Gene Summary

CBY1 interacting BAR domain containing 1
Fam92a,  6720467C03Rik

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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 leukocyte cell number Cibar1tm1b(KOMP)Wtsi HOM Early adult 1.31×10-08
decreased erythrocyte cell number Cibar1tm1b(KOMP)Wtsi HOM Early adult 1.48×10-05
decreased circulating glycerol level Cibar1tm1b(KOMP)Wtsi HOM Early adult 3.67×10-05
decreased total body fat amount Cibar1tm1b(KOMP)Wtsi HOM Early adult 1.93×10-06
increased circulating amylase level Cibar1tm1b(KOMP)Wtsi HOM   Early adult 5.67×10-05
abnormal humerus morphology Cibar1tm1b(KOMP)Wtsi HOM Early adult 8.54×10-10
decreased hemoglobin content Cibar1tm1b(KOMP)Wtsi HOM Early adult 4.62×10-05
increased lean body mass Cibar1tm1b(KOMP)Wtsi HOM Early adult 1.53×10-06
decreased hematocrit Cibar1tm1b(KOMP)Wtsi HOM Early adult 7.21×10-05
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

Download data as:  TSV  XLS

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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 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
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.

Anti-nuclear antibody assay


6 Images

Eye Morphology

Images Slit Lamp

6 Images

Eye Morphology

Images Ophthalmoscopy

1 Images

DSS Histology


6 Images

Ear epidermis immunophenotyping


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
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
Matching phenotypes Source
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Isolated Osteopoikilosis
Sclerosis of foot bone, Increased bone mineral density, Abnormal long bone morphology, Sclerotic ... ORPHA:166119
Syndactyly Type 2
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... ORPHA:93403
Synpolydactyly 1
Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh... OMIM:186000
Non Rare In Europe: Buschke-Ollendorff Syndrome
Craniosynostosis, Generalized osteosclerosis, Hemangioma, Abnormal metaphysis morphology, Hyperos... ORPHA:1306
Polydactyly, Preaxial Ii
Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,... OMIM:174500
Increased bone mineral density, Skeletal muscle atrophy, Hyperostosis, Failure to thrive, Ectopic... ORPHA:2485
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Craniofacial osteosclerosis, Osteolysis, Abnormal metaphysis morphology, Anemia, Abnormal sacroil... ORPHA:324964
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Finger syndactyly, Amegakaryocytic thrombocytopenia, Radioulnar synostosis, Clinod... ORPHA:71289
Endosteal Hyperostosis, Autosomal Dominant
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o... OMIM:144750
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Abnormal cortical bone morphology, Ane... ORPHA:1802
Polydactyly, Postaxial, Type A1
Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po... OMIM:174200
Symphalangism With Multiple Anomalies Of Hands And Feet
Short distal phalanx of hallux, Small thenar eminence, Aplasia/Hypoplasia of the distal phalanx o... ORPHA:3246
Congenital Radioulnar Synostosis
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... ORPHA:3269
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Short distal phalanx of finger, Hepatic hemangioma, Triangular shaped distal phalanges of the han... ORPHA:73230
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Knee flexion contracture, Hyperostosis, Osteopenia, 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
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia ORPHA:231393
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... OMIM:603902
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Syndactyly, Type Iv
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... OMIM:186200
Camurati-Engelmann Disease
Abnormality of the humerus, Slender build, Abnormal diaphysis morphology, Cachexia, Abnormal morp... ORPHA:1328
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Clubbing, Hyperostosis, Periostosis, Hypoalbuminemia OMIM:614441
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure ORPHA:46532
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly OMIM:607539
Syndactyly, Type Iii
4-5 finger syndactyly, Short 5th finger, Syndactyly, Absent middle phalanx of 5th finger OMIM:186100
Congenital Absence Of Upper Arm And Forearm With Hand Present
Small for gestational age, Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phoc... ORPHA:294975
Ankylosing Vertebral Hyperostosis With Tylosis
Punctate palmar hyperkeratosis, Vertebral hyperostosis OMIM:106400
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-peptide level, Type ... OMIM:618858
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Oculodentodigital Dysplasia
Camptodactyly of finger, Hand polydactyly, Abnormal metaphysis morphology, Abnormal cortical bone... ORPHA:2710
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Wahab Syndrome
Camptodactyly, Short thumb, Short metacarpal, Syndactyly, Adducted thumb, Short palm, Clinodactyl... OMIM:615170
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Reduced C-p... OMIM:606176
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Facial palsy, Diaphyseal thickenin... ORPHA:3416
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic... ORPHA:3152
Carpenter Syndrome
Craniosynostosis, Polydactyly, Umbilical hernia, Obesity, Finger syndactyly, Syndactyly, Polysple... ORPHA:65759
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat... OMIM:616329
