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Gene: Ttc21b MGI:1920918

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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:
tetratricopeptide repeat domain 21B
Synonyms:
2410066K11Rik,  line 158,  Thm1,  aln

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 Ttc21b 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 Ttc21b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal... ORPHA:474
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short lo... OMIM:613819
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820

The table below shows human diseases predicted to be associated to Ttc21b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight OMIM:613375
Obesity
Obesity, Increased waist to hip ratio OMIM:601665
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j... OMIM:609813
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Long penis, Scoliosis, A... ORPHA:1988
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal thora... ORPHA:294975
Odontochondrodysplasia 1
Flat acetabular roof, Polycystic kidney dysplasia, Cone-shaped epiphyses of the phalanges of the ... OMIM:184260
Spondylocostal Dysostosis 2, Autosomal Recessive
Vertebral segmentation defect, Rib fusion, Short neck, Vertebral clefting, Hemivertebrae OMIM:608681
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Short distal phalanx of finger, Short thumb, Sandal gap, Broad hallux, Overlapping toe, Overlappi... OMIM:618167
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Rib fusion, Unilateral oligodactyly, Sprengel anomaly, ... OMIM:173800
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Thoracic hypoplasia, Radial bowing, Hyperechogenic kidneys, Preaxial polydactyly, ... OMIM:617866
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Occipital encephalocele, Polydactyly OMIM:615397
Meckel Syndrome, Type 8
Narrow chest, Occipital encephalocele, Hyperechogenic kidneys, Encephalocele, Polydactyly, Talipe... OMIM:613885
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Agenesis of corpus callosum, Talipes equinovarus, Polycystic kidney dysplasia, Renal dysplasia, C... OMIM:613091
Spondylometaphyseal Dysplasia, Corner Fracture Type
Pectus carinatum, Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of meta... OMIM:184255
Diaphanospondylodysostosis
Myelomeningocele, Absent or minimally ossified vertebral bodies, Missing ribs, Short neck, Abnorm... ORPHA:66637
Becker Nevus Syndrome
Pectus carinatum, Micromelia, Abnormal tibia morphology, Rib fusion, Supernumerary ribs, Spina bi... ORPHA:64755
Spondylocostal Dysostosis 5
Pectus carinatum, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Short neck, Low back pai... OMIM:122600
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal scleros... OMIM:609052
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnormal rib morphology, Clinodactyly... ORPHA:3268
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Rib fusion,... OMIM:277300
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Short thorax, Finger syndactyly, Camptodactyly of finger, Umbilical hernia, Abnormalit... ORPHA:2311
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Vertebral segmentation defect, Missing ribs, Short neck... ORPHA:1797
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Myelomeningocele, Abnormal odontoid process morphology, Bell-shaped thorax, Vert... OMIM:613686
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger sy... OMIM:102510
Acropectoral Syndrome
Pectus carinatum, Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb... OMIM:605967
Jeune Syndrome
Nephropathy, Narrow chest, Nephronophthisis, Abnormal clavicle morphology, Short thorax, Abnormal... ORPHA:474
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Jawad Syndrome
Thoracic scoliosis, Postaxial polydactyly, 4-5 toe syndactyly, Hallux valgus, Absent fourth finge... OMIM:251255
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Narrow chest, Hypoplastic scapulae, Renal hypoplasia, Short distal phalanx of finger... OMIM:614091
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Narrow chest, Nephrocalcinosis, Thoracic dysplasia, Bell-shaped thorax, Horizontal ribs, Postaxia... OMIM:615633
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Bardet-Biedl Syndrome 10
Renal cyst, Renal insufficiency, Polydactyly OMIM:615987
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti... OMIM:617610
Acromesomelic Dysplasia, Maroteaux Type
Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Bowing of the long bones, Spr... ORPHA:40
Kyphomelic Dysplasia
Narrow chest, Micromelia, Abnormal form of the vertebral bodies, Undulate ribs, Missing ribs, Bow... ORPHA:1801
