Gene Summary

Name:
CBY1 interacting BAR domain containing 1
Synonyms:
Fam92a,  6720467C03Rik

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
decreased erythrocyte cell number Cibar1tm1b(KOMP)Wtsi HOM Early adult 5.33×10-06
decreased circulating glycerol level Cibar1tm1b(KOMP)Wtsi HOM Early adult 3.67×10-05
increased circulating alkaline phosphatase level Cibar1tm1b(KOMP)Wtsi HOM   Early adult 8.38×10-06
improved glucose tolerance Cibar1tm1b(KOMP)Wtsi HOM Early adult 2.56×10-06
decreased hemoglobin content Cibar1tm1b(KOMP)Wtsi HOM Early adult 4.60×10-05
decreased total body fat amount Cibar1tm1b(KOMP)Wtsi HOM Early adult 1.93×10-06
decreased hematocrit Cibar1tm1b(KOMP)Wtsi HOM Early adult 6.91×10-05
abnormal humerus morphology Cibar1tm1b(KOMP)Wtsi HOM Early adult 8.54×10-10
increased lean body mass Cibar1tm1b(KOMP)Wtsi HOM Early adult 1.53×10-06
decreased leukocyte cell number Cibar1tm1b(KOMP)Wtsi HOM Early adult 8.63×10-09
increased circulating amylase level Cibar1tm1b(KOMP)Wtsi HOM   Early adult 5.67×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 1)
Aorta N/A heterozygote 0.0% (0 of 1)
Blood vessel N/A heterozygote 0.0% (0 of 1)
Bone N/A heterozygote 0.0% (0 of 1)
Brain N/A heterozygote 100% (1 of 1)
Brainstem N/A heterozygote 0.0% (0 of 1)
Brown adipose tissue N/A heterozygote 0.0% (0 of 1)
Cartilage tissue N/A heterozygote 0.0% (0 of 1)
Cerebellum N/A heterozygote 100% (1 of 1)
Cerebral cortex N/A heterozygote 0.0% (0 of 1)
Eye N/A heterozygote 0.0% (0 of 1)
Gall bladder N/A heterozygote 0.0% (0 of 1)
Heart N/A heterozygote 0.0% (0 of 1)
Hippocampus N/A heterozygote 100% (1 of 1)
Hypothalamus N/A heterozygote Ambiguous
Kidney N/A heterozygote 0.0% (0 of 1)
Large intestine N/A heterozygote 0.0% (0 of 1)
Liver N/A heterozygote 0.0% (0 of 1)
Lower urinary tract N/A heterozygote 0.0% (0 of 1)
Lung N/A heterozygote 0.0% (0 of 1)
Lymph node N/A heterozygote 0.0% (0 of 1)
Mammary gland N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 1)
Olfactory lobe N/A heterozygote 0.0% (0 of 1)
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote Not available
Pancreas N/A heterozygote 0.0% (0 of 1)
Parathyroid gland N/A heterozygote 0.0% (0 of 1)
Peripheral nervous system N/A heterozygote 0.0% (0 of 1)
Peyer's patch N/A heterozygote 0.0% (0 of 1)
Pituitary gland N/A heterozygote 0.0% (0 of 1)
Prostate gland N/A heterozygote 0.0% (0 of 1)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 1)
Skin N/A heterozygote 0.0% (0 of 1)
Small intestine N/A heterozygote 0.0% (0 of 1)
Spinal cord N/A heterozygote 0.0% (0 of 1)
Spleen N/A heterozygote 0.0% (0 of 1)
Stomach N/A heterozygote 0.0% (0 of 1)
Striatum N/A heterozygote 100% (1 of 1)
Testis N/A heterozygote 100% (1 of 1)
Thymus N/A heterozygote 0.0% (0 of 1)
Thyroid gland N/A heterozygote 0.0% (0 of 1)
Trachea N/A heterozygote 0.0% (0 of 1)
Uterus N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 1)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Slit Lamp

