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Gene: Crabp2 MGI:88491

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Gene Summary

Name:
cellular retinoic acid binding protein II
Synonyms:
CrabpII,  Crabp-2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Crabp2em1(IMPC)Mbp HOM Early adult 0.00
decreased erythrocyte cell number Crabp2em1(IMPC)Mbp HOM Early adult 7.13×10-05
increased heart weight Crabp2em1(IMPC)Mbp HOM Early adult 1.22×10-05
abnormal heart morphology Crabp2em1(IMPC)Mbp HOM Early adult 0.00

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

116 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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Histopathology

Images

6 Images

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Human diseases caused by Crabp2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Crabp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polydactyly, Postaxial, Type A9
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618219
Polydactyly, Postaxial, Type A10
Postaxial foot polydactyly, Postaxial polydactyly type A, Postaxial hand polydactyly OMIM:618498
Oliver Syndrome
Postaxial hand polydactyly OMIM:258200
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Polydactyly, Postaxial, Type A2
Postaxial hand polydactyly OMIM:602085
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1566
Polydactyly, Preaxial I
Radial deviation of thumb terminal phalanx, Partial duplication of thumb phalanx, Preaxial hand p... OMIM:174400
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Scalp Defects And Postaxial Polydactyly
Postaxial polydactyly type A OMIM:181250
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Brachydactyly, Type C
Angel-shaped phalanx, Ulnar deviation of the 2nd finger, Triangular epiphysis of the proximal pha... OMIM:113100
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Polydactyly, Postaxial, With Progressive Myopia
Postaxial hand polydactyly OMIM:174310
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 5th finger, Short 2nd toe, Short thumb, Postaxial hand polydactyly OMIM:176305
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Ethanolaminosis
Cardiomegaly OMIM:227150
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Preaxial Hallucal Polydactyly
Preaxial foot polydactyly, Preaxial hand polydactyly OMIM:601759
Syndactyly Type 1
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... OMIM:611263
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly ORPHA:2091
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Bardet-Biedl Syndrome 11
Polydactyly OMIM:615988
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Bardet-Biedl Syndrome 14
Polydactyly OMIM:615991
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Preaxial polydactyly, Genu valgum, Single transverse ... OMIM:617927
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Polydactyly, Postaxial, Type A6
Postaxial foot polydactyly, Broad phalanges of the 5th finger, Postaxial hand polydactyly OMIM:615226
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Weyers Acrofacial Dysostosis
Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly, Clinodactyly of the 5th fi... OMIM:193530
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Polydactyly-Myopia Syndrome
Postaxial hand polydactyly ORPHA:2917
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Postaxial foot polydactyly, Acetabular spurs, Brachydactyly, Postaxial hand polydactyly, Trident ... OMIM:617405
Bardet-Biedl Syndrome 10
Polydactyly OMIM:615987
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... OMIM:617102
Joubert Syndrome 20
Postaxial polydactyly, 4-5 toe syndactyly OMIM:614970
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Postaxial hand polydactyly ORPHA:2155
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Scalp Defects-Postaxial Polydactyly Syndrome
Postaxial polydactyly type A ORPHA:1003
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Bardet-Biedl Syndrome 8
Postaxial polydactyly OMIM:615985
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Brachydactyly OMIM:600151
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Bardet-Biedl Syndrome 19
Postaxial polydactyly, Y-shaped metacarpals, Postaxial foot polydactyly, Mesoaxial hand polydactyly OMIM:615996
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Hypomelia With Mullerian Duct Anomalies
Split hand, Postaxial hand polydactyly OMIM:146160
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Postaxial polydactyly, Hand polydactyly,... OMIM:258860
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Postaxial hand polydactyly OMIM:615937
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Polysyndactyly of hallux, Preaxial foot polydactyly OMIM:235750
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Brachydactyly, Short long bone OMIM:615633
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Simpson-Golabi-Behmel Syndrome, Type 2
Postaxial hand polydactyly, Broad thumb, Short finger OMIM:300209
Joubert Syndrome 18
Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial polydactyly, Camptodactyly OMIM:614815
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Brachydactyly, Short long bone, Polydactyly OMIM:613819
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... OMIM:615550
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Overlapping toe, Overlapping fingers, Postaxial polydactyly, Bilateral tali... OMIM:618142
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Postaxial polydactyly, Ulnar deviation of the hand, Postaxial hand po... OMIM:614175
