Gene Summary

Name:
C2 calcium-dependent domain containing 3
Synonyms:
N/A

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation C2cd3em1(IMPC)Tcp HOM E9.5 0.00
enlarged urinary bladder C2cd3em1(IMPC)Tcp HET Early adult 0.00
decreased lymphocyte cell number C2cd3em1(IMPC)Tcp HET   Early adult 4.60×10-05
embryonic lethality prior to tooth bud stage C2cd3em1(IMPC)Tcp HOM   E12.5 0.00
abnormal skin morphology C2cd3em1(IMPC)Tcp HET Early adult 0.00
increased neutrophil cell number C2cd3em1(IMPC)Tcp HET   Early adult 8.22×10-07
preweaning lethality, complete penetrance C2cd3em1(IMPC)Tcp HOM   Early adult 0.00
abnormal uterus morphology C2cd3em1(IMPC)Tcp HET Early adult 0.00
abnormal embryo size C2cd3em1(IMPC)Tcp HOM E9.5 0.00
hyperactivity C2cd3em1(IMPC)Tcp HET Early adult 8.31×10-11

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Ophthalmoscopy

101 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

9 Images

Gross Morphology Embryo E9.5

Images

6 Images

Eye Morphology

Images Slit Lamp

39 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by C2cd3 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.