6 Images

Anti-nuclear antibody assay

Images

6 Images

DSS Histology

Images

6 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

Ear epidermis immunophenotyping

Images

9 Images

Legacy Phenotype Associated Images

View all 92 images

View all 7 images

Human diseases caused by Cibar1 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 Cibar1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219

The table below shows human diseases predicted to be associated to Cibar1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Keloids, Abnormal pelvis bone ossification,... ORPHA:166119
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal epiphysis morphology, Craniofacial osteosclerosis, Hyperostosis, Abnormal sacroiliac joi... ORPHA:324964
Melorheostosis
Atypical scarring of skin, Skeletal muscle atrophy, Failure to thrive, Ectopic ossification in mu... ORPHA:2485
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Clinodactyly of the 5... ORPHA:71289
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Hyperostosis, ... OMIM:144750
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,... ORPHA:73230
Camurati-Engelmann Disease
Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Metaphyseal dysplasia, Anorexia,... ORPHA:1328
Camurati-Engelmann Disease, Type 2
Osteopenia, Skeletal muscle atrophy, Hyperostosis, Knee flexion contracture, Hip contracture OMIM:606631
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Hemoglobin H Disease
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... OMIM:603902
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Clubbing, Periostosis OMIM:614441
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Abnormal hip bone morphology, Polydactyly, Upper limb phocomelia, Smal... ORPHA:294975
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis, Punctate palmar hyperkeratosis OMIM:106400
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Oculodentodigital Dysplasia
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... ORPHA:2710
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Small ... OMIM:618858
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u... ORPHA:3416
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Sclerosteosis
Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti... ORPHA:3152
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Umbilical hernia, Preaxial foot poly... ORPHA:65759
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Jawad Syndrome
Postaxial polydactyly, Aggressive behavior, Hallux valgus, 4-5 toe syndactyly, Single interphalan... OMIM:251255
Oslam Syndrome
Radial deviation of finger, Clinodactyly, Neoplasm, Radioulnar synostosis, Anemia, Osteosarcoma OMIM:165660
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Mul... OMIM:300244
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... OMIM:613673
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Bardet-Biedl Syndrome 11
Obesity, Polydactyly OMIM:615988
Calvarial Hyperostosis
Calvarial hyperostosis OMIM:302030
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia, Myelofibrosis... OMIM:231095
Chromosome 2Q35 Duplication Syndrome
Distal symphalangism of hands, 2-3 toe syndactyly, Cutaneous syndactyly, Sagittal craniosynostosi... OMIM:185900
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Proximal femoral epiphysiolysis, Failure to thrive, Persistence of hemoglobi... OMIM:260400
Bardet-Biedl Syndrome 14
Obesity, Polydactyly OMIM:615991
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Bardet-Biedl Syndrome 13
Obesity, Polydactyly OMIM:615990
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hyperglycemia, Syndactyly... OMIM:175700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Proteus-Like Syndrome
Thymus hyperplasia, Subcutaneous lipoma, Hyperostosis, Splenomegaly, Hemangioma, Exostoses, Shagr... ORPHA:2969
Pelger-Huet Anomaly
Short 3rd metacarpal, Giant platelets, Failure to thrive, Upper limb undergrowth, Umbilical herni... OMIM:169400
Proteus Syndrome
Mandibular hyperostosis, Cerebriform connective tissue nevus, Facial hyperostosis, Splenomegaly, ... OMIM:176920
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydipsia, Hyperglycemia, Obesity, Polydactyly, Postaxial polydactyl... OMIM:615986
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Lymphoma, Microcytic anemia, Lymphopenia, Neoplas... ORPHA:906
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Anemia, Elevated transferrin s... OMIM:606069
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Proteus Syndrome
Rib exostoses, Finger syndactyly, Decreased muscle mass, Myofibrillar myopathy, Exostosis of the ... ORPHA:744
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