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Genu valgum, Arachnodactyly, Postaxial polydactyly, Clinod... OMIM:619721
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Sandal gap OMIM:615761
Joubert Syndrome 24
Talipes equinovarus, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:616654
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E... OMIM:618052
Congenital Toxoplasmosis
Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Joubert Syndrome 7
Postaxial polydactyly, Genu valgum, Postaxial hand polydactyly OMIM:611560
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2... OMIM:617866
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... OMIM:217085
Hydrolethalus Syndrome 2
Preaxial foot polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:614120
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... OMIM:617895
Nephronophthisis 15
Polydactyly OMIM:614845
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Cardiomegaly OMIM:618838
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Orofaciodigital Syndrome Xvii
Clinodactyly, Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polyd... OMIM:617926
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Houge-Janssens Syndrome 2
Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip dysplasia OMIM:616362
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly ORPHA:544254
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndactyly, Congeni... ORPHA:435638
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... OMIM:277170
Bardet-Biedl Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615981
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Overlapping toe, Tapered finger OMIM:613792
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Attrv122I Amyloidosis
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... ORPHA:85451
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cardiac myxoma, Cardiomegaly ORPHA:615
Joubert Syndrome 23
Polydactyly OMIM:616490
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... OMIM:146510
Bardet-Biedl Syndrome 16
Polydactyly OMIM:615993
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Polydactyly, Brachydactyly, Postaxial han... OMIM:615994
Orofaciodigital Syndrome Xv
Duplication of phalanx of hallux, Broad hallux, Postaxial hand polydactyly OMIM:617127
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Clinodactyly, Genu valgum, Polydactyly, Flattened epiphysis, Tapered finger OMIM:607131
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:607361
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy OMIM:600649
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
Laurence-Moon Syndrome
Abnormality of the hand, Polydactyly OMIM:245800
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo... ORPHA:860
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Pseudo-Torch Syndrome 3
Anemia, Cardiomegaly, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac... ORPHA:404440
Biemond Syndrome Type 2
Preaxial polydactyly ORPHA:141333
Tarp Syndrome
Clinodactyly, Single transverse palmar crease, Postaxial polydactyly, Talipes equinovarus, Short ... OMIM:311900
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Target cell... OMIM:603903
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Joubert Syndrome 22
2-3 toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:615665
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617907
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Neurooculocardiogenitourinary Syndrome
Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:618652
Neuraminidase Deficiency
Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foa... OMIM:256550
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Joubert Syndrome 16
Polydactyly OMIM:614465
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ... ORPHA:555874
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Brachydactyly, Rudiment... OMIM:600325
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep... ORPHA:3092
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... ORPHA:3202
Meckel Syndrome, Type 5
Bowing of the long bones, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:611561
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Joubert Syndrome 37
Postaxial polydactyly OMIM:619185
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e... OMIM:300280
Erythrocytosis, Familial, 4
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:611783
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Polydactyly OMIM:616910
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion OMIM:614702
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... OMIM:620642
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly OMIM:619051
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Myofibe... OMIM:115197
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polyd... OMIM:619879
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Foot polydactyly, Split hand, Phocomelia ORPHA:3004
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly OMIM:615824
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... OMIM:209900
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Pericardial constriction, Myocardial fibrosis OMIM:253250
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Metatarsus valgus, ... ORPHA:3082
Cranioectodermal Dysplasia 3
Rhizomelia, 2-4 toe syndactyly, Sandal gap, Postaxial polydactyly, 2-3 toe syndactyly, Brachydactyly OMIM:614099