The table below shows human diseases associated to C2cd3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to C2cd3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 8
Hyperactivity, Lymphopenia OMIM:615401
Syndactyly Type 2
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... ORPHA:93403
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Immunodeficiency 40
Lymphopenia OMIM:616433
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal cardiac septum morphology, Abnormal hip bone morphology, Upper limb phocomelia, Syndacty... ORPHA:294975
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Syndactyly, Type Iv
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... OMIM:186200
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Hyperlysinemia, Type I
Anemia, Hyperactivity OMIM:238700
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Meckel Syndrome, Type 11
Oligohydramnios, Occipital encephalocele, Polydactyly OMIM:615397
Neutrophilia, Hereditary
Hepatosplenomegaly, Neutrophilia OMIM:162830
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Occipital encephalocele, Postaxial polydactyly OMIM:213010
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... OMIM:615897
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Cyclic Neutropenia
Cyclic neutropenia, Neutropenia OMIM:162800
Spina Bifida-Hypospadias Syndrome
Spinal dysraphism, Spina bifida ORPHA:3176
Santos Syndrome
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... OMIM:613005
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb OMIM:174200
Carpenter Syndrome
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... ORPHA:65759
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Glomerulonephritis OMIM:247800
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... OMIM:618167
Nevus Comedonicus Syndrome
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly ORPHA:64754
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Polydactyly, Preaxial Iv
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... OMIM:174700
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Jawad Syndrome
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... OMIM:251255
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Encephalocele, Talipes equinovarus, Polydactyly OMIM:613885
Bardet-Biedl Syndrome 12
Polydactyly OMIM:615989
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Mend Syndrome
Overlapping toe, Hydrocephalus, 2-3 toe syndactyly, Aortic valve stenosis, Overlapping fingers, P... OMIM:300960
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Meckel Syndrome, Type 3
Hydrocephalus, Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Occipital enc... OMIM:607361
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot... OMIM:614120
Immunodeficiency 105
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... OMIM:619924
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Bardet-Biedl Syndrome 7
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Joubert Syndrome 16
Encephalocele, Polydactyly OMIM:614465
Meckel Syndrome, Type 2
Anencephaly, Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, Ence... OMIM:603194
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Attention deficit hyperactivity disorder, Anemia, Thrombocy... OMIM:619151
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Meckel Syndrome, Type 10
Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Camptodactyly, Postaxial hand po... OMIM:614175
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... ORPHA:859
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... ORPHA:444463
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Hydrocephalus, Syndactyly, Polydactyly OMIM:602501
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,... ORPHA:2378
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Immunodeficiency 76
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Neutr... OMIM:193670
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... OMIM:617927
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Morm Syndrome
Hyperactivity, Micropenis ORPHA:75858
Biemond Syndrome Type 2
Preaxial polydactyly, Hydrocephalus ORPHA:141333
Acropectoral Syndrome
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb OMIM:605967
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... OMIM:614470
Tibial Hemimelia
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... ORPHA:93322
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Gonadal dysgenesis, Ambiguous genitalia, Penoscrotal hypo... OMIM:612965
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
8p23.1 deletion syndrome
Cryptorchidism, Hyperactivity DECIPHER:39
Orofaciodigital Syndrome Vi
Mesoaxial hand polydactyly, Postaxial polydactyly, Brachydactyly, Central Y-shaped metacarpal, Cl... OMIM:277170
Orofaciodigital Syndrome Xvii
Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polydactyly, Tetral... OMIM:617926
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