Oslam Syndrome
Neoplasm, Anemia, Radioulnar synostosis, Radial deviation of finger, Osteosarcoma, Clinodactyly OMIM:165660
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... OMIM:613673
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of femur morphology, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Abnormality... ORPHA:2141
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Bardet-Biedl Syndrome 11
Polydactyly, Obesity OMIM:615988
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Chromosome 2Q35 Duplication Syndrome
3-4 finger syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 2-3 toe syndactyly, S... OMIM:185900
Shwachman-Diamond Syndrome 1
Metaphyseal chondrodysplasia, Small for gestational age, Metaphyseal sclerosis, Acute myeloid leu... OMIM:260400
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Leukopenia, Refractory anemia, Thrombocytopenia, Hyperostosis cra... OMIM:231095
Bardet-Biedl Syndrome 14
Polydactyly, Obesity OMIM:615991
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly, Metacarpal synostosis OMIM:263450
Boomerang Dysplasia
Abnormally ossified vertebrae, Abnormality of the humerus, Aplasia/Hypoplasia of the abdominal wa... ORPHA:1263
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... OMIM:618167
Terminal Osseous Dysplasia
Camptodactyly of toe, Camptodactyly of finger, Abnormal foot bone ossification, Syndactyly, Fibro... OMIM:300244
Bardet-Biedl Syndrome 13
Polydactyly, Obesity OMIM:615990
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Santos Syndrome
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... OMIM:613005
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Greig Cephalopolysyndactyly Syndrome
Craniosynostosis, Postaxial foot polydactyly, Umbilical hernia, Finger syndactyly, Preaxial foot ... ORPHA:380
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly ORPHA:846
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Umbilical hernia,... OMIM:169400
Proteus-Like Syndrome
Hemangioma, Exostoses, Hyperostosis, Subcutaneous lipoma, Thymus hyperplasia, Splenomegaly, Shagr... ORPHA:2969
Acromesomelic Dysplasia 2A
Short humerus, Aplasia/Hypoplasia of metatarsal bones, Short tibia, Short digit, Aplasia/Hypoplas... OMIM:200700
Hemochromatosis, Type 4
Elevated transferrin saturation, Impaired glucose tolerance, Anemia, Diabetes mellitus, Glucose i... OMIM:606069
Polydactyly, Preaxial Iv
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... OMIM:174700
Hypophosphatemic Rickets
Rickets, Craniofacial osteosclerosis, Hypophosphatemia, Enthesitis, Hyperostosis, Osteomalacia, O... ORPHA:437
Weismann-Netter Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Abnormality of fibula morphology, Ab... ORPHA:3344
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
X-Linked Sideroblastic Anemia
Abnormality of iron homeostasis, Glucose intolerance, Splenomegaly, Anemia ORPHA:75563
Bardet-Biedl Syndrome 9
Polyphagia, Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Obesity, Truncal obes... OMIM:615986
Proteus Syndrome
Calvarial hyperostosis, Hip dislocation, Meningioma, Myofibrillar myopathy, Cachexia, Metatarsus ... ORPHA:744
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi... ORPHA:1892
Proteus Syndrome
Calvarial hyperostosis, Hemangioma, Facial hyperostosis, Mandibular hyperostosis, Lipoma, Thin bo... OMIM:176920
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperphosphatemia, Enamel hypoplasia, Hyperostosis, Subperiosteal bone formation, Calcinosis OMIM:211900
Wiskott-Aldrich Syndrome
Hypoplasia of the thymus, Lymphoma, Neoplasm, Hemolytic anemia, Anemia, Hyperostosis, Lymphopenia... ORPHA:906
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Reticulocytosis, Anemia, Syndactyly, Anemia of inadequate production, Erythroid hyp... OMIM:615631
Maturity-Onset Diabetes Of The Young, Type 14
Elevated hemoglobin A1c, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Bardet-Biedl Syndrome 10
Polydactyly, Obesity OMIM:615987
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Failure to thrive, Thrombocytopenia, Splenomega... OMIM:615285
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Ectrodactyly, Syndactyly, Aplasia/Hypoplasia of the phala... OMIM:605289
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Camptodactyly, Finger syndactyly, Syndactyly, Short digit, Short phalanx of finger,... OMIM:610713
Jawad Syndrome
Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly,... OMIM:251255
Summitt Syndrome
Craniosynostosis, Syndactyly, Obesity OMIM:272350
Bardet-Biedl Syndrome 7
Polydactyly, Postaxial polydactyly, 2-3 toe syndactyly, Clinodactyly, Obesity OMIM:615984
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia ORPHA:318
Heart-Hand Syndrome, Slovenian Type
Myopathy, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand, Brachydactyly OMIM:610140
Reduced bone mineral density, Anemia, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, A... ORPHA:848
Osteopetrosis, Autosomal Recessive 2
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia,... OMIM:259710
Erythrocytosis, Familial, 1
Splenomegaly, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:133100
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume, Radioulnar synostosis, Osteosarcom... ORPHA:2760
Bardet-Biedl Syndrome 22
Polyphagia, Postaxial foot polydactyly, Polydactyly, Large for gestational age, Obesity OMIM:617119
Split-Hand/Foot Malformation 1
Foot oligodactyly, Ectrodactyly, Syndactyly, Broad hallux, Clinodactyly, Triphalangeal thumb, Han... OMIM:183600
