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Gene: Colgalt1 MGI:1924348

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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

Order Alleles

IMPC Data Collections

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

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.

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
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Craniosynostosis, Adelaide Type
Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Hallux valgus, Co... OMIM:600593
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Broad middle phalanx of finger, Cone-shaped epiphysis, Short 1st... OMIM:182255
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Pierre Robin Sequence With Facial And Digital Anomalies
Short distal phalanx of finger, Easily subluxated first metacarpophalangeal joints, Tapered finge... OMIM:311895
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Acropectorovertebral Dysplasia
High, narrow palate, Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Fin... ORPHA:957
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, E... ORPHA:968
Glycine N-Methyltransferase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:606664
Pseudoachondroplasia
Delayed epiphyseal ossification, Genu valgum, Wind-swept deformity of the knees, Shortening of al... ORPHA:750
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Abnormal joint morphology,... ORPHA:93351
Juberg-Hayward Syndrome
Anteriorly placed anus, Cleft upper lip, Limited elbow extension, Aplasia/Hypoplasia of the thumb... OMIM:216100
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Short 4th metaca... ORPHA:50809
Pierre Robin Syndrome And Oligodactyly
Finger aplasia, Cleft palate, Pierre-Robin sequence OMIM:172880
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Cone-shaped epiphyses of the middle phalanges of the hand, Short distal phalanx of finger, Distal... OMIM:606895
Acropectorovertebral Dysplasia
Toe syndactyly, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpal bones, Short ... OMIM:102510
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Shoulder flexion contracture, Pursed lips, Camptodactyly of finger, Elbow... OMIM:619110
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Broad met... OMIM:277950
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormality of the dentition, Abnormal morphology of ulna, Abnormal metacarpal mo... ORPHA:3104
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Mesomelic arm shortening, C... OMIM:249710
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Short hallux, Dislocated radial head, H... OMIM:311300
Sprengel Deformity
Abnormal shoulder morphology, Abnormality of the shoulder girdle musculature, Cleft palate, Shoul... ORPHA:3181
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Delayed ossific... OMIM:105835
Split-Hand/Foot Malformation 1
Finger aplasia, Clinodactyly, Broad hallux, Ectrodactyly, Foot oligodactyly, Split foot, Triphala... OMIM:183600
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... ORPHA:85166
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Tarsal-Carpal Coalition Syndrome
Distal symphalangism of hands, Radial deviation of finger, Short 1st metacarpal, Short finger, Pr... OMIM:186570
Preeclampsia/Eclampsia 1
Intrauterine growth retardation, Elevated circulating hepatic transaminase concentration OMIM:189800
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Fibular aplasia, Malaligned carpal bone, ... 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
Limb duplication, Cleft upper lip, Hand polydactyly, Hip dislocation, Cleft palate OMIM:223200
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Pseudoachondroplasia
Delayed epiphyseal ossification, Radial metaphyseal irregularity, Genu valgum, Fragmented epiphys... OMIM:177170
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... OMIM:232700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Crigler-Najjar Syndrome, Type Ii
Reduced tissue UDP-glucuronyl-transferase activity, Jaundice, Elevated circulating hepatic transa... OMIM:606785
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, Median cleft upper lip, 2-3 toe syndactyly, Split ha... DECIPHER:46
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Metaphyseal dysplasia, Genu varum, Delayed ossification of carpal bone... OMIM:617974
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the ankle, Oligodontia of primary teeth, Carpal synostosis, Abnormality of the wri... ORPHA:2010
Congenital Laryngomalacia
Non-midline cleft of the upper lip, Cleft palate ORPHA:2373
Chondrodysplasia With Joint Dislocations, Gpapp Type
Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Narro... OMIM:614078
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:2631
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split foot, Split hand, Cleft palate OMIM:183700
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Aplasia/Hypoplasia of the radius, Ectopic anus, Spina bifida, Anencephaly, Non-midline cleft of t... ORPHA:2476
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Elbow dislocation, Knee dislocation, Small epiphyses, Coxa valga, Adducted thumb, Short long bone... OMIM:620269
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia... ORPHA:2496
Orofacial Cleft 1
Cleft palate, Cleft upper lip OMIM:119530
Orofacial Cleft 5
Cleft palate, Cleft upper lip OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft palate, Cleft upper lip OMIM:608864