46,Xx Ovotesticular Disorder Of Sex Development
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... ORPHA:2138
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Joubert Syndrome 18
Ventricular septal defect, Polydactyly, Camptodactyly OMIM:614815
Acromelic Frontonasal Dysostosis
Talipes equinovarus, Preaxial polydactyly, Syndactyly, Polydactyly, Encephalocele OMIM:603671
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Short fourth metatarsal, Brachydactyly, Polydactyly, Situs inversus t... OMIM:615994
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Gonadal dysgenesis with female appearance, male, Vanishing testis, Abno... OMIM:273250
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 95
Lymphopenia OMIM:619773
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Leydig Cell Hypoplasia
Cryptorchidism, Abnormal external genitalia, Micropenis, Hypergonadotropic hypogonadism, Hypospad... ORPHA:755
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Ventricular septal defect, Umbilical h... OMIM:169400
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Preaxial hand polydactyly, Broad hallux phalanx, Broad thumb, Exencephaly, Finger ... ORPHA:2211
Joubert Syndrome 7
Postaxial hand polydactyly, Encephalocele, Genu valgum, Postaxial polydactyly OMIM:611560
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Preaxial polydactyly, Hydrops fetalis... OMIM:616546
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Anencephaly, Ventricular septal defect, Postaxial hand polyd... OMIM:611134
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping toe, Atrial septal defect, Bilateral talipes equinovarus, Postaxial polydactyly, Prea... OMIM:618142
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... OMIM:617102
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Anemia, Lymphopenia, Neutropenia OMIM:604250
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Broad hallux, Complete atrioventricular can... OMIM:217095
Bardet-Biedl Syndrome 9
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... OMIM:615986
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Syndactyly, Polydactyly, Short 5th finger, Small pl... ORPHA:397590
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, A... OMIM:614837
Meckel Syndrome, Type 5
Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the long bones, Oc... OMIM:611561
Meckel Syndrome 14
Postaxial polydactyly, Holoprosencephaly, Single ventricle, Syndactyly, Postaxial hand polydactyl... OMIM:619879
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of class-switched memory B cells, Lymphopenia, Autoimmune thrombocytopenia, ... OMIM:619846
Otopalatodigital Syndrome Type 2
Myelomeningocele, Abnormal cardiac septum morphology, Hydrocephalus, Carpal synostosis, Flared il... ORPHA:90652
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Abnormal heart morp... ORPHA:1505
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... ORPHA:2756
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Genital ulcers, Thrombocytopenia, Lymphopenia OMIM:616744
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Bicuspid aortic valve, Clinodactyly of the 5th finger, Atrial septal defect, Hypoplastic left hea... OMIM:619721
Bardet-Biedl Syndrome 19
Polydactyly OMIM:615996
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Ventriculomegaly With Cystic Kidney Disease
Ventricular septal defect, Polyhydramnios, Hydrocephalus, Postaxial polydactyly OMIM:219730
Endocrine-Cerebroosteodysplasia
Hydrocephalus, Ulnar deviation of the hand, Postaxial polydactyly, Holoprosencephaly, Preaxial po... OMIM:612651
Congenital Sialidosis Type 2
Hydrocephalus, Polydactyly, Edema, Umbilical hernia, Ascites, Abnormal heart morphology ORPHA:93400
Joubert Syndrome 39
Joint contracture of the 5th finger, Occipital encephalocele, Hypoplastic left heart, Postaxial p... OMIM:619562
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Hypoplasia of the uterus, Gonadal dysgenesis with female appearance, ... ORPHA:168563
Joubert Syndrome 14
Hydrocephalus, Postaxial polydactyly, Encephalocele OMIM:614424
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Aplasia/Hypoplasia of th... OMIM:158330
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Postaxial polydactyly, Hydrops fetalis, Micromelia, Polydactyly, ... OMIM:614091
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Hydrocephalus, Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Mi... OMIM:617866
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Craniorachischisis
Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism, Bifid sternum ORPHA:63260
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Polyhydramnios, Brachydactyly, Short long bone, Postaxial polydactyly OMIM:615633
Intellectual Developmental Disorder, Autosomal Recessive 71
Attention deficit hyperactivity disorder, Cryptorchidism, Hyperactivity, Micropenis OMIM:618504
Bardet-Biedl Syndrome 8
Situs inversus totalis, Postaxial polydactyly OMIM:615985