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short thumb, Finger syndactyly, Synostosis of carpal bones, Aplasia/Hypoplasia of the hallux, Toe... ORPHA:157801
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Diastasis recti, Neonatal hypoglycemia, Small for gestational age, Polydactyly, Hypoglycemia, Dec... ORPHA:231140
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormality of the elbow, Humeroradial synostosis, Abnormal mor... ORPHA:2019
Bone Marrow Failure Syndrome 6
Anemia, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increased mean corpuscular volume, ... OMIM:618849
Familial Tumoral Calcinosis
Calcification of muscles, Splenomegaly, Hyperostosis, Neoplasm of the skin ORPHA:53715
Dominant Beta-Thalassemia
Hepatocellular carcinoma, Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Diabete... ORPHA:231226
Angioosteohypotrophic Syndrome
Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Hypertrophy of the upper li... ORPHA:75508
Ivic Syndrome
Pectoralis major hypoplasia, Leukocytosis, Short thumb, Carpal synostosis, Short 1st metacarpal, ... OMIM:147750
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ... OMIM:228930
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Small for gestational age, Reticulocytosis, Hemolytic anemia, Syndactyl... OMIM:224120
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Epiphyseal stippling, Failure to thrive OMIM:600121
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Reduced bone mineral density, Burkitt lymphoma, Knee flexion contracture, B-cell lymphoma, Ankle ... OMIM:620232
X-Linked Hypophosphatemia
Rickets, Abnormal lower-limb metaphysis morphology, Flared iliac wing, Bowing of the legs, Upper ... ORPHA:89936
Mandibuloacral Dysplasia
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Insulin-... ORPHA:2457
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Proximal radio-ulnar synostosis, Hip dislocation, Limited pronation/supination of forearm, Aplast... OMIM:605432
Beta-Thalassemia Intermedia
Hepatocellular carcinoma, Hepatosplenomegaly, Reduced bone mineral density, Leukocytosis, Extrame... ORPHA:231222
Beta-Thalassemia Major
Hepatocellular carcinoma, Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, ... ORPHA:231214
Sapho Syndrome
Craniofacial osteosclerosis, Osteolysis, Enthesitis, Steatorrhea, Hyperostosis, Abnormal sacroili... ORPHA:793
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Metaphyseal cupping, Skeletal muscle atrophy, Irregular capital femoral epiphysis,... OMIM:616716
Fibular Hemimelia
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... ORPHA:93323
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Meningioma, Leukemia, Syndactyly, Hernia, Nephroblastoma OMIM:602501
Neonatal hypoglycemia, Overweight, Glycosuria, Diabetic ketoacidosis, Abnormal oral glucose toler... ORPHA:552
Multiple Osteochondromas
Femoroacetabular impingement, Rib exostoses, Deformed forearm bones, Abnormal morphology of ulna,... ORPHA:321
Abdominal Obesity-Metabolic Syndrome 4
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:618620
Li-Fraumeni Syndrome
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... ORPHA:524
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Camptodactyly, Osteolysis involving bones of the lower limbs, Syndactyly, Osteolysis involving bo... ORPHA:88630
Rothmund-Thomson Syndrome Type 1
Finger symphalangism, Abnormal trabecular bone morphology, Basal cell carcinoma, Short phalanx of... ORPHA:221008
Craniometaphyseal Dysplasia, Autosomal Dominant
Metaphyseal widening, Calvarial osteosclerosis, Erlenmeyer flask deformity of the femurs, Facial ... OMIM:123000
Sturge-Weber Syndrome
Attention deficit hyperactivity disorder, Capillary hemangioma, Visceral angiomatosis, Hyperostos... ORPHA:3205
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Stenosis of the medullary cavity of the long bones, Myopathy, Metaphyseal striations, Skeletal mu... OMIM:112250
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Caffey Disease
Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Cellul... ORPHA:1310
Mandibuloacral Dysplasia With Type B Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Acroosteolysis of distal phalanges (feet), Osteolyt... OMIM:608612
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Short middle phalanx... OMIM:617927
Diamond-Blackfan Anemia 21
Hallux valgus, Hip dysplasia, Anemia, Osteosarcoma, Clinodactyly of the thumb, Obesity, Tapered f... OMIM:620072
Erythrocytosis, Familial, 2
Increased hematocrit, Increased hemoglobin, Failure to thrive, Increased red blood cell mass OMIM:263400
Acrocapitofemoral Dysplasia
Short distal phalanx of finger, Short tibia, Small finger, Flared iliac wing, Radial bowing, Hypo... OMIM:607778
Methylcobalamin Deficiency Type Cble
Osteoporosis, Syndactyly, Macrocytic anemia, Failure to thrive, Increased mean corpuscular volume... ORPHA:2169
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia, Failure to thrive, Short toe, Talipes equinovarus, Flexion con... ORPHA:98791
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age OMIM:619278
Van Buchem Disease
Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis OMIM:239100
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Abnormality of the diaphragm, Syndactyly, Omphalocele, Toe syndactyly, Decreased skull ossificati... OMIM:601163
Gaisböck Syndrome
