Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
collagen beta(1-O)galactosyltransferase 1
Synonyms:
2810024B22Rik,  Glt25d1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Colgalt1 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 Colgalt1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360

The table below shows human diseases predicted to be associated to Colgalt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Radial Hemimelia
Aplasia of the 1st metacarpal, Abnormal thumb morphology, Abnormality of the trapezium, Deviation... ORPHA:93321
Langer Mesomelic Dysplasia
Abnormality of epiphysis morphology, Mesomelic/rhizomelic limb shortening, Bowing of the long bon... ORPHA:2632
Craniosynostosis, Adelaide Type
Shortening of all distal phalanges of the fingers, Craniosynostosis, Cone-shaped epiphyses of the... OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed ossification of carpal bones, Short middle phalanx of finger, Short 1st metacarpal, Cone-... OMIM:182255
Brachydactyly, Type C
Triangular shaped middle phalanx of the 3rd finger, Triangular shaped proximal phalanx of the 2nd... OMIM:113100
Palant Cleft Palate Syndrome
Exaggerated cupid's bow, Contracture of the proximal interphalangeal joint of the 5th finger, Con... OMIM:260150
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Leri-Weill Dyschondrosteosis
Limited wrist movement, Dorsal subluxation of ulna, Abnormality of the metacarpal bones, Abnormal... OMIM:127300
Pierre Robin Sequence With Facial And Digital Anomalies
Pierre-Robin sequence, Easily subluxated first metacarpophalangeal joints, Short distal phalanx o... OMIM:311895
Acropectorovertebral Dysplasia
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Broad thumb, Synostosis of carpal bones... ORPHA:957
Robin Sequence-Oligodactyly Syndrome
Abnormality of the dentition, Abnormality of the metacarpal bones, Cleft palate, Glossoptosis, Ha... ORPHA:3104
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Elbow dislocation, Abnormally shaped carpal bones, Bilateral single transverse... ORPHA:968
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetabular roof, ... ORPHA:750
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Postaxial Oligodactyly, Tetramelic
Radial bowing, Postaxial hand polydactyly, Cone-shaped epiphysis, Lunate-triquetral fusion, Posta... OMIM:176240
Ulnar Hemimelia
Radial club hand, Short forearm, Spinal dysraphism, Duplication of phalanx of 3rd finger, Antecub... ORPHA:93320
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Upper limb undergrowth, Short metatarsal, Hypoplastic pelvis, Synostosis of carpal b... ORPHA:93351
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Elbow dislocation, Abnormally shaped carpal bones, Hypop... OMIM:201250
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated hepatic transaminase OMIM:606664
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Elevated hepatic transaminase, Failure to thrive OMIM:614582
Juberg-Hayward Syndrome
Limited elbow extension, Abnormality of the radial head, Aplasia/Hypoplasia of the thumb, Cleft u... OMIM:216100
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Short 4th ... ORPHA:50809
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Broad thumb, Finger syndactyly, Synostosis of carpal ... OMIM:102510
Anauxetic Dysplasia 1
Delayed ossification of carpal bones, Rhizomelia, Hypoplastic ilia, Short finger, Hypodontia, Cer... OMIM:607095
Léri-Weill Dyschondrosteosis
Limited wrist movement, Abnormality of tibia morphology, Dorsal subluxation of ulna, Elbow disloc... ORPHA:240
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Pulp calcification, Short phalanx of fing... OMIM:606895
Retinitis Pigmentosa 59
Intrauterine growth retardation, Elevated hepatic transaminase, Failure to thrive, Hepatomegaly OMIM:613861
Tarsal-Carpal Coalition Syndrome
Cubitus valgus, Humeroradial synostosis, Tarsal synostosis, Distal symphalangism of hands, Short ... OMIM:186570
Epiphyseal Dysplasia, Multiple, 7
Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, Advanced ossifi... OMIM:617719
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Short 4th metacarpal, Synov... OMIM:609655