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Scoliosis, Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand... OMIM:609616
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Narrow chest, Stage 5 chronic kidney disease, Hepatic cysts, Polydactyly, Brachydactyly, Short lo... OMIM:613819
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Hypoplastic cervical v... ORPHA:2635
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Congenital Disorder Of Glycosylation, Type Iig
Small hand, Shallow acetabular fossae, Lateral ventricle dilatation, Talipes equinovarus, Short n... OMIM:611209
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Pectus carinatum, Narrow chest, Polysyndactyly of hallux, Lateral ventricle dilata... OMIM:263520
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Holoprosencephaly, Ectopi... OMIM:146510
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Sandal gap, Cervical ribs, Preaxial polydactyly, Genu valgum, Sin... OMIM:617927
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ... OMIM:271650
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... OMIM:187760
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Micromelia, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Clinodactyly, Genu valgum, Agenes... ORPHA:166024
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Squared iliac bones, Thoracic hypoplasia, Posterior rib cupping, Micromelia, Metap... OMIM:608728
Femoral-Facial Syndrome
Toe syndactyly, Humeroradial synostosis, Encephalocele, Agenesis of corpus callosum, Limited elbo... OMIM:134780
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Clavicular sclerosis, Diaphyseal... ORPHA:2790
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Joubert Syndrome 18
Occipital encephalocele, Horseshoe kidney, Trident pelvis, Agenesis of corpus callosum, Bowing of... OMIM:614815
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Pectus carinatum, Synostosis of carpal bones, Abnormal epiphysis morphology, Micro... ORPHA:93351
Nephronophthisis 20
Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren... OMIM:617271
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Renal hypoplasia/aplasia, Cerv... ORPHA:2345
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Narrow chest, Micromelia, Preaxial polydactyly, Occipital meningocele, Short r... OMIM:616546
Bardet-Biedl Syndrome 16
Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Polydactyly, Renal cyst, Ren... OMIM:615993
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Sprengel Deformity
Rib segmentation abnormalities, Sprengel anomaly, Hemivertebrae, Spina bifida occulta, Cervical s... OMIM:184400
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Horseshoe kidney, Abnormality of the ... ORPHA:2319
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Brachydactyly, Abnormality of the kidney, Syndactyly OMIM:615982
Distal Triplication 15Q
Dilatation of the renal pelvis, Abnormal sternum morphology, Horseshoe kidney, Nephroblastoma, Hy... ORPHA:314588
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Block vertebrae, Supernumerary vertebrae, Short ribs, Rib fusion, Missing ribs, Hydron... OMIM:271520
Meckel Syndrome 13
Polycystic kidney dysplasia, Occipital encephalocele OMIM:617562
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Truncal obesity ORPHA:293964
Gorlin Syndrome
Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Abnormal rib morphology, Rib fusio... ORPHA:377
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femoral metaphyseal irregu... OMIM:602271
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Nephronophthisis 14
Nephronophthisis, Polycystic kidney dysplasia OMIM:614844
Spondylometaphyseal Dysplasia, Kozlowski Type
Hypoplasia of the odontoid process, Carpal bone hypoplasia, Short neck, Irregular capital femoral... OMIM:184252
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Bell-shaped thorax, Sh... OMIM:614524
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity OMIM:618406
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Narrow chest, Rhizomelia, Abnormal clavicle morphology, Abnormal epiphysis morphol... ORPHA:93267
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Abnormality of the urinary system, Occipital encephalocele OMIM:213010
Nevus Comedonicus Syndrome
Abnormal vertebral morphology, Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bif... ORPHA:64754
Acrocapitofemoral Dysplasia
Radial bowing, Short tibia, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Broa... ORPHA:1507
Al-Gazali-Bakalinova Syndrome
Epiphyseal dysplasia, Pectus carinatum, Clinodactyly, Genu valgum, Agenesis of corpus callosum, P... OMIM:607131
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Multicystic kidney dysplasia, Rib fusion, Hand polydactyly, Scoliosis ORPHA:261197
