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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
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... OMIM:186550
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Langer Mesomelic Dysplasia
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Mesomelic/rhizomelic limb shor... ORPHA:2632
Craniosynostosis, Adelaide Type
Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m... OMIM:600593
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o... OMIM:182255
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Pierre Robin Sequence With Facial And Digital Anomalies
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... OMIM:311895
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Acropectorovertebral Dysplasia
Finger syndactyly, Tarsal synostosis, Spina bifida, Camptodactyly of finger, High, narrow palate,... ORPHA:957
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... ORPHA:968
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... OMIM:176240
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Hand oligodactyly, Cleft palate OMIM:172880
Pseudoachondroplasia
Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Increased laxity of ankles... ORPHA:750
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... ORPHA:93320
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal carpal morpholo... ORPHA:93351
Juberg-Hayward Syndrome
Aplasia/Hypoplasia of the thumb, Cleft upper lip, Abnormal toe morphology, Abnormal carpal morpho... OMIM:216100
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O... ORPHA:50809
Syndactyly, Type V
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... OMIM:186300
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... OMIM:606895
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... OMIM:619110
Acropectorovertebral Dysplasia
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... OMIM:102510
Winchester Syndrome
Arthropathy, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad met... OMIM:277950
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate... OMIM:609655
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... ORPHA:3104
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... ORPHA:157801
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... OMIM:249710
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... OMIM:311300
Sprengel Deformity
Abnormal shoulder morphology, Shoulder muscle hypoplasia, Cleft palate, Abnormality of the should... ORPHA:3181
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hepatic fibrosis, Elevated gamma-glut... OMIM:614480
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr... OMIM:105835
Split-Hand/Foot Malformation 1
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... OMIM:183600
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Cleft pal... ORPHA:85166
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ... OMIM:186570
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Intrauterine growth retardation OMIM:189800
Disorganization, Mouse, Homolog Of
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication OMIM:223200
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp... OMIM:228900
Proximal Symphalangism
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... ORPHA:3250
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Postnatal growth retar... OMIM:232700
Pseudoachondroplasia
Genu recurvatum, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarthritis, Fragmente... OMIM:177170
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Congenital hip dislocation, Long distal phalanx of finger, Slender proximal phalanx of finger, Di... OMIM:603546
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan... DECIPHER:46
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Metaphyseal dysplasia, Bowing of the legs, Delayed ossification of carpal bones, Irregular acetab... OMIM:617974
Brachydactyly Type B
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... ORPHA:93383
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Oligodontia of primary teeth, Tarsal synostosis, Cleft palate, Abnormality of the ankle, Carpal s... ORPHA:2010
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Non-midline cleft lip, Cleft palate ORPHA:1074
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, R... OMIM:614078
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... ORPHA:2631
Brachydactyly, Type B2
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... OMIM:611377
Brachydactyly Type B2
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... ORPHA:140908
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Toe syndactyly, Split foot, Cleft palate OMIM:183700
Otopalatodigital Syndrome Type 1
Bowing of the long bones, Sandal gap, Proximal placement of thumb, Short hallux, Abnormality of t... ORPHA:90650
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
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
Mesomelia-Synostoses Syndrome
Micromelia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morphology, Clinodacty... ORPHA:2496
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of carpal bones, Clef... OMIM:620269
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... ORPHA:2476
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Coxa valga, Carious teeth, Pierre-Robin sequence, Advanced ossification of carpa... OMIM:618363
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo... ORPHA:1228
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft palate, Cleft upper lip OMIM:106250
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, D... OMIM:605282
Coloboma Of Macula And Skeletal Anomalies
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... OMIM:216800
Congenital Laryngomalacia
Non-midline cleft lip, Cleft palate ORPHA:2373
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate OMIM:119540
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal fibula morpholog... ORPHA:1836
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Abnormal metatarsal morphology, Hip subluxation, Flat capital femoral epiph... ORPHA:93360
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... OMIM:226980
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long fingers, Aplasia ... OMIM:610797
Seckel Syndrome 7
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Clinodactyly of the 5th finger, Sh... OMIM:614851
Desbuquois Dysplasia 1
Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,... OMIM:251450