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Narrow mout... OMIM:311300
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Platyspondylic Dysplasia, Torrance Type
Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing of the long bon... ORPHA:85166
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Pseudoepiphys... OMIM:105835
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Postnatal growth retardation, Decreased liver f... OMIM:617093
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Bowing of the legs, Cleft palate, Bowing of th... OMIM:249710
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Thin vermilion border, Shoulder flexion contracture, Camptodacty... OMIM:619110
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Broad thumb, Short phalanx of finger, Short metatarsal, Enlarged interphalangeal ... OMIM:151200
Du Pan Syndrome
Fibular aplasia, Short metatarsal, Short phalanx of finger, Rhizomelia, Brachydactyly, Fibular hy... OMIM:228900
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Postnatal growth retardation, Failure to thrive in infancy, Hepato... OMIM:232700
Disorganization, Mouse, Homolog Of
Limb duplication, Hand polydactyly, Cleft upper lip, Cleft palate, Hip dislocation OMIM:223200
Arthrogryposis, Distal, Type 2B2
Overlapping fingers, Narrow mouth, Camptodactyly, Adducted thumb, Sandal gap, Ulnar deviation of ... OMIM:618435
Van Der Woude Syndrome 2
Cleft palate, Cleft upper lip, Anodontia OMIM:606713
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Delayed ossification of carpal bones, Metaphyseal dysplasia, Genu varum OMIM:617974
Pseudoachondroplasia
Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Carpal bone hypoplasia... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Metaphyseal irregularity, Carpal bone hypoplasia, Long proximal phala... OMIM:603546
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Carious teeth, Genu valgum, Pierre-Robin sequence, Tooth agenesis, Short... OMIM:618363
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the ankles, Cleft palate, Abnormality of the wrist, Carpal syno... ORPHA:2010
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Congenital Bile Acid Synthesis Defect Type 3
Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnormality, Hep... ORPHA:79302
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Synostosis of carpal bones, Elbow dislocation, Aplasia/Hypoplasia of the radius, Abnormality of t... ORPHA:1275
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Elevated hepatic transaminase OMIM:189800
Otopalatodigital Syndrome Type 1
Short hallux, Oligodontia, Abnormality of the tarsal bones, Elbow dislocation, Synostosis of carp... ORPHA:90650
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Decreased finger mobility, Tarsal s... OMIM:112910
Mesomelia-Synostoses Syndrome
Abnormality of tibia morphology, Narrow mouth, Abnormality of the metacarpal bones, High, narrow ... ORPHA:2496
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Toe syndactyly, Cleft palate OMIM:183700
Ectrodactyly-Cleft Palate Syndrome
Split hand, Cleft palate OMIM:129830
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot, Cleft pa... DECIPHER:46
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph... OMIM:605282
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Camptodactyly of finger, Thin vermilion border, Abnormality of epiphysis morphology, Elbow disloc... ORPHA:2631
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Acrocapitofemoral Dysplasia
Flared iliac wing, Short distal phalanx of finger, Cone-shaped epiphysis of the 1st metacarpal, C... OMIM:607778
Mesomelic Dysplasia, Kantaputra Type
Cubitus valgus, Camptodactyly of finger, Tarsal synostosis, Abnormality of the ankles, Synostosis... ORPHA:1836
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormality of tibia morphology, Abnormal thumb morphology, Tarsal synostosis, Abnormality of epi... ORPHA:2639
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Aplasia/Hypoplasia of the radius, Ectopic anus,... ORPHA:2476
Glycogen Storage Disease Ixa1