Multiple Pterygium Syndrome, Escobar Variant
Patellar aplasia, Arachnodactyly, Talipes equinovarus, Short neck, Thoracolumbar scoliosis, Long ... OMIM:265000
Trisomy 17P
Scoliosis, Hydronephrosis, Tapered finger, Short neck, Hydrocephalus, Clinodactyly of the 5th fin... ORPHA:261290
Holt-Oram Syndrome
Broad thumb, Abnormal clavicle morphology, Finger syndactyly, Aplasia/Hypoplasia of the radius, A... ORPHA:392
Gillessen-Kaesbach-Nishimura Syndrome
Narrow greater sciatic notch, Short neck, Ulnar deviation of the hand, Metaphyseal widening, Shor... OMIM:263210
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia OMIM:614859
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Kbg Syndrome
Radial deviation of finger, Cervical ribs, Ulnar deviation of the 2nd finger, Single transverse p... OMIM:148050
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Encephalocele, Polydactyly OMIM:614465
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Umbilical hernia, Preaxial foot polydactyly, Genu... ORPHA:65759
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Meckel Syndrome, Type 9
Talipes equinovarus, Multicystic kidney dysplasia, Limb undergrowth, Occipital encephalocele OMIM:614209
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver... ORPHA:239
Meckel Syndrome, Type 10
Postaxial foot polydactyly, Occipital encephalocele, Anencephaly, Postaxial polydactyly, Renal cy... OMIM:614175
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Truncal obesity OMIM:240900
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Diastrophic Dysplasia
Ulnar deviation of finger, Scoliosis, Abnormal clavicle morphology, Abnormal epiphysis morphology... ORPHA:628
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior bea... OMIM:253000
Joubert Syndrome 7
Nephronophthisis, Genu valgum, Stage 5 chronic kidney disease, Encephalocele, Postaxial polydacty... OMIM:611560
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Platyspondyly, Short femoral neck, Narrow vertebral interpedicular distance, Carpal bo... OMIM:618395
Cerebrofaciothoracic Dysplasia
Narrow chest, Vertebral segmentation defect, Rib fusion, Short neck, Sprengel anomaly, Bifid ribs... ORPHA:1394
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Renal Dysplasia, Cystic, Susceptibility To
Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal... OMIM:601331
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Renal agenesis, Vertebral segmentation defect, Short neck, Abnormal rib morphology, Ectopic kidne... ORPHA:2578
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Postaxial polydact... OMIM:619879
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... OMIM:208500
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation, Elbow disloca... OMIM:210710
Campomelia, Cumming Type
Bowing of the long bones, Pancreatic cysts, Polycystic kidney dysplasia OMIM:211890
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Postaxial polydactyly, Clinodactyly, Polydactyly OMIM:615984
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Clinodactyly, Short middle phalanx of the 2nd finger, Partial duplication of th... OMIM:617926
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Unilateral renal agenesis, Narrow chest, Overlapping toe, Rib fusion, Talipes equinovarus, Short ... OMIM:213980
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati... OMIM:618061
Joubert Syndrome 39
Postaxial polydactyly, Occipital encephalocele, Polycystic kidney dysplasia, Joint contracture of... OMIM:619562
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, C... ORPHA:3082
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Poland Syndrome
Small hand, Ureterocele, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Encephalocele, Ren... ORPHA:2911
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Abnormal sternum morphology, Camptodactyly of finger, Umbilical hernia, Verteb... ORPHA:2990
Sillence Syndrome
Abnormal vertebral morphology, Broad thumb, Intervertebral disk degeneration, Flat acetabular roo... ORPHA:3168
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly, Epiphyseal stippling OMIM:614870
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormality of the urinary system, Abnormal form of the v... ORPHA:1834
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal hypoplasia, Cervical ribs, Preaxial hand polydactyly, Urinary bladder... OMIM:601389
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Abnormal rib morphology ORPHA:1513
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Angel-shaped phalanx, Narrow chest, Short distal phalanx of finger, Sandal gap, Cone-shaped epiph... OMIM:617102