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Aplasia of the ovary, Blind vagina, Micropenis, Bifid scrotum, Hypospad... ORPHA:90797
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Abnormality of the uterus, Abn... ORPHA:1916
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Atrial septal defect, Postaxial polydactyly OMIM:603387
Duane-Radial Ray Syndrome
Atrial septal defect, Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar... OMIM:607323
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, Aplas... OMIM:266810
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Intellectual Developmental Disorder, Autosomal Dominant 36
Deviation of the 5th finger, Hydrocephalus, Postaxial polydactyly, Broad hallux, Hip dysplasia OMIM:616362
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... OMIM:617780
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Hyperactivity, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal T ... ORPHA:760
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
3P25.3 Microdeletion Syndrome
Overlapping toe, Atrial septal defect, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger synda... ORPHA:435638
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia ORPHA:277
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Polydactyly, Clinodactyly of the 5th finger, Hypoplastic left... OMIM:301022
Au-Kline Syndrome
Overlapping toe, Deep palmar crease, Hip dysplasia, Postaxial polydactyly OMIM:616580
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Nephronophthisis 15
Polydactyly OMIM:614845
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Atrioventricular canal defect, Limb undergrowth, Genu valgum, Complete atr... OMIM:619142
Systemic Lupus Erythematosus 17
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Suleiman-El-Hattab Syndrome
Atrial septal defect, Brachydactyly, Polydactyly, Ventricular septal defect, Single transverse pa... OMIM:618950
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... OMIM:233420
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Congenital Disorder Of Glycosylation, Type Iil
Hydrocephalus, Atrial septal defect, Postaxial polydactyly, Ventricular septal defect, Patent duc... OMIM:614576
Testicular Agenesis
Urogenital sinus anomaly, Hypoplasia of the uterus, Absent testis, Absent external genitalia, Abn... ORPHA:325124
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... OMIM:615503
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Dec... OMIM:614841
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Brachydactyly, Syn... OMIM:617895
Retinitis Pigmentosa 89
Bicuspid aortic valve, Postaxial polydactyly OMIM:618955
Immunodeficiency 44
Lymphopenia OMIM:616636
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand polydactyly, ... OMIM:258860
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Nephrotic Syndrome, Type 14
Nephrotic syndrome, Lymphopenia, Diffuse mesangial sclerosis, Micropenis, Focal segmental glomeru... OMIM:617575
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Bifid scrotum, Micropenis, Hypoplasia of the vagina, Ovot... OMIM:278850
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Immunodeficiency 36
Lymphopenia, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decreased proportion of... OMIM:616005
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatomegaly, Eosinophilia, Hepatosplenomegaly, Abnormal B ce... ORPHA:331206
Premature Ovarian Failure 7
Hypoplasia of the uterus, Clitoral hypertrophy, Gonadal dysgenesis OMIM:612964
Rhombencephalosynapsis
Hydrocephalus, Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Finge... ORPHA:59315
Basal Cell Nevus Syndrome
Hydrocephalus, Short distal phalanx of the thumb, Irregular ossification of hand bones, Down-slop... OMIM:109400
Lumbar Syndrome
Bifid scrotum, Micropenis, Hypospadias, Bifid uterus, Bladder exstrophy, Ambiguous genitalia, Cry... ORPHA:83628
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Postaxial polydactyly OMIM:617757
Ovarian Dysgenesis 2
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Streak ovary OMIM:300510
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... ORPHA:486
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Reduced natu... OMIM:619510
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Chronic kidney disease, Nephrotic syndrome, Proximal renal tubular acidosis, Uterus didelphys, Se... OMIM:146255
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Tapered finger, Atrioventricular canal defect OMIM:613792
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Unilateral renal agenesis, Ectopic kidney, Azoospermia OMIM:601076
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
20P13 Microdeletion Syndrome
Clinodactyly, Brachydactyly, Polydactyly, Finger syndactyly ORPHA:313781
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis... OMIM:619644
Immunodeficiency 31C
Autoimmune hemolytic anemia, Lymphopenia OMIM:614162
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Joubert Syndrome 23
