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
Lacunar stroke 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
Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia... OMIM:186550
Radial Hemimelia
Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali... ORPHA:93321
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin... OMIM:600593
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, High palate... ORPHA:2632
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Multiple Synostoses Syndrome 3
Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,... OMIM:612961
Pierre Robin Sequence With Facial And Digital Anomalies
Easily subluxated first metacarpophalangeal joints, Clinodactyly of the 5th finger, Glossoptosis,... OMIM:311895
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Acropectorovertebral Dysplasia
High, narrow palate, Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of car... ORPHA:957
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Cu... ORPHA:968
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Pseudoachondroplasia
Short long bone, Increased laxity of ankles, Flat acetabular roof, Hypoplastic pelvis, Metaphysea... ORPHA:750
Ulnar Hemimelia
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... ORPHA:93351
Juberg-Hayward Syndrome
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Abnormality... OMIM:216100
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os... ORPHA:50809
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate, Finger aplasia OMIM:172880
Syndactyly, Type V
Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas... OMIM:186300
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Distal symphalangism... OMIM:606895
Acropectorovertebral Dysplasia
Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Radial deviation of th... OMIM:102510
Arthrogryposis, Distal, Type 1C
Rocker bottom foot, Thin vermilion border, Clinodactyly of the 5th finger, Shoulder flexion contr... OMIM:619110
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Flat acetabular roof, Epiphyseal dysplasia, Hypoplasia of the capital... OMIM:617719
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Arthropathy, Broad metacarpals, Osteolysis involving tars... OMIM:277950
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, Short hallux, Finger syndactyly, Metacarpal synostosis, 2-3 toe s... ORPHA:157801
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Glossoptosis, Abnormality of the ... ORPHA:3104
Mesomelic Limb Shortening And Bowing
Mesomelic arm shortening, Camptodactyly of finger, Mesomelic leg shortening, Cleft palate, Bowing... OMIM:249710
Otopalatodigital Syndrome, Type I
Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Lateral femor... OMIM:311300
Sprengel Deformity
Abnormality of the shoulder girdle musculature, Cleft palate, Shoulder muscle hypoplasia, Abnorma... ORPHA:3181
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones... OMIM:105835
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Ectrodactyly, Finger aplasia, Split foot, Cleft palate, Foot oli... OMIM:183600
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Metaphyseal cupping, Bowing of the long bones, Hypoplastic pelvis, Mi... ORPHA:85166
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Short stature, Failure to ... OMIM:614480
Tarsal-Carpal Coalition Syndrome
Short finger, Radial deviation of finger, Tarsal synostosis, Cubitus valgus, Distal symphalangism... OMIM:186570
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration OMIM:189800
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ... OMIM:228900
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hand polydactyly, Cleft palate, Limb duplication, Hip dislocation OMIM:223200
Proximal Symphalangism
Tarsal synostosis, Abnormality of the wrist, Clinodactyly of the 5th finger, Abnormal metacarpal ... ORPHA:3250
Pseudoachondroplasia
Short long bone, Short metacarpal, Metaphyseal irregularity, Short distal phalanx of finger, Genu... OMIM:177170
Glycogen Storage Disease Vi
Postnatal growth retardation, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:232700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di... OMIM:603546
Crigler-Najjar Syndrome, Type Ii
Jaundice, Elevated circulating hepatic transaminase concentration, Reduced tissue UDP-glucuronyl-... OMIM:606785
Split hand/foot malformation 1 (SHFM1)
2-3 toe syndactyly, Split hand, Split foot, Cutaneous finger syndactyly, Cleft palate, Toe syndac... DECIPHER:46
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Delayed ossification of carpal bones, Irregular acetabular roof, Metaphyseal dysplasia, Bowing of... OMIM:617974
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy... ORPHA:93383
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormality of the ankle, Cleft palate, Oligodontia ... ORPHA:2010
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Chondrodysplasia With Joint Dislocations, Gpapp Type
Limited elbow extension, Capitate-hamate fusion, Genu valgum, Irregular epiphyses of the metacarp... OMIM:614078
Brachydactyly Type B2
Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang... ORPHA:140908