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Advanced ossification of carpal bones, Tooth agenesis, Knee dislocation, Small epi... OMIM:618363
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Coloboma Of Macula And Skeletal Anomalies
Genu valgum, Hallux valgus, Recurrent patellar dislocation, Cleft palate, Coxa valga, Contracture... OMIM:216800
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Slender finger, Multiple joint dislocation... ORPHA:93360
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synostosis, Deep philtrum, Bra... OMIM:605282
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Hip subluxation, Ivory e... OMIM:226980
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Fl... OMIM:251450
Seckel Syndrome 7
Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Short middle phalanx of the 5t... OMIM:614851
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Gilbert Syndrome
Jaundice, Hepatic failure, Elevated circulating hepatic transaminase concentration OMIM:143500
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Joubert Syndrome 15
Exencephaly, Preaxial polydactyly OMIM:614464
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Cleft upper lip, Proximal radial head dislocation, Solitary median ... OMIM:602418
Hydrolethalus Syndrome 2
Postaxial foot polydactyly, Preaxial foot polydactyly, Hydrocephalus, Postaxial hand polydactyly,... OMIM:614120
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... OMIM:609616
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Talipes equinovarus, Finger symphalangism, Brachydact... OMIM:610017
Anencephaly 2
Median cleft upper lip, Cleft maxillary alveolar ridge, Median cleft palate, Anencephaly OMIM:619452
Parietal Foramina 1
Wormian bones, Cleft palate, Encephalocele, Cleft upper lip OMIM:168500
Spondylometaphyseal Dysplasia, Kozlowski Type
Dumbbell-shaped femur, Flared metaphysis, Irregular acetabular roof, Delayed ossification of carp... OMIM:184252
Distal Symphalangism
Synostosis of carpal bones, Symphalangism affecting the phalanges of the hand, Camptodactyly of f... ORPHA:3248
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Tarsal synostosis, Patellar... OMIM:147891
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Multiple unerupted teeth,... OMIM:600002
Odontochondrodysplasia 1
Mesomelia, Dentinogenesis imperfecta, Genu recurvatum, Metaphyseal cupping, Delayed eruption of t... OMIM:184260
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, P... OMIM:611561
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Holoprosencephaly, Cleft palate ORPHA:945
Symphalangism, Proximal, 1A
Distal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal syn... OMIM:185800
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Hydrocephalus, Cleft palate OMIM:258320
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal morphology of ulna, Split h... ORPHA:971
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Intestinal obstruction, Bowing ... ORPHA:321
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Deep palmar crease, Cleft palate, Cleft upper lip OMIM:600251
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive OMIM:620357
Crigler-Najjar Syndrome, Type I
Jaundice, Elevated circulating hepatic transaminase concentration OMIM:218800
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Short femoral neck, Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the ... ORPHA:1856
Limb-Mammary Syndrome
Bifid uvula, Joint contracture of the hand, Hypodontia, Hallux valgus, Split hand, Camptodactyly,... OMIM:603543
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Joint contracture of the hand, Micromelia, Broad long bones, Encephalocele, Bowing of the long bo... OMIM:224400
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Synostoses, Tarsal, Carpal, And Digital
Aplasia/Hypoplasia of the middle phalanges of the hand, Carpal synostosis, Radial head subluxatio... OMIM:186400
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Radial head subluxation, Advanced ossification of carpal bones... OMIM:615777
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Schisis Association
Unilateral cleft lip, Micromelia, Encephalocele, Tracheoesophageal fistula, Spina bifida, Anal at... ORPHA:63862
Cholestasis, Progressive Familial Intrahepatic, 6
Intrahepatic cholestasis, Periportal fibrosis, Elevated circulating hepatic transaminase concentr... OMIM:619484
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
49,Xyyyy Syndrome
Short 5th finger, Finger clinodactyly, Bridged palmar crease, Radioulnar synostosis, Cubitus valg... ORPHA:99330
Schneckenbecken Dysplasia
Hypoplastic scapulae, Advanced ossification of carpal bones, Umbilical hernia, Advanced tarsal os... OMIM:269250
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Carpal bone hypoplasia, ... OMIM:147750
Multiple Synostoses Syndrome 1
Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndactyly, Lower limb undergrowth... OMIM:186500
Multiple Epiphyseal Dysplasia Type 4
Radial bowing, Premature osteoarthritis, Abnormal hand morphology, Genu valgum, Dislocation of th... ORPHA:93307
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Narrow mouth, Aplasia/H... ORPHA:1225
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Non-midline cleft of the upper lip, Encephalocele, Split hand, ... ORPHA:2117
Multicentric Carpotarsal Osteolysis Syndrome
Ankle swelling, Wrist swelling, Carpal osteolysis, Metacarpal osteolysis, Bilateral elbow disloca... OMIM:166300