Hepatomegaly, Growth delay, Elevated hepatic transaminase OMIM:306000
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Multiple Synostoses Syndrome 2
Humeroradial synostosis, Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symp... OMIM:610017
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Genu valgum, Irregular tarsal ossification, Irregular carpal bones, Hip subluxation, Cone-shaped ... OMIM:226980
Desbuquois Dysplasia 1
Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal gap, Flat ... OMIM:251450
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Hypoplasia of the femoral head, Metaphyseal irregularity, Narrow pelvis bone, Ulnar ... OMIM:610797
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Mesomelia, Solitary median maxillary central incisor, Hand oligodactyly... OMIM:602418
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Short stature OMIM:614480
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Recurrent patellar dislocation, Contracture of the distal interphalangeal joint of t... OMIM:216800
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu valgum, Multiple joint dislocation, Hip subluxation, Abnormal metatarsal morphology, Metaphy... ORPHA:93360
Symphalangism, Proximal, 1A
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:185800
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Cubitus valgus, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone,... OMIM:608154
Schneckenbecken Dysplasia
Advanced tarsal ossification, Metaphyseal irregularity, Stillbirth, Hypoplastic scapulae, Dumbbel... OMIM:269250
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Rosselli-Gulienetti Syndrome
Cutaneous syndactyly of toes, Abnormality of the philtrum, Anodontia, Hypodontia, Cutaneous finge... OMIM:225000
Acalvaria
Spina bifida, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate, Hydrocephalus ORPHA:945
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Sandal gap, Wide capital femoral epiphy... OMIM:147891
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Mesomelic arm shortening, Distal ulnar epiphyseal stippling, Broad toe, Delayed ossification of c... OMIM:609616
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Growth delay, Elevated hepatic transaminase, Failure to thrive OMIM:615895
Holzgreve Syndrome
Hand polydactyly, Cleft upper lip, Cleft palate OMIM:236110
Acrorenal Syndrome
Abnormality of tibia morphology, Split hand, Aplasia/Hypoplasia of the radius, Cleft palate, Abno... ORPHA:971
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Ulnar deviation of the hand, Carpal osteolysis, Uln... OMIM:166300
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatomegaly, Prol... OMIM:214950
Seckel Syndrome 7
Hip dysplasia, Clinodactyly, Madelung deformity, Abnormality of the carpal bones OMIM:614851
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Overlapping fingers, Camptodactyly, Limb undergrowth, Cleft upper lip, Cleft palate, Joint contra... OMIM:601016
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Radioulnar synostosis, Bowing of the long bones, Non-midline cleft lip, Sandal gap, Abnormal hip ... ORPHA:2725
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Radial head subluxatio... OMIM:186400
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Radioulnar synostosis, Lateral humeral condyle aplasia, Synostosis of ca... ORPHA:2741
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Congenital Bile Acid Synthesis Defect Type 2
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... ORPHA:79303
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Flat acetabular roof, Delayed tarsal ossification, Long thumb, Dela... OMIM:600002
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Brachydactyly OMIM:618392
Odontochondrodysplasia 1
Long philtrum, Delayed eruption of teeth, Short phalanx of finger, Cone-shaped epiphyses of the p... OMIM:184260
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Eleva... OMIM:613812
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Narrow mouth, Short foot, Short metacarpal, Cleft palate, Short toe, Brachydactyly, ... OMIM:614078
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Hydrocephalus OMIM:614120