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Thin vermilion border, Abnormal hip bone morphology, Abnormal met... ORPHA:2631
Brachydactyly, Type B2
Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o... OMIM:611377
Split-Foot Deformity With Mandibulofacial Dysostosis
Split foot, Toe syndactyly, Cleft palate, Split hand OMIM:183700
Otopalatodigital Syndrome Type 1
Abnormality of the tarsal bones, Proximal placement of thumb, Sandal gap, Abnormal metacarpal mor... ORPHA:90650
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Non-midline cleft of the upper lip, Ectopic anus, Spina bifida, Cleft palate, Aplasi... ORPHA:2476
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Small epiphyses, Short long bone, Glossoptosis, Pierre-Robin sequence, Cleft palate, Knee disloca... OMIM:620269
Mesomelia-Synostoses Syndrome
Abnormal femur morphology, Abnormal oral frenulum morphology, Mesomelia, Umbilical hernia, Long p... ORPHA:2496
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
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Genu valgum, Small epiphyses, Short long bone, High palate, Tooth agenes... OMIM:618363
Banki Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo... ORPHA:1228
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Contracture of the distal interphalangeal joint of the 5th finger, Recurrent patella... OMIM:216800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Multiple joint dislocation, Genu valgum, Hip subluxation, Flat capital femoral epiphysis, Metaphy... ORPHA:93360
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Talon cusp, Microdontia, Short metacarpal,... OMIM:605282
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Cleft Palate, Isolated
Anterior open-bite malocclusion, Gingival overgrowth, Cleft palate, Increased overbite OMIM:119540
Mesomelic Dysplasia, Kantaputra Type
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... ORPHA:1836
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Carpal bone hypoplasia, Genu valgum, Ivory epiphyses of the toes, Hip subluxation, Small epiphyse... OMIM:226980
Epiphyseal Dysplasia, Baumann Type
Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Hypoplasia of the femoral head,... OMIM:610797
Desbuquois Dysplasia 1
Sandal gap, Flat acetabular roof, Broad femoral neck, Bifid distal phalanx of the thumb, Long phi... OMIM:251450
Seckel Syndrome 7
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... OMIM:614851
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Gilbert Syndrome
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic failure OMIM:143500
Holzgreve Syndrome
Cleft upper lip, Hand polydactyly, Cleft palate OMIM:236110
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Solitary median maxillary central inc... OMIM:602418
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Preaxial foot polydactyly, ... OMIM:614120
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... OMIM:610017
Anencephaly 2
Cleft maxillary alveolar ridge, Anencephaly, Median cleft palate, Median cleft upper lip OMIM:619452
Parietal Foramina 1
Wormian bones, Cleft upper lip, Cleft palate, Encephalocele OMIM:168500
Spondylometaphyseal Dysplasia, Kozlowski Type
Narrow greater sciatic notch, Carpal bone hypoplasia, Cone-shaped epiphyses of the phalanges of t... OMIM:184252
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Patellar hypoplasia, Sandal gap, Flat capital femoral epiphysis, High palate, ... OMIM:147891
Eiken Syndrome
Eruption failure, Delayed ossification of carpal bones, Flat acetabular roof, Broad metatarsal, M... OMIM:600002
Odontochondrodysplasia 1
Irregular epiphyses, Small epiphyses, Cone-shaped epiphyses of the phalanges of the hand, Delayed... OMIM:184260
Acalvaria
Hydrocephalus, Postaxial hand polydactyly, Spina bifida, Cleft palate, Holoprosencephaly ORPHA:945
Meckel Syndrome, Type 5
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Cleft... OMIM:611561
Symphalangism, Proximal, 1A
Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Carpal synosto... OMIM:185800
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Abnormal morphology of ulna, Cleft palate, Aplasia/Hypopla... ORPHA:971
Multiple Osteochondromas
Intestinal obstruction, Cervical myelopathy, Abnormal femur morphology, Limitation of knee mobili... ORPHA:321
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Deep palmar crease OMIM:600251
Diarrhea 13
Hepatic steatosis, Failure to thrive, Elevated circulating hepatic transaminase concentration OMIM:620357
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow greater sciatic notch, Encephalocele, Hydrocephalus, Short long bone, Bowing of the long b... OMIM:224400
Limb-Mammary Syndrome
Split hand, Camptodactyly, Split foot, Bifid uvula, Cleft palate, Syndactyly, Hypodontia, Hallux ... OMIM:603543
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Synostoses, Tarsal, Carpal, And Digital
Tarsal synostosis, Short metacarpal, Radial head subluxation, Metacarpophalangeal synostosis, Apl... OMIM:186400
Desbuquois Dysplasia 2
Dental crowding, Short long bone, Flat acetabular roof, Knee dislocation, Short metacarpal, Broad... OMIM:615777