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplastic ilia, Rhizomelia, Hypoplastic acetabulae, Broad femoral neck, A... ORPHA:239
Anauxetic Dysplasia 1
Hypoplastic ilia, Rhizomelia, Short toe, Flared metaphysis, Short finger, Elbow flexion contractu... OMIM:607095
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplasia, Hypopla... OMIM:618395
Diprosopus
Anencephaly, Non-midline cleft of the upper lip, Cleft palate ORPHA:1681
Fryns Microphthalmia Syndrome
Tessier cleft, Bilateral cleft lip, Neural tube defect, Bilateral cleft palate OMIM:600776
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Abnormal epiphysis morphology, Wrist swelling, Slender long bone, Downturned corners of mouth, Me... ORPHA:2774
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Delayed epiphyseal ossification, Short toe, Long philtrum, Thick lower lip vermilion, Thick upper... OMIM:611717
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Hamartoma of tongue, Accessory oral fren... OMIM:258860
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, High palate, Accessory oral frenulum, Syndactyly, Preaxial hand polyd... OMIM:252100
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Cholestasis, Intrahepatic, Of Pregnancy, 1
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Elevated circ... OMIM:147480
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Diaphanospondylodysostosis
Myelomeningocele, Narrow pelvis bone, Cleft palate, Abnormal vertebral segmentation and fusion ORPHA:66637
Meckel Syndrome, Type 2
Intestinal malrotation, Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand poly... OMIM:603194
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, High palate, 2-5 toe syndactyly,... OMIM:206920
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Abnormality of the knee, Tibial metaphyseal... ORPHA:457395
Hemifacial Microsomia With Radial Defects
Orofacial cleft, Triphalangeal thumb, Short mandibular rami, Non-midline cleft of the upper lip, ... OMIM:141400
Qazi-Markouizos Syndrome
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth, Delayed ossification of car... ORPHA:3010
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Radial bowing, Premature osteoarthrit... ORPHA:93314
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormality of the pancreas, Abnormal biliary tract morphology ORPHA:3032
Enlarged Parietal Foramina
Cleft lip, Occipital encephalocele, Broad thumb, Myelomeningocele, Short clavicles, Craniosynosto... ORPHA:60015
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... ORPHA:64743
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Genu valgum, Cubitus valgus, Metaphyseal striations, Sle... OMIM:608154
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Talipes equinovarus, Postaxial... OMIM:614815
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Submucous cleft hard palate, Oligodontia, ... ORPHA:2712
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i... ORPHA:199306
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth, Synostosis of car... ORPHA:3238
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft palate, Cleft upper lip, Absent radius OMIM:179400
Distal Limb Deficiencies-Micrognathia Syndrome
Microglossia, Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Oligodactyly, Abnormali... ORPHA:1307
Chondrodysplasia, Blomstrand Type
Micromelia, Flared metaphysis, Advanced tarsal ossification, Stillbirth, Squared iliac bones, Adv... OMIM:215045
Larsen Syndrome
Elbow dislocation, Cleft upper lip, Knee dislocation, Accessory carpal bones, Multiple carpal oss... OMIM:150250
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Elbow dislocation, Radial bowing, Knee dislocati... OMIM:108721
Anophthalmia Plus Syndrome
Tessier cleft, Deviation of finger, Bilateral cleft palate, Spina bifida, Non-midline cleft of th... ORPHA:1104
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,... OMIM:259600
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d... OMIM:142900
Microcephalic Primordial Dwarfism, Dauber Type
Madelung deformity, Limb undergrowth, Hip dysplasia, Clinodactyly of the 5th finger, Short middle... ORPHA:319675
Steel Syndrome
Carpal synostosis, Limited elbow extension, Coxa vara, Clinodactyly of the 5th finger, Dislocated... OMIM:615155
Meckel Syndrome, Type 3
Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, Hydrocephalus, Postaxial hand p... OMIM:607361
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Genu valgum, Carpal bone hypoplas... OMIM:250420
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Carious teeth, Flared metaphysis, Small ep... ORPHA:93346
Benign Recurrent Intrahepatic Cholestasis
Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio... ORPHA:65682
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Synostosis o... ORPHA:1106
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate, Cleft upper lip OMIM:137215
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis OMIM:156232
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Open mouth, Brachydactyly, High palat... ORPHA:710
Meckel Syndrome, Type 10
Bifid uvula, Postaxial foot polydactyly, Occipital encephalocele, Postaxial polydactyly, Ulnar de... OMIM:614175
Bile Acid Synthesis Defect, Congenital, 4
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:214950
Muenke Syndrome
High, narrow palate, Coronal craniosynostosis, Cone-shaped epiphysis, Carpal synostosis, Hydrocep... ORPHA:53271