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormality of the ureter, Abnormal hip bone morphology, Short neck... ORPHA:2522
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Hydranencephaly, Ureteral agenesis, Single transverse palmar crease, 2-3 toe sy... OMIM:236500
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure... DECIPHER:81
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Broad hallux, Deviation of the 5th finger, Agenesis of corpus callosum... OMIM:616362
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Abnormality of the urinary system, Short thumb, Abnormality of the... ORPHA:280
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial foot polydactyly, Occipital encephalocele, Polydactyly, H... OMIM:607361
Prune Belly Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract in... ORPHA:2970
Hyperparathyroidism 2 With Jaw Tumors
Papillary renal cell carcinoma, Nephroblastoma, Nephrolithiasis, Polycystic kidney dysplasia, Ren... OMIM:145001
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Pectus carinatum, Multiple rib fractures, Pectus excavatum, Short lower limbs, Sco... OMIM:259440
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Short neck, Polycystic kidney dysplasia, Hip dislocation OMIM:608776
Adenocarcinoma Of The Esophagus
Obesity ORPHA:99976
Diaphanospondylodysostosis
Unossified sacrum, Thoracic hypoplasia, Delayed vertebral ossification, Nephrogenic rest, Nephrob... OMIM:608022
Atelosteogenesis Type I
Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Absent or minimally ossified verteb... ORPHA:1190
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Renal cyst, Postax... OMIM:611561
Campomelia, Cumming Type
Multicystic kidney dysplasia, Clubbing of toes, Micromelia, Abnormal thorax morphology, Bowing of... ORPHA:1318
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Patellar aplasia, Bilateral single transverse palm... ORPHA:3103
Hajdu-Cheney Syndrome
Foot acroosteolysis, Umbilical hernia, Tall lumbar vertebral bodies, Genu valgum, Fibular bowing,... OMIM:102500
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Lateral ventricle dilatation, Dysplastic corpus callosum, Rib fusion, Clinodactyly o... ORPHA:544488
Aicardi Syndrome
Block vertebrae, Lateral ventricle dilatation, Butterfly vertebrae, Missing ribs, Supernumerary r... OMIM:304050
Klippel-Feil Syndrome 1, Autosomal Dominant
Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Short neck, Sprengel anomaly, Abnorma... OMIM:118100
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Micromelia, Flar... OMIM:187601
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Micromelia, Horizontal ribs, Short ribs, Pos... OMIM:617895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Tapered toe, Elbow flexion contracture, Renal insufficiency, Agenesis of corpus callosum, Hydrone... OMIM:608836
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Pectus excavatum, Multicystic kidney dysplasia, Radioulnar synostosis ORPHA:3270
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Robinow Syndrome
Webbed penis, Short distal phalanx of finger, Multicystic kidney dysplasia, Radioulnar dislocatio... ORPHA:97360
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Postaxial hand polydactyly, Men... OMIM:603194
3M Syndrome
Thin ribs, Short neck, Hypoplastic ischia, Hypospadias, Abnormality of the elbow, Increased verte... ORPHA:2616
Branchiootorenal Syndrome 1
Unilateral renal agenesis, Congenital hip dislocation, Renal malrotation, Abnormal renal collecti... OMIM:113650
Cat-Eye Syndrome
Abnormal rib morphology, Renal hypoplasia/aplasia, Hydronephrosis, Hip dysplasia, Abnormal locali... ORPHA:195
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Platyspondyly, Fibular overgrowth... ORPHA:93352
Melnick-Needles Syndrome
Short distal phalanx of finger, Narrow chest, Anisospondyly, Short thorax, Cone-shaped epiphyses ... ORPHA:2484
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Bell-shaped thorax, Talipes equinovarus, Aplasia/hypopl... ORPHA:2839
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal form of the vertebral bodies, Sprengel anomaly, Hydrocephalus, Brachydactyly... ORPHA:2180
Nephronophthisis 15
Nephronophthisis, Polydactyly OMIM:614845
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Bilateral single transverse palmar creases, Short neck, Ab... ORPHA:1703
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,... OMIM:263200
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Phaver Syndrome
Ulnar deviation of finger, Broad thumb, Short thumb, Abnormal form of the vertebral bodies, Campt... ORPHA:2876
Ulbright-Hodes Syndrome
Thin ribs, Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Fibular... ORPHA:3404