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia... ORPHA:79301
Schisis Association
Anencephaly, Encephalocele, Anal atresia, Spina bifida, Tracheoesophageal fistula, Micromelia, Cl... ORPHA:63862
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Periportal fib... OMIM:619484
Ophthalmomandibulomelic Dysplasia
Ulnar deviated club hands, Synostosis of carpal bones, Micromelia, Camptodactyly of finger, Mesom... ORPHA:2741
49,Xyyyy Syndrome
Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Bridged palmar cre... ORPHA:99330
Schneckenbecken Dysplasia
Metaphyseal irregularity, Stillbirth, Snail-like ilia, Short long bone, Flat acetabular roof, Dum... OMIM:269250
Ivic Syndrome
Limited elbow movement, Intestinal malrotation, Absent thumb, Hypoplasia of the ulna, Hypoplasia ... OMIM:147750
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Dislocated radial head, Sho... OMIM:186500
Van Der Woude Syndrome 1
Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit OMIM:119300
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Broad femoral neck, Abnormal forearm bone morphology, Contracture of the proxim... ORPHA:93307
Baller-Gerold Syndrome
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... ORPHA:1225
Hartsfield Syndrome
Encephalocele, Non-midline cleft of the upper lip, Split hand, Lobar holoprosencephaly, Cleft pal... ORPHA:2117
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Metacarpal osteolysis, Carpal osteolysis, Ulnar deviation of the ... OMIM:166300
Trochlea Of The Humerus, Aplasia Of
Cleft palate, Short humerus OMIM:191000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Dyggve-Melchior-Clausen Disease
Limited elbow extension, Genu valgum, Rhizomelia, Abnormal hip bone morphology, Glenoid fossa hyp... ORPHA:239
Anauxetic Dysplasia 1
Limited elbow extension, Short finger, Rhizomelia, Small epiphyses, Flared metaphysis, Delayed os... OMIM:607095
Larsen Syndrome
Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Broad thumb, Short d... ORPHA:503
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Multiple joint dislocation, Carpal bone hypoplasia, Dislocated radial hea... OMIM:618395
Diprosopus
Non-midline cleft of the upper lip, Cleft palate, Anencephaly ORPHA:1681
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft palate, Neural tube defect, Bilateral cleft lip OMIM:600776
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Wrist swelling, Metacarpal osteolysis, Abnormality of the wrist, Carpal osteolysis, Slender long ... ORPHA:2774
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Carpal bone hypoplasia, Thick lower lip vermilion, Cubitus valgus, Tapered phalanx of finger, Sma... OMIM:611717
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Tongue nodules, High palate, Foot polydactyly, Postaxial polydactyly, ... OMIM:258860
Orofaciodigital Syndrome Ii
Syndactyly, Metaphyseal irregularity, Accessory oral frenulum, Tongue nodules, Hydrocephalus, Pos... OMIM:252100
Frontometaphyseal Dysplasia 1
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... OMIM:305620
Cholestasis, Intrahepatic, Of Pregnancy, 1
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Abno... OMIM:147480
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Diaphanospondylodysostosis
Abnormal vertebral segmentation and fusion, Cleft palate, Narrow pelvis bone, Myelomeningocele ORPHA:66637
Meckel Syndrome, Type 2
Polydactyly, Anencephaly, Encephalocele, Meningocele, Postaxial hand polydactyly, Bowing of the l... OMIM:603194
Microphthalmia With Limb Anomalies
Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Hip dislocation, Fibular hypoplasia, 2-3 to... OMIM:206920
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Abnormal hip bone morphology, Short long bone, Short metacarpal, Prominent ca... ORPHA:457395
Hemifacial Microsomia With Radial Defects
Short mandibular rami, Orofacial cleft, Triphalangeal thumb, Non-midline cleft of the upper lip, ... OMIM:141400
Qazi-Markouizos Syndrome
High, narrow palate, Delayed ossification of carpal bones, Hypoplasia of teeth, Open mouth, Broad... ORPHA:3010
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Flat acetabular roof, Flared iliac ... ORPHA:93314
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Abnormality of the pancreas ORPHA:3032
Enlarged Parietal Foramina
Occipital encephalocele, Short clavicles, Myelomeningocele, Broad thumb, Cleft palate, Craniosyno... ORPHA:60015
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Elevated circulating... ORPHA:64743
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Cubitus valgus, Metaphyseal striations, Slender long bones with narrow diaphyses, Sh... OMIM:608154
Joubert Syndrome 18
Occipital encephalocele, Bowing of the long bones, Camptodactyly, Postaxial polydactyly, Cleft pa... OMIM:614815
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Intestinal malrotation, Flexion contracture of the 2nd... ORPHA:2712
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-... ORPHA:199306
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Synostosis of carpal bones, Short palm, Failure of erupti... ORPHA:3238