Chondrodysplasia, Blomstrand Type
Squared iliac bones, Advanced tarsal ossification, Stillbirth, Flared metaphysis, Advanced ossifi... OMIM:215045
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of tibia morphology, Synostosis of carpal bones, Elbow dislocation, Radial head sublu... ORPHA:2634
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Type E brachydactyly, Limited elbow extension, Delayed pubic bone ossification, Ab... ORPHA:1856
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Long upper lip, Carpal synostosis, Flared metaphysis, Hip dislocation, Cleft palate, Talipes equi... OMIM:615349
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Biliary tract abnor... ORPHA:79301
Limb-Mammary Syndrome
Split hand, Camptodactyly, Hypodontia, Syndactyly, Split foot, Joint contracture of the hand, Cle... OMIM:603543
Combined Oxidative Phosphorylation Deficiency 30
Decreased liver function, Elevated hepatic transaminase, Failure to thrive OMIM:616974
Desbuquois Dysplasia 2
Broad thumb, Short phalanx of finger, Dental crowding, Flat acetabular roof, Toe clinodactyly, Sh... OMIM:615777
Van Der Woude Syndrome 1
Hypodontia, Cleft upper lip, Cleft palate, Bifid uvula, Lower lip pit OMIM:119300
Ivic Syndrome
Limited wrist movement, Carpal bone hypoplasia, Intestinal malrotation, Rectovaginal fistula, Sho... OMIM:147750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Genu valgum, Upper limb undergrowth, Short metatarsal, Broad palm, Capit... OMIM:271650
Baller-Gerold Syndrome
Narrow mouth, Bowing of the long bones, Aplasia/Hypoplasia of the radius, Abnormality of the meta... ORPHA:1225
Congenital Disorder Of Glycosylation, Type Iip
Hepatic steatosis, Decreased liver function, Elevated circulating alkaline phosphatase concentrat... OMIM:616829
Dyggve-Melchior-Clausen Disease
Limited elbow extension, Genu valgum, Limited knee extension, Rhizomelia, Abnormal pelvis bone mo... ORPHA:239
Multiple Epiphyseal Dysplasia Type 4
Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Double-layered patella, Shor... ORPHA:93307
Orofaciodigital Syndrome V
Postaxial hand polydactyly, Aganglionic megacolon, Postaxial foot polydactyly, Lobulated tongue, ... OMIM:174300
Rhizomelic Syndrome, Urbach Type
Abnormality of the tongue, Abnormality of the knee, Preaxial hand polydactyly, Abnormality of epi... ORPHA:3098
49,Xyyyy Syndrome
Large carpal bones, Cubitus valgus, Bridged palmar crease, Radioulnar synostosis, Finger clinodac... ORPHA:99330
Acromesomelic Dysplasia, Demirhan Type
Aplasia of the proximal phalanges of the hand, Tarsal synostosis, Short phalanx of finger, Short ... OMIM:609441
Multiple Epiphyseal Dysplasia With Robin Phenotype
Genu valgum, Dislocated radial head, Short femur, Talipes equinovarus, Rhizomelia, Irregular epip... OMIM:601560
Mohr Syndrome
Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue, High palat... OMIM:252100
Dwarfism With Stiff Joints And Ocular Abnormalities
Delayed ossification of carpal bones, Lower limb undergrowth, Short phalanx of finger, Short lowe... OMIM:127200
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Enlarged joints, Carpal bone hypoplasia, Severe carpal ossification de... OMIM:184252
Larsen Syndrome
Broad distal phalanx of finger, Craniosynostosis, Broad thumb, Accessory carpal bones, Large join... ORPHA:503
Muenke Syndrome
Broad thumb, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of finger, ... OMIM:602849
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Downturned corners of mouth, Abnormality of epiphysis morphology, Metaca... ORPHA:2774
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatocellular carcinoma, Hepatic fibrosi... ORPHA:369
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, High, narr... ORPHA:3238
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Hypodontia, Neural tube defect, Clinodactyly, Anal atresia, Cleft upper lip... OMIM:119580
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Elevated circula... OMIM:235555
Acheiropody