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Preaxial foot polydactyly, Postaxial polydactyly, Postaxial hand polydactyly OMIM:619471
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Hypertrophic cardiomyopathy, Endocardial fibroelastosis, Cardiomegaly, Hepatomegaly OMIM:212140
Aorta Coarctation
Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ... ORPHA:1457
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Stippled calcification in carpal... OMIM:302960
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly OMIM:602501
Frontonasal Dysplasia 1
Joint contracture of the hand, Clinodactyly, Radial deviation of finger, Pectoral muscle hypoplas... OMIM:136760
Congenital Disorder Of Glycosylation, Type Iil
Postaxial polydactyly, Hip dysplasia OMIM:614576
Joubert Syndrome 27
Polydactyly OMIM:617120
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Joubert Syndrome 39
Postaxial polydactyly, Joint contracture of the 5th finger OMIM:619562
Macrodactyly
Macrodactyly OMIM:155500
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Postaxial hand polydact... OMIM:619143
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Iron deficiency anemia, Cardiomegaly ORPHA:99931
Orofaciodigital Syndrome V
Postaxial polydactyly, Postaxial foot polydactyly, Sandal gap, Postaxial hand polydactyly OMIM:174300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Rhizomelia, Short tibia, Preaxial polydactyly, Hypoplastic pelvis, Fibular hypoplasia, Postaxial ... OMIM:616300
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C... ORPHA:2041
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Joubert Syndrome 32
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617757
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cone-shaped epiphysis, Rhizomelic arm shortening, Proximal femoral metaphyseal irregularity, Abno... ORPHA:397715
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig... ORPHA:439
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Acrofacial Dysostosis, Weyers Type
Postaxial hand polydactyly, Small hand, Clinodactyly of the 5th finger, Overlapping fingers ORPHA:952
Retinitis Pigmentosa 51
Polydactyly OMIM:613464
Timothy Syndrome
Tetralogy of Fallot, Cardiomegaly, Patent foramen ovale, Ventricular septal defect OMIM:601005
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Polydactyly, Short 4th metaca... OMIM:169400
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Overlapping toe, Clinodactyly of the 4th... ORPHA:221120
Carpenter Syndrome 1
Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Deviation of finger, Ap... OMIM:201000
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Postaxial hand polydactyly, Hip dislocation OMIM:241800
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy OMIM:235200
Meckel Syndrome, Type 2
Bowing of the long bones, Polydactyly, Postaxial hand polydactyly OMIM:603194
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Postaxial polydactyly, Hip dysplasia, Short foot, Hip dislocation, Tapered finger OMIM:300968
Long-Olsen-Distelmaier Syndrome
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect OMIM:620609
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... ORPHA:2886
Bardet-Biedl Syndrome 12
Postaxial hand polydactyly, Postaxial foot polydactyly, Polydactyly OMIM:615989
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Acalvaria
Postaxial hand polydactyly ORPHA:945
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Polydactyly, Clinodactyly of the 5th finger, Syndactyly ORPHA:397590
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Oliver Syndrome
Postaxial foot polydactyly, Short toe, Prominent fingertip pads, Camptodactyly of finger, Elbow f... ORPHA:2920
Acrocallosal Syndrome
Triphalangeal thumb, Postaxial hand polydactyly ORPHA:36
Ventriculomegaly With Cystic Kidney Disease
Postaxial polydactyly OMIM:219730
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Culler-Jones Syndrome
Postaxial polydactyly OMIM:615849
Meckel Syndrome, Type 8
Talipes equinovarus, Polydactyly OMIM:613885
Joubert Syndrome 15
Preaxial polydactyly OMIM:614464
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidrosis, Long fingers,... OMIM:617527
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly ORPHA:83473
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Cardiomegaly, Mitral valve prolapse, Abnormal atrioventricular valve morph... ORPHA:324410
Joubert Syndrome 14
Postaxial polydactyly OMIM:614424
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Suleiman-El-Hattab Syndrome
Brachydactyly, Clinodactyly, Single transverse palmar crease, Polydactyly OMIM:618950
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1389
Senior-Loken Syndrome 9
Polydactyly, Hypoplasia of the femoral head OMIM:616629
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Joubert Syndrome 10
Postaxial foot polydactyly, Brachydactyly, Postaxial hand polydactyly OMIM:300804
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... OMIM:211750
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Carpenter Syndrome 2
Broad thumb, Preaxial polydactyly, Cutaneous finger syndactyly, Bilateral postaxial polydactyly, ... OMIM:614976
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Genu valgum, Brachydactyly, Short long bone, Postaxial hand polydactyly, Cone-shaped epiphyses of... OMIM:615630
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short tibia, Preaxial polydactyly, Fibular hypoplasia, Postaxial polydactyly, Narrow greater scia... OMIM:617925