X-Linked Sideroblastic Anemia
Anemia, Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly ORPHA:75563
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... OMIM:615631
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Bardet-Biedl Syndrome 10
Obesity, Polydactyly OMIM:615987
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Bardet-Biedl Syndrome 7
Clinodactyly, Obesity, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly OMIM:615984
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Calcinosis, Hyp... OMIM:211900
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Myopathy, Aplasia of the middle phalanx of the hand, Brachydactyly, Syndactyly OMIM:610140
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Osteopetrosis, Autosomal Recessive 2
Facial paralysis, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Genu va... OMIM:259710
Beta-Thalassemia
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... ORPHA:3202
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Obesity, Large for gestational age, Polydactyly, Polyphagia OMIM:617119
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... OMIM:133100
Oslam Syndrome
Increased mean corpuscular volume, Radioulnar synostosis, Clinodactyly of the 5th finger, Abnorma... ORPHA:2760
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Diastasis recti, Decreased body weight, Polydactyly, Clinodactyly of the 5th finger... ORPHA:231140
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Familial Tumoral Calcinosis
Neoplasm of the skin, Hyperostosis, Splenomegaly, Calcification of muscles ORPHA:53715
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Increased HbA2 hemoglobin, Increased bone mineral density, Decreased me... OMIM:616943
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Hypoplasia of the musculature, Reduced hemoglobin A, Extramedull... ORPHA:231226
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Skeletal muscle atrophy, Contractures of the large joints, Short femoral nec... OMIM:616716
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Ankle flexion contracture, Osteochondroma, Knee flexion contracture, Hip contracture, B-cell lymp... OMIM:620232
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Limited... OMIM:605432
Multiple Osteochondromas
Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo... ORPHA:321
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... OMIM:224120
X-Linked Hypophosphatemia
Cellulitis, Genu valgum, Bowing of the long bones, Hypophosphatemia, Tooth abscess, Vertebral hyp... ORPHA:89936
Beta-Thalassemia Major
Abnormality of iron homeostasis, Hypoplasia of the musculature, Reduced hemoglobin A, Extramedull... ORPHA:231214
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Meningioma, Nephroblastoma, Polydactyly, Hernia, Leukemia, Syndactyly OMIM:602501
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity, Attention deficit hyperactivity disorder, Tapered finger, Clinodactyly of the 5th finger... OMIM:618725
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Unconjugated hyperbili... ORPHA:232
Mandibuloacral Dysplasia
Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a... ORPHA:2457
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Sapho Syndrome
Craniofacial osteosclerosis, Hyperostosis, Neoplasm of the skeletal system, Abnormal sacroiliac j... ORPHA:793
Beta-Thalassemia Intermedia
Osteopenia, Abnormality of iron homeostasis, Extramedullary hematopoiesis, Persistence of hemoglo... ORPHA:231222
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Inclusion body fibromatosis, Brachydactyly, Osteolysis involving bones of the upper... ORPHA:88630
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Sturge-Weber Syndrome
Capillary hemangioma, Hyperostosis, Attention deficit hyperactivity disorder, Dysphagia, Visceral... ORPHA:3205
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Alpha-Thalassemia
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... ORPHA:846
Caffey Disease
Cellulitis, Cortical irregularity, Periosteal thickening of long tubular bones, Calvarial hyperos... ORPHA:1310
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Patchy osteosclerosis, Osteopenia, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Fractu... OMIM:112250
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Abdominal Obesity-Metabolic Syndrome 4
Obesity, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:618620
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Aplastic anemia, Patellar aplasia, Melanoma, Neutropenia, Calcinosis, Leuke... ORPHA:221008
Diamond-Blackfan Anemia 21
Short toe, Sandal gap, Preaxial hand polydactyly, Osteosarcoma, Obesity, Genu valgum, Erythroid h... OMIM:620072