Absent hand, Absent forearm, Carpal bone aplasia, Lower limb peromelia, Aplasia of the ulna, Shor... OMIM:200500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Long philtrum, Cubitus valgus, Short toe, Short phalanx of finger, Tapered metacarpals, Single in... OMIM:611717
Muenke Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Short foot, Carpal synostosis, Coronal craniosynostosis... ORPHA:53271
Microphthalmia With Limb Anomalies
Talipes equinovarus, Postaxial hand polydactyly, Toe syndactyly, Fused fourth and fifth metacarpa... OMIM:206920
Orofaciodigital Syndrome Iv
Hand polydactyly, Toe syndactyly, Tongue nodules, Short finger, Hamartoma of tongue, Postaxial po... OMIM:258860
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Dislocated radial head, Multiple joint dislocation, Metaphyseal irregularity, Carpal bone hypopla... OMIM:618395
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Hydrocep... OMIM:260660
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Toe clinodactyly, Small epiphys... ORPHA:457395
Cholestasis, Progressive Familial Intrahepatic, 5
Cirrhosis, Elevated hepatic transaminase, Jaundice, Hepatic failure, Failure to thrive OMIM:617049
Distal Limb Deficiencies-Micrognathia Syndrome
Oligodactyly, Tarsal synostosis, Narrow mouth, Abnormality of the ankles, Aplasia/Hypoplasia of t... ORPHA:1307
Oculofaciocardiodental Syndrome
Oligodontia, Intestinal malrotation, Flexion contracture of the 2nd toe, Solitary median maxillar... ORPHA:2712
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Metaphyseal widening, Camptodactyly, Broad long bones, Bowing of the long bones, Short long bone,... OMIM:224400
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated hepatic transaminase, Abnormal liver function tests ... OMIM:147480
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Craniosynostosis, Split hand, Carpal bone hypoplasia, Short long bone, So... OMIM:252600
Mesomelic Dysplasia, Kantaputra Type
Radial bowing, Tarsal synostosis, Mesomelia, Carpal synostosis OMIM:156232
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Genu valgum, Camptodactyly of finger, Scapular winging, Persistence of... OMIM:305620
Cleft Lip/Palate
Agenesis of lateral incisor, Oral cleft, Peg-shaped maxillary lateral incisors, Abnormality of de... ORPHA:199306
Larsen Syndrome
Dislocated wrist, Multiple carpal ossification centers, Short metatarsal, Elbow dislocation, Acce... OMIM:150250
Microphthalmia With Limb Anomalies
Thin vermilion border, Tarsal synostosis, Broad thumb, Elbow dislocation, Bilateral single transv... ORPHA:1106
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Synostosis of carpal bones, Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Pat... ORPHA:988
Benign Recurrent Intrahepatic Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Cholelithiasis, Weight loss, ... ORPHA:65682
Qazi-Markouizos Syndrome
Drooling, Hypoplasia of teeth, Open mouth, Broad philtrum, Delayed ossification of carpal bones, ... ORPHA:3010
Pfeiffer Syndrome
Hip dysplasia, Short philtrum, Broad thumb, Open mouth, Synostosis of carpal bones, Finger syndac... ORPHA:710
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal widening, Genu valgum, Metaphyseal irregularity, Broad palm, Broad phalanx, Carpal bo... OMIM:250420
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomegaly, Jaund... OMIM:214900
Hepatitis, Fulminant Viral, Susceptibility To
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure OMIM:618549
Microcephalic Primordial Dwarfism, Dauber Type
Hip dysplasia, Madelung deformity, Limb undergrowth, Abnormality of the carpal bones, Short middl... ORPHA:319675
Schisis Association
Spina bifida, Anencephaly, Unilateral cleft lip, Anal atresia, Cleft palate, Tracheoesophageal fi... ORPHA:63862
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Flared iliac wing, Elbow dislocation, Abnormality o... ORPHA:90652
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Aplasia/hypoplasia involving bones of the extremities, Delayed ossification of car... ORPHA:93346
Meckel Syndrome, Type 5
Postaxial hand polydactyly, Bowing of the long bones, Anencephaly, Postaxial foot polydactyly, Cl... OMIM:611561
Cenani-Lenz Syndrome
Oligodactyly, Short philtrum, Abnormal dental enamel morphology, Hypoplasia of the radius, Radiou... ORPHA:3258