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Holzgreve Syndrome
Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Short femoral n... OMIM:608154
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capital femoral ... OMIM:147891
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... ORPHA:2639
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Cleft upper lip, Absent thumb, Hypoplasia of the radius, Hand oligod... OMIM:602418
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Gilbert Syndrome
Elevated hepatic transaminase, Jaundice, Hepatic failure OMIM:143500
Hydrolethalus Syndrome 2
Hydrocephalus, Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly,... OMIM:614120
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin... OMIM:610017
Parietal Foramina 1
Encephalocele, Wormian bones, Cleft palate, Cleft upper lip OMIM:168500
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the hand, Mesome... OMIM:609616
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Irregular, rachitic-like metaphyses, Flared metaphysis, Elbow flexion contractur... OMIM:184252
Anencephaly 2
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge OMIM:619452
Distal Symphalangism
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Synostosis of carpal ... ORPHA:3248
Meckel Syndrome, Type 5
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... OMIM:611561
Acalvaria
Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly ORPHA:945
Odontochondrodysplasia 1
Delayed eruption of teeth, Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphys... OMIM:184260
Symphalangism, Proximal, 1A
Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy... OMIM:185800
Acrorenal Syndrome
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... ORPHA:971
Diarrhea 13
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis OMIM:620357
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Short philtrum, ... OMIM:600002
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Cleft palate, Fl... ORPHA:1856
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Limb-Mammary Syndrome
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... OMIM:603543
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... OMIM:619484
Synostoses, Tarsal, Carpal, And Digital
Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta... OMIM:186400
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Abnormality of the humerus, Preaxial hand pol... ORPHA:3098
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Desbuquois Dysplasia 2
Dental crowding, Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short p... OMIM:615777
Schisis Association
Encephalocele, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, Cleft palate, Un... ORPHA:63862
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Bowing of the long bones, Broad long bones, Micromelia, Hydrocephalus, Metaphyseal... OMIM:224400
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Malabsorption, Aplasia/Hypoplasia of t... ORPHA:1225
Congenital Bile Acid Synthesis Defect Type 1
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Fail... ORPHA:79301
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
49,Xyyyy Syndrome
Abnormality of the epiphyses of the elbow, Large carpal bones, Finger clinodactyly, Radioulnar sy... ORPHA:99330
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln... ORPHA:2741
Multiple Synostoses Syndrome 1
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... OMIM:186500
Ivic Syndrome
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... OMIM:147750
Multiple Epiphyseal Dysplasia Type 4
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Double-... ORPHA:93307
Schneckenbecken Dysplasia
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Cleft palate, Flat acetabular r... OMIM:269250
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Ankle swelling, Wrist swelling, Osteolysis involving tarsal bones, M... OMIM:166300
Hartsfield Syndrome
Encephalocele, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprose... ORPHA:2117
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Anauxetic Dysplasia 1
Hip contracture, Rhizomelia, Hypoplastic ilia, Short toe, Flared metaphysis, Elbow flexion contra... OMIM:607095
Orofaciodigital Syndrome Iv
Toe syndactyly, Hamartoma of tongue, Accessory oral frenulum, Postaxial polydactyly, Cleft palate... OMIM:258860
Larsen Syndrome
Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo... ORPHA:503
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Multiple joint dislocation, Hip dislocation, Knee disloca... OMIM:618395
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... OMIM:235555
Mohr Syndrome
Lobulated tongue, High palate, Short palm, Clinodactyly of the 5th finger, Syndactyly, Accessory ... OMIM:252100
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Wrist swelling, Downturned corners of mouth, Slender long bone, Metacarp... ORPHA:2774
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Diprosopus
Non-midline cleft lip, Anencephaly, Cleft palate ORPHA:1681
Enlarged Parietal Foramina
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi... ORPHA:60015
Cholestasis, Intrahepatic, Of Pregnancy, 1
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... OMIM:147480
Frontometaphyseal Dysplasia 1
Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Knee flexion contracture, In... OMIM:305620
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short palm, Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wi... OMIM:611717
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni... OMIM:603194
Diaphanospondylodysostosis
Narrow pelvis bone, Myelomeningocele, Abnormal vertebral segmentation and fusion, Cleft palate ORPHA:66637
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity, Coxa vara, ... ORPHA:457395
Microphthalmia With Limb Anomalies
Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp... OMIM:206920
Qazi-Markouizos Syndrome
Tapered finger, High, narrow palate, Hypoplasia of teeth, Delayed ossification of carpal bones, O... ORPHA:3010
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Iliac c... ORPHA:239
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... ORPHA:93314
Hemifacial Microsomia With Radial Defects
Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,... OMIM:141400
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera... ORPHA:64743
Chondrodysplasia, Blomstrand Type