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... OMIM:613812
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Narrow mouth, ... ORPHA:90652
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Cleft palate, Submucous cleft hard palate, Camptodactyly of finger ORPHA:2521
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Rhizomelia, Micromelia, Femoral bowing, Dumbbell-shaped long bone, Brachyda... ORPHA:440354
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Camptodactyly of finger,... ORPHA:2839
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Talipes equinovarus, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Absent p... OMIM:618469
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Hydranencephaly, Cleft palate OMIM:601355
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Narrow mouth, Talipes equinovarus, Short hallux, Small thenar eminence, High palate,... OMIM:268305
Cenani-Lenz Syndrome
High, narrow palate, Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow disl... ORPHA:3258
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Long philtrum, Delayed cranial suture closure, Preaxial hand poly... ORPHA:2211
Trisomy 8Q
Camptodactyly of finger, Myelomeningocele, Abnormal oral frenulum morphology, Orofacial cleft, De... ORPHA:1752
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Short distal phalanx of finger, Downturned corners of mouth, Cleft upper lip, Anteriorly placed a... OMIM:239300
Aminopterin/Methotrexate Embryofetopathy
Mesomelia, Spinal dysraphism, Finger syndactyly, Micromelia, Encephalocele, Aplasia/Hypoplasia of... ORPHA:1908
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplastic iliac wing, Genu valgum, Multicentric ossification of proximal ... OMIM:223800
Atelosteogenesis Type Ii
Elbow dislocation, Genu valgum, Bilateral cleft palate, Broad phalanx, Bilateral talipes equinova... ORPHA:56304
Ruvalcaba Syndrome
Small hand, Cone-shaped epiphysis, Dental crowding, Synostosis of carpal bones, Micromelia, Abnor... ORPHA:3121
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Genu valgum, Delayed pubic bone o... OMIM:620099
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:617068
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Robinow Syndrome, Autosomal Dominant 2
Mesomelia, Abnormality of the dentition, Short distal phalanx of finger, Broad thumb, Dental malo... OMIM:616331
Hand-Foot-Genital Syndrome
Short 5th finger, Shortening of all middle phalanges of the fingers, Short 1st metacarpal, Ulnar ... OMIM:140000
Gallbladder Disease 1
Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal... OMIM:600803
Axial Spondylometaphyseal Dysplasia
Flattened femoral head, Abnormal ilium morphology, Upper limb undergrowth, Hypoplastic iliac wing... ORPHA:168549
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Aase-Smith Syndrome I
Slender finger, Open mouth, Talipes equinovarus, Hydrocephalus, Cleft palate OMIM:147800
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Hypoplastic ilia, Flared metaphysis, Carpal synostosis, Dysplasia of the fe... OMIM:615349
Hajdu-Cheney Syndrome
Foot acroosteolysis, Dental malocclusion, Long philtrum, Umbilical hernia, Intestinal malrotation... OMIM:102500
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Postaxial hand polydactyly, Meningocele, ... OMIM:611134
Orofaciodigital Syndrome X
Finger aplasia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Cleft pa... OMIM:165590
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Irregular carpal bones, Carpal bone hypoplasia, Soft tissue swelling o... OMIM:252600
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Proximal femoral epiphysiolysis, Short fourth metatarsal, Overlapping toe, Small epiphyses, Tente... OMIM:616723
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Aplasia/hypoplasi... ORPHA:3320
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Limited elbow move... ORPHA:1826
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Intestinal ma... ORPHA:93259
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Broad first metatarsal... ORPHA:2751
Waardenburg Syndrome, Type 3
Joint contracture of the hand, Clinodactyly, Carpal synostosis, Camptodactyly of finger, Cutaneou... OMIM:148820
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Hypopla... OMIM:271640
Orofaciodigital Syndrome Vi
Toe syndactyly, Clinodactyly, Fibular aplasia, High palate, Accessory oral frenulum, Preaxial han... OMIM:277170
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Brachydactyly, Short metatarsal, Advanced ossification of carpal bones, Sh... OMIM:614613
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans... ORPHA:30391
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Open ... OMIM:200990
Biliary Atresia, Extrahepatic
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci... OMIM:210500
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Cleft upper lip, Preaxial polydactyly, Hamartoma of ton... OMIM:613091
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ... OMIM:143095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, El... OMIM:276820
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Encephalocele, Neonatal death, Talipes equinov... OMIM:108720
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Aplasia/Hypopla... ORPHA:989
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated circulating hepatic transaminase concentration, Portal hypertension OMIM:615506
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Camptodactyly of finger, Cutaneous finger syndactyly, Tented upper li... ORPHA:896