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Lateral ventricle dilatation, Twelfth rib hypoplasia, Bell-shaped thorax... ORPHA:397715
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Microphthalmia, Syndromic 3
Butterfly vertebrae, Agenesis of corpus callosum, Missing ribs, Supernumerary ribs, Rib fusion, H... OMIM:206900
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Mesoaxial hand polydactyly, Stage 5 chronic kidney disease, Polydacty... OMIM:615994
Verheij Syndrome
Short 5th finger, Renal hypoplasia, Renal agenesis, Clinodactyly, Branchial cyst, Renal cyst, Sho... OMIM:615583
Aicardi Syndrome
Small hand, Block vertebrae, Butterfly vertebrae, Missing ribs, Supernumerary ribs, Rib fusion, B... ORPHA:50
Acrodysplasia Scoliosis
Spina bifida occulta, Scoliosis, Brachydactyly, Vertebral segmentation defect ORPHA:2956
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, T... OMIM:272460
Bardet-Biedl Syndrome 19
Renal hypoplasia, Postaxial foot polydactyly, Mesoaxial hand polydactyly, Renal insufficiency, Hy... OMIM:615996
Rhyns Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Nephronophthisis, Small epiphyses, Abnormal aceta... ORPHA:140976
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Joint contracture of the hand, Single transverse palmar crease, Talipes equinovaru... OMIM:214110
Radio-Renal Syndrome
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Abnormal form of the vertebral bodies, ... ORPHA:3015
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Narrow chest, Lateral clavicle hook, Thoracic dysplasia, Preaxial polydactyly, Acetabular spurs, ... OMIM:615503
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... ORPHA:1120
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Hypoplasia of the odontoid process, Genu valgum, Bilateral talipes equino... OMIM:253010
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Hypoplasia of the odontoid process,... OMIM:300232
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Oligodact... ORPHA:3258
Achondrogenesis Type 1B
Narrow chest, Short thorax, Micromelia, Umbilical hernia, Talipes equinovarus, Short neck, Abnorm... ORPHA:93298
Multiple Acyl-Coa Dehydrogenase Deficiency
3-Methylglutaric aciduria, Glutaric aciduria, Hyperlordosis, Scapular winging, Lacticaciduria, Po... ORPHA:26791
Vacterl/Vater Association
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Renal... ORPHA:887
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Lower limb undergrowth, Tibial bowing, Bowing of the long bones, Abnormal fibula m... ORPHA:3035
Mucopolysaccharidosis Type 4
Platyspondyly, Pectus carinatum, Abnormal epiphysis morphology, Short thorax, Spinal canal stenos... ORPHA:582
White Forelock With Malformations
Finger syndactyly, Clinodactyly of the 5th finger, Sprengel anomaly, Abnormal rib morphology, Spi... ORPHA:2475
Intellectual Developmental Disorder, Autosomal Dominant 23
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Hypo... OMIM:615761
Floating-Harbor Syndrome
Dilatation of the renal pelvis, Clinodactyly, Short neck, Broad fingertip, Dislocated radial head... ORPHA:2044
Mucopolysaccharidosis, Type X
Platyspondyly, Broad clavicles, Irregular acetabular roof, Broad ribs, Genu valgum, Spatulate rib... OMIM:619698
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Agenesis of corpus c... ORPHA:1692
Arima Syndrome
Nephronophthisis, Postaxial foot polydactyly, Stage 5 chronic kidney disease, Occipital meningoce... OMIM:243910
Cog1-Cdg
Posterior rib gap, Rhizomelia, Butterfly vertebrae, Vertebral segmentation defect, Rib fusion, Ta... ORPHA:263508
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Myelomeningocele, Hepatic cysts, Ovarian cyst, Agenesis... OMIM:311200
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormality of the humeroulnar joint, Short neck, Hemivert... ORPHA:2234
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Renal insufficiency, Polydactyly, Postaxial polydactyly, Brachydactyl... OMIM:615986
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic ... OMIM:613095
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Postaxial foot polydactyly, Renal agenesis, Clinodactyly, Camptodactyl... OMIM:249000
Carnitine Palmitoyltransferase Ii Deficiency
Red-brown urine, Stage 5 chronic kidney disease, Agenesis of corpus callosum, Myoglobinuria, Rena... ORPHA:157
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Vertebral wedging, Abnormal sternum morphology, K... OMIM:109400
Say Syndrome
Short distal phalanx of finger, Ulnar deviation of the 3rd finger, Proximal renal tubular acidosi... OMIM:181180
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Wolf-Hirschhorn Syndrome
Agenesis of corpus callosum, Talipes equinovarus, Radioulnar synostosis, Short hallux, Hypospadia... OMIM:194190