Increased red blood cell count, Overweight, Increased circulating renin level, Hyperuricemia, Inc... ORPHA:90041
Proximal Symphalangism
Elbow ankylosis, Camptodactyly of finger, Abnormality of the wrist, Synostosis of carpal bones, F... ORPHA:3250
Rothmund-Thomson Syndrome Type 2
Finger symphalangism, Abnormal trabecular bone morphology, Basal cell carcinoma, Short phalanx of... ORPHA:221016
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... OMIM:300946
Moebius Syndrome
Clinodactyly, Congenital fibrosis of extraocular muscles, Camptodactyly, Facial diplegia, Syndact... OMIM:157900
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabetes of the young OMIM:609812
Fibrous Dysplasia Of Bone
Rickets, Abnormality of the humerus, Cutaneous myxoma, Diabetes mellitus, Increased circulating c... ORPHA:249
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metatarsal, Short metacarpal, Deformed humeral heads, Coxa vara, Brachydactyly OMIM:601438
Czech Dysplasia
Short metatarsal, Short metacarpal, Short femoral neck, Short toe, Narrow iliac wing, Osteochondr... OMIM:609162
Juvenile Paget Disease
Hyperuricemia, Osteoporosis, Coarse metaphyseal trabecularization, Cranial hyperostosis, Bowing o... ORPHA:2801
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Bardet-Biedl Syndrome 16
Polydactyly, Obesity OMIM:615993
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Multiple Synostoses Syndrome 1
Lower limb undergrowth, Absent distal phalanges, Carpal synostosis, Short hallux, Single transver... OMIM:186500
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Diamond-Blackfan Anemia 6
Short thumb, Persistence of hemoglobin F, Macrocytic anemia, Failure to thrive, Increased mean co... OMIM:612561
Brachydactyly, Type B1
Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, Synd... OMIM:113000
Bone Marrow Failure Syndrome 3
Reduced bone mineral density, Congenital hip dislocation, Hyperactivity, Aplastic anemia, Anemia,... OMIM:617052
Holt-Oram Syndrome
Aplasia of the ulna, Limited elbow extension, Short humerus, Small thenar eminence, Absent radius... OMIM:142900
Acropectoral Syndrome
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly OMIM:605967
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Increased bone mineral density, Leukocytosis, Extramedullary hematopoiesis, L... OMIM:259720
Tibial Aplasia-Ectrodactyly Syndrome
Patellar aplasia, Abnormality of fibula morphology, Ectrodactyly, Finger syndactyly, Omphalocele,... ORPHA:3329
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Syndactyly, Unilatera... OMIM:173800
Werner Syndrome
Reduced bone mineral density, Meningioma, Diabetes mellitus, Osteoporosis, Hypertriglyceridemia, ... OMIM:277700
Oncogenic Osteomalacia
Giant cell tumor of bone, Abnormality of fibula morphology, Hypophosphatemia, Carcinoma, Osteosar... ORPHA:352540
Rhizomelic Chondrodysplasia Punctata, Type 2
Decreased circulating plasmalogen concentration, Short humerus, Inguinal hernia, Osteopenia, Fail... OMIM:222765
Weismann-Netter Syndrome
Calvarial hyperostosis, Lateral femoral bowing, Anterior tibial bowing, Fibular bowing, Squared i... OMIM:112350
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Hip dysplasia, Wide distal femoral metaphysis, Short femur, Short femoral neck, Hy... OMIM:619598
Diamond-Blackfan Anemia
Short thumb, Pure red cell aplasia, Reticulocytopenia, Abnormality of the upper limb, Elevated re... ORPHA:124
Orofaciodigital Syndrome Viii
Hamartoma, Short tibia, Syndactyly, Polydactyly OMIM:300484
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Calvarial hyperostosis, Steatorrhea, Anemia of inadequate production, Osteopenia, Failure to thri... OMIM:612714
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Osteolysis, Abnormal long bone morphology, EMG: myopathic abnormalities, ... ORPHA:52430
Short Stature With Microcephaly And Distinctive Facies
Short distal phalanx of finger, Anisopoikilocytosis, Small for gestational age, Proximal placemen... OMIM:615789
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Camptodactyly, Hyposegmentation of neutrophil nuclei, Metaphyseal cuppin... OMIM:618019
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Seckel Syndrome 10
Impaired glucose tolerance, Glycosuria, Metaphyseal widening, Diabetes mellitus, Slender long bon... OMIM:617253
Caffey Disease
Calvarial hyperostosis, Subperiosteal bone formation, Cortical irregularity, Periosteal thickenin... OMIM:114000
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Short humerus, Asymmetric radial dysplasia, Absent radius, Genu varum, Phocomelia, Shoulder dislo... OMIM:171480
Shwachman-Diamond Syndrome
Metaphyseal chondrodysplasia, Diabetes mellitus, Macrocytic anemia, Proximal femoral epiphysiolys... ORPHA:811
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Leukopenia, Anemia, Neutropenia, Short metacarpal, Reticulocytopenia, Myelodysplas... ORPHA:508542
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Abnormality of the wrist, Abnormality of the elbow, Postaxial hand polydactyly, Ap... ORPHA:2491
Spondylometaphyseal Dysplasia, Algerian Type
Short greater sciatic notch, Hypoplasia of proximal radius, Flared femoral metaphysis, Short tubu... OMIM:184253
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Partial duplication of thumb phalanx, Short middle phalanx of t... OMIM:617926
Rhizomelic Dysplasia, Patterson-Lowry Type
Deviation of finger, Short humerus, Short metacarpal, Deformed humeral heads, Brachydactyly, Genu... ORPHA:2831