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Erythrocytosis, Familial, 2
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell ma... OMIM:263400
Van Buchem Disease
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis OMIM:239100
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Clinodactyly, Failure to thrive, Lower limb hypertonia, Pancyt... ORPHA:2169
Mandibuloacral Dysplasia With Type B Lipodystrophy
Insulin-resistant diabetes mellitus, Generalized lipodystrophy, Hyperglycemia, Decreased adipose ... OMIM:608612
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Short toe, Failure to thrive, Microcytic anemia, Talipes equinovarus, Flexion con... ORPHA:98791
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Congenital diaphragmatic hernia, Decreased skull ossification, Omphalocele, Abnor... OMIM:601163
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age OMIM:619278
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Rhizomelia, Metaphyseal cupping, Radial bowing, Short femoral neck, Broad hallux, Flared metaphys... OMIM:618019
Czech Dysplasia
Short toe, Osteochondroma, Flat capital femoral epiphysis, Narrow iliac wing, Coxa vara, Narrow f... OMIM:609162
Juvenile Paget Disease
Coarse metaphyseal trabecularization, Cranial hyperostosis, Hyperuricemia, Bowing of the long bon... ORPHA:2801
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Bowing of the long... ORPHA:249
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Aplastic anemia, Patellar aplasia, Aplasia/hypoplasia involving bones of th... ORPHA:221016
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Short thumb, Failure to thrive, Persistence of hemoglobin F, M... OMIM:612561
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calci... OMIM:222765
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Osteopetrosis, Autosomal Recessive 5
Flared metaphysis, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly, Pancyt... OMIM:259720
Bardet-Biedl Syndrome 16
Obesity, Polydactyly OMIM:615993
Bone Marrow Failure Syndrome 3
Congenital hip dislocation, Aplastic anemia, Increased mean corpuscular volume, Failure to thrive... OMIM:617052
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... OMIM:112350
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Oncogenic Osteomalacia
Neurofibroma, Abnormality of the tarsal bones, Abnormal femur morphology, Neoplasm of head and ne... ORPHA:352540
Poland Syndrome
Hypoplasia of latissimus dorsi muscle, Absence of pectoralis minor muscle, Hypoplasia of deltoid ... OMIM:173800
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Failure to thrive, Splenomegaly, Anemia of inadequate production, Calvarial hyperosto... OMIM:612714
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Rhizomelic arm shortening, Lymphopenia, Leukopenia, Myelodysplasia, Short humerus, Reticulocytope... ORPHA:508542
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Neutrop... ORPHA:124
Werner Syndrome
Osteosarcoma, Meningioma, Elevated hemoglobin A1c, Hypertriglyceridemia, Osteoporosis, Reduced bo... OMIM:277700
Rothmund-Thomson Syndrome, Type 3
Short distal phalanx of finger, Osteopenia, Decreased body weight, Talipes equinovarus, Short dig... OMIM:615789
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Orofaciodigital Syndrome Viii
Hamartoma, Syndactyly, Short tibia, Polydactyly OMIM:300484
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormal long bone morphology, E... ORPHA:52430
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Subperiosteal ... OMIM:114000
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... ORPHA:2831
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Hypoplastic ischia, Polydactyly OMIM:616910
Joubert Syndrome 20
Postaxial polydactyly, Aggressive behavior, 4-5 toe syndactyly, Self-mutilation OMIM:614970
Seckel Syndrome 10
Insulin resistance, Cone-shaped epiphysis, Slender long bone, Glycosuria, Glucose intolerance, Me... OMIM:617253
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Scapuloh... OMIM:602471
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Short distal phalanx of the 5th finger, Short metacarpa... OMIM:620662
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Nephronophthisis 15
Obesity, Polydactyly OMIM:614845
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Polydipsia, Mesoaxial hand polydactyly, Obesity, Polydactyly, Brachyd... OMIM:615994
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Failure to thrive, Wrist flexion contracture, Bowed h... OMIM:609465
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Self-mutilation, Single transverse palmar crease, Hip dysplasia, Overweight... ORPHA:457240
