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
increased circulating amylase level Cibar1tm1b(KOMP)Wtsi HOM   Early adult 5.67×10-05
improved glucose tolerance Cibar1tm1b(KOMP)Wtsi HOM Early adult 2.54×10-06
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
increased circulating alkaline phosphatase level Cibar1tm1b(KOMP)Wtsi HOM   Early adult 8.38×10-06
decreased hematocrit Cibar1tm1b(KOMP)Wtsi HOM Early adult 6.91×10-05
decreased leukocyte cell number Cibar1tm1b(KOMP)Wtsi HOM Early adult 8.63×10-09
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
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

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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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
blood vessel 0.0%
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyer's patch 0.58% (1 of 171)
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle tissue 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
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 Ophthalmoscopy

1 Images

Eye Morphology

Images Slit Lamp

6 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, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Isolated Osteopoikilosis
Keloids, Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of foot bo... ORPHA:166119
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Craniodiaphyseal Dysplasia
Facial hyperostosis, Cranial hyperostosis, Diaphyseal sclerosis, Diaphyseal dysplasia OMIM:218300
Buschke-Ollendorff Syndrome
Cutaneous finger syndactyly, Generalized limb muscle atrophy, Abnormality of epiphysis morphology... ORPHA:1306
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Melorheostosis
Skeletal muscle atrophy, Ectopic ossification in muscle tissue, Failure to thrive, Hyperostosis, ... ORPHA:2485
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormality of epiphysis morphology, Abnormal sacroiliac joint morphology, Hyperostosis, Weight l... ORPHA:324964
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Anemia, Abnorma... ORPHA:1802
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... ORPHA:71289
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Dysphagia, Decreas... ORPHA:73230
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Hyperostosis, Epiphyseal streaking, Clinodactyly of the 4th toe, Clinodactyly of the 3rd toe, Den... OMIM:604922
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Hip contracture, Hyperostosis, Knee flexion contracture, Osteopenia OMIM:606631
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Clubbing, Hypoalbuminemia OMIM:614441
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly OMIM:186100
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Small for gestational age, Atypical scarring of skin, Syndactyly, Upper limb phocome... ORPHA:294975
Camurati-Engelmann Disease
Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, Slender build, ... ORPHA:1328
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ankylosing Vertebral Hyperostosis With Tylosis
Vertebral hyperostosis, Punctate palmar hyperkeratosis OMIM:106400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Bardet-Biedl Syndrome 6
Obesity, Syndactyly, Polydactyly, Diabetes mellitus OMIM:605231
Wahab Syndrome
Adducted thumb, Short foot, Syndactyly, Short thumb, Short metacarpal, Short palm, Camptodactyly,... OMIM:615170
Oculodentodigital Dysplasia
Short hallux, Toe syndactyly, Madelung deformity, Cranial hyperostosis, Hypoglycemia, Hyperostosi... ORPHA:2710
Diabetes Mellitus, Permanent Neonatal, 4
Small for gestational age, Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I ... OMIM:618858
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis OMIM:263450
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Glucose intolerance, Impaired glucose tolerance, Hypercholesterolemia, Diabetes m... OMIM:610947
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Abnormal bon... OMIM:300244
Sclerosteosis
Diaphyseal thickening, Facial palsy, Abnormal cortical bone morphology, Finger syndactyly, Curved... ORPHA:3152
Hyperostosis Corticalis Generalisata
Diaphyseal thickening, Generalized osteosclerosis, Facial palsy, Abnormal cortical bone morpholog... ORPHA:3416
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary hematopoiesis, T... OMIM:615285
Bardet-Biedl Syndrome 5
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Diabetes Mellitus, Permanent Neonatal, 1
Small for gestational age, Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diab... OMIM:606176
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Obesity, Craniosynostosis, Finger syndactyly, G... ORPHA:65759