Micromelia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal bones, Advanc... OMIM:215045
Oculofaciocardiodental Syndrome
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... ORPHA:2712
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius, Cleft palate, Cleft upper lip OMIM:179400
Joubert Syndrome 18
Occipital encephalocele, Trident pelvis, Bowing of the long bones, Postaxial polydactyly, Cleft p... OMIM:614815
Cardiospondylocarpofacial Syndrome
Brachydactyly, High, narrow palate, Short palm, Failure of eruption of permanent teeth, Tooth mal... ORPHA:3238
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Distal Limb Deficiencies-Micrognathia Syndrome
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Tarsal synostosis, Abnormality of t... ORPHA:1307
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Larsen Syndrome
Vertebral fusion, Short metacarpal, Tapered humerus, Spatulate thumbs, Cleft upper lip, Elbow dis... OMIM:150250
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... ORPHA:79303
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion contracture, Bro... OMIM:259600
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip OMIM:137215
Microcephalic Primordial Dwarfism, Dauber Type
Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, Clinodactyly of ... ORPHA:319675
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Postaxial foot ... OMIM:607361
Microphthalmia With Limb Anomalies
Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot oligodactyly, Clinodactyly of ... ORPHA:1106
Atelosteogenesis, Type Iii
Radial bowing, Rhizomelia, Sandal gap, Elbow dislocation, Tombstone-shaped proximal phalanges, Cl... OMIM:108721
Muenke Syndrome
Tarsal synostosis, High, narrow palate, Hydrocephalus, Cone-shaped epiphysis, Short foot, Short p... ORPHA:53271
Pfeiffer Syndrome
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... ORPHA:710
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f... OMIM:250420
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Meckel Syndrome, Type 10
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... OMIM:614175
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral segmentation and ... ORPHA:90652
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... OMIM:184253
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Carious teeth, Flared metaphysis, Hypoplastic pubic bone, Glossoptosis, Short long bone, Small ep... ORPHA:93346
Steel Syndrome
Carpal synostosis, Hip dislocation, Coxa vara, Clinodactyly of the 5th finger, Limited elbow exte... OMIM:615155
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Camptodactyly of finger, Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:2521
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... OMIM:268305
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Cle... OMIM:618469
Pelvis-Shoulder Dysplasia
Syndactyly, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia of the fibula, Mesomelic/rh... ORPHA:2839
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Jaun... OMIM:607765
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Cleft palate, Short distal phalanx of finger OMIM:601355
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Tap... OMIM:239300
Trisomy 8Q
Camptodactyly of finger, Non-midline cleft lip, Myelomeningocele, Cleft palate, Orofacial cleft, ... ORPHA:1752
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... ORPHA:888
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Hydrocephalus, Non... ORPHA:1908
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Exencephaly, L... ORPHA:2211
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow... OMIM:223800
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... OMIM:600803
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Abnorm... ORPHA:3121
Cleidocranial Dysplasia 2
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Coxa valga, Supernu... OMIM:620099
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension OMIM:617068
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa... OMIM:616278
Atelosteogenesis Type Ii
Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers... ORPHA:56304
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... ORPHA:69663
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Metaphyseal... ORPHA:440354
Axial Spondylometaphyseal Dysplasia
Iliac crest serration, Proximal femoral metaphyseal irregularity, Upper limb undergrowth, Coxa va... ORPHA:168549
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Non-midline cleft lip, Abnormal femur morphology, Cleft pal... ORPHA:3429
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... OMIM:140000
Hajdu-Cheney Syndrome
Intestinal malrotation, Hydrocephalus, Dental malocclusion, Foot acroosteolysis, Osteolytic defec... OMIM:102500
Anophthalmia Plus Syndrome
Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Deviation of f... ORPHA:1104
Cousin Syndrome
Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Wrist flexio... OMIM:260660
Aase-Smith Syndrome I
Hydrocephalus, Cleft palate, Talipes equinovarus, Open mouth, Slender finger OMIM:147800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Epiphyseal dysplasia, Bowing of the long bones, Hypoplastic ilia, Flared metaphysis, Hip dislocat... OMIM:615349
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Hydrocephalus, Meningocele, Anencephaly, Postaxial hand ... OMIM:611134
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones... OMIM:614091
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Short metacarpal, Short fourth metatarsal, Tented upper lip vermilion, Overlapping toe, Craniosyn... OMIM:616723
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... OMIM:165590
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Brachydactyly, Dental crowding, Cleft soft palate, Abnormality of the d... OMIM:616331
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... ORPHA:3320
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... OMIM:274000
Frontometaphyseal Dysplasia
Single transverse palmar crease, Limited elbow movement, Metaphyseal widening, Short metatarsal, ... ORPHA:1826
Pfeiffer Syndrome Type 2
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... ORPHA:93259
Orofaciodigital Syndrome Vi
Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Accessory oral frenulum, Cleft... OMIM:277170
Orofaciodigital Syndrome Type 2
Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Hamartoma of tong... ORPHA:2751
Waardenburg Syndrome, Type 3