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate ORPHA:2521
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Interphalangeal jo... OMIM:259600
Ruvalcaba Syndrome
Thin vermilion border, Abnormality of vertebral epiphysis morphology, Narrow mouth, Dental crowdi... ORPHA:3121
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Absent phalangeal crease, Fused thoracic vertebrae, Cleft palate, Antecubital ... OMIM:618469
Dyggve-Melchior-Clausen Disease
Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Iliac crest serration, Flat acetabular r... OMIM:223800
Hyperphosphatasia With Mental Retardation Syndrome 1
Short philtrum, Short toe, Downturned corners of mouth, Delayed ossification of carpal bones, Abn... OMIM:239300
Pelvis-Shoulder Dysplasia
Dislocated radial head, Spina bifida, Camptodactyly of finger, Mesomelic/rhizomelic limb shorteni... ORPHA:2839
Hajdu-Cheney Syndrome
Foot acroosteolysis, Long philtrum, Wormian bones, Genu valgum, Dislocated radial head, Intestina... OMIM:102500
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Elevated hepatic transaminase, Giant cell hepatitis, Intrahepatic cholestasis, Hepatom... OMIM:607765
Aase-Smith Syndrome I
Open mouth, Slender finger, Cleft palate, Talipes equinovarus, Hydrocephalus OMIM:147800
Van Der Woude Syndrome
Abnormal salivary gland morphology, Lip pit, Hypodontia, Cleft upper lip, Cleft palate, Lower lip... ORPHA:888
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Genu valgum, Cone-shaped epiphyses of the phalanges of the hand, Hypopla... OMIM:304950
Meckel Syndrome, Type 2
Postaxial hand polydactyly, Polydactyly, Bowing of the long bones, Anencephaly, Meningocele, Clef... OMIM:603194
Waardenburg Syndrome, Type 3
Camptodactyly of finger, Scapular winging, Aganglionic megacolon, Clinodactyly, Cutaneous finger ... OMIM:148820
Spondylometaphyseal Dysplasia, Algerian Type
Genu valgum, Hypoplastic pelvis, Carpal bone hypoplasia, Flared femoral metaphysis, Short greater... OMIM:184253
Hand-Foot-Genital Syndrome
Short hallux, Small thenar eminence, Hallux varus, Delayed ossification of carpal bones, Short 1s... OMIM:140000
Robin Sequence With Cleft Mandible And Limb Anomalies
Hip subluxation, Narrow mouth, Short phalanx of finger, Aplasia of the epiglottis, Acetabular dys... OMIM:268305
Sclerosing Cholangitis, Neonatal
Cirrhosis, Elevated hepatic transaminase, Sclerosing cholangitis, Biliary cirrhosis, Cholestasis,... OMIM:617394
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Hand oligodactyly, Coalescence of tarsal bones, Cleft palate, Fibular ... OMIM:165590
Van Den Ende-Gupta Syndrome
Distal ulnar hypoplasia, Craniosynostosis, Dental crowding, High palate, High, narrow palate, Uln... OMIM:600920
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatic fibrosis, Jaundice, Hepatomegaly, Hepatic failure, Portal ... OMIM:616278
Trisomy 8Q
Deep palmar crease, Camptodactyly of finger, Everted lower lip vermilion, Non-midline cleft lip, ... ORPHA:1752
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Cholestasis ORPHA:79168
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Broad long bone diaphyses, Metaphyseal irregularity, Flared iliac wing, ... OMIM:300106
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Cleft palate, Aplasia/Hypoplasia... ORPHA:3320
Gallbladder Disease 1
Elevated hepatic transaminase, Cholesterol gallstones, Cholelithiasis, Hepatic fibrosis, Jaundice... OMIM:600803
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Long philtrum, Preaxial hand polydactyly, Exencephaly, Broad thumb, Finger syndactyly, Broad hall... ORPHA:2211
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hallux phalanx,... ORPHA:93259
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Phocomelia, Talipes equinovarus, Sh... OMIM:274000
Baller-Gerold Syndrome
Narrow mouth, Lambdoidal craniosynostosis, Aphalangy of the hands, Rectovaginal fistula, Absent r... OMIM:218600
Lethal Omphalocele-Cleft Palate Syndrome
Unilateral cleft lip, Cleft palate, Bifid uvula, Cleft soft palate, Hydrocephalus ORPHA:2736
Isolated Biliary Atresia