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Bardet-Biedl Syndrome 11
Obesity, Polydactyly OMIM:615988
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Shwachman-Diamond Syndrome 1
Proximal femoral metaphyseal irregularity, Irregular ossification at anterior rib ends, Neutropen... OMIM:260400
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, 3-4 finger syndactyly, Sagittal craniosynostosis, Distal symphalangism of han... OMIM:185900
Oslam Syndrome
Anemia, Neoplasm, Radial deviation of finger, Osteosarcoma, Clinodactyly, Radioulnar synostosis OMIM:165660
Boomerang Dysplasia
Poorly ossified vertebrae, Omphalocele, Abnormality of the ulna, Aplasia/Hypoplasia of the abdomi... ORPHA:1263
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,... OMIM:200700
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Omphalocele, Abnormality of femur morphology, Abnormality of t... ORPHA:2141
Bardet-Biedl Syndrome 12
Obesity, Polydactyly OMIM:615989
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Diaphyseal dysplasi... OMIM:231095
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Bardet-Biedl Syndrome 13
Obesity, Polydactyly OMIM:615990
Lipodystrophy, Familial Partial, Type 7
Decreased adipose tissue around neck, Lack of facial subcutaneous fat, Loss of subcutaneous adipo... OMIM:606721
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Hemochromatosis, Type 4
Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin saturation, Increas... OMIM:606069
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Toe syndactyly, Broad thumb, Congenital diaphragmatic hernia, Craniosynosto... ORPHA:380
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Neutropenia, Short 5th metacarpal, Polydactyly, Fai... OMIM:169400
Proteus Syndrome
Hallux valgus, Ovarian neoplasm, Thymus hyperplasia, Sirenomelia, Meningioma, Neoplasm of the thy... ORPHA:744
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Hemangioma, Lymphangioma, Splenomegaly, Lipoma, Calvar... OMIM:176920
X-Linked Sideroblastic Anemia
Glucose intolerance, Anemia, Abnormality of iron homeostasis, Splenomegaly ORPHA:75563
Bardet-Biedl Syndrome 9
Polydactyly, Polydipsia, Polyphagia, Hyperglycemia, Postaxial polydactyly, Truncal obesity, Synda... OMIM:615986
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocy... OMIM:615631
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Proteus-Like Syndrome
Shagreen patch, Thymus hyperplasia, Hemangioma, Hyperostosis, Splenomegaly, Exostoses, Subcutaneo... ORPHA:2969
Hypophosphatemic Rickets
Hypercalcemia, Abnormal lower limb bone morphology, Fibrous dysplasia of the bones, Rickets, Fail... ORPHA:437
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... OMIM:601560
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hyperostosis, Enamel hypoplasia, Subperiosteal bone formation, Hyperphosphatemia OMIM:211900
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Syndactyly, Poikilocytosis, Reticulocytosis, M... OMIM:224120
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... OMIM:605289
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral ... ORPHA:848
Summitt Syndrome
Obesity, Craniosynostosis, Syndactyly OMIM:272350
Bardet-Biedl Syndrome 10
Obesity, Polydactyly OMIM:615987
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Obesity, Clinodactyly OMIM:615984
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur OMIM:600121
Wiskott-Aldrich Syndrome
Neutropenia, Acute leukemia, Hypoplasia of the thymus, Chronic leukemia, Abnormal platelet morpho... ORPHA:906
Acute Erythroid Leukemia
Pancytopenia, Anemia, Leukopenia, Erythroid hypoplasia ORPHA:318
Heart-Hand Syndrome, Slovenian Type
Myopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brachydactyly OMIM:610140
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Split-Hand/Foot Malformation 1
Hand oligodactyly, Triphalangeal thumb, Clinodactyly, Split hand, Syndactyly, Broad hallux, Foot ... OMIM:183600
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Metacarpal synostosis, Symp... ORPHA:157801
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Genu valgum, Hepatosplenomegal... OMIM:259710
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... OMIM:250215
Bardet-Biedl Syndrome 22
Polydactyly, Polyphagia, Large for gestational age, Postaxial foot polydactyly, Obesity OMIM:617119
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Failure to thrive in infancy, Hypochromic microcytic anemia, Hep... ORPHA:231226
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c OMIM:610582
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Polydactyly, Small for gestational age, Upper limb asymmetry, Neonatal hypoglycemia... ORPHA:231140
