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Gene: G2e3 MGI:2444298

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Gene Summary

Name:
G2/M-phase specific E3 ubiquitin ligase
Synonyms:
6030408C04Rik,  D930034K21Rik

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
increased circulating aspartate transaminase level G2e3em1(IMPC)Tcp HOM Early adult 1.46×10-06
abnormal mammary gland morphology G2e3em1(IMPC)Tcp HOM Early adult 0.00
small kidney G2e3em1(IMPC)Tcp HOM Early adult 0.00
short tibia G2e3em1(IMPC)Tcp HOM Early adult 1.26×10-23
decreased bone mineral density G2e3em1(IMPC)Tcp HOM Early adult 1.44×10-17
decreased body length G2e3em1(IMPC)Tcp HOM Early adult 2.45×10-16
abnormal skin morphology G2e3em1(IMPC)Tcp HOM Early adult 0.00
impaired cued conditioning behavior G2e3em1(IMPC)Tcp HOM Early adult 1.21×10-05
decreased lean body mass G2e3em1(IMPC)Tcp HOM Early adult 1.82×10-24
abnormal pancreas morphology G2e3em1(IMPC)Tcp HOM Early adult 0.00
abnormal spleen morphology G2e3em1(IMPC)Tcp HOM Early adult 0.00
small heart G2e3em1(IMPC)Tcp HOM Early adult 0.00
increased total body fat amount G2e3em1(IMPC)Tcp HOM Early adult 4.84×10-22
small uterus G2e3em1(IMPC)Tcp HOM Early adult 0.00
decreased bone mineral content G2e3em1(IMPC)Tcp HOM Early adult 3.07×10-25

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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.

Histopathology

Images

9 Images

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Eye Morphology

Images Ophthalmoscopy

68 Images

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Gross Pathology and Tissue Collection

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8 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Slit Lamp