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly OMIM:616546
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valve atresia, Doubl... ORPHA:3427
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:616897
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Rhombencephalosynapsis
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly ORPHA:59315
Cirrhotic Cardiomyopathy
Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e... ORPHA:57777
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial foot polydactyly, Hypoplastic iliac wing, Acetabular spurs, Gen... OMIM:225500
Orofaciodigital Syndrome Iii
Short sternum, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:258850
Au-Kline Syndrome
Overlapping toe, Postaxial polydactyly, Deep palmar crease, Hip dysplasia, Clinodactyly of the 5t... OMIM:616580
Bardet-Biedl Syndrome 21
Postaxial hand polydactyly OMIM:617406
Mogs-Cdg
Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atrial septal defect, Thrombocyto... ORPHA:79330
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Bo... OMIM:249000
Danon Disease
Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Myocardia... OMIM:300257
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Abnormality of the wrist, Absent hand, P... ORPHA:3138
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Postaxial polydactyly, Clinodactyly of the 5th finger, Broad hallux, Hip dysplasia ORPHA:457284
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:608013
Complete Atrioventricular Septal Defect
Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph... ORPHA:1329
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Cone-shaped epiphysis, Postaxial polydactyly, Short clavicles, Brachydactyly, Short long bone, Po... OMIM:617088
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... ORPHA:2754
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Ventricular septal defect, Cardiomegaly, ... ORPHA:363705
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
9Q21.13 Microdeletion Syndrome
Hip dysplasia, Polydactyly ORPHA:531151
Joubert Syndrome 30
Postaxial hand polydactyly OMIM:617622
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Non-Distal Duplication 13Q
Arachnodactyly, Postaxial hand polydactyly ORPHA:1702
Naxos Disease
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... OMIM:601214
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect OMIM:617022
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Cerebrooculonasal Syndrome
Postaxial polydactyly, Postaxial hand polydactyly OMIM:605627
Khan-Khan-Katsanis Syndrome
Postaxial polydactyly, Clinodactyly OMIM:618460
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy ORPHA:465508
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Retinitis Pigmentosa 74
Polydactyly OMIM:616562
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Cardiomyopathy OMIM:105210
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Dandy-Walker Malformation With Postaxial Polydactyly
Postaxial hand polydactyly OMIM:220220
Choanal Atresia
Polydactyly ORPHA:137914
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s... ORPHA:1478
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Postaxial foot polydactyly, Overlapping fingers, Talipes equinovarus, Deep palmar crease, Postaxi... OMIM:301056
Orofaciodigital Syndrome Type 5
Ectopic accessory finger-like appendage, Postaxial foot polydactyly, Postaxial polysyndactyly of ... ORPHA:2919
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ... OMIM:620066
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial... OMIM:261740
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Enlarged metaphyses, Abnormal ilium morphology, Aplasia/hypoplasia involving bones of the extremi... ORPHA:508533
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly ORPHA:139471
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Rhizomelia, Metaphyseal cupping, Micromelia, Short fin... OMIM:215140
Orofaciodigital Syndrome Xvi
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:617563
Orofaciodigital Syndrome Xix
Toe syndactyly, Postaxial foot polydactyly, Broad hallux, Type A brachydactyly, Postaxial hand po... OMIM:620107
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Ventricular septal defect, Cardiomegaly,... OMIM:602782
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Postaxial polydactyly, Talipes equinovarus, Hip dysplasia ORPHA:352665
Senior-Loken Syndrome 8
Polydactyly OMIM:616307
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post... OMIM:610168
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Simpson-Golabi-Behmel Syndrome, Type 1
Short distal phalanx of finger, Broad thumb, Short finger, Short greater sciatic notch, Postaxial... OMIM:312870
Apert Syndrome
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... OMIM:101200
Trisomy 13
Abnormal pelvic girdle bone morphology, Bilateral single transverse palmar creases, Ectrodactyly,... ORPHA:3378
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Ventricular septal defect OMIM:614921
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Elbow dislocation, Postaxial hand polydactyly ORPHA:2916
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos... ORPHA:2473
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Cardiomegaly, Enlarged kidney, Dilated cardiomyopathy OMIM:608836
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, C... ORPHA:480880
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly OMIM:620306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula... OMIM:245600