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Inguinal hernia, Polydactyly, Flattened epiphysi... OMIM:607131
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Failure to thrive, Umbilical hernia, Large for gestational age, Thrombocytopenia, Neutropenia, An... OMIM:614520
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck, Neoplasm of the thyr... ORPHA:99867
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Hypoglycemia, Inguinal hernia, Polydactyly, Attention deficit hyp... ORPHA:397590
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Diamond-Blackfan Anemia 1
Persistence of hemoglobin F, Small thenar eminence, Neutropenia, Basal cell carcinoma, Hypoplasti... OMIM:105650
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Ziegler-Huang Syndrome
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F OMIM:620501
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Morgagni-Stewart-Morel Syndrome
Obesity, Hyperuricemia, Hypercholesterolemia, Osteoporosis, Hyperostosis frontalis interna, Diabe... ORPHA:77296
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Poems Syndrome
Polycythemia, Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Sclerosis of... ORPHA:2905
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Sandal gap, Cranial hyperostosis, Splenomegaly, Nephroblastoma, Lipoma OMIM:612918
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Silver-Russell Syndrome 1
Short middle phalanx of the 5th finger, Nephroblastoma, Testicular seminoma, Fasting hypoglycemia... OMIM:180860
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Osteopetrosis, Anemia, Di... OMIM:259730
Lead Poisoning
Imbalanced hemoglobin synthesis, Cranial hyperostosis, Decreased HDL cholesterol concentration, I... ORPHA:330015
Bent Bone Dysplasia Syndrome 2
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... OMIM:620076
Prader-Willi Syndrome
Small hand, Clinodactyly, Decreased muscle mass, Decreased HDL cholesterol concentration, Hyperin... OMIM:176270
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
3P25.3 Microdeletion Syndrome
Broad thumb, Skeletal muscle atrophy, Broad hallux, Overlapping toe, Knee flexion contracture, Po... ORPHA:435638
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hyperphosphatemia, Failure to thrive, Short humerus, Lateral femoral bowing, Bowing o... OMIM:239000
Hurler Syndrome
Cranial hyperostosis, Umbilical hernia, Calvarial hyperostosis, Hepatosplenomegaly, Splenomegaly,... OMIM:607014
Congenital Disorder Of Glycosylation, Type Iil
Failure to thrive, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase concentration... OMIM:614576
Paget Disease Of Bone 3
Osteosarcoma, Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Nevus Comedonicus Syndrome
Toe syndactyly, Hamartoma, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Postaxial polydacty... OMIM:258860
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodactyly OMIM:614815
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma, Arachnodactyly, Camptodactyly of toe, Wide femoral metaphysis, Camptodactyly OMIM:610474
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Legius Syndrome
Acute monocytic leukemia, Xanthelasma, Vestibular schwannoma, Nephroblastoma, Polydactyly, Attent... ORPHA:137605
20P13 Microdeletion Syndrome
Finger syndactyly, Clinodactyly, Failure to thrive in infancy, Decreased body weight, Polydactyly... ORPHA:313781
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Congenital dia... OMIM:618022
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Obesity, Brachydactyly, Short long bone OMIM:615633
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Self-injurious behavior, Macroglossia, Abnormal hemoglobin, Talipes equinovarus, Brachydactyly, A... ORPHA:847
Senior-Loken Syndrome 9
Polydactyly, Obesity, Osteopenia, Hypoplasia of the femoral head OMIM:616629
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... OMIM:605282
Limb-Mammary Syndrome
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly OMIM:603543
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Osteopenia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd f... OMIM:620663
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia, Overweight, Persistence of hemoglobin F OMIM:619769
Osteogenesis Imperfecta, Type Xvii
Dentinogenesis imperfecta, Thin metacarpal cortices, Decreased muscle mass, Bowed humerus, Osteop... OMIM:616507
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Obesity, Diabetes mellitus, Syndactyly OMIM:605231
Poland Syndrome
Small hand, Acute leukemia, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... ORPHA:2911
Atypical Werner Syndrome
Neoplasm of the skin, Insulin-resistant diabetes mellitus, Sclerosis of hand bone, Neoplasm of th... ORPHA:79474