Aplasia of the ulna, Short humerus, Absent hand, Abnormal metaphysis morphology, Absent radius, A... ORPHA:931
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Polydactyly, Mesoaxial polydactyly, Short fourth metatarsal, Obesity,... OMIM:615994
Diamond-Blackfan Anemia 1
Short thumb, Reticulocytopenia, Macrocytic anemia, Basal cell carcinoma, Hypoplasia of the radius... OMIM:105650
Nephronophthisis 15
Polydactyly, Obesity OMIM:614845
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... OMIM:608180
Tibial Hemimelia
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty... ORPHA:93322
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Absent radius, Genu varum, Phocomelia, Coxa valga, Finger syndactyly, Broad thum... ORPHA:3320
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Short humerus, Hip dislocation, Dislocated radial head, Hypoplastic scapulae, Flared metaphysis, ... OMIM:602471
Hereditary Methemoglobinemia
Small for gestational age, Methemoglobinemia ORPHA:621
Neoplasm of the thyroid gland, Neoplasia of the pleura, Neoplasm, Aplastic anemia, Pure red cell ... ORPHA:99867
Al-Gazali-Bakalinova Syndrome
Inguinal hernia, Polydactyly, Flattened epiphysis, Tapered finger, Clinodactyly, Epiphyseal dyspl... OMIM:607131
Silver-Russell Syndrome Due To A Point Mutation
Small for gestational age, Inguinal hernia, Polydactyly, Ectrodactyly, Syndactyly, Attention defi... ORPHA:397590
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Umbilical hernia, Syndactyly, Failure to thrive, Thrombocytopenia, Large for gestational ... OMIM:614520
Laurin-Sandrow Syndrome
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas... ORPHA:2378
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Short humerus, Asymmetric radial dysplasia, Radial club hand, Ectrodactyly, Abnormality of the wr... ORPHA:2878
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... OMIM:151623
Poems Syndrome
Hemangioma, Sclerosis of foot bone, Lymphoproliferative disorder, Sclerosis of hand bone, Metaphy... ORPHA:2905
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bilateral talipes equinovarus, Wrist flexion contracture, Osteop... OMIM:609465
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,... ORPHA:2298
Tempi Syndrome
Increased hematocrit, Polycythemia ORPHA:284227
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof... OMIM:617102
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Lipoma, Cranial hyperostosis, Sandal gap, Nephroblastoma, Splenomegaly OMIM:612918
Morgagni-Stewart-Morel Syndrome
Hyperostosis frontalis interna, Hyperuricemia, Diabetes mellitus, Osteoporosis, Hypercholesterole... ORPHA:77296
Short Rib-Polydactyly Syndrome
Abnormal long bone morphology, Polydactyly, Absent or minimally ossified vertebral bodies, Short ... ORPHA:1505
Bent Bone Dysplasia Syndrome 2
Short 1st metacarpal, Short lower limbs, Arthrogryposis multiplex congenita, Ulnar deviation of t... OMIM:620076
Osteopetrosis, Autosomal Recessive 3
Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Anemia, Osteopetrosis, Cr... OMIM:259730
Aplasia of the ulna, Short humerus, Absent hand, Carpal bone aplasia, Absent radius, Aplasia of m... OMIM:200500
Paget Disease Of Bone 5, Juvenile-Onset
Short humerus, Increased bone mineral density, Hyperuricemia, Lateral femoral bowing, Hydroxyprol... OMIM:239000
Roberts Syndrome
Proximal placement of thumb, Abnormality of the upper limb, Hypoplasia of the radius, Bilateral s... ORPHA:3103
Congenital Disorder Of Glycosylation, Type Iil
Hip dysplasia, Postaxial polydactyly, Enamel hypoplasia, Elevated circulating creatine kinase con... OMIM:614576
Orofaciodigital Syndrome Iv
Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Toe syndactyly, Hamartoma of ... OMIM:258860
Paget Disease Of Bone 3
Patchy osteosclerosis, Osteolysis, Fractures of the long bones, Osteosarcoma OMIM:167250
Nevus Comedonicus Syndrome
Toe syndactyly, Hamartoma, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Camptodactyly of toe, Camptodactyly, Broad femoral metaphyses, Osteochondroma, Arachnodactyly OMIM:610474
Legius Syndrome
Acute monocytic leukemia, Optic nerve glioma, Polydactyly, Lisch nodules, Vestibular schwannoma, ... ORPHA:137605
Hurler Syndrome
Calvarial hyperostosis, Macroglossia, Hepatosplenomegaly, Inguinal hernia, Metaphyseal widening, ... OMIM:607014
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,... OMIM:135750
20P13 Microdeletion Syndrome
Polydactyly, Failure to thrive in infancy, Finger syndactyly, Clinodactyly, Decreased body weight... ORPHA:313781
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Brachydactyly, Obesity, Short long bone, Postaxial polydactyly OMIM:615633
Lead Poisoning
Increased LDL cholesterol concentration, Small for gestational age, Anemia, Attention deficit hyp... ORPHA:330015
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bilateral talipes equinovarus, Hypoplastic scapulae, Short clavicles, Bowed humerus, Congenital d... OMIM:618022
Senior-Loken Syndrome 9
Osteopenia, Hypoplasia of the femoral head, Polydactyly, Obesity OMIM:616629
Limb-Mammary Syndrome
Camptodactyly, Hallux valgus, Syndactyly, Joint contracture of the hand, Split hand, Split foot OMIM:603543
Orofaciodigital Syndrome Type 10
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... ORPHA:2756
Atypical Werner Syndrome
Hip dysplasia, Generalized lipodystrophy, Meningioma, Diabetes mellitus, Fasting hyperinsulinemia... ORPHA:79474
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Umbilical hernia, Persistence of hemoglobin F, Overweight OMIM:619769