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Van Den Ende-Gupta Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Narrow mouth,... OMIM:600920
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev... ORPHA:567983
Craniorachischisis
Bifid sternum, Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anal atre... ORPHA:63260
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Dislocated radial head, Hypoplasia of the capital femoral epiphysis, Single... OMIM:617425
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Hydrocephalus, Cleft palate ORPHA:2736
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Portal hypertensi... ORPHA:131
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Block vertebrae, Failure of eruptio... OMIM:272460
Phocomelia, Schinzel Type
High, narrow palate, Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the ... ORPHA:2879
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Encephalocele, Orofacial cleft, Hydr... ORPHA:1335
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Mesomelia, Abnormality of the dentition, Rhizomelia, Delayed ossification of carpal bones, Small ... OMIM:271510
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger syndactyly, Broad thumb, Op... ORPHA:1507
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Micromelia, Ulnar deviation of the ... OMIM:600383
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Carpal synostosis, Elbow flexion contracture, Cutaneous finger syndactyly, H... OMIM:178110
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Talipes equinovarus, Hydroc... OMIM:612284
Hand-Foot-Genital Syndrome
Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Synostosis of ... ORPHA:2438
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Narrow mouth, Patellar aplasia, Perineal fistula,... OMIM:218600
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Myelopathy, Progressive alveolar ridge... OMIM:252500
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Kyphomelic Dysplasia
Radial bowing, Cleft upper lip, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Pterygium... OMIM:211350
Constricting Bands, Congenital
Tessier cleft, Cleft upper lip, Encephalocele, Talipes equinovarus, Hand polydactyly, Cleft palat... OMIM:217100
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Chol... OMIM:617156
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tarsal bones, Sclero... ORPHA:371428
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad long bones, Broad phalanx, High palate, Short metacarpal, Knee flexion contracture, Abnorma... OMIM:271665
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Mild postnatal growth retardation, Hyperechogenic pancreas, Ab... ORPHA:456312
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Delayed eruption of teeth, Genu valgum, Short humer... OMIM:600373
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Hip subluxation, Short thumb, Talipes valgus, Overlap... ORPHA:221120
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Mosaic Trisomy 9
Asplenia, Intrauterine growth retardation, Spina bifida, Abnormal liver lobulation ORPHA:99776
Popliteal Pterygium Syndrome
Bifid uvula, Intercrural pterygium, Popliteal pterygium, Fibrous syngnathia, Cleft upper lip, Cut... OMIM:119500
Ellis Van Creveld Syndrome
Abnormal oral mucosa morphology, Abnormality of the dentition, Short distal phalanx of finger, Ab... ORPHA:289
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Giant cell hepatitis, Elevat... OMIM:208085
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Advanced ossification of carpal bones, Short femoral neck, Thick lower lip vermilion, Flared meta... OMIM:610442
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hydranencephaly, Hepatic sinusoidal dilatation, Tricuspid regurgitation, Retinal hemorrhage, Sple... OMIM:620371
Diaphanospondylodysostosis
Intrauterine growth retardation, Disproportionate short-trunk short stature, Abnormal liver lobul... OMIM:608022
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Enlargement of the ankles, Metaphyseal irregularity, Metaphyseal cupping, Irregular iliac crest, ... ORPHA:99646
Spastic Paraplegia 9A, Autosomal Dominant
Hiatus hernia, Carpal bone hypoplasia, Abnormal pelvic girdle bone morphology OMIM:601162
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Talipes equinovarus, 2-3 finger syndactyly, Broad ... OMIM:312870
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Rectal abscess, Bilateral talipes equinovarus, Men... OMIM:600145
Luscan-Lumish Syndrome
Advanced ossification of carpal bones OMIM:616831
Liver Disease, Severe Congenital
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:619991
Sarcoidosis
Hepatic failure, Decreased liver function, Portal hypertension, Arrhythmia, Abnormal liver parenc... ORPHA:797
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Long philtrum, Carpal synostosis, Fusion of middle ear ossicles, Brachydac... OMIM:157800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Joint contracture of the hand, Anteriorly placed anus, Carpal synostosis, Femoral bowing, Humeror... OMIM:201750
Pmm2-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyo... ORPHA:79318
Generalized Arterial Calcification Of Infancy
Abnormal hip joint morphology, Abnormal calcification of the carpal bones, Stippled calcification... 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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