Kyphomelic Dysplasia
Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowing, Tibial bow... OMIM:211350
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Radial deviation of finger, Clinodactyly, HbH hemoglobin, Umbilical hernia, Talipes equinovarus, ... OMIM:301040
Laurence-Moon Syndrome
Abnormality of the hand, Obesity, Polydactyly OMIM:245800
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Hamartoma of tongue, Acetabular s... OMIM:613091
Pseudohypoparathyroidism Type 1A
Hyperphosphatemia, Polyphagia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, E... ORPHA:79443
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Neoplasm, Diabetes mellitus, Osteosarcoma OMIM:601811
Hamamy Syndrome
Osteopenia, Hypochromic anemia, Microcytic anemia, Inguinal hernia, Down-sloping shoulders, Long ... OMIM:611174
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Decreased HDL cholesterol concentration, Hyperglycemia, Obes... OMIM:203800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Umbilical hernia, Aplasia of... OMIM:308050
Suleiman-El-Hattab Syndrome
Clinodactyly, Failure to thrive, Inguinal hernia, Single transverse palmar crease, Polydactyly, B... OMIM:618950
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Glabellar hemangioma, Limited elbow flexion, Rhizomelic... OMIM:164745
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Finger syndactyly, Cranial hyperostosis, Facial hyperostosis, Abnormal dental ... ORPHA:2658
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Obesity, Brachydactyly OMIM:600151
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F OMIM:617101
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Sandal gap, Failure to thrive, Hypoglycemia, Hypocalcemia, Short humerus... OMIM:607143
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Polydipsia, Insulin-resistant diabetes mellitus, ... ORPHA:769
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Hyperphosphatemia, Calvarial hyperostosis, Long hallux, Cone-shaped ep... OMIM:101800
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Omp... OMIM:617895
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Failure to t... OMIM:277170
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Oculodentodigital Dysplasia
Clinodactyly, 3-4 toe syndactyly, Joint contracture of the 5th finger, Cubitus valgus, Vertebral ... OMIM:164200
Bloom Syndrome
Lymphoma, Elevated hemoglobin A1c, Type II diabetes mellitus, Hand polydactyly, Squamous cell car... OMIM:210900
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Splenomegaly, Inguinal hernia, Brachydactyly, Right ventricular ... OMIM:616028
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Retinitis Pigmentosa 51
Obesity, Polydactyly OMIM:613464
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Atelosteogenesis, Type I
Rhizomelia, Radial bowing, Elbow dislocation, Short finger, Fibular aplasia, Tibial bowing, Short... OMIM:108720
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po... OMIM:614175
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Dysplastic patella, Patellar aplasia, Congenital diaphr... OMIM:265000
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Short humerus, Short palm ORPHA:93328
Joubert Syndrome 23
Polydactyly OMIM:616490
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Hip dislocation, Syndacty... OMIM:146510
Adnp Syndrome
Abnormal temper tantrums, Broad thumb, Sandal gap, Broad hallux, Umbilical hernia, Oral-pharyngea... ORPHA:404448
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hyperbilirubinemia, Hip ... OMIM:210710
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Khan-Khan-Katsanis Syndrome
Clinodactyly, Failure to thrive, Lymphopenia, Corneal scarring, Postaxial polydactyly, Neutropeni... OMIM:618460
Tolchin-Le Caignec Syndrome
Umbilical hernia, Cardiac rhabdomyoma, Diastasis recti, Osteochondroma, Arachnodactyly, Attention... OMIM:618971
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... OMIM:142900
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Joubert Syndrome 16
Polydactyly OMIM:614465
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Joubert Syndrome 27
Polydactyly OMIM:617120
Choanal Atresia
Craniosynostosis, Choking episodes, Polydactyly ORPHA:137914
Bardet-Biedl Syndrome 1
Insulin resistance, Postaxial foot polydactyly, Radial deviation of finger, Obesity, Postaxial po... OMIM:209900
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Alpha-Mannosidosis, Infantile Form
Osteopenia, Macroglossia, Cranial hyperostosis, Umbilical hernia, Hepatosplenomegaly, Genu valgum... ORPHA:309282
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Carpal synostosis, Limited elbow ex... OMIM:272460