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by G2e3 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 G2e3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Osebold-Remondini Syndrome
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... OMIM:112910
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... OMIM:607778
Slc35A2-Cdg
Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Craniosynostosis, ... ORPHA:356961
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Satoyoshi Syndrome
Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ... OMIM:600705
Acromesomelic Dysplasia 3
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... OMIM:609441
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, ... OMIM:620076
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Satoyoshi Syndrome
Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Ab... ORPHA:3130
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age OMIM:601820
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Small scrotum, Hyp... OMIM:607143
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... ORPHA:2756
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructiv... ORPHA:432
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Stuve-Wiedemann Syndrome 1
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Sparse hair, Short tibia, ... OMIM:601559
Amed Syndrome, Digenic
Acute myeloid leukemia, Thrombocytopenia, Hypoplasia of the uterus, Leukopenia, Bone marrow hypoc... OMIM:619151
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Perlman Syndrome
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Micrognathia, Cryptorchidism,... ORPHA:2849
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... OMIM:609945
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Perrault Syndrome 4
Increased circulating gonadotropin level, Osteoporosis, Obesity, Hypoplasia of the uterus, Hypopl... OMIM:615300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Omphalocele, Rhizomelia, Postaxial polydactyly, Sparse eyebrow, Cryptorchidism... OMIM:616300
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal... OMIM:201170
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Alopecia, Delayed epiphyseal ossification, Rickets, ... OMIM:600785
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... OMIM:605274
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Postaxial polydactyly, Micrognathia, Septate vagina, Complete atrioventricula... OMIM:617925
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia,... OMIM:614837
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Microphthalmia, Syndromic 9
Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Congenital diaphragmatic hernia, ... OMIM:601186
Neurodegeneration And Seizures Due To Copper Transport Defect
Short femur, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Glandular hypospadia... OMIM:620306
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... ORPHA:3329
Estrogen Resistance Syndrome
Osteopenia, Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gon... ORPHA:785
Omodysplasia 1
Atrial septal defect, Short humerus, Ventricular septal defect, Rhizomelia, Increased fibular dia... OMIM:258315
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Preaxial hand polydactyly, P... OMIM:263520
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
External genital hypoplasia, Micrognathia, Large for gestational age, Flexion contracture, Tibial... ORPHA:96334
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Hypoplasia of the uterus, Facial hirsutism, H... ORPHA:247768
Thrombocytopenia-Absent Radius Syndrome
Micrognathia, Clinodactyly of the 5th finger, Phocomelia, Genu varum, Finger syndactyly, Fused ce... ORPHA:3320
Femoral-Facial Syndrome
Inguinal hernia, Short femur, Micrognathia, Cryptorchidism, Long penis, Coxa vara, Abnormal fibul... ORPHA:1988
Myoectodermal Gonadal Dysgenesis Syndrome
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Accessory spleen, Elevated circulat... OMIM:618419
Microcephaly-Micromelia Syndrome
Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,... OMIM:251230
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra... OMIM:612576
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Femoral hernia, ... ORPHA:198
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat... OMIM:208500
Orofaciodigital Syndrome Iv
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... OMIM:258860
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Gona... OMIM:612964
46,Xy Sex Reversal 4
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Elevated circulating creatini... OMIM:154230
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... ORPHA:3344
Meckel Syndrome 12
Rocker bottom foot, Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus... OMIM:616258
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... ORPHA:2470
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Micrognathia, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, B... OMIM:601076
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300554
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... ORPHA:166016
Estrogen Resistance
Osteopenia, Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries OMIM:615363
Orofaciodigital Syndrome Ix
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly OMIM:258865
Renal Cysts And Diabetes Syndrome
Hypospadias, Proteinuria, Unilateral renal agenesis, Elevated circulating creatinine concentratio... OMIM:137920
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... OMIM:307800
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta... OMIM:208540
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... OMIM:613091
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... OMIM:617052