Joubert Syndrome 18
Camptodactyly, Postaxial polydactyly, Trident pelvis, Talipes equinovarus, Bowing of the long bones OMIM:614815
Osteogenesis Imperfecta, Type Xvii
Reduced bone mineral density, Hip dislocation, Thin metacarpal cortices, Thin long bone diaphyses... OMIM:616507
Bardet-Biedl Syndrome 6
Diabetes mellitus, Obesity, Syndactyly, Postaxial polydactyly OMIM:605231
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Short tibia, Syndactyly, Abnormality of the hand, Fibular aplasia, Hand oligod... OMIM:246570
Poland Syndrome
Absent hand, Abnormality of the humerus, Diabetes mellitus, Finger symphalangism, Abnormality of ... ORPHA:2911
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive ORPHA:423479
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Proximal placement of thumb, O... ORPHA:435638
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly, Obesity OMIM:245800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly, Ulnar bowing, Hypop... OMIM:617866
Premature Aging Syndrome, Okamoto Type
Diabetes mellitus, Osteoporosis, Neoplasm, Osteosarcoma OMIM:601811
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Postaxial polydactyl... OMIM:613091
Pseudohypoparathyroidism Type 1A
Short metatarsal, Short 5th metacarpal, Brachydactyly, Hyperostosis frontalis interna, Polyphagia... ORPHA:79443
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Single transverse palmar crease, Elevated 8(9)-cholestenol, Congenital hip dislocation, Absent to... OMIM:308050
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Overweight, Hip dysplasia, Single transverse palmar crease ORPHA:457240
Rabson-Mendenhall Syndrome
Macroglossia, Fasting hypoglycemia, Impaired glucose tolerance, Polydactyly, Postprandial hypergl... ORPHA:769
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Macroglossia, Anemia, Abnormal hemoglobin, Brachydactyly, Talipes equinovarus, Flexion contractur... ORPHA:847
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Camptodactyly, Postaxial polydactyly, Ulnar deviation of the hand, Po... OMIM:614175
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Increased bone mineral density, Inguinal hernia, Abnormal metaphysis morphology,... ORPHA:2658
Suleiman-El-Hattab Syndrome
Inguinal hernia, Polydactyly, Failure to thrive, Single transverse palmar crease, Clinodactyly, B... OMIM:618950
Acrodysostosis 1 With Or Without Hormone Resistance
Calvarial hyperostosis, Small for gestational age, Neonatal epiphyseal stippling, Short metatarsa... OMIM:101800
Bardet-Biedl Syndrome 3
Brachydactyly, Obesity, Postaxial polydactyly OMIM:600151
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Camptodactyly, 3-4 finger syndactyly, Absent tibia, Absent toe, Short tibia, Finger... OMIM:612576
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Macroglossia, HbH hemoglobin, Umbilical hernia, Coxa valga, Tapered finger, Radial deviation of f... OMIM:301040
Hand polydactyly, Syndactyly, Short toe, Congenital finger flexion contractures, Brachydactyly OMIM:114150
Omodysplasia 2
Short humerus, Glabellar hemangioma, Dislocated radial head, Broad femoral neck, Limited elbow fl... OMIM:164745
Kyphomelic Dysplasia
Short humerus, Dumbbell-shaped humerus, Flat acetabular roof, Short metacarpal, Ulnar bowing, Sho... OMIM:211350
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small for gestational age, Short tibia, Failure to thrive, Short femur, Hypocalcem... OMIM:607143
Bloom Syndrome
Small for gestational age, Hand polydactyly, Leukemia, Syndactyly, Type II diabetes mellitus, Lym... OMIM:210900
Orofaciodigital Syndrome Vi
Failure to thrive, Postaxial polydactyly, Mesoaxial hand polydactyly, Preaxial foot polydactyly, ... OMIM:277170
Duane-Radial Ray Syndrome
Short humerus, Small thenar eminence, Absent radius, Short thumb, Preaxial polydactyly, Absent th... OMIM:607323
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Camptodactyly of finger, Short thumb, Preaxial polydactyly, Synos... ORPHA:90652
Retinitis Pigmentosa 51
Polydactyly, Obesity OMIM:613464
Oculodentodigital Dysplasia
Hip dislocation, Joint contracture of the 5th finger, Enamel hypoplasia, Vertebral hyperostosis, ... OMIM:164200
Adams-Oliver Syndrome 5
Inguinal hernia, Cavernous hemangioma, Umbilical hernia, Syndactyly, Right ventricular hypertroph... OMIM:616028
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Polydactyly, Postaxial polydactyly, Flat acetabular roof, Bowing ... OMIM:614091
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication OMIM:188740
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Acro-Renal-Ocular Syndrome
Short humerus, Radial club hand, Short thumb, Finger syndactyly, Short distal phalanx of the thum... ORPHA:959
Tolchin-Le Caignec Syndrome
Diastasis recti, Cardiac rhabdomyoma, Umbilical hernia, Attention deficit hyperactivity disorder,... OMIM:618971
Joubert Syndrome 23
Polydactyly OMIM:616490
Khan-Khan-Katsanis Syndrome
Anemia, Postaxial polydactyly, Corneal scarring, Neutropenia, Lymphopenia, Failure to thrive, Dys... OMIM:618460
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Joubert Syndrome 16
Polydactyly OMIM:614465
Atelosteogenesis, Type I
Short finger, Elbow dislocation, Short humerus, Club-shaped proximal femur, Clubbing, Short metat... OMIM:108720
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip dislocation, Short thumb, Shoulder flexion contracture, Bowed humerus, Single transverse palm... OMIM:210710