Pontine Tegmental Cap Dysplasia
Rib fusion, Scoliosis, Hemivertebrae OMIM:614688
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Cervical ribs, Horseshoe kidney, Absent radius, Fibular aplasia, ... ORPHA:3320
Joubert Syndrome 15
Micropenis, Nephronophthisis, Exencephaly, Preaxial polydactyly OMIM:614464
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... ORPHA:163966
Fibrochondrogenesis
Narrow chest, Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Abnormal rib morphology ORPHA:1506
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Hydronephrosis, Renal cyst, Hypoplasia... OMIM:613390
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Sho... OMIM:228520
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Encephalocele,... ORPHA:90652
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Short distal phalanx of ... OMIM:620662
Biemond Syndrome Type 2
Hypospadias, Hydrocephalus, Preaxial polydactyly ORPHA:141333
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Syndactyly, Fused cervical ver... OMIM:607323
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Preaxial polydactyly, Crossed fused renal ectopia, Overlapping toe, Ov... OMIM:618142
Endocrine-Cerebroosteodysplasia
Fibular bowing, Barrel-shaped chest, Agenesis of corpus callosum, Talipes equinovarus, Bowed fore... OMIM:612651
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Lower limb undergrowth, Proximal/middle symphalan... OMIM:186500
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Hydroureter, Vesicovaginal fistula, Mesoaxial hand polydactyly, Hydro... OMIM:236700
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Short neck, ... OMIM:250220
Baller-Gerold Syndrome
Abnormal vertebral morphology, Carpal synostosis, Patellar aplasia, Agenesis of corpus callosum, ... OMIM:218600
Craniosynostosis, Herrmann-Opitz Type
Abnormality of the urethra, Finger syndactyly, Micromelia, Abnormality of the upper urinary tract... ORPHA:2145
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Red-brown urine, Dicarboxylic aciduria, Renal insufficiency, Agenesis of corpus callosum, Myoglob... ORPHA:228308
Phelan-Mcdermid Syndrome
Vesicoureteral reflux, 2-3 toe syndactyly, Large hands, Abnormality of the kidney, Clinodactyly o... OMIM:606232
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Platyspondyly, Abnormal epiphysis morphology, Meta... ORPHA:85167
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Adiposis Dolorosa
Obesity OMIM:103200
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Childhood-onset truncal obesity ORPHA:71529
Meckel Syndrome, Type 4
Encephalocele, Bowing of the long bones, Renal cyst, Hydrocephalus, Postaxial hand polydactyly, M... OMIM:611134
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Large pl... OMIM:215140
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Slender long bone, Abnormal hip bone morphology, Short nec... ORPHA:1486
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Epidermal Nevus Syndrome
Polycystic kidney dysplasia, Thoracolumbar scoliosis, Weakness of long finger extensor muscles, S... ORPHA:35125
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Foot polydactyly, Postaxial polydactyly,... OMIM:258860
Achondrogenesis Type 1A
Narrow chest, Micromelia, Umbilical hernia, Multiple rib fractures, Short neck, Short thorax, Sho... ORPHA:93299
Peroxisome Biogenesis Disorder 5A (Zellweger)
Epiphyseal stippling, Single transverse palmar crease, Agenesis of corpus callosum, Renal cyst, C... OMIM:614866
Orofaciodigital Syndrome Vi
Toe syndactyly, Renal agenesis, Clinodactyly, Preaxial hand polydactyly, Radial deviation of fing... OMIM:277170
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Hypospadias, Renal dysplasia OMIM:615985
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Long palm, Missing ribs, Arachnodactyly, Hemivertebrae, Ab... ORPHA:2759
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Renal cortical cy... OMIM:231680
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hydronephrosis, Hallux valgus, Pectus ex... OMIM:620511
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Renal cyst, Hypospadias, Syndactyly OMIM:605231
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
1P36 Deletion Syndrome
Scoliosis, Camptodactyly of finger, Spinal canal stenosis, 11 pairs of ribs, Clinodactyly of the ... ORPHA:1606
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal hip bone morphology, Vesicoureteral reflux, Vertebral segmentation defect, Renal hypopla... ORPHA:1166
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Unilateral renal agenesis, Renal agenesis, Abnormality of the vertebral column, Sprengel anomaly,... OMIM:601076
Renal Tubular Dysgenesis