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... ORPHA:75508
Beta-Thalassemia Major
Abnormality of iron homeostasis, Anisopoikilocytosis, Failure to thrive in infancy, Hypochromic m... ORPHA:231214
Familial Tumoral Calcinosis
Neoplasm of the skin, Hyperostosis, Calcification of muscles, Splenomegaly ORPHA:53715
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Short clavicles, Loss of subcutaneous adipose tissue in lim... OMIM:608612
Overlap Myositis
Dysphagia, Perifascicular muscle fiber atrophy, Leukopenia, Elevated circulating creatine kinase ... ORPHA:206572
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphys... OMIM:616716
X-Linked Hypophosphatemia
Genu varum, Rickets, Hypophosphatemia, Reduced bone mineral density, Odontodysplasia, Bowing of t... ORPHA:89936
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Femoroacetabular impingement, Chondrosarc... ORPHA:321
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... OMIM:618849
Ivic Syndrome
Upper limb undergrowth, Triphalangeal thumb, Hypoplasia of the radius, Short 1st metacarpal, Shor... OMIM:147750
Sapho Syndrome
Abnormal sacroiliac joint morphology, Hyperostosis, Steatorrhea, Enthesitis, Craniofacial osteosc... ORPHA:793
Mandibuloacral Dysplasia
Short clavicles, Loss of subcutaneous adipose tissue in limbs, Insulin resistance, Insulin-resist... ORPHA:2457
Beta-Thalassemia Intermedia
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... ORPHA:231222
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Radial bowing, Ulnar bowing, Amegakaryocytic thrombocyto... OMIM:605432
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Meningioma, Polydactyly, Leukemia, Hernia, Syndactyly, Nephroblastoma OMIM:602501
Oslam Syndrome
Increased mean corpuscular volume, Osteosarcoma, Clinodactyly of the 5th finger, Abnormality of n... ORPHA:2760
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Thyroid carcinoma, Astrocytoma, Choriocarcinoma, ... ORPHA:524
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Split-Hand/Foot Malformation 6
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot OMIM:225300
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Rhizomelic Chondrodysplasia Punctata, Type 2
Failure to thrive, Rhizomelia, Osteopenia, Stippled calcification proximal humeral epiphyses, Fle... OMIM:222765
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Myopathy, Skeletal muscle atrophy, Diaphyseal cortical sclerosis, Bowing of the legs, Patchy oste... OMIM:112250
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Omphalocele, Congenital diaphragmatic hernia, Decreased skull ossification, Synda... OMIM:601163
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Mody
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperglycemia, Glucose intole... ORPHA:552
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Talipes equinovarus, Failure to thrive, Microcytic anemia, Flexion contracture, Short toe, HbH he... ORPHA:98791
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Bardet-Biedl Syndrome 4
Obesity, Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Orofaciodigital Syndrome Vi
Toe syndactyly, Postaxial polydactyly, Failure to thrive, Hypothalamic hamartoma, Radial deviatio... OMIM:277170
Hyperostosis Frontalis Interna
Hyperostosis frontalis interna, Diabetes mellitus, Obesity OMIM:144800
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL cholesterol con... OMIM:618620
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Gaisböck Syndrome
Hyperproteinemia, Obesity, Increased red blood cell count, Increased circulating renin level, Hyp... ORPHA:90041
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... ORPHA:2169
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Genu varum, Neutropenia, Leukemia, Basal cell carcinoma, Abnormal dental en... ORPHA:221008
Rothmund-Thomson Syndrome Type 2
Neoplasm of the skin, Genu varum, Neutropenia, Leukemia, Basal cell carcinoma, Abnormal dental en... ORPHA:221016
Czech Dysplasia
Osteochondroma, Flat capital femoral epiphysis, Short metatarsal, Narrow iliac wing, Coxa vara, S... OMIM:609162
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Thyroid carcinoma, Rickets, Fibrous dysplasia of the bones, Increased ci... ORPHA:249
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Joint contracture of the hand, Aplas... OMIM:113000
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Moebius Syndrome
Dysphagia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Facial diplegia, Congenit... OMIM:157900
Sturge-Weber Syndrome
Visceral angiomatosis, Dysphagia, Capillary hemangioma, Hyperostosis ORPHA:3205
Caffey Disease
Cortical thickening of long bone diaphyses, Periosteal thickening of long tubular bones, Cortical... ORPHA:1310