Joubert Syndrome 27
Polydactyly OMIM:617120
Pseudoaminopterin Syndrome
Patchy reduction of bone mineral density, Clinodactyly of the 5th toe, Inguinal hernia, Short thu... ORPHA:221120
Autosomal Dominant Omodysplasia
Short humerus, Short 1st metacarpal, Short palm, Elbow dislocation ORPHA:93328
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Postaxial polydactyly, Left ventricular hypertrophy, Diabetes mellitu... OMIM:209900
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Limited elbow extension, Inguinal hernia, Capitate-hamate fusion, Short met... OMIM:272460
Alstrom Syndrome
Hyperostosis frontalis interna, Hyperuricemia, Truncal obesity, Abnormality of the hand, Hyperins... OMIM:203800
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Macroglossia, Hepatosplenomegaly, Osteolysis, Bilateral coxa valga, Bilateral t... ORPHA:309282
Pallister-Hall Syndrome
Oligodactyly, Inguinal hernia, Hip dislocation, Mesoaxial polydactyly, Toe syndactyly, Broad thum... ORPHA:672
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Meckel Syndrome, Type 8
Polydactyly, Talipes equinovarus OMIM:613885
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Syndactyly, Failure to thrive, Short long bone, Acet... OMIM:615503
Meckel Syndrome, Type 2
Omphalocele, Postaxial hand polydactyly, Polydactyly, Bowing of the long bones OMIM:603194
Basal Cell Nevus Syndrome 1
Down-sloping shoulders, Palmar pits, Cardiac fibroma, Polydactyly, Odontogenic keratocysts of the... OMIM:109400
Choanal Atresia
Craniosynostosis, Choking episodes, Polydactyly ORPHA:137914
Monosomy 9Q22.3
Palmar pits, Cardiac fibroma, Medulloblastoma, Polydactyly, Hyperactivity, Odontogenic keratocyst... ORPHA:77301
Trichorhinophalangeal Syndrome, Type Ii
2-4 toe syndactyly, Osteoma, Rib exostoses, Inguinal hernia, Avascular necrosis of the capital fe... OMIM:150230
Hyperostosis Cranialis Interna
Calvarial hyperostosis, Facial palsy, Osteosclerosis of the base of the skull, Hyperostosis crani... OMIM:144755
Orofaciodigital Syndrome Type 6
Hand polydactyly, Preaxial polydactyly, Mesoaxial polydactyly, Syndactyly, Finger clinodactyly, F... ORPHA:2754
Cono-Spondylar Dysplasia
Short humerus, Short lower limbs, Failure to thrive, Cone-shaped epiphyses of the phalanges of th... ORPHA:420794
Ulnar-Mammary Syndrome
Inguinal hernia, Short 5th finger, Hypoplasia of the radius, Short 5th toe, Aplasia of the 4th me... OMIM:181450
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Hip dysplasia, Polydactyly ORPHA:531151
Adnp Syndrome
Polyphagia, Inguinal hernia, Polydactyly, Umbilical hernia, Abnormal finger morphology, Abnormal ... ORPHA:404448
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Rhabdomyolysis, Short humerus, Polydactyly, Methylmalonic acidemia, Skeletal muscle atrophy, Fail... ORPHA:17
Degcags Syndrome
Short thumb, Polydactyly, Abnormal spleen morphology, Toe syndactyly, Preaxial hand polydactyly, ... OMIM:619488
Occipital Horn Syndrome
Limited elbow extension, Short humerus, Exostoses, Osteoporosis, Pelvic bone exostoses, Coxa valg... OMIM:304150
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly OMIM:607361
Cranioectodermal Dysplasia 1
Short humerus, Broad distal phalanges of all fingers, Short distal phalanx of finger, Inguinal he... OMIM:218330
Septooptic Dysplasia
Short finger, Polydactyly OMIM:182230
Codas Syndrome
Short humerus, Congenital hip dislocation, Proximal placement of thumb, Delayed ossification of c... OMIM:600373
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Baller-Gerold Syndrome
Bowing of the long bones, Osteosarcoma, Failure to thrive in infancy, Aplasia/Hypoplasia of the t... ORPHA:1225
Melnick-Needles Syndrome
Limited elbow extension, Short distal phalanx of finger, Short humerus, Hip dislocation, Coxa val... OMIM:309350
Acromelic Frontonasal Dysostosis
Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po... OMIM:603671
Atelosteogenesis Type Iii
Club-shaped distal femur, Ulnar deviation of the wrist, Abnormality of the humerus, Hip dislocati... ORPHA:56305
Rubinstein-Taybi Syndrome 1
Hepatic hemangioma, Short thumb, Polydactyly, Truncal obesity, Broad thumb, Flared iliac wing, Si... OMIM:180849
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Short tibia, Unicoronal synost... OMIM:616300
Tarp Syndrome
Hand polydactyly, Extramedullary hematopoiesis, Hypoplasia of proximal radius, Postaxial polydact... ORPHA:2886
Congenital Sialidosis Type 2
Hepatosplenomegaly, Umbilical hernia, Inguinal hernia, Polydactyly ORPHA:93400
Bardet-Biedl Syndrome 20
Postaxial polydactyly, Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly,... OMIM:619471
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Short long bone, Bowed humerus, Flexion contracture, Brachydactyly OMIM:619479
Complete duplication of thumb phalanx, Finger syndactyly, Short phalanx of finger, Polydactyly ORPHA:59315
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Hand polydactyly, Absent radius, Proximal placement of thumb OMIM:314390
Meckel Syndrome 14
Postaxial foot polydactyly, Postaxial polydactyly, Syndactyly, Decreased calvarial ossification, ... OMIM:619879
Miller-Dieker Lissencephaly Syndrome
Camptodactyly, Inguinal hernia, Polydactyly, Deep palmar crease, Omphalocele, Failure to thrive, ... OMIM:247200
Femoral-Facial Syndrome
Short humerus, Short fifth metatarsal, Inguinal hernia, Maternal diabetes, Short fourth metatarsa... OMIM:134780
Catel-Manzke Syndrome