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft upper lip, Cleft palate OMIM:179400
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morphology, Aplasia/Hypoplasia o... ORPHA:1307
Chondrodysplasia, Blomstrand Type
Stillbirth, Flared metaphysis, Micromelia, Advanced tarsal ossification, Squared iliac bones, Adv... OMIM:215045
Larsen Syndrome
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Spina bifida occulta, T... OMIM:150250
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Atelosteogenesis, Type Iii
Widened distal phalanges, Tombstone-shaped proximal phalanges, Rhizomelia, Sandal gap, Hitchhiker... OMIM:108721
Anophthalmia Plus Syndrome
Tessier cleft, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bifida, Deviatio... ORPHA:1104
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin metacarpal cortices, Wrist flexion contracture, Broad metatarsal, Sclerotic cranial sutures,... OMIM:259600
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal... ORPHA:319675
Steel Syndrome
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Coxa vara, Carpa... OMIM:615155
Congenital Bile Acid Synthesis Defect Type 2
Postnatal growth retardation, Jaundice, Elevated circulating hepatic transaminase concentration, ... ORPHA:79303
Meckel Syndrome, Type 3
Polydactyly, Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Po... OMIM:607361
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Metaphyseal cupping, Narrow iliac wing, Short long bone, Fla... OMIM:250420
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Small epiphyses, Flared metaphysis, Hypoplastic pubic bone, Delayed ossification of carpal bones,... ORPHA:93346
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent... ORPHA:65682
Microphthalmia With Limb Anomalies
Bilateral single transverse palmar creases, Sandal gap, Abnormality of the upper limb, Tibial bow... ORPHA:1106
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft upper lip, Cleft palate, Atrophic gastritis, Stomach cancer OMIM:137215
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing OMIM:156232
Pfeiffer Syndrome
Clinodactyly of the 5th finger, Short philtrum, Finger syndactyly, High palate, Synostosis of car... ORPHA:710
Meckel Syndrome, Type 10
Occipital encephalocele, Anencephaly, Postaxial hand polydactyly, Camptodactyly, Postaxial polyda... OMIM:614175
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating alkaline phosph... OMIM:613812
Muenke Syndrome
High, narrow palate, Tarsal synostosis, Hydrocephalus, Short foot, Coronal craniosynostosis, Shor... ORPHA:53271
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:214950
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/... ORPHA:988
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Carpal bone hypoplasia, Flared femoral metaphysis, Genu valgum, ... OMIM:184253
Otopalatodigital Syndrome Type 2
Glossoptosis, Myelomeningocele, Flared iliac wing, Anodontia, Fibular aplasia, Tarsal synostosis,... ORPHA:90652
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Femoral bowing, Glossoptosis, Dumbbell-shaped long bone, Micromelia, Cleft palate, Me... ORPHA:440354
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Hydranencephaly, Hydrocephalus, Thi... ORPHA:2839
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Absent phalangeal crease, Antecubital pterygium, Cle... OMIM:618469
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:607765
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Hydranencephaly OMIM:601355
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, Mesomelic arm shortening, Proximal placement of thumb, Short metacarp... OMIM:268305
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Abnormal metacarpal morpho... ORPHA:3258
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Delayed cranial suture closure, Broad thumb, Long philtrum, Bro... ORPHA:2211
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Short philtrum, Hydrocephalus, Delayed ossification of carpal bones, Abnor... OMIM:239300
Trisomy 8Q
Orofacial cleft, Deep palmar crease, Non-midline cleft of the upper lip, High palate, Everted low... ORPHA:1752
Aminopterin/Methotrexate Embryofetopathy
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Non-midline cleft of the upper lip, Aplas... ORPHA:1908
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Atelosteogenesis Type Ii
Sandal gap, Bilateral cleft palate, Short metacarpal, Short lower limbs, Dumbbell-shaped femur, L... ORPHA:56304
Ruvalcaba Syndrome
Thin vermilion border, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal vert... ORPHA:3121
Cleidocranial Dysplasia 2
Supernumerary tooth, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossif... OMIM:620099
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:617068
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip... ORPHA:888
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,... OMIM:616278
Robinow Syndrome, Autosomal Dominant 2
Partial duplication of the phalanx of hand, Triangular mouth, Cleft soft palate, Dental crowding,... OMIM:616331
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Gallbladder Disease 1