Poland Syndrome
Unilateral hypoplasia of pectoralis major muscle, Unilateral absence of pectoralis major muscle, ... OMIM:173800
Juvenile Paget Disease
Bowing of the long bones, Osteoporosis, Hyperuricemia, Coarse metaphyseal trabecularization, Cran... ORPHA:2801
Holt-Oram Syndrome
Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasia of the ulna, Hyp... OMIM:142900
Short Stature With Microcephaly And Distinctive Facies
Anisopoikilocytosis, Talipes equinovarus, Small for gestational age, Anemia, Proximal placement o... OMIM:615789
Diamond-Blackfan Anemia 6
Macrocytic anemia, Triphalangeal thumb, Increased mean corpuscular volume, Failure to thrive, Per... OMIM:612561
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Tibial bowing, Abnormality of femur morphology, Fibrous dysplasi... ORPHA:352540
Blackfan-Diamond Anemia
Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Osteosarcoma, Reticu... ORPHA:124
Hamamy Syndrome
Dysphagia, Tapered finger, Long fingers, Craniosynostosis, Hypochromic anemia, Osteopenia, Down-s... OMIM:611174
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Anemia, Splenomegaly, Osteopenia, Steatorrhea, Calvarial hyperostosis, Anemia ... OMIM:612714
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor... OMIM:171480
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Genu valgum, Deviation of finger, Coxa vara, Short metacarpal, Short humerus, Deforme... ORPHA:2831
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Short humerus, Split hand, Abnormality of the wrist, Postaxial hand pol... ORPHA:2491
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Elevated hemoglobin A1c, Diabetes mellitus, Small for gestational age OMIM:619278
Orofaciodigital Syndrome Viii
Hamartoma, Syndactyly, Polydactyly, Short tibia OMIM:300484
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Myelodysplasia, Leukopenia, Panniculitis, Anemia, Rhizomelic arm ... ORPHA:508542
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Generalized amyotrophy, Abnormality of long b... ORPHA:52430
Bardet-Biedl Syndrome 19
Obesity, Polydactyly OMIM:615996
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele, Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndac... ORPHA:3329
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Shwachman-Diamond Syndrome
Neutropenia, Leukemia, Metaphyseal irregularity, Steatorrhea, Diabetes mellitus, Pancytopenia, My... ORPHA:811
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Anterior tibial bowing, Calvarial hyperostosis, Squared i... OMIM:112350
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Macrodactyly, Sandal gap, Splenomegaly, Lipoma, Cranial hyperostosis OMIM:612918
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Thymoma
Prostate neoplasm, Imbalanced hemoglobin synthesis, Neoplasm of the lung, Neoplasia of the pleura... ORPHA:99867
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Bardet-Biedl Syndrome 17
Polydactyly, Polydipsia, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615994
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral synostosis, Dislocated radi... OMIM:602471
Omodysplasia 2
Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni... OMIM:164745
Orofaciodigital Syndrome Xvii
Polydactyly, Partial duplication of thumb phalanx, Central Y-shaped metacarpal, Clubbing of finge... OMIM:617926
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Hypoplasia of prox... OMIM:184253
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Insulin-Resistance Syndrome Type B
Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Hypotriglyce... ORPHA:2298
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Reduced bone mineral density, Syndactyly, Abnormal pelvis bone morphol... ORPHA:1505
Poems Syndrome
Thrombocytosis, Sclerosis of foot bone, Lymphoproliferative disorder, Polycythemia, Hemangioma, W... ORPHA:2905
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Large for gestational age, Syndactyly, Thrombocytopenia, ... OMIM:614520
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Seckel Syndrome 10
Cone-shaped epiphysis, Insulin resistance, Metaphyseal widening, Glucose intolerance, Impaired gl... OMIM:617253
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Craniosynostosis, Syndactyly, Coronal craniosynostosis, Sagitt... OMIM:614188
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Mesomelic... ORPHA:2756
Joubert Syndrome 18
Polydactyly, Camptodactyly OMIM:614815
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Talipes equinovarus, Macroglos... OMIM:141750
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Nephronophthisis 15
Obesity, Polydactyly OMIM:614845
Roberts Syndrome