Polydactyly OMIM:616490
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Joubert Syndrome 15
Polydactyly OMIM:614464
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Brain abscess, Anemia, Liver abscess, Abnormal testis morphology ORPHA:54251
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Tarp Syndrome
Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Deep palmar ... OMIM:311900
Bardet-Biedl Syndrome 3
Brachydactyly, Postaxial polydactyly OMIM:600151
47,Xyy Syndrome
Hyperactivity, Micropenis, Hypospadias, Oligospermia, Varicocele, Attention deficit hyperactivity... ORPHA:8
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... OMIM:613091
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Postaxial polydactyly, Broad distal phalanx of finger, Ventricular septal def... ORPHA:404440
Mayer-Rokitansky-Küster-Hauser Syndrome
Unilateral renal agenesis, Hypoplasia of the vagina, Horseshoe kidney, Ectopic kidney, Aplasia of... ORPHA:3109
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Hypoplastic pelvis, Rhizomelia, Patent ductus arteri... OMIM:616300
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly, Abnormal heart morphology ORPHA:531151
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia ORPHA:391307
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Abnormally low T cell receptor ... ORPHA:276
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia OMIM:619752
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Hematuria, Acute kidney injury, Anemia, Thrombocytopenia ORPHA:91547
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Lymphopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly ORPHA:169160
Vaginal Atresia
Bicornuate uterus, Imperforate hymen, Uterus didelphys, Cervicitis, Transverse vaginal septum, Ab... ORPHA:65681
Pgm3-Cdg
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... ORPHA:443811
Orofaciodigital Syndrome I
Myelomeningocele, Hydrocephalus, Brachydactyly, Polydactyly, Syndactyly, Clinodactyly, Radial dev... OMIM:311200
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Polydactyly, Short long bone OMIM:613819
Pseudoaminopterin Syndrome
Overlapping toe, Hydrocephalus, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyl... ORPHA:221120
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Postaxial polydactyly, Abnormal 5th metacarpal morphology, Cone-shaped... ORPHA:397715
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Lymphopenia, Thrombocytopenia, Pancytopenia, Focal segmental glomeruloscleros... OMIM:242900
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Finger clinodactyly, Brachydactyly, Syndactyly, Mesoaxial polydactyly, Cent... ORPHA:2754
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Postaxial polydactyly, Camptodactyly of finger... OMIM:249000
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Mirage Syndrome
Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, Hypoplastic... OMIM:617053
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphopenia, Splenomegaly, Hepatosplenomegaly, Abscess, Hemolytic anemia, Per... OMIM:618935
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:168558
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transf... ORPHA:35078
46,Xy Sex Reversal 4
Sex reversal, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Agonadism, Gonadal dysgen... OMIM:154230
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Urogenital sinus anomaly, Abnormal vagina morphology, Sex reversal, Midshaft hypospadias, Ambiguo... ORPHA:289548
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Rubinstein-Taybi Syndrome 1
Prominent fingertip pads, Ventricular septal defect, Single transverse palmar crease, Broad hallu... OMIM:180849
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Tetralogy of Fallot, Radioulnar synos... OMIM:192350
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal potassium wasting, Hyperactivity, Renal magnesium wasting OMIM:618314
Senior-Loken Syndrome 9
Hypoplasia of the femoral head, Polydactyly OMIM:616629
Townes-Brocks Syndrome 2
Hypospadias, Bifid uterus, Rectovaginal fistula, Crossed fused renal ectopia OMIM:617466
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Uterus didelphys, Septate vagina, Polycystic kidney dysplasia, Aplasia... ORPHA:2237
Oeis Complex
Labial hypoplasia, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male,... OMIM:258040
Cyclic Neutropenia
Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... ORPHA:2686
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary OMIM:612310
Monosomy 9Q22.3
Hydrocephalus, Polydactyly, Umbilical hernia, Palmar pits, Cardiac fibroma ORPHA:77301
Chondrodysplasia Punctata 2, X-Linked Dominant
Stippled calcification in carpal bones, Bilateral talipes equinovarus, Postaxial polydactyly, Hem... OMIM:302960
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ... ORPHA:3130
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619203
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Macroorchidism ORPHA:85327