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Single transverse palmar crease, Polydactyly, 2-3 toe synd... ORPHA:404448
Truncus Arteriosus
Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept... ORPHA:3384
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Cardiomyopathy ORPHA:228308
Orofaciodigital Syndrome Type 3
Short sternum, Postaxial foot polydactyly, Postaxial hand polydactyly ORPHA:2752
Absence Of The Pulmonary Artery
Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom... ORPHA:980
Bresek Syndrome
Postaxial hand polydactyly ORPHA:85284
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s... ORPHA:95430
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Loeys-Dietz Syndrome 1
Arachnodactyly, Talipes equinovarus, Postaxial polydactyly, Postaxial hand polydactyly, Camptodac... OMIM:609192
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Polydactyly, Down-sloping shoulders, Short 4th me... OMIM:109400
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Brachydact... OMIM:263520
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:230000
Mend Syndrome
Broad hallux, Overlapping toe, Overlapping fingers, Polydactyly, 2-3 toe syndactyly, Long fingers OMIM:300960
Meckel Syndrome, Type 4
Bowing of the long bones, Postaxial hand polydactyly OMIM:611134
Familial Idiopathic Dilatation Of The Right Atrium
Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atrial septal dilatation, Right ventricular... ORPHA:1677
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin... ORPHA:110
Cerebrooculonasal Syndrome
Postaxial hand polydactyly ORPHA:66625
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Plaa-Associated Neurodevelopmental Disorder
Postaxial foot polydactyly, Single transverse palmar crease, Long fingers, Postaxial hand polydac... ORPHA:521426
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, Cardiomegal... OMIM:620376
Abetalipoproteinemia
Acanthocytosis, Reticulocytosis, Cardiomegaly, Hepatomegaly, Anemia ORPHA:14
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Congenital Sialidosis Type 2
Polydactyly ORPHA:93400
Lathosterolosis
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, 2-4 toe cutaneous syndactyly, Talipes e... OMIM:607330
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Preaxia... OMIM:200990
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:75389
Kinsship Syndrome
Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Coxa valga, Dislocated radial h... OMIM:619297
Meckel Syndrome, Type 6
Talipes equinovarus, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:612284
Hydrolethalus
Micromelia, Postaxial hand polydactyly ORPHA:2189
3Mc Syndrome 3
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly OMIM:248340
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Hip contracture, Bowing ... OMIM:210710
Orofaciodigital Syndrome Type 1
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... ORPHA:2750
Mucopolysaccharidosis Type 3
Splenomegaly, Abnormal mitral valve morphology, Abnormal aortic valve morphology, Cardiomegaly, A... ORPHA:581
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2nd toe, Syndactyly OMIM:311200
Helsmoortel-Van Der Aa Syndrome
Small hand, Sandal gap, Prominent fingertip pads, Short 4th toe, Broad hallux, Genu valgum, Polyd... OMIM:615873
Genitopalatocardiac Syndrome
Brachydactyly, Postaxial hand polydactyly ORPHA:2075
Ogden Syndrome
Secundum atrial septal defect, Polycythemia, Patent foramen ovale, Ventricular septal defect, Car... OMIM:300855
Dyrk1A-Related Intellectual Disability Syndrome
Toe syndactyly, Polydactyly, Arachnodactyly, Hallux valgus, Clinodactyly of the 5th finger, Acrom... ORPHA:464306
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th... OMIM:180849
Mucolipidosis Ii Alpha/Beta
Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:252500
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Rhizomelia, Phalangeal cone-shaped epiphyses, Short toe, Clinodactyly of the 2nd finger, Absent m... OMIM:266920
Monosomy 13Q34
Postaxial foot polydactyly, Postaxial hand polydactyly ORPHA:96168
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Congenital Total Pulmonary Venous Return Anomaly
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... ORPHA:99125
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly OMIM:236700
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd... OMIM:613610
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Pseudotrisomy 13 Syndrome
2-3 toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:264480
Legius Syndrome
Clinodactyly of the 5th finger, Polydactyly ORPHA:137605
Coach Syndrome 1
Postaxial hand polydactyly OMIM:216360
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Chronic ly... ORPHA:51
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Cardiomegaly, Splenic cyst, Patent foramen ovale OMIM:620371
Joubert Syndrome 1
Postaxial foot polydactyly, Clinodactyly, Postaxial hand polydactyly OMIM:213300
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:130650
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Polydactyly, Broad first metatarsal, Postaxial polydactyly, Syndactyly OMIM:619534
Tropical Endomyocardial Fibrosis
Restrictive cardiomyopathy, Endocardial fibrosis, Coronary artery stenosis, Right ventricular car... ORPHA:75565
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly ORPHA:2519
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Short femur, Short humerus, Polydactyly ORPHA:17
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology ORPHA:97297
Lathosterolosis