Scapular winging, Aganglionic megacolon, Camptodactyly of finger, Cutaneous finger syndactyly, Ca... OMIM:148820
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Jaun... ORPHA:30391
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, High palate, Large iliac ... OMIM:271640
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... OMIM:602347
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... OMIM:200990
Acrodysostosis 2 With Or Without Hormone Resistance
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... OMIM:614613
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Metaphyseal... OMIM:613091
Spondyloepimetaphyseal Dysplasia, X-Linked
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation... OMIM:300106
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc... OMIM:143095
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsal bones, Phocomeli... OMIM:276820
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Hypoglossia-Hypodactyly Syndrome
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... ORPHA:989
Telangiectasia, Hereditary Hemorrhagic, Type 5
Elevated hepatic transaminase, Portal hypertension OMIM:615506
Atelosteogenesis, Type I
Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Encephalocele, Short metacarpa... OMIM:108720
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... ORPHA:567983
Tukel Syndrome
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly OMIM:609428
Van Den Ende-Gupta Syndrome
Dental crowding, Glenoid fossa hypoplasia, High, narrow palate, 2-3 toe cutaneous syndactyly, Fem... OMIM:600920
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad dista... OMIM:101200
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid stern... ORPHA:63260
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Coxa... OMIM:617425
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal hip bone morphology, Narrow m... ORPHA:1323
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2736
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Jaundice... ORPHA:131
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... ORPHA:2879
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, High pala... ORPHA:3103
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Short philtrum, Clinoda... ORPHA:1507
Mesomelia-Synostoses Syndrome
Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short metatarsal, Tibial bow... OMIM:600383
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Brachydactyly, Rhizomelia, Abnormality of the dentition, Flat capital femoral epiphysis, Metaphys... OMIM:271510
Pentalogy Of Cantrell
Encephalocele, Non-midline cleft lip, Hydrocephalus, Anencephaly, Abnormal tibia morphology, Clef... ORPHA:1335
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Vertebral fusion, Scapular winging, Short metacarpal, Bowed humerus, Epiphysea... OMIM:272460
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Tarsal synostosis, Multiple pterygia, Craniosynostosis, Elbow ... OMIM:178110
Meckel Syndrome, Type 6
Occipital encephalocele, Cleft upper lip, Hydrocephalus, Postaxial hand polydactyly, Anencephaly,... OMIM:612284
Baller-Gerold Syndrome
Limited elbow movement, Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida oc... OMIM:218600
Hand-Foot-Genital Syndrome
Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal... ORPHA:2438
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... OMIM:211350
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Mucolipidosis Ii Alpha/Beta
Metaphyseal widening, Progressive alveolar ridge hypertropy, Split hand, Gingival overgrowth, Fla... OMIM:252500
Ivic Syndrome
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... ORPHA:2307
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Elevated ... OMIM:617156
Mosaic Trisomy 9
Spina bifida, Asplenia, Patent ductus arteriosus, Abnormal liver lobulation, Intrauterine growth ... ORPHA:99776
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Mild postnatal growth retardation, Aplasia/Hypoplasia of the pancreas, Abnormal liv... ORPHA:456312
Pseudoaminopterin Syndrome
Brachydactyly, Overlapping toe, Single transverse palmar crease, Limited elbow movement, Sagittal... ORPHA:221120
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t... ORPHA:371428
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap... OMIM:617247
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Knee flexion contracture, Abnormal calcification of the carpal bo... OMIM:271665
Popliteal Pterygium Syndrome
Cleft upper lip, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal pterygium, Cutaneous ... OMIM:119500
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Abnormal oral mucosa morphology, Micromelia, Abnormality of the dentit... ORPHA:289
Constricting Bands, Congenital
Encephalocele, Syndactyly, Cleft upper lip, Cleft palate, Hand polydactyly, Talipes equinovarus OMIM:217100
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabu... OMIM:610442
Diaphanospondylodysostosis
Intrauterine growth retardation, Abnormal liver lobulation, Disproportionate short-trunk short st... OMIM:608022
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Enlargement of the ankles, Irregular ... ORPHA:99646
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology ORPHA:1332
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Carpal bone hypoplasia, Hiatus hernia OMIM:601162
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Rectal abscess, B... OMIM:600145
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Gingival overgrowth, ... OMIM:312870
Liver Disease, Severe Congenital
Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron concentration, Pan... OMIM:619991
Luscan-Lumish Syndrome
Advanced ossification of carpal bones OMIM:616831
Sarcoidosis
Hepatomegaly, Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricula... ORPHA:797
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Wide mouth, Cone-shaped epiphysis, Pseudoepiphyses, Fused cervical vertebrae, ... OMIM:157800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Arachnodactyly, Rocker bottom foot, Craniosynostosis, Tarsal synostosis, Ulnar bowing, Humeroradi... OMIM:201750
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Abnormal liver parenchyma morpholog... ORPHA:79318
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Stippled calcification of the shoulder, Abnormal calcification of the ca... 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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