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary OMIM:619665
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Oligohydramnios, Postaxial polydactyly OMIM:615824
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:616100
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Meier-Gorlin Syndrome 7
Bowing of the legs, 2-3 toe syndactyly, Atrial septal defect, Preaxial polydactyly, Aplasia/Hypop... OMIM:617063
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatomegaly, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Monocytosis, H... OMIM:612541
Miller-Dieker Lissencephaly Syndrome
Clinodactyly of the 5th finger, Joint contracture of the hand, Deep palmar crease, Polydactyly, C... OMIM:247200
Adnp Syndrome
Abnormality of finger, 2-3 toe syndactyly, Abnormality of toe, Brachydactyly, Polydactyly, Single... ORPHA:404448
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Lymphopenia, Hepatomegaly, Diffuse mesangial sclerosis, Splenomegaly, Aplasia of the thymus, Seve... OMIM:102700
Pallister-Hall Syndrome
Atrioventricular canal defect, Ventricular septal defect, Umbilical hernia, Polydactyly affecting... ORPHA:672
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly ORPHA:829
Fanconi Anemia, Complementation Group L
Micropenis, Unilateral renal agenesis, Renal hypoplasia, Attention deficit hyperactivity disorder... OMIM:614083
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly, Abnormal heart morphology ORPHA:314655
Orofaciodigital Syndrome V
Postaxial polydactyly, Tetralogy of Fallot, Ventricular septal defect, Postaxial hand polydactyly... OMIM:174300
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Atrial septal defect, Postaxial polydactyly, Small hand, Tapered finger, Patent ductus arteriosus... OMIM:300968
Bardet-Biedl Syndrome 1
Postaxial polydactyly, Left ventricular hypertrophy, Brachydactyly, Syndactyly, Postaxial hand po... OMIM:209900
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Hypogonadotropic h... ORPHA:432
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Impaired lymphocyte transformation with phytohemagglutinin, Lymphope... OMIM:600802
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia, Horseshoe kidney ORPHA:3320
Bardet-Biedl Syndrome 6
Syndactyly, Postaxial polydactyly OMIM:605231
Tarp Syndrome
Hypoplasia of proximal radius, Short sternum, Atrial septal defect, Talipes equinovarus, Postaxia... ORPHA:2886
Immunodeficiency 55
Neutropenia, Lymphopenia, Absent natural killer cells OMIM:617827
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Hypoplasia of the uterus, Abnormality of the ovary ORPHA:247768
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Autoimmune throm... OMIM:613179
Loeys-Dietz Syndrome 2
Hydrocephalus, Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Joint contractur... OMIM:610168
Perrault Syndrome 4
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary OMIM:615300
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Cerebrooculonasal Syndrome
Postaxial hand polydactyly, Hydrocephalus, Postaxial polydactyly, Encephalocele OMIM:605627
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Ovarian cyst, Multicystic kidney dysplasia, Renal cyst, Renal hypoplas... OMIM:614527
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Carpenter Syndrome 2
Coxa vara, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Atrial septal defect,... OMIM:614976
Cranioectodermal Dysplasia 2
Atrial septal defect, Left ventricular hypertrophy, Hydrops fetalis, Brachydactyly, Polydactyly, ... OMIM:613610
Dyrk1A-Related Intellectual Disability Syndrome
Clinodactyly of the 5th finger, Aortic valve stenosis, Arachnodactyly, Polydactyly, Ventricular s... ORPHA:464306
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Atrial septal defect, Postaxial polydactyly, Postaxial hand polydactyly, Prea... OMIM:619471
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, B lymphocytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia ORPHA:508542
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, female, Hypoplasia of the vagina, Long penis, Clit... OMIM:202010
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short tibia, Hypoplast... OMIM:617925
Legius Syndrome
Nephrolithiasis, Ovarian neoplasm, Hyperactivity, Male urethral meatus stenosis, Acute monocytic ... ORPHA:137605
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased proportion of CD4-positive T cells, Neutrophilia, Leukocytosis OMIM:617099
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Cor triatriatum, General... OMIM:619534
Staphylococcal Necrotizing Pneumonia
Leukopenia, Neutrophilia, Leukocytosis ORPHA:36238
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Membranoproliferative glomerulonephritis, Hemolytic anemia, N... OMIM:615816
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Simpson-Golabi-Behmel Syndrome, Type 1
Hydrocephalus, Short sternum, 2-3 finger syndactyly, Ventricular septal defect, Umbilical hernia,... OMIM:312870