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism OMIM:300510
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... OMIM:268305
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop... OMIM:614841
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Reduced bone mineral density, Ambiguous genitalia, male, Micropenis, Hy... ORPHA:90796
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowin... OMIM:241530
Seckel Syndrome 7
Abnormal carpal morphology, Hypoplasia of the uterus, Hip dysplasia, Clinodactyly of the 5th fing... OMIM:614851
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Acromelic Frontonasal Dysostosis
Tubulonodular pericallosal lipoma, Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foo... OMIM:603671
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
Dent Disease 1
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... OMIM:300009
Diethylstilbestrol Syndrome
Small for gestational age, Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology... ORPHA:1916
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Failure to thrive, Congenital hip dislocation, Foot joint contracture, Ulnar deviat... ORPHA:456312
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... OMIM:274000
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Aceruloplasminemia
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... ORPHA:48818
Orofaciodigital Syndrome Type 2
Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met... ORPHA:2751
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Preaxial polyd... OMIM:615503
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han... ORPHA:56305
Omodysplasia 2
Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Uterus didelphys, Fibular hypoplasia, L... OMIM:164745
Hydrolethalus Syndrome 1
Accessory spleen, Omphalocele, Ventricular septal defect, Hypospadias, Micrognathia, Bifid uterus... OMIM:236680
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Attention deficit hyperactivity di... OMIM:617914
Bohring-Opitz Syndrome
Syndactyly, Failure to thrive, Ventricular septal defect, Overlapping toe, Supernumerary nipple, ... OMIM:605039
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Elbow contracture, Delayed pubic bone ossification, 2-3 toe syndactyly, Knee flexion ... OMIM:618162
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the ulna, Split hand, Split foot, Bi... OMIM:200980
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hyperlipidemia, Osteoporosis, Nephr... OMIM:232220
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Fanconi Anemia, Complementation Group D2
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... OMIM:227646
Kaposiform Lymphangiomatosis
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Pancre... ORPHA:464329
Microphthalmia With Limb Anomalies
Failure to thrive, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Abnormal eyelash morpho... OMIM:206920
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
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
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... OMIM:615866
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Femoral bowing, Micropenis, Decreased circulati... OMIM:201750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia... ORPHA:3035
Peters-Plus Syndrome
Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Limited elbow movement, Mic... OMIM:261540
Woodhouse-Sakati Syndrome
Osteopenia, Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growt... ORPHA:3464
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Trisomy 8P
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Nephr... ORPHA:264450
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Acromesomelic Dysplasia 2B
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... OMIM:228900
Acrocephalopolydactylous Dysplasia
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Craniosynostosis, Micromelia, Postaxial hand poly... OMIM:200995
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Micrognathia, Premature graying of hair, Short palm, Sparse hair, Abs... OMIM:268400
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
Fryns Syndrome
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Proximal placement of thumb, Larg... OMIM:229850
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Microgn... OMIM:227270
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... OMIM:171480
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... ORPHA:958
Feingold Syndrome
Hallux valgus, Toe syndactyly, Micrognathia, Abnormality of the spleen, Deviation of the 2nd fing... ORPHA:1305
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Aplasia/hypoplasia of the extremities, Femoral bowing, Anteriorly displaced genita... OMIM:276820
Seckel Syndrome 1
11 pairs of ribs, Pes planus, Ivory epiphyses, Pancytopenia, Sandal gap, Abnormal finger flexion ... OMIM:210600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Sagitta... OMIM:610199
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Inguinal hernia, Portal hypertension, Pancreatic cysts, Situs inver... OMIM:267010
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Campomelia, Cumming Type
Hepatomegaly, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dysplas... ORPHA:1318
Eiken Syndrome
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... OMIM:600002
Cranioectodermal Dysplasia 1
Bicuspid aortic valve, Tubulointerstitial nephritis, Hepatic fibrosis, Hypocalcemia, Sparse hair,... OMIM:218330
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Short palm, Abnormal vertebral segmentation and fusion, Synos... ORPHA:90652
Meckel Syndrome
Accessory spleen, Ureteral duplication, Bowing of the long bones, True hermaphroditism, Pancreati... ORPHA:564
Campomelic Dysplasia