Toe syndactyly, Postaxial foot polydactyly, Postaxial hand polydactyly ORPHA:46059
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... OMIM:149730
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:365
Faciocardiomelic Syndrome
Hypoplastic pelvis, Slender long bone, Polydactyly OMIM:612731
Trisomy 18
Deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Bilateral single tran... ORPHA:3380
Joubert Syndrome 2
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:608091
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Supernumerary metacarpal bones, Polydactyly affecting... ORPHA:672
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Leukopenia, Splenomegaly, Patent foramen ovale, Ventricular... OMIM:619991
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Short 5th toe, 2-4 toe cutaneous syndactyly, Polydactyly, Hallux valgus, Abnormal toe morphology,... ORPHA:268261
Schinzel-Giedion Midface Retraction Syndrome
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... OMIM:269150
Monosomy 9Q22.3
Palmar pits, Polydactyly ORPHA:77301
Focal Dermal Hypoplasia
Midclavicular hypoplasia, Congenital hip dislocation, Finger aplasia, Toe syndactyly, 3-4 finger ... OMIM:305600
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Splenomegaly, Cardiomegaly, Thrombocytopenia, Hepatomegaly OMIM:256040
Rabson-Mendenhall Syndrome
Polydactyly ORPHA:769
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact... ORPHA:373
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov... OMIM:619488
Beckwith-Wiedemann Syndrome
Visceromegaly, Polycythemia, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegal... ORPHA:116
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Postaxial hand polydactyly OMIM:235255
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Overlapping toe, Talipes equinovarus, Long fingers, Postaxial hand polydactyly, Hyperextensibilit... OMIM:213980
Smith-Lemli-Opitz Syndrome
2-3 toe cutaneous syndactyly, Postaxial foot polydactyly, Short toe, Short thumb, Micromelia, Ove... OMIM:270400
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl... OMIM:607932
Vater/Vacterl Association
Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb, Hypoplasia of the ... OMIM:192350
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353277
Distal Deletion 3P
Clinodactyly of the 5th finger, Postaxial hand polydactyly ORPHA:1620
Meckel Syndrome, Type 7
Postaxial foot polydactyly OMIM:267010
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Stromme Syndrome
Preaxial polydactyly OMIM:243605
Neurocardiofaciodigital Syndrome
Polydactyly, Syndactyly OMIM:619869
Acrocephalopolydactylous Dysplasia
Micromelia, Postaxial hand polydactyly OMIM:200995
Joubert Syndrome With Hepatic Defect
Postaxial hand polydactyly ORPHA:1454
Alstrom Syndrome
Polydactyly OMIM:203800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:1655
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly OMIM:301022
Charge Syndrome
Bifid femur, Abnormal tibia morphology, Polydactyly, Brachydactyly, Clinodactyly of the 5th finger ORPHA:138
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial septal defect ORPHA:3472
Williams Syndrome
Hypertrophic cardiomyopathy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defec... ORPHA:904
Orofaciodigital Syndrome Type 14
Postaxial foot polydactyly, Broad hallux, Deviation of the hallux, Duplication of phalanx of hall... ORPHA:434179
Meckel Syndrome
Bowing of the long bones, Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial hand p... ORPHA:564
Monosomy 9P
Abnormality of the tarsal bones, Proximal placement of thumb, Bilateral single transverse palmar ... ORPHA:261112
Arima Syndrome
Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:243910
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Talipes equinovarus, Duplication of phalanx of... OMIM:236680
Okamoto Syndrome
Hip dysplasia, Polydactyly ORPHA:2729
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv... OMIM:182250
Holoprosencephaly-Postaxial Polydactyly Syndrome
Postaxial hand polydactyly ORPHA:2166
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal digit morphology, Polydactyly ORPHA:95494
Orofaciodigital Syndrome Xiv
Preaxial polydactyly, Broad hallux, Postaxial hand polydactyly OMIM:615948
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Postaxial hand polydact... ORPHA:93271
Generalized Arterial Calcification Of Infancy
Cardiomegaly, Ventricular hypertrophy, Pericardial effusion, Myocardial calcification ORPHA:51608
Pallister-Killian Syndrome
Congenital hip dislocation, Rhizomelia, Small hand, Postaxial foot polydactyly, Short toe, Campto... OMIM:601803
Holoprosencephaly 9
Postaxial hand polydactyly OMIM:610829
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hip dislocation, Ectrodactyly, Postaxial hand polydactyly OMIM:308205

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Spleen - MPATH pathological process term hyperplasia Crabp2em1(IMPC)Mbp HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Crabp2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A regulatory circuit controlled by extranuclear and nuclear retinoic acid receptor α determines T cell activation and function. Immunity (August 2023) Crabp2tm1a(EUCOMM)Hmgu 37597518

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Crabp2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Crabp2em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
Crabp2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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