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... ORPHA:3103
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma, Joint contracture of the hand, Arachnodactyly, Broad femoral metaphyses, Camptoda... OMIM:610474
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Hyperuricemia, Hypercholesterolemia, Hyperostosis frontalis interna, Diabetes melli... ORPHA:77296
Al-Gazali Syndrome
Failure to thrive, Broad distal phalanx of finger, Osteopenia, Wrist flexion contracture, Proxima... OMIM:609465
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Overlapping toe OMIM:300960
Silver-Russell Syndrome Due To A Point Mutation
Hypoglycemia, Polydactyly, Small for gestational age, Short 5th finger, Syndactyly, Clinodactyly ... ORPHA:397590
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly, Lipoma OMIM:603671
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Elevated circulating creatine kinase concentration, Failure to thrive, Spl... OMIM:614576
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Hamartoma, Finger syndactyly ORPHA:64754
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:222800
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteosarcoma, Osteolysis OMIM:167250
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extramedullary hematopoiesis, Cr... OMIM:259730
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Enamel hypoplasia, Pr... OMIM:129540
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Talipes equinovarus, Tapered f... OMIM:301040
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Limb-Mammary Syndrome
Hallux valgus, Joint contracture of the hand, Split hand, Syndactyly, Camptodactyly, Split foot OMIM:603543
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomelia, Hypoplasia of the ... OMIM:607143
Orofaciodigital Syndrome Iv
Toe syndactyly, Hamartoma of tongue, Postaxial polydactyly, Short finger, Foot polydactyly, Brach... OMIM:258860
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... OMIM:617866
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Hepatos... OMIM:274000
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Carpal synostosis, Syndactyly, Short metac... OMIM:605282
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Obesity, Short long bone, Brachydactyly, Postaxial polydactyly OMIM:615633
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Polydactyly, Talipes equinovarus OMIM:613885
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Biemond Syndrome Type 2
Obesity, Preaxial polydactyly ORPHA:141333
20P13 Microdeletion Syndrome
Failure to thrive in infancy, Polydactyly, Finger syndactyly, Decreased body weight, Clinodactyly... ORPHA:313781
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Talipes equinovarus, Macroglossia, Anemia, Abnormal hemoglobin, Flexion contracture, Clinodactyly... ORPHA:847
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Type II diabetes mellitus, Polyphagia, Narro... OMIM:176270
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Hypoplastic ischia OMIM:616910
Bardet-Biedl Syndrome 8
Obesity, Polydactyly OMIM:615985
Orofaciodigital Syndrome Xv
Broad hallux, Postaxial polydactyly OMIM:617127
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the radius, Finge... ORPHA:2911
Chondrodysplasia Punctata 2, X-Linked Dominant
Tarsal stippling, Elevated 8(9)-cholestenol, Polydactyly, Postaxial polydactyly, Epiphyseal stipp... OMIM:302960
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Flared metaphysis... OMIM:211350
Mullegama-Klein-Martinez Syndrome
Failure to thrive, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Osteoporosis, Diabetes mellitus, Neoplasm OMIM:601811
Atypical Werner Syndrome
Ovarian neoplasm, Neoplasm of the skin, Meningioma, Insulin-resistant diabetes mellitus, Neoplasm... ORPHA:79474
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Curry-Jones Syndrome
Cutaneous finger syndactyly, Broad thumb, Craniosynostosis, Syndactyly, Duplication of thumb phal... OMIM:601707
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Leukemia, Glucose intolerance, Impaired glucose tolerance, Joint contracture of the hand, Elevate... OMIM:208910
Rabson-Mendenhall Syndrome
Fasting hypoglycemia, Polydactyly, Polydipsia, Insulin resistance, Insulin-resistant diabetes mel... ORPHA:769
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of the long bones, Syndactyly, M... OMIM:614091
Pseudohypoparathyroidism Type 1A
Short 5th metacarpal, Hypocalcemic seizures, Short metatarsal, Reduced bone mineral density, Incr... ORPHA:79443
Bloom Syndrome
Type II diabetes mellitus, Small for gestational age, Leukemia, Lymphoma, Syndactyly, Squamous ce... OMIM:210900