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Bilateral single transverse palmar cre... ORPHA:3033
Lethal Kniest-Like Dysplasia
Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Mesomelic/rhi... ORPHA:2347
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Narrow chest, Rhizomelia, Short tibia, Preaxial polydactyly, Bell-shaped thorax... OMIM:616300
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Abnormal rib morphology, Preaxial hand polydactyly,... ORPHA:261344
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst, Back pain OMIM:174050
Grant Syndrome
Abnormality of the glenoid fossa, Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of... ORPHA:2097
Distal Deletion 12Q
Broad hallux, Elbow flexion contracture, Overlapping toe, Vesicoureteral reflux, Single transvers... ORPHA:96149
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Bowing of the long bones, Abnormal rib morphology, Communi... ORPHA:2050
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas... ORPHA:175
Pallister-Hall Syndrome
Toe syndactyly, Broad thumb, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Osteogenesis Imperfecta, Type Ii
Thin ribs, Platyspondyly, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long... OMIM:166210
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Hydrocephalus, Nephroblastoma, Syndactyly OMIM:602501
Trisomy 13
Narrow chest, Abnormal pelvic girdle bone morphology, Ectrodactyly, Abnormality of the ureter, Bi... ORPHA:3378
Joubert Syndrome 23
Dysplastic corpus callosum, Polydactyly OMIM:616490
Zttk Syndrome
Unilateral renal agenesis, Small hand, Cervical ribs, Horseshoe kidney, Dysplastic corpus callosu... OMIM:617140
Trisomy X
Multicystic kidney dysplasia, Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Hip dyspl... ORPHA:3375
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Hepatic cysts, Renal cyst, Duplication of phalanx of hallux, Syndactyly OMIM:263630
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Radioulnar synostosis, Absent radius, Ect... OMIM:192350
Cornelia De Lange Syndrome 6
Pectus carinatum, Short 1st metacarpal, Down-sloping shoulders, Arachnodactyly, Hip dysplasia, Cl... OMIM:620568
Holzgreve Syndrome
Renal hypoplasia/aplasia, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morp... ORPHA:2167
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Polycystic kidney dysplasia OMIM:600273
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Thoracic hypoplasia, Micromelia, Flared metaphysis, Dumbbell-shaped... OMIM:211350
Harrod Syndrome
Multicystic kidney dysplasia, Abnormal pelvic girdle bone morphology, Abnormal shoulder morpholog... ORPHA:2115
Bent Bone Dysplasia Syndrome 2
Thin ribs, Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic ... OMIM:620076
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Narrow chest, Cone-shaped epiphysis, Abnormal scapula morphology, Rhizomelic arm s... ORPHA:93317
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Short neck, Holoprosencephaly, Short foot, Short toe, Horizontal ribs, Brac... OMIM:269860
Microcephalic Primordial Dwarfism, Toriello Type
Abnormal epiphysis morphology, Brachydactyly, Abnormal rib morphology ORPHA:2643
Osteogenesis Imperfecta, Type X
Thin ribs, Platyspondyly, Narrow chest, Rhizomelia, Thoracic hypoplasia, Micromelia, Broad ribs, ... OMIM:613848
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Hemiatrophy, Abnormal thorax morphology, Stip... OMIM:302960
Cooper-Jabs Syndrome
Camptodactyly of finger, Umbilical hernia, Abnormal hip bone morphology, Missing ribs, Abnormal r... ORPHA:1488
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Vacterl Association With Hydrocephalus
Abnormal vertebral morphology, Renal hypoplasia, Absent thumb, Abnormality of the vertebral colum... OMIM:276950
Cardiospondylocarpofacial Syndrome
Cone-shaped epiphysis, Carpal synostosis, Horseshoe kidney, Vesicoureteral reflux, Herniation of ... OMIM:157800
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Limb undergrowth, Genu valgum, Long thorax OMIM:619142
Meckel Syndrome, Type 6
Postaxial foot polydactyly, Occipital encephalocele, Aplasia of the bladder, Horseshoe kidney, He... OMIM:612284
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Cerebrocostomandibular Syndrome
Posterior rib gap, Multicystic kidney dysplasia, Hydranencephaly, Myelomeningocele, Bell-shaped t... ORPHA:1393
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Agenesis of corpus callosu... ORPHA:3301
Ellis-Van Creveld Syndrome
Pectus carinatum, Narrow chest, Postaxial foot polydactyly, Capitate-hamate fusion, Hypoplastic i... OMIM:225500
Kaposiform Lymphangiomatosis
Abnormal scapula morphology, Fractures of the long bones, Abnormal sacrum morphology, Abnormal