Short humerus, Camptodactyly, Inguinal hernia, Umbilical hernia, Short metacarpal, Short femur, H... OMIM:616145
Rothmund-Thomson Syndrome, Type 2
Small for gestational age, Congenital hip dislocation, Short thumb, Osteosarcoma, Osteoporosis, F... OMIM:268400
Duodenal Neuroendocrine Tumor
Insulinoma, Paraganglioma, Increased hematocrit, Iron deficiency anemia, Intestinal carcinoid, Zo... ORPHA:100076
Helsmoortel-Van Der Aa Syndrome
Polyphagia, Short lower limbs, Hyperactivity, Polydactyly, Obesity, Truncal obesity, Attention de... OMIM:615873
Wiedemann-Rautenstrauch Syndrome
Hypoplasia of the thymus, Short humerus, Flexion contracture, Hypoplastic ilia, Small for gestati... OMIM:264090
Cranioectodermal Dysplasia 2
Craniosynostosis, Inguinal hernia, Polydactyly, Left ventricular hypertrophy, Syndactyly, Polyspl... OMIM:613610
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly, Obesity OMIM:615989
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Camptodactyly of finger, Asplenia, Postaxial polydactyly, Accessory s... OMIM:249000
Faciocardiomelic Syndrome
Polydactyly, Slender long bone, Osteopenia, Hypoplastic pelvis, Thin bony cortex, Large for gesta... OMIM:612731
Dyrk1A-Related Intellectual Disability Syndrome
Small for gestational age, Hallux valgus, Hyperactivity, Polydactyly, Failure to thrive, Toe synd... ORPHA:464306
Carpenter Syndrome 2
Craniosynostosis, Camptodactyly, Hitchhiker thumb, Preaxial polydactyly, Postaxial polydactyly, D... OMIM:614976
Kinsship Syndrome
Hip dislocation, Polydactyly, Dislocated radial head, Coxa valga, Osteopenia, Failure to thrive, ... OMIM:619297
Mend Syndrome
Hyperactivity, Polydactyly, Overlapping toe, Failure to thrive, Long fingers, 2-3 toe syndactyly,... OMIM:300960
Roberts-Sc Phocomelia Syndrome
Brachydactyly, Knee flexion contracture, Midface capillary hemangioma, Accessory spleen, Aplasia ... OMIM:268300
Baller-Gerold Syndrome
Oligodactyly, Bicoronal synostosis, Aplasia of metacarpal bones, Aphalangy of the hands, Carpal s... OMIM:218600
Orofaciodigital Syndrome I
Polydactyly, Syndactyly, Enamel hypoplasia, Short 2nd toe, Hamartoma of tongue, Hypothalamic hama... OMIM:311200
Lymphoma, Melanoma, Ewing sarcoma, Glioma, Leukemia, Pineoblastoma, Leiomyosarcoma, Cellulitis, O... ORPHA:790
Wiedemann-Rautenstrauch Syndrome
Camptodactyly of finger, Slender build, Hip dysplasia, Thin long bone diaphyses, Long fingers, Li... ORPHA:3455
Joubert Syndrome 39
Joint contracture of the 5th finger, Overweight, Postaxial polydactyly OMIM:619562
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Inguinal hernia, Short greater sciatic notch, Polysplenia, Broad ... OMIM:312870
Omodysplasia 1
Hemangioma, Limited elbow extension, Anterolateral radial head dislocation, Short humerus, Umbili... OMIM:258315
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Mullegama-Klein-Martinez Syndrome
Polydactyly, Attention deficit hyperactivity disorder, Failure to thrive, Facial palsy, Congenita... OMIM:301022
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis OMIM:601345
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Postaxial polydactyly, Short clavicles, Splenomegaly, Short long bone, Postaxial hand polydactyly... OMIM:617088
Retinitis Pigmentosa 74
Polydactyly, Obesity OMIM:616562
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Small for gestational age, Inguinal hernia, Hallux valgus, Polydactyly, Failure to thrive in infa... ORPHA:268261
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hip dysplasia, Polydactyly, Widened distal phalanges, Avascular necrosis of the capital femoral e... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hip dysplasia, Polydactyly, Widened distal phalanges, Avascular necrosis of the capital femoral e... ORPHA:353277
Loeys-Dietz Syndrome 2
Craniosynostosis, Camptodactyly, Inguinal hernia, Postaxial polydactyly, Umbilical hernia, Osteop... OMIM:610168
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short femur, Short humerus, Dysphagia, Tapered finger OMIM:618367
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inguinal hernia, Polydactyly, Postaxial polydactyly, Syndactyly, Conjugated hyperbilirubinemia, O... OMIM:619534
Cerebrocostomandibular Syndrome
Short humerus, Congenital hip dislocation, Elbow flexion contracture, Calcaneal epiphyseal stippl... OMIM:117650
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma OMIM:180200
Ulbright-Hodes Syndrome
Short humerus, Maternal diabetes, Abnormal forearm bone morphology, Phocomelia, Hypoplasia of the... ORPHA:3404
Microphthalmia, Syndromic 6
Polydactyly, Finger syndactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Short mi... OMIM:607932
Lacrimoauriculodentodigital Syndrome 1
2-3 finger syndactyly, Small thenar eminence, Absent radius, Short thumb, Preaxial polydactyly, R... OMIM:149730
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Osteopenia, Abnormal digit morphology, Osteoporosis of vertebrae, Hypoglycemia ORPHA:95494
Neurocardiofaciodigital Syndrome
Small for gestational age, Syndactyly, Polydactyly, Failure to thrive OMIM:619869
Okamoto Syndrome
Omphalocele, Hip dysplasia, Polydactyly, Splenomegaly ORPHA:2729
Alström Syndrome
Short finger, Hyperostosis frontalis interna, Hepatosplenomegaly, Dorsocervical fat pad, Polyphag... ORPHA:64


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.

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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

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