Jaundice, Elevated circulating hepatic transaminase concentration, Cholangitis, Cholelithiasis, P... OMIM:600803
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Abnormal ilium morphology, Abnormal metacarpal morphology, Acromeso... ORPHA:168549
Verloove Vanhorick-Brubakk Syndrome
Abnormal femur morphology, Tarsal synostosis, Abnormal metacarpal morphology, Finger syndactyly, ... ORPHA:3429
Aase-Smith Syndrome I
Hydrocephalus, Slender finger, Cleft palate, Open mouth, Talipes equinovarus OMIM:147800
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Osteolytic defects of the phalanges of the hand, Hydrocephalus, Prem... OMIM:102500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Talipes equinovarus, Flared metaphysis, Dysplasia of the femoral head, Long upper lip, Bowing of ... OMIM:615349
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, Me... OMIM:260660
Meckel Syndrome, Type 4
Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Postaxial hand polydactyly, Bowing of the... OMIM:611134
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Cholangitis, S... ORPHA:69663
Orofaciodigital Syndrome X
Fibular aplasia, Finger aplasia, Cleft palate, Preaxial hand polydactyly, Coalescence of tarsal b... OMIM:165590
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Short long bone, Split hand, Irregular carpal bones, Shallow acetabular f... OMIM:252600
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Short metacarpa... OMIM:616723
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Cleft palate, Ankyloglossia OMIM:303400
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ... ORPHA:3320
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia... OMIM:274000
Frontometaphyseal Dysplasia
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... ORPHA:1826
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Deviation of the thumb, Short hallux, Hydrocephalus, Finger syndactyly, High... ORPHA:93259
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Abnormal oral frenulum morphology, Tongue nod... ORPHA:2751
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Scapular winging, Cutaneous finger syndactyly, Camptodactyly of finger, Br... OMIM:148820
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large iliac wing, Short ... OMIM:271640
Orofaciodigital Syndrome Vi
Radial deviation of finger, Tibial bowing, Accessory oral frenulum, Tongue nodules, Clinodactyly,... OMIM:277170
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr... OMIM:602347
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short metacarpal, Short phalanx of finger, Brachydactyly, Advanced ossification... OMIM:614613
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr... ORPHA:30391
Biliary Atresia, Extrahepatic
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta... OMIM:210500
Acrocallosal Syndrome
Everted upper lip vermilion, Abnormal oral frenulum morphology, Bifid uvula, Wide mouth, Bifid di... OMIM:200990
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short long bone... OMIM:613091
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Bilateral single transverse palmar creases, Multiple carpal ossification centers, Dislocated radi... OMIM:143095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Atelosteogenesis, Type I
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel... OMIM:108720
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Finger syndactyly, Adactyly, High palate, Narrow mouth, Anal atres... ORPHA:989
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:615506
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Portal inflammation, Hepatocellular carcinoma, Elevated circulating alanine aminotr... OMIM:603471
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Short l... OMIM:300106
Tukel Syndrome
Postaxial oligodactyly, Carpal synostosis, Syndactyly, Carpal bone aplasia OMIM:609428
Waardenburg Syndrome Type 3
Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal bones, Camptodact... ORPHA:896
Apert Syndrome
Limited elbow movement, Broad thumb, Bifid uvula, Syndactyly, Craniosynostosis, Narrow palate, Hy... OMIM:101200
Van Den Ende-Gupta Syndrome
Dislocated radial head, Dental crowding, Femoral bowing, Everted lower lip vermilion, Arachnodact... OMIM:600920
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole... ORPHA:567983
Craniorachischisis
Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Anal atresia, Spinal dysraphism, Cervi... ORPHA:63260
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Narrow greater sciatic notch, Dislocated radial head, Single transverse palmar crease, Delayed os... OMIM:617425
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Bifid uvula, Unilateral cleft lip, Cleft palate ORPHA:2736
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Porta... ORPHA:131
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Narrow palate, Abnormal hip bone morphology, Finger syndactyly, Narrow mouth, Synostosis of carpa... ORPHA:1323
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Clinodactyly of the 5th finger, Talipes equinovarus, ... OMIM:272460