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Ambiguous genital... ORPHA:140
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Microretrognathia, Overlapping toe, Rocker bottom foot, Tapered fi... ORPHA:488642
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level... ORPHA:168558
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... ORPHA:85170
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Osteopenia, Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, Hepati... OMIM:266920
Cardiac-Urogenital Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an... OMIM:618280
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... ORPHA:116
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... ORPHA:2634
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Reduced bone mineral density, Sex reversal, Increased circulating renin level... ORPHA:289548
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Distal Deletion 12Q
Micrognathia, Ectopic kidney, Biliary atresia, Aplasia/Hypoplasia of the middle phalanx of the 3r... ORPHA:96149
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Tibial bowing, Hypoplasia of first ribs, Atrial s... OMIM:269150
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Ulnar deviation of the 3rd finger, Pancreatic fibrosis, Proximal placement of thumb... OMIM:616263
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Renal insufficiency, Jaundice, Ap... ORPHA:93111
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Cryptorchidism, Abnormal eyel... OMIM:147791
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Ovotes... OMIM:309801
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... ORPHA:699
Jacobsen Syndrome
Long hallux, Broad hallux phalanx, Finger syndactyly, Multicystic kidney dysplasia, Cryptorchidis... ORPHA:2308
Campomelic Dysplasia
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... OMIM:114290
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Exocrine pancreatic insufficiency, Metaphyseal widening, Thrombo... OMIM:617941
Meckel Syndrome 14
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Microgna... OMIM:619879
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
Campomelia, Cumming Type
Bowing of the long bones, Polycystic liver disease, Pancreatic cysts, Polycystic kidney dysplasia... OMIM:211890
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi... ORPHA:1788
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,... OMIM:214800
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... OMIM:108720
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Micrognathia, ... ORPHA:2879
Cousin Syndrome
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Low anterior hairline, Am... OMIM:260660
Fibrochondrogenesis 1
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... OMIM:228520
Schinzel-Giedion Syndrome
Micrognathia, Renal cyst, Tibial bowing, Hepatoblastoma, Micropenis, Myeloid leukemia, Streak ova... ORPHA:798
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... OMIM:164900
Alveolar Echinococcosis
Liver abscess, Abnormal pelvis bone morphology, Cholangitis, Portal hypertension, Abnormal perica... ORPHA:284
Acromelic Frontonasal Dysplasia
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Patellar h... ORPHA:1827
1P36 Deletion Syndrome
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... ORPHA:1606
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Ambiguous genitalia, ma... ORPHA:90793
Peters Plus Syndrome
Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Clitoral hypoplasia, Cl... ORPHA:709
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Pancreatic cysts, Renal hypoplasia, Stage 5 chronic kidne... OMIM:614377
Martinez-Frias Syndrome
Hypoplasia of the gallbladder, Hypospadias, Extrahepatic biliary duct atresia, Annular pancreas, ... OMIM:601346
Craniosynostosis With Fibular Aplasia
Cryptorchidism, Craniosynostosis, Fibular aplasia OMIM:218550
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Micrognathia, Asplenia, Short th... OMIM:164280
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Small for gestational age,... OMIM:557000
Bohring-Opitz Syndrome
Cardiomegaly, Micrognathia, Synophrys, Limitation of joint mobility, Bilateral wrist flexion cont... ORPHA:97297
Igg4-Related Submandibular Gland Disease
Renal insufficiency, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Enlarged l... ORPHA:449432
Woodhouse-Sakati Syndrome
Alopecia, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypoplasia of the fallop... OMIM:241080
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Atrial septal defect, Atri... OMIM:265380
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Renal And Mullerian Duct Hypoplasia
Micrognathia, Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral... OMIM:266810
Mitchell-Riley Syndrome
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirubinemia, Annular pan... OMIM:615710
Chromosome 17Q12 Deletion Syndrome
Micrognathia, Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebr... OMIM:614527
Orofaciodigital Syndrome Type 1
Brittle hair, Micrognathia, Reduced bone mineral density, Coarse hair, Sparse hair, Clinodactyly ... ORPHA:2750
Osteofibrous Dysplasia, Susceptibility To
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Polycystic liver disease, Decreased glomerular filtration rate, Pancreatic c... ORPHA:730
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... OMIM:304120
Blepharophimosis, Ptosis, And Epicanthus Inversus
Sparse pubic hair, Increased circulating gonadotropin level, Highly arched eyebrow, Hypoplasia of... OMIM:110100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelp... ORPHA:2237
Townes-Brocks Syndrome 1
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Atrial septal defect, Vesicoureteral reflux... OMIM:107480
