ORPHA:1237
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... ORPHA:90650
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Anemia, Renal Fanconi syndrome... OMIM:276700
Aromatase Deficiency
Osteopenia, Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic ... ORPHA:91
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Inguinal hernia, Craniosynostosis, Cardiomegaly, Splenomegaly, Limitati... OMIM:252500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... OMIM:263520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl... OMIM:617925
Catel-Manzke Syndrome
Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum, Hyperphalangy... OMIM:616145
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Craniosynostosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Czech Dysplasia
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa... OMIM:609162
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum OMIM:617798
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Splenom... OMIM:259720
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... ORPHA:93284
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Alg9-Cdg
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Lipodystrophy, Ureteral hypoplasia, Hypopla... ORPHA:79328
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... OMIM:194080
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... ORPHA:2839
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small proximal tibial epiphyses... ORPHA:96334
12Q14 Microdeletion Syndrome
Ectopic kidney, Abnormality of the spleen, Osteopoikilosis, Renal hypoplasia, Horseshoe kidney, F... ORPHA:94063
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Micrognathia, Delayed epiphyseal ossification, Preaxial polydactyly, Knee flexion con... OMIM:210710
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Hydrocele testis, Multiple lipomas, Nephroblastoma, Enlarged kidney ORPHA:276280
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Stage 5 chronic kidney disease, Ureter... OMIM:208540
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Nephrotic range proteinuria, Eosinophilia, Renal interstitial i... ORPHA:449395
Erdheim-Chester Disease
Renal insufficiency, Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism... ORPHA:35687
Pycnodysostosis
Joint laxity, Increased bone mineral density, Overweight, Generalized osteosclerosis, Increased s... ORPHA:763
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg... OMIM:618150
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... ORPHA:116
Dysosteosclerosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal dental enamel morphology, Rec... ORPHA:1782
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Long penis, Oligozoospermia ORPHA:3000
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... OMIM:131300
Endocrine-Cerebroosteodysplasia
Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney OMIM:612651
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Increased bone mineral density, Inguinal hernia, Hypospadias, Femoral ... ORPHA:2658
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis,... OMIM:130650
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Transient neutropenia, Chronic ... ORPHA:500095
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... ORPHA:958
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density ORPHA:36913
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... OMIM:112250
Desmosterolosis
Increased bone mineral density, Renal agenesis, Renal hypoplasia/aplasia, Splenomegaly, Osteopetr... ORPHA:35107
Atypical Werner Syndrome
Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Premature ovarian insuffi... ORPHA:79474
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing... OMIM:300990
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Osteopetrosis, Splenomegaly OMIM:618541
Ciliary Dyskinesia, Primary, 37
Female infertility OMIM:617577
Otopalatodigital Syndrome Type 2
Omphalocele, Increased bone mineral density, Failure to thrive, Hypospadias, Camptodactyly of fin... ORPHA:90652
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Schwartz-Jampel Syndrome
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... ORPHA:800
Omodysplasia 2
Short humerus, Micrognathia, Fibular hypoplasia, Hypoplastic distal humeri, Rhizomelic arm shorte... OMIM:164745
Helsmoortel-Van Der Aa Syndrome
Joint laxity, Recurrent urinary tract infections, Cryptorchidism, Obesity, Enuresis nocturna, Tru... OMIM:615873
Mesomelia-Synostoses Syndrome
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... OMIM:600383
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Crypto... ORPHA:33364
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Ren... ORPHA:85450
Ogden Syndrome
Global glomerulosclerosis, Inguinal hernia, Cardiomegaly, Cryptorchidism, Thrombocytopenia, Hydro... OMIM:300855
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ren... OMIM:227650
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Proteinuria, Splenomegaly, Thrombocyt... ORPHA:77261
Pseudohypoparathyroidism Type 1A
Increased bone mineral density, Hypergonadotropic hypogonadism, Obesity, Reduced bone mineral den... ORPHA:79443
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Abnormality of renal excreti... ORPHA:289176
Thrombocytopenia 1
Joint hemorrhage, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent throm... OMIM:313900
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Fibrochondrogenesis 1
Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia... OMIM:228520
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... ORPHA:2780
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Tapered finger OMIM:618367
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short humerus, Short femur, Polydactyly ORPHA:17
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Thrombocyto... ORPHA:731
Heterotaxy, Visceral, 1, X-Linked
Omphalocele, Hepatomegaly, Renal agenesis, Block vertebrae, Cardiomegaly, Asplenia, Horseshoe kid... OMIM:306955
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits ORPHA:3352
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Gaucher Disease
Osteopenia, Hepatomegaly, Increased bone mineral density, Osteomyelitis, Proteinuria, Recurrent f... ORPHA:355
Occipital Horn Syndrome
Pes planus, Brachydactyly, Down-sloping shoulders, Aplastic clavicle, Aplasia/hypoplasia of the h... ORPHA:198
Primary Hyperoxaluria
Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos... ORPHA:416
Pseudohypoparathyroidism Type 1C
Increased bone mineral density, Hypergonadotropic hypogonadism, Obesity, Oligomenorrhea, Low urin... ORPHA:79444
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Cellulitis, Failure to thrive, Thrombocytopenia OMIM:617718