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the uterus, Ambiguous genitalia, male, Micropenis, Hypergonadotropic hypogonadism, ... ORPHA:90796
Stromme Syndrome
Preaxial polydactyly, Hydrocephalus, Stillbirth OMIM:243605
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Lymphopenia, Leukocytosis, Hypoplasia of the thymus, Thrombocytosis, Impaired lymphocyte transfor... OMIM:243150
Kennerknecht syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Macrocytic anemia, Dilatation of renal calices, Attention deficit hyperactivity di... OMIM:614294
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the uterus, Hyperactivity ORPHA:457284
Orofaciodigital Syndrome Xiv
Atrial septal defect, Holoprosencephaly, Postaxial polydactyly, Preaxial polydactyly, Ventricular... OMIM:615948
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Bicornuate uterus, Multilobulated spleen, Renal hypoplasia, Horseshoe k... OMIM:601186
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Absent external genitalia, Hydronephrosis, Aplasia of the uterus, Aplasia of th... OMIM:271520
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Patent ductus arteriosus, Clinodactyly, Patent foramen ovale, Abnormal hea... OMIM:618460
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Hepatomegaly, Neutrophilia, Splenomegaly OMIM:612852
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Urogenital sinus anomaly, Precocious puberty in females, Ambiguous genitalia, female, Abnormal ex... ORPHA:90794
Exstrophy-Epispadias Complex
Cystocele, Bifid scrotum, Abnormality of the ureter, Bifid uterus, Bladder exstrophy, Absent peni... ORPHA:322
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Palmoplantar hyperhidrosis, Postaxial polydactyly, Long fingers, Single transverse palmar crease,... OMIM:617527
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Postaxial polydactyly, Ventricu... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Atrial septal defect, Talipes equinovarus, Postaxial polydactyly, Ventricu... ORPHA:352665
Renal Cysts And Diabetes Syndrome
Nephrolithiasis, Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Unilateral re... OMIM:137920
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:617591
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Ureteral duplication, Horseshoe kidney, Aplasia o... OMIM:274000
Whim Syndrome
Lymphopenia, Cervix cancer, Abnormality of neutrophil morphology, Neutropenia ORPHA:51636
Histidinemia
Histidinuria, Hyperactivity ORPHA:2157
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Short clavicles, Postaxial polydactyly, Atrioventricular canal defect, Cone-shaped epiphysis, Bra... OMIM:617088
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Abnormal pulmonary valve morphology, Aortic valve stenosis, Abnormality of toe, Polydactyly, Tape... ORPHA:268261
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Abnormal mitochondrial shape, Short humerus, Polydactyly, Patent ductus arteriosus, ... ORPHA:17
Familial Mediterranean Fever
Nephrotic syndrome, Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Stage 5 chr... OMIM:249100
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Kinsship Syndrome
Dislocated radial head, Polydactyly, Single transverse palmar crease, Mesomelia, Fibular hypoplas... OMIM:619297
Ataxia-Telangiectasia
Lymphopenia, Hypoplasia of the thymus, T lymphocytopenia, Acute lymphoblastic leukemia, Decreased... OMIM:208900
Rabson-Mendenhall Syndrome
Ventricular septal defect, Polydactyly, Atrial septal defect, Cardiomyopathy ORPHA:769
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Nephropathy, Absent microvilli on the surface of peripheral blood lymp... OMIM:301000
Cranioectodermal Dysplasia 3
Brachydactyly, Syndactyly, Sandal gap, Postaxial polydactyly OMIM:614099
Degcags Syndrome
Atrial septal defect, Talipes equinovarus, Dysplastic pulmonary valve, Pulmonic stenosis, Syndact... OMIM:619488
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Sweet Syndrome
Neutrophilia, Leukocytosis, Sterile abscess, Chronic lymphatic leukemia, Anemia, Acute myeloid le... ORPHA:3243
Popliteal Pterygium Syndrome
Hypoplasia of the uterus, Bifid scrotum, Small scrotum, Hypoplasia of the vagina, Cryptorchidism,... OMIM:119500
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Pontocerebellar Hypoplasia Type 7
Micropenis, Gonadal dysgenesis, Absent penis, Ambiguous genitalia, Abnormal scrotal rugation, Cli... ORPHA:284339
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Adducted thumb, Pulmonic sten... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Adducted thumb, Pulmonic sten... ORPHA:353277
Dyskeratosis Congenita, Autosomal Dominant 1
Anemia, Thrombocytopenia, Aplastic anemia, Lymphopenia OMIM:127550
Neurocardiofaciodigital Syndrome
Double inlet left ventricle, Atrial septal defect, Syndactyly, Polydactyly, Tetralogy of Fallot, ... OMIM:619869
Wiskott-Aldrich Syndrome
Lymphopenia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Nephropathy, Hemolytic ane... ORPHA:906