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Syndactyly, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Widow's peak, V... OMIM:616975
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat... ORPHA:731
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Duodenal Atresia
Abnormality of the pancreas, Annular pancreas ORPHA:1203
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch... ORPHA:64744
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Aplasia/Hypoplasia of the... ORPHA:2255
Pancreatic Agenesis 1
Failure to thrive, Reduced C-peptide level, Exocrine pancreatic insufficiency, Pancreatic hypopla... OMIM:260370
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Osteopathia Striata With Cranial Sclerosis
Omphalocele, Atrial septal defect, Failure to thrive, Paranasal sinus hypoplasia, Ventricular sep... OMIM:300373
Senior-Loken Syndrome 8
Global glomerulosclerosis, Pancreatic cysts, Stage 5 chronic kidney disease, Polydactyly, Nephron... OMIM:616307
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Failure to thrive, Joint stiffness, Secundum atrial septal d... OMIM:609069
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas ORPHA:65288
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Kinsship Syndrome
Osteopenia, Pes planus, Micrognathia, Coxa valga, Synophrys, Hip dislocation, Hypertrichosis, Fib... OMIM:619297
Tibial Hemimelia
Absent tibia OMIM:275220
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proxim... OMIM:146255
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Hypoplas... ORPHA:3144
Orofaciodigital Syndrome I
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Abnormal heart ... OMIM:311200
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Renal h... OMIM:614083
Wolf-Hirschhorn Syndrome
Micrognathia, Atrial septal defect, Accessory spleen, Vertebral fusion, Pseudoepiphyses of the me... OMIM:194190
Orofaciodigital Syndrome Type 4
Decreased testicular size, Finger syndactyly, Monorchism, Camptodactyly of finger, Micromelia, Mi... ORPHA:2753
Annular Pancreas
Annular pancreas ORPHA:675
Pancreas, Annular
Annular pancreas OMIM:167750
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Craniosynostosis, Supernumerary nipple, Sparse eyebrow, Aplasia/Hypoplasia involving ... ORPHA:1521
Pancreatitis, Hereditary
Pancreatitis, Pancreatic pseudocyst, Pancreatic calcification, Exocrine pancreatic insufficiency OMIM:167800
Oeis Complex
11 pairs of ribs, Absence of the sacrum, Omphalocele, Congenital hip dislocation, Hydroureter, Bi... OMIM:258040
Coffin-Siris Syndrome 1
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Prominent interphalangeal joints, Prom... OMIM:135900
Okamoto Syndrome
Facial hypertrichosis, Ureteropelvic junction obstruction, Omphalocele, Ventricular septal defect... ORPHA:2729
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hig... ORPHA:572333
Limb-Mammary Syndrome
Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Sparse eyebrow, 3-4 finger cutaneous syndact... ORPHA:69085
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal... OMIM:158330
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Hyponatremia, Hypogonadotrop... ORPHA:90794
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Vesicoureteral re... ORPHA:444077
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Inguinal hernia, Block vertebrae, Missing ribs, Absent external genitalia, Uret... OMIM:271520
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Inguinal hernia, Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Abnormal hair wh... ORPHA:457284
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Small for gestational age, Pancreatic a... OMIM:615935
Pancreatic Agenesis-Holoprosencephaly Syndrome
Absent gallbladder, Aplasia/Hypoplasia of the phalanges of the thumb, Small for gestational age, ... ORPHA:556955
Neu-Laxova Syndrome 1
Finger syndactyly, Toe syndactyly, Ventricular septal defect, Rocker bottom foot, Micromelia, Mic... OMIM:256520
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe ... ORPHA:3109
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa... ORPHA:892
Exstrophy-Epispadias Complex
Bifid scrotum, Omphalocele, Renal insufficiency, Inguinal hernia, Urinary incontinence, Bifid ute... ORPHA:322
Ehlers-Danlos Syndrome, Vascular Type
Inguinal hernia, Cryptorchidism, Cystocele, Cigarette-paper scars, Foot acroosteolysis, Osteolyti... OMIM:130050
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi... ORPHA:83628
Pallister-Killian Syndrome
Congenital hip dislocation, Edema of the dorsum of feet, Small scrotum, Congenital diaphragmatic ... OMIM:601803
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia OMIM:617466
Vascular Ehlers-Danlos Syndrome
Congenital hip dislocation, Osteoarthritis, Uterine rupture, Alopecia, Hypospadias, Abnormal eyel... ORPHA:286
Loeys-Dietz Syndrome
Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Atypical sca... ORPHA:60030
Pontocerebellar Hypoplasia Type 7
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent... ORPHA:284339
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Bifid uterus ORPHA:2736

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
Liver - MPATH pathological entity term steatosis G2e3em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term vacuolation G2e3em1(IMPC)Tcp HOM Early adult
Liver - MPATH pathological process term hydropic degeneration G2e3em1(IMPC)Tcp 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 G2e3.

No publications found that use IMPC mice or data for G2e3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
G2e3em1(IMPC)Tcp Exon Deletion Mice
G2e3tm55295(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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