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Micromelia, Brachydacty... OMIM:617895
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Postaxial polydactyly, Tapered finger, Congenital pseudoarthrosis of the... ORPHA:435638
Hurler Syndrome
Short clavicles, Diaphyseal thickening, Hypoplasia of the femoral head, Hernia, Inguinal hernia, ... OMIM:607014
Retinitis Pigmentosa 89
Hepatosplenomegaly, Postaxial polydactyly OMIM:618955
Camptobrachydactyly
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Cranial hyperostosis, Overweight, Hip dysplasia, Single transverse palmar crease ORPHA:457240
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age ORPHA:621
Oculodentodigital Dysplasia
Vertebral hyperostosis, Cubitus valgus, Short middle phalanx of the 5th finger, 3-4 toe syndactyl... OMIM:164200
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Triphalangeal thumb, My... OMIM:105650
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Aplasi... ORPHA:959
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Omphalocele, Failure to thrive, Bowing of the long bones, Syn... ORPHA:90652
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Small for gestational age, Epiphyseal stippling, Short metatarsal, Dislocated radial ... OMIM:101800
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Symphalangism affecting the phalanges of the hand, Aplastic clavi... ORPHA:2658
Atelosteogenesis, Type I
Fibular aplasia, Tibial bowing, Radial bowing, Distal tapering femur, Talipes equinovarus, Club-s... OMIM:108720
Adams-Oliver Syndrome 5
Cavernous hemangioma, Right ventricular hypertrophy, Inguinal hernia, Splenomegaly, Hypersplenism... OMIM:616028
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Absent knee epiphyses, Short humerus, Femoral bowing, Short femur, Elbow flexion... OMIM:210710
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Decreased HDL cholesterol concentrat... ORPHA:330015
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Bowed humer... OMIM:618022
Mohr Syndrome
Bilateral postaxial polydactyly, Metaphyseal irregularity, Partial duplication of the phalanges o... OMIM:252100
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Legius Syndrome
Non-small cell lung carcinoma, Ovarian neoplasm, Polydactyly, Vestibular Schwannoma, Desmoid tumo... ORPHA:137605
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Short palm, Short humerus, Elbow dislocation ORPHA:93328
Bardet-Biedl Syndrome 3
Obesity, Brachydactyly, Postaxial polydactyly OMIM:600151
Joubert Syndrome 23
Polydactyly OMIM:616490
Suleiman-El-Hattab Syndrome
Polydactyly, Failure to thrive, Clinodactyly, Inguinal hernia, Brachydactyly, Single transverse p... OMIM:618950
Bardet-Biedl Syndrome 1
Postaxial polydactyly, Insulin resistance, Truncal obesity, Foot polydactyly, Radial deviation of... OMIM:209900
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Facial palsy, Pectoralis hypoplasia, Hypoplasia... OMIM:607323
Joubert Syndrome 15
Polydactyly OMIM:614464
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Werner Syndrome
Osteosarcoma, Osteoporosis, Meningioma, Diabetes mellitus OMIM:277700
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Joubert Syndrome 16
Polydactyly OMIM:614465
Pseudoaminopterin Syndrome
Asplenia, Postaxial polydactyly, Limited elbow movement, Clinodactyly of the 5th toe, Synostosis ... ORPHA:221120
Pallister-Hall Syndrome
Distal arthrogryposis, Polydactyly affecting the 4th finger, Broad toe, Mesoaxial polydactyly, Sh... ORPHA:672
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Rhabdomyoma, Odontogenic keratocysts of the jaw, Irregular ossification of h... OMIM:109400
Senior-Loken Syndrome 9
Obesity, Polydactyly, Hypoplasia of the femoral head OMIM:616629
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Osteoporosis, Clinodactyly, Hypo... OMIM:218330
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Postaxial polydactyly, Failure to thrive, Preaxial polydactyly, Brachydactyly, Syndactyly, Femora... OMIM:615503
Tarp Syndrome
Talipes equinovarus, Postaxial polydactyly, Failure to thrive, Hypoplasia of the radius, Short st... OMIM:311900
Hyperostosis Cranialis Interna
Calvarial hyperostosis, Hyperostosis cranialis interna, Osteosclerosis of the base of the skull, ... OMIM:144755
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius OMIM:314390
Spondylocarpotarsal Synostosis Syndrome
Tarsal synostosis, Talipes equinovarus, Capitate-hamate fusion, Epiphyseal dysplasia, Coxa vara, ... OMIM:272460
Cono-Spondylar Dysplasia
Short lower limbs, Failure to thrive, Short 4th toe, Epiphyseal dysplasia, Short humerus, Brachyd... ORPHA:420794
Endocrine-Cerebroosteodysplasia
Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polydactyly, Ulnar ... OMIM:612651