Phocomelia, Schinzel Type
Hypoplasia of the radius, High, narrow palate, Fibular aplasia, Abnormal tibia morphology, Aplasi... ORPHA:2879
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Small epiphyses... OMIM:271510
Pentalogy Of Cantrell
Orofacial cleft, Abnormal tibia morphology, Anencephaly, Encephalocele, Hydrocephalus, Non-midlin... ORPHA:1335
Roberts Syndrome
Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,... ORPHA:3103
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Broad thumb... ORPHA:1507
Mesomelia-Synostoses Syndrome
Short umbilical cord, Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal... OMIM:600383
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Camptodacty... OMIM:178110
Meckel Syndrome, Type 6
Occipital encephalocele, Anencephaly, Talipes equinovarus, Hydrocephalus, Postaxial hand polydact... OMIM:612284
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... ORPHA:2438
Baller-Gerold Syndrome
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Bifid uvula, Absent thumb, Short humer... OMIM:218600
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Flared iliac wing, Wide mouth, Bullet-shaped phalanges of ... OMIM:252500
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Elevated circulating hepatic transaminase concentration, Periportal... ORPHA:101330
Kyphomelic Dysplasia
Ulnar bowing, Pterygium, Bowed humerus, Flared metaphysis, Dumbbell-shaped humerus, Femoral bowin... OMIM:211350
Ivic Syndrome
Hypoplasia of the radius, Triphalangeal thumb, Rectovaginal fistula, Synostosis of carpal bones, ... ORPHA:2307
Constricting Bands, Congenital
Tessier cleft, Encephalocele, Cleft upper lip, Hand polydactyly, Cleft palate, Syndactyly, Talipe... OMIM:217100
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Microvesicular hepa... OMIM:617156
Mosaic Trisomy 9
Abnormal liver lobulation, Asplenia, Spina bifida, Patent ductus arteriosus, Intrauterine growth ... ORPHA:99776
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Pterygium, Osteolysis involving bones of the lower limbs, Osteolysis involving... ORPHA:371428
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Triangular shaped distal phalanges of the hand, Short long bone, Short metacarpal, Flared iliac w... OMIM:271665
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Delayed puberty, Abnormal liver parenchyma morphology, Hyperechogenic pancreas, Aplasia/Hypoplasi... ORPHA:456312
Codas Syndrome
Genu valgum, Proximal placement of thumb, Rectovaginal fistula, Delayed eruption of teeth, Delaye... OMIM:600373
Pseudoaminopterin Syndrome
Talipes valgus, Orofacial cleft, Clinodactyly of the 5th toe, Limited elbow movement, Short 4th m... ORPHA:221120
Fanconi Anemia, Complementation Group U
Hypoplasia of the radius, Absent scaphoid, Aplasia of the 1st metacarpal, Absent thumb, Absent ra... OMIM:617247
Popliteal Pterygium Syndrome
Popliteal pterygium, Spina bifida occulta, Cleft upper lip, Cutaneous finger syndactyly, Bifid uv... OMIM:119500
Ellis Van Creveld Syndrome
Thin vermilion border, Genu valgum, Cubitus valgus, Delayed eruption of teeth, Conical incisor, A... ORPHA:289
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... OMIM:208085
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Carpal bone hypoplasia, Thick lower lip vermilion, Irregular epiphyses, Small epiphyses, Metaphys... OMIM:610442
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Hydrocephalus, Hydranencephaly, Retinal hemorrhage, Tricuspid regurgi... OMIM:620371
Diaphanospondylodysostosis
Intrauterine growth retardation, Abnormal liver lobulation, Disproportionate short-trunk short st... OMIM:608022
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Thin vermilion border, Metaphyseal chondromatosis of femur, Metaphyseal chondromatosis of tibia, ... ORPHA:99646
Spastic Paraplegia 9A, Autosomal Dominant
Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology, Hiatus hernia OMIM:601162
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short greater sciatic notch, Meckel diverticulum, Flared iliac wing... OMIM:312870
Sacral Defect With Anterior Meningocele
Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele, B... OMIM:600145
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Biliary hyperplasia, Splenomegaly, Umbil... OMIM:619991
Luscan-Lumish Syndrome
Advanced ossification of carpal bones OMIM:616831
Sarcoidosis
Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Heart block, Abnorm... ORPHA:797
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Short foot, Fusion of middle ear ossicles, Pseudoepi... OMIM:157800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Rocker bottom foot, Tarsal synostosis, Ulnar bowing, Femoral bowing, Camptodactyly, Humeroradial ... OMIM:201750
Pmm2-Cdg
Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, An... ORPHA:79318
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Fused cervical vertebrae, Abnormal calcification of the carp... ORPHA:51608
Brain Small Vessel Disease 3
Lacunar stroke 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) ES Cells

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