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Failure to thrive, Hypog... ORPHA:17
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Basal Cell Nevus Syndrome 1
Palmar pits, Basal cell carcinoma, Short distal phalanx of the thumb, Hamartomatous stomach polyp... OMIM:109400
Meckel Syndrome, Type 8
Talipes equinovarus, Polydactyly OMIM:613885
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Hemiatrophy, Stippled calc... OMIM:302960
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Failure to thrive, Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly,... OMIM:615503
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Omphalocele, Postaxial hand polydactyly OMIM:603194
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short 4th toe, Failure to thrive, Short humerus, Brachydactyly, Short lower... ORPHA:420794
Degcags Syndrome
Toe syndactyly, Oral-pharyngeal dysphagia, Hepatosplenomegaly, Genu valgum, Pancytopenia, Hyperbi... OMIM:619488
Monosomy 9Q22.3
Palmar pits, Umbilical hernia, Large for gestational age, Medulloblastoma, Nephroblastoma, Polyda... ORPHA:77301
Hyperostosis Cranialis Interna
Osteosclerosis of the base of the skull, Facial palsy, Hyperostosis cranialis interna, Calvarial ... OMIM:144755
Trichorhinophalangeal Syndrome, Type Ii
Multiple long-bone exostoses, Osteopenia, 2-4 toe syndactyly, Rib exostoses, Cone-shaped epiphyse... OMIM:150230
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Obesity, Inguinal hernia, P... OMIM:181450
Orofaciodigital Syndrome Type 6
Failure to thrive, Finger clinodactyly, Preaxial polydactyly, Hamartoma of tongue, Hand polydacty... ORPHA:2754
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ... OMIM:218330
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Hip dysplasia, Polydactyly ORPHA:531151
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Genu valgum, Short humerus, Enamel hypoplasia, Meta... OMIM:600373
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:607361
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Bladder carcinoma, Genu valgum, Limited elbow ... OMIM:304150
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hamartoma of tongue, Hypopl... OMIM:616300
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Lymphoma, Failure to thrive in infancy, Aplasia... ORPHA:1225
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Failure to thrive, Flared metaphysis, Cone-... OMIM:309350
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Talipes equinovarus, Leukemia, Dislocated radial head, Synda... OMIM:180849
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Short tubular bones of the hand, ... ORPHA:56305
Kinsship Syndrome
Osteopenia, Failure to thrive, Bruxism, Single transverse palmar crease, Polydactyly, Fibular hyp... OMIM:619297
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Extramedullary hematopoiesis, Fai... ORPHA:2886
Helsmoortel-Van Der Aa Syndrome
Small hand, Genu valgum, Polyphagia, Dysphagia, Motor stereotypy, Prominent fingertip pads, Obesi... OMIM:615873
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone, Flexion contracture OMIM:619479
Congenital Sialidosis Type 2
Hepatosplenomegaly, Umbilical hernia, Inguinal hernia, Polydactyly ORPHA:93400
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Obesity, 2-3 toe syndactyly, Postaxial polydactyly, Hypercholesterolem... OMIM:619471
Rhombencephalosynapsis
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly ORPHA:59315
Meckel Syndrome 14
Postaxial foot polydactyly, Decreased calvarial ossification, Bowing of the long bones, Postaxial... OMIM:619879
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Proximal placement of thumb, Short humerus, Absent radius OMIM:314390
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Failure to thrive, Inguinal hernia, Single transverse palmar creas... OMIM:247200
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand polydactyly, Campto... OMIM:134780
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Finger aplasia, Hand polydactyly, Hemangioma, Syndactyly OMIM:149000
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Small for gestational age, Failure to thrive, Multiple joint contractures, Polyda... ORPHA:464306
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Sagittal c... OMIM:614099
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Polysplenia, Hyperbilirubinemia, Splenomegaly, Inguinal hernia, Polydac... OMIM:613610
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Umbilical hernia, Ulnar deviation of the 2nd finger, ... OMIM:616145
Rothmund-Thomson Syndrome, Type 2
Congenital hip dislocation, Small hand, Short thumb, Talipes equinovarus, Squamous cell carcinoma... OMIM:268400
Tukel Syndrome