Alstrom Syndrome
Decreased HDL cholesterol concentration, Insulin-resistant diabetes mellitus, Truncal obesity, Hy... OMIM:203800
Alpha-Mannosidosis, Infantile Form
Cortical thickening of long bone diaphyses, Myopathy, Bilateral coxa valga, Macroglossia, Hypopla... ORPHA:309282
Tolchin-Le Caignec Syndrome
Osteochondroma, Cardiac rhabdomyoma, Arachnodactyly, Diastasis recti, Clinodactyly of the 5th fin... OMIM:618971
Degcags Syndrome
Talipes equinovarus, Choking episodes, Hepatosplenomegaly, Syndactyly, Pancytopenia, Oral-pharyng... OMIM:619488
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Brachydactyly OMIM:613819
Klippel-Trenaunay-Weber Syndrome
Hand oligodactyly, Hemangioma, Lymphangioma, Macrodactyly, Syndactyly, Hand polydactyly OMIM:149000
Codas Syndrome
Omphalocele, Metaphyseal dysplasia, Proximal placement of thumb, Congenital hip dislocation, Genu... OMIM:600373
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Choanal Atresia
Choking episodes, Craniosynostosis, Polydactyly ORPHA:137914
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Hip dysplasia, Polydactyly ORPHA:531151
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Prominent deltoid tuberosities, Short clavicles, Rhizomelia, Amelogenesis imperfecta, Short humer... OMIM:610319
Melnick-Needles Syndrome
Omphalocele, Tibial bowing, Short clavicles, Hypoplastic scapulae, Talipes equinovarus, Failure t... OMIM:309350
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the patella, Failure to thrive in infancy, Hand oligodactyly, Aplasia/Hypop... ORPHA:1225
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Ragged-red muscle fibers, Methylmalonic acidemia, Hypoglycemia, Polydactyly, Skeletal muscle atro... ORPHA:17
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Orofaciodigital Syndrome Type 6
Hamartoma of tongue, Failure to thrive, Hypothalamic hamartoma, Mesoaxial polydactyly, Foot polyd... ORPHA:2754
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly OMIM:607361
Atelosteogenesis Type Iii
Fibular aplasia, Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Absent hum... ORPHA:56305
Adnp Syndrome
2-3 toe syndactyly, Polydactyly, Polyphagia, Abnormality of toe, Inguinal hernia, Abnormality of ... ORPHA:404448
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Rocker bottom foot, Postaxial polydactyly, Failure to thrive, Long fingers, Hypomimic ... OMIM:617527
Tarp Syndrome
Rocker bottom foot, Talipes equinovarus, Postaxial polydactyly, Failure to thrive, Finger syndact... ORPHA:2886
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Meier-Gorlin Syndrome 7
2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowing of the legs, Craniosynostosis, Club... OMIM:617063
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Polydactyly, Rhabdomyosarcoma, Palmar pits, Basal cell carcin... ORPHA:77301
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial polydactyly, Hypercholesterolemia, Postaxial hand polydactyly, Obes... OMIM:619471
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Craniosynostosis, Hyperbilirubinemia, Clinodactyly, Splenomegaly, Left v... OMIM:613610
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
Wiedemann-Rautenstrauch Syndrome
Dysphagia, Failure to thrive, Large hands, Long fingers, Absence of subcutaneous fat, Reduced sub... OMIM:264090
Congenital Sialidosis Type 2
Hepatosplenomegaly, Polydactyly, Umbilical hernia, Inguinal hernia ORPHA:93400
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly OMIM:619479
Miller-Dieker Lissencephaly Syndrome
Omphalocele, Polydactyly, Failure to thrive, Joint contracture of the hand, Camptodactyly, Clinod... OMIM:247200
Rhombencephalosynapsis
Complete duplication of thumb phalanx, Short phalanx of finger, Polydactyly, Finger syndactyly ORPHA:59315
Baller-Gerold Syndrome
Aplasia of metacarpal bones, Lambdoidal craniosynostosis, Carpal bone aplasia, Aplasia/Hypoplasia... OMIM:218600
Femoral-Facial Syndrome
Toe syndactyly, Maternal diabetes, Talipes equinovarus, Hypoplastic acetabulae, Short fifth metat... OMIM:134780
Tukel Syndrome
Carpal bone aplasia, Carpal synostosis, Syndactyly, Postaxial oligodactyly, Congenital fibrosis o... OMIM:609428
Khan-Khan-Katsanis Syndrome
Dysphagia, Postaxial polydactyly, Corneal scarring, Failure to thrive, Flexion contracture, Clino... OMIM:618460
Rothmund-Thomson Syndrome, Type 2
Talipes equinovarus, Small for gestational age, Osteoporosis, Small hand, Congenital hip dislocat... OMIM:268400
Ulnar-Mammary Syndrome
Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Obesity... OMIM:181450
Duodenal Neuroendocrine Tumor
Iron deficiency anemia, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagonoma, Increased h... ORPHA:100076