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Elevated gamma-glutamyltransferase... ORPHA:30391
Frontometaphyseal Dysplasia
Limited wrist movement, Oligodontia, Craniosynostosis, Short metatarsal, Short phalanx of finger,... ORPHA:1826
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Large iliac wing, Hip subluxation, Flared iliac wing, Metatarsus adductus, High palate, Advanced ... OMIM:271640
Orofaciodigital Syndrome Type 2
Y-shaped metacarpals, Hypoplasia of teeth, Tongue nodules, Broad first metatarsal, Natal tooth, H... ORPHA:2751
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplastic pubic bones, Narrow palate, Split hand, Phocomelia, High palate, Elbow flexion contractu... OMIM:276820
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Absent tibia, Preaxial polydactyly, Hamartoma of tongue, Intestinal malrotat... OMIM:613091
Meckel Syndrome, Type 6
Postaxial hand polydactyly, Hand polydactyly, Anencephaly, Cleft upper lip, Cleft palate, Talipes... OMIM:612284
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Craniosynostosis, Tarsal synostosis, Camptodactyly, Carpal synostosis, Vertebr... OMIM:178110
Meckel Syndrome, Type 3
Postaxial hand polydactyly, Polydactyly, Cleft palate, Postaxial foot polydactyly, Hydrocephalus OMIM:607361
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Narrow palate, Narrow mouth, Synostosis of carpal bones, Finger syndacty... ORPHA:1323
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Cholelithiasis, Biliary hyperplasia,... ORPHA:567983
Biliary Atresia, Extrahepatic
Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary duct atresia,... OMIM:210500
Waardenburg Syndrome Type 3
Camptodactyly of finger, Abnormality of finger, Synostosis of carpal bones, Tented upper lip verm... ORPHA:896
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Postaxial oligodactyly, Carpal synostosis OMIM:609428
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Hepatomegaly, Jaundice, Porta... OMIM:602347
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short phalanx of finger, Elbow dislocation, Bilateral single transverse palmar creases, Short dis... OMIM:143095
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Adactyly, Narrow mouth, Upper limb phocomelia, Finger syndactyly, ... ORPHA:989
Mesomelia-Synostoses Syndrome
Short umbilical cord, Metacarpal synostosis, Mesomelia, Short foot, Partial fusion of proximal ro... OMIM:600383
Telangiectasia, Hereditary Hemorrhagic, Type 5
Portal hypertension, Elevated hepatic transaminase OMIM:615506
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Delayed ossification of carpal bones, Metaphyseal dysplasia, Anal atresia... OMIM:617425
Cardiospondylocarpofacial Syndrome
Long philtrum, Tarsal synostosis, Cone-shaped epiphysis, Abnormality of the dentition, Synostosis... OMIM:157800
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Short stature, Failure to thrive ORPHA:2089
Apert Syndrome
Delayed eruption of teeth, Humeroradial synostosis, Postaxial hand polydactyly, Narrow palate, Pr... OMIM:101200
Roberts Syndrome
Craniosynostosis, Bilateral single transverse palmar creases, Sandal gap, Wrist flexion contractu... ORPHA:3103
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Genu valgum, Postaxial hand polydactyly, Talipes equinovarus, Natal to... OMIM:225500
Phocomelia, Schinzel Type
Radial bowing, Hypoplasia of the radius, Abnormality of tibia morphology, Humeroradial synostosis... ORPHA:2879
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Short stature OMIM:618752
Budd-Chiari Syndrome
Cirrhosis, Elevated hepatic transaminase, Acute hepatic failure, Weight loss, Hepatomegaly, Jaund... ORPHA:131
Infantile Liver Failure Syndrome 3
Elevated hepatic transaminase, Hepatic steatosis, Hepatic bridging fibrosis, Acute hepatic failur... OMIM:618641
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Limited elbow extension, Talipes equinovarus, Failure of eruption of permanent... OMIM:272460
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Radioulnar synostosis, Synostosis of carpal ... ORPHA:2307
Autosomal Recessive Robinow Syndrome
Open bite, Broad thumb, Downturned corners of mouth, Elbow dislocation, Split hand, Broad hallux ... ORPHA:1507