8Q24.3 Microdeletion Syndrome
Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Rocker bottom f... ORPHA:508488
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Pseudohypoparathyroidism Type 1B
Increased bone mineral density, Diaphyseal sclerosis, Increased bone density with cystic changes,... ORPHA:94089
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... OMIM:259900
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Meacham Syndrome
Accessory spleen, Aplasia of the right hemidiaphragm, Horseshoe kidney, Aplasia of the left hemid... OMIM:608978
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Leprechaunism
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, ... ORPHA:508
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Dysostosis, Stanescu Type
Massively thickened long bone cortices, Increased bone mineral density, Abnormal dental enamel mo... ORPHA:1798
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... OMIM:276820
Campomelic Dysplasia
11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d... ORPHA:140
Raine Syndrome
Increased bone mineral density, Hydroureter, Subperiosteal bone formation, Arthrogryposis multipl... OMIM:259775
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac... OMIM:274000
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... OMIM:224300
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick... ORPHA:89936
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Acromelic Frontonasal Dysplasia
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia ORPHA:1827
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... OMIM:208500
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Osteopetrosis ORPHA:1522
Williams Syndrome
Osteopenia, Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalc... ORPHA:904
Cardiac-Urogenital Syndrome
Accessory spleen, Unilateral cryptorchidism, Congenital diaphragmatic hernia, Cryptorchidism, Enl... OMIM:618280
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Slender long ... OMIM:264090
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Ovarian Dysgenesis 3
Primary amenorrhea, Female infertility OMIM:614324
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea OMIM:110100
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:618476
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Cryptorchidism, Micropenis, Patchy osteosclerosis OMIM:241410
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Sple... OMIM:312870
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Recurrent fractures, Thrombocytopenia, Proximal renal tubular acidosi... ORPHA:2785
Sanjad-Sakati Syndrome
Cryptorchidism, Hypoplasia of penis, Abnormal dental enamel morphology, Patchy osteosclerosis ORPHA:2323
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia ORPHA:3240
Hydrolethalus Syndrome 1
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... OMIM:236680
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia ORPHA:48
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ec... ORPHA:99413
Turner Syndrome
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ec... ORPHA:881
Mosaic Monosomy X
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ec... ORPHA:99228
Monosomy X
Osteopenia, Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Ec... ORPHA:99226
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Small for gestational age, Thickened cortex of long bones, Anemia OMIM:127000
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Wiedemann-Rautenstrauch Syndrome
Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long fingers, 2-... ORPHA:3455
Desmosterolosis
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... OMIM:602398
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... ORPHA:8
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Femoral-Facial Syndrome
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... OMIM:134780
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
46,Xy Partial Gonadal Dysgenesis
Male infertility, Hypoplasia of penis, Streak ovary, Hypergonadotropic hypogonadism, Hypospadias,... ORPHA:251510
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Enamel hypoplasia, Increased sus... OMIM:119600
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hypercalciuria ORPHA:2239
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia OMIM:612301
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Increased density of long bones, Hypospadias, Hydroureter, Splenopancreatic fu... OMIM:269150
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Bifid femur, Aplasia/hypoplasia of the femur, Clinodactyly of th... ORPHA:2769
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... ORPHA:90793
Bloom Syndrome
Male infertility, Decreased proportion of CD4-positive T cells, Recurrent urinary tract infection... ORPHA:125
Partial Androgen Insensitivity Syndrome
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... ORPHA:90797
Sclerosteosis 1
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... OMIM:269500
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Abnormality of the kidney... ORPHA:1772
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... ORPHA:572333
Orofaciodigital Syndrome Type 4
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... ORPHA:2753
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ... ORPHA:667
Cranioectodermal Dysplasia 1
Broad toe, Brachydactyly, Short humerus, Rhizomelia, Broad distal phalanges of all fingers, Short... OMIM:218330
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Brachydactyly, Abnormal distal phalanx morphology of finger, Micromelia, Micrognathia, Aplastic c... ORPHA:2636
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Kinsship Syndrome
Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Mesomelia... OMIM:619297
Osteopathia Striata With Cranial Sclerosis
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia... OMIM:300373
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Charge Syndrome
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... OMIM:214800
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Cystic Fibrosis
Male infertility, Hepatomegaly, Hypercalciuria, Hepatosplenomegaly, Failure to thrive 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.

Phenotype Allele Zygosity Sex Life Stage
Skin - MPATH pathological entity term hypertrophic tissue Chsy3em2(IMPC)Mbp HOM Early adult
Knee joint - MPATH pathological process term extracellular matrix deposition Chsy3em2(IMPC)Mbp HOM Early adult
Skin - MPATH pathological process term hypertrophy Chsy3em2(IMPC)Mbp HOM Early adult

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

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