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Occipital Horn Syndrome
Bladder carcinoma, Short clavicles, Capitate-hamate fusion, Osteoporosis, Genu valgum, Pelvic bon... OMIM:304150
Faciocardiomelic Syndrome
Thin bony cortex, Polydactyly, Large for gestational age, Osteopenia, Slender long bone, Hypoplas... OMIM:612731
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Omphalocele, Postaxial polydactyly, Rhizomelia, Preaxial polydactyly, Unicoronal synostosis, Flat... OMIM:616300
Orofaciodigital Syndrome I
Polydactyly, Hypothalamic hamartoma, Abnormality of toe, Radial deviation of finger, Enamel hypop... OMIM:311200
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Hamartoma of tongue, Postaxial polydactyly, Fibular hypoplasia,... OMIM:617925
Cranioectodermal Dysplasia 3
Postaxial polydactyly, Sandal gap, Syndactyly, Sagittal craniosynostosis, Brachydactyly OMIM:614099
Omodysplasia 1
Limited elbow flexion, Hemangioma, Rhizomelia, Fibular hypoplasia, Increased fibular diameter, Hy... OMIM:258315
Kinsship Syndrome
Polydactyly, Failure to thrive, Fibular hypoplasia, Dislocated radial head, Osteopenia, Hip dislo... OMIM:619297
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Polydactyly, Small for gestational age, Failure to thrive, Arachno... ORPHA:464306
Nephronophthisis 13
Polydactyly OMIM:614377
Rubinstein-Taybi Syndrome 1
Keloids, Radial deviation of thumb terminal phalanx, Leukemia, Capillary hemangioma, Syndactyly, ... OMIM:180849
Retinoblastoma
Rhabdomyosarcoma, Leukemia, Leiomyosarcoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Retinoblastoma... ORPHA:790
Wiedemann-Rautenstrauch Syndrome
2-3 toe syndactyly, Limb hypertonia, Skeletal muscle hypertrophy, Slender build, Lipoatrophy, Cam... ORPHA:3455
Simpson-Golabi-Behmel Syndrome, Type 1
Short greater sciatic notch, Talipes equinovarus, Broad toe, Splenomegaly, Diastasis recti, 2-3 f... OMIM:312870
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Congenital diaphragmatic hernia, Aplastic clavicle, Preaxial polydactyly, ... OMIM:616546
Carpenter Syndrome 2
Cutaneous finger syndactyly, Talipes equinovarus, Aplasia of the middle phalanx of the hand, Post... OMIM:614976
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Cranial hyperostosis OMIM:601345
Joubert Syndrome 39
Overweight, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Dysphagia, Short 5th toe, Failure to thrive in infancy, Polydactyly, Small for ges... ORPHA:268261
Loeys-Dietz Syndrome 2
Talipes equinovarus, Postaxial polydactyly, Osteoporosis, Craniosynostosis, Arachnodactyly, Joint... OMIM:610168
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Calcaneal epiphyseal stippling, Short humerus, Clinodactyly of the 5t... OMIM:117650
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Postaxial polydactyly, Failure to thrive, Elevated circulating creatinine concentrat... OMIM:619534
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Facial hypotonia, Hip dysplasia, Broad hallux, Clinodactyly of the 5th fin... ORPHA:457284
Ulbright-Hodes Syndrome
Fibular aplasia, Maternal diabetes, Abnormal forearm bone morphology, Talipes equinovarus, Phocom... ORPHA:3404
Retinoblastoma
Leukemia, Lymphoma, Osteosarcoma, Pinealoma, Retinoblastoma, Ewing sarcoma OMIM:180200
Microphthalmia, Syndromic 6
Toe syndactyly, Abnormality of the hand, Short middle phalanx of finger, Single transverse palmar... OMIM:607932
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Keloids, Meningioma, Polydactyly, Adducted thumb, Corneal scarring, Obesity, Avascular necrosis o... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Keloids, Meningioma, Polydactyly, Adducted thumb, Corneal scarring, Obesity, Avascular necrosis o... ORPHA:353277
Lacrimoauriculodentodigital Syndrome
Radial deviation of the 3rd finger, Absent proximal phalanx of thumb, Hypoplasia of the radius, A... OMIM:149730
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypoglycemia, Polydactyly, Osteopenia, Abnormal digit morphology, Osteoporosis of vertebrae ORPHA:95494
Vater/Vacterl Association
Triphalangeal thumb, Failure to thrive, Hypoplasia of the radius, Absent radius, Preaxial polydac... OMIM:192350
Okamoto Syndrome
Omphalocele, Hip dysplasia, Polydactyly, Splenomegaly ORPHA:2729
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Alström Syndrome
Type II diabetes mellitus, Polyphagia, Insulin resistance, Short finger, Hyperlipidemia, Dorsocer... 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.

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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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