Hand-Foot-Genital Syndrome
Short hallux, Postaxial hand polydactyly, Synostosis of carpal bones, Hallux varus, Short 1st met... ORPHA:2438
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated hepatic transaminase, Viral hepatitis, Hepatic steatosis, ... ORPHA:101330
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Growth delay, Hepatomegaly, Bile duct proliferation OMIM:613027
Mosaic Trisomy 9
Spina bifida, Patent ductus arteriosus, Abnormal liver lobulation, Asplenia, Intrauterine growth ... ORPHA:99776
Otofacioosseous-Gonadal Syndrome
Short hallux, Wormian bones, Genu valgum, Carpal synostosis, Talipes equinovarus OMIM:601976
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Flared iliac wing, Split hand, Carpal bone hypoplasia, Hypoplastic s... OMIM:252500
Pseudoaminopterin Syndrome
Clubbing of fingers, Short philtrum, Hip subluxation, Short 4th metacarpal, Overlapping toe, Syno... ORPHA:221120
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Hip subluxation, Short phalanx of finger, Broad metacarpals, Flared iliac w... OMIM:271665
Kyphomelic Dysplasia
Radial bowing, Short femur, Dumbbell-shaped humerus, Short humerus, Short metacarpal, Tibial bowi... OMIM:211350
Interstitial Lung And Liver Disease
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Decreased liver functi... OMIM:615486
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Abnormal dental enamel morphology, Synostosis of carpal bones, Finger syndactyly, Short middle ph... ORPHA:1005
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Thin vermilion border, Genu valgum, Cubitus valgus, Conical incisor, H... ORPHA:289
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Genu valgum, Metaphyseal irregularity, Delayed ossification of carpal bo... OMIM:271510
Codas Syndrome
Enamel hypoplasia, Delayed eruption of teeth, Genu valgum, Squared iliac bones, Congenital hip di... OMIM:600373
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, Mild postnatal growth r... ORPHA:456312
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs, Abnormal h... ORPHA:371428
Fanconi Anemia, Complementation Group U
Absent scaphoid OMIM:617247
Subaortic Stenosis-Short Stature Syndrome
Microdontia, Bilateral single transverse palmar creases, Synostosis of carpal bones ORPHA:3191
Humeroradial Synostosis With Craniofacial Anomalies
Humeroradial synostosis, Tarsal synostosis, Carpal synostosis OMIM:236410
Popliteal Pterygium Syndrome
Talipes equinovarus, Cleft palate, Cutaneous finger syndactyly, Fibrous syngnathia, Cleft upper l... OMIM:119500
Diaphanospondylodysostosis
Intrauterine growth retardation, Disproportionate short-trunk short stature, Abnormal liver lobul... OMIM:608022
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing, Submucous cleft... OMIM:312870
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia, Abnormality of pelvic girdle bone morphology, Carpal bone hypoplasia OMIM:601162
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Metaphyseal irregularity, Carpal bone hypoplasia, Irregular epiphyses, Narrow iliac wing, Flat ac... OMIM:610442
Luscan-Lumish Syndrome
Advanced ossification of carpal bones OMIM:616831
Sarcoidosis
Arrhythmia, Heart block, Abnormal cardiac ventricular function, Ventricular tachycardia, Hepatome... ORPHA:797
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Craniosynostosis, Tarsal synostosis, Radioulnar syno... OMIM:201750
Pmm2-Cdg
Pericarditis, Elevated hepatic transaminase, Angina pectoris, Intracranial hemorrhage, Hepatic fi... ORPHA:79318
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Abnormality of the knee, Abnormal hip joint morphology, Abno... ORPHA:51608
Brain Small Vessel Disease 3
Cerebral hemorrhage OMIM:618360

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 Colgalt1

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 Colgalt1.

No publications found that use IMPC mice or data for Colgalt1.

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MGI Allele Allele Type Produced
Colgalt1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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