Cardiac-Urogenital Syndrome
Micropenis, Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Enlarged kidney, Ambiguou... OMIM:618280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hepatosplenomegaly, Autoimmune... ORPHA:391487
Hyper-Igd Syndrome
Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Hepatosplenomegaly, Elevated urin... OMIM:260920
Wiskott-Aldrich Syndrome, Autosomal Dominant
Lymphopenia, Nephropathy, Absent microvilli on the surface of peripheral blood lymphocytes, Decre... OMIM:600903
Myoectodermal Gonadal Dysgenesis Syndrome
Hypoplasia of the uterus, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Gonad... OMIM:618419
Choanal Atresia
Polydactyly ORPHA:137914
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Faciocardiomelic Syndrome
Hypoplastic pelvis, Common atrium, Polydactyly, Slender long bone OMIM:612731
3Mc Syndrome 3
Preaxial polydactyly, Clinodactyly, Radioulnar synostosis OMIM:248340
Okamoto Syndrome
Abnormal mitral valve morphology, Aortic valve stenosis, Primum atrial septal defect, Polydactyly... ORPHA:2729
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis ORPHA:2879
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:609441
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Micropenis, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadi... OMIM:241080
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Overlapping toe, Atrial septal defect, Curved fingers, Slender finger, Postaxial polydactyly, Sma... ORPHA:480880
Coffin-Siris Syndrome 9
Hypoplasia of the uterus OMIM:615866
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Linear Skin Defects With Multiple Congenital Anomalies 1
Chordee, Hypoplasia of the uterus, Micropenis, Hypospadias, Ovotestis, Clitoral hypertrophy OMIM:309801
Lacrimoauriculodentodigital Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the radius, Partial duplication of thumb phalanx, 2... OMIM:149730
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Streak ovary, Micropenis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Bifid uterus, Accessory spleen, Hydronephrosis OMIM:236680
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Townes-Brocks Syndrome 1
Bifid scrotum, Hypospadias, Bifid uterus, Multicystic kidney dysplasia, Rectoperineal fistula, Re... OMIM:107480
Ehlers-Danlos Syndrome, Vascular Type
Uterine prolapse, Cryptorchidism, Uterine rupture, Cystocele, Cervical insufficiency, Anemia OMIM:130050
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal digit morphology, Polydactyly, Holoprosencephaly ORPHA:95494
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Orchitis, Leukopenia, Hematuria, Epididym... ORPHA:99827
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Clinodactyly of the 5th finger, Abnormality of the hand, Brachydact... OMIM:607932
Coffin-Siris Syndrome 1
Hypospadias, Hydroureter, Renal hypoplasia, Clitoral hypertrophy, Ectopic kidney, Hydronephrosis,... OMIM:135900
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus OMIM:110100
Wolf-Hirschhorn Syndrome
Precocious puberty, Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism OMIM:194190
Yellow Fever
Neutrophilia, Leukocytosis, Pancreatic hyperplasia, Renal insufficiency, Acute kidney injury, Thr... ORPHA:99829
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Anteriorly displaced genitalia, Hypospadias, Aplasia of the uterus, Cryptorchidism, Small scrotum OMIM:276820
Neu-Laxova Syndrome 1
Bifid uterus, Cryptorchidism OMIM:256520
Norrie Disease
Cryptorchidism, Attention deficit hyperactivity disorder, Uterine rupture ORPHA:649
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypergonadotropic hypogonadism, Polycystic ovaries, Hypoplasia of the uterus, Streak ovary ORPHA:572333
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Bladder diverticulum, Cystocele, Uterine rupture, Hypospadias, Renovascular hyp... ORPHA:286
Peters-Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Hypoplasia of the vagina, Ureteral duplication, Clitoral h... OMIM:261540
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Peters Plus Syndrome
Hypoplasia of the uterus, Hypospadias, Multicystic kidney dysplasia, Ureteral duplication, Clitor... ORPHA:709
Pallister-Killian Syndrome
Labial hypoplasia, Hypospadias, Renal cyst, Aplasia of the upper vagina, Hypoplastic labia majora... OMIM:601803
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Broad hallux, Postaxial hand polydactyly, Patent ductus arteriosus, Po... ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for C2cd3

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 C2cd3.

No publications found that use IMPC mice or data for C2cd3.

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MGI Allele Allele Type Produced
C2cd3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
C2cd3em1(IMPC)Tcp Exon Deletion Mice
C2cd3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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