Carpal synostosis, Congenital fibrosis of extraocular muscles, Postaxial oligodactyly, Carpal bon... OMIM:609428
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Polydactyly OMIM:615989
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Generalized amyotrophy, Small for gestational age, Clinodactyly, Slender long b... OMIM:264090
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Umbilical hernia, Cutaneous finger syndactyly, Obesity, Bilate... OMIM:614976
Faciocardiomelic Syndrome
Osteopenia, Slender long bone, Large for gestational age, Hypoplastic pelvis, Polydactyly, Thin b... OMIM:612731
Mend Syndrome
Broad hallux, Failure to thrive, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe synda... OMIM:300960
Meckel Syndrome, Type 1
Accessory spleen, Elevated amniotic fluid alpha-fetoprotein, Postaxial foot polydactyly, Clinodac... OMIM:249000
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Patellar aplasia, Limited elbow movement, Aphalan... OMIM:218600
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Abnormal metacarpal morphology, Absent radius, Syndactyly, Ankle flexion contractur... OMIM:268300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad thumb, Motor stereotypy, Syndactyly, Self-injurious behavior, Keloids, Avascular necrosis o... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad thumb, Motor stereotypy, Syndactyly, Self-injurious behavior, Keloids, Avascular necrosis o... ORPHA:353277
Alkaptonuria
Hemolytic anemia, Thickened Achilles tendon, Methemoglobinemia, Tendon rupture, Reduced bone mine... ORPHA:56
Omodysplasia 1
Rhizomelia, Short tibia, Limited elbow flexion, Umbilical hernia, Limited elbow extension, Short ... OMIM:258315
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Hamartoma of tongue, Polydactyly, Enamel hypoplasia, Br... OMIM:311200
Wiedemann-Rautenstrauch Syndrome
Slender build, Type II diabetes mellitus, Reduced subcutaneous adipose tissue, Hypoplastic ilia, ... ORPHA:3455
Retinoblastoma
Cellulitis, Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarc... ORPHA:790
Joubert Syndrome 39
Postaxial polydactyly, Overweight, Joint contracture of the 5th finger OMIM:619562
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Congenital diaphragmatic hernia, Talipes equinovarus, 2-3 finger syndactyly, Hepatob... OMIM:312870
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, 2-4 toe cutaneous syndactyly, Failure to thrive in infancy, Inguinal hernia, Polyd... ORPHA:268261
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis OMIM:601345
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Splenomegaly, Postaxial polydactyly, Short clavicles, Brachydactyly, Short... OMIM:617088
Mullegama-Klein-Martinez Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Polydactyly, Attention deficit hyperactivity ... OMIM:301022
Charge Syndrome
Bifid femur, Umbilical hernia, Abnormal tibia morphology, Polydactyly, Attention deficit hyperact... ORPHA:138
Retinitis Pigmentosa 74
Obesity, Polydactyly OMIM:616562
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Umbilical hernia, Inguinal hernia, Absent distal phalanges, Arachn... OMIM:610168
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Tapered finger, Dysphagia, Short humerus, Short femur OMIM:618367
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Fibular aplasia, Humeroradial synostosis, Short humerus, Talipe... ORPHA:3404
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Osteopenia, Broad thumb, Failure to thrive, Increased circulating ferritin conce... OMIM:619534
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Elbow flexion contracture, Short humerus, Calcaneal epiphyseal stippl... OMIM:117650
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Toe syndactyly, Finger syndactyly, Failure to thrive, Thumb contract... OMIM:607932
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... OMIM:149730
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Hypoglycemia, Abnormal digit morphology, Polydactyly, Osteoporosis of vertebrae ORPHA:95494
Neurocardiofaciodigital Syndrome
Polydactyly, Small for gestational age, Failure to thrive, Syndactyly OMIM:619869
Okamoto Syndrome
Hip dysplasia, Splenomegaly, Omphalocele, Polydactyly ORPHA:2729
Alström Syndrome
Insulin resistance, Short toe, Short finger, Hepatosplenomegaly, Dorsocervical fat pad, Obesity, ... ORPHA:64

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 Cibar1

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 Cibar1.

No publications found that use IMPC mice or data for Cibar1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Cibar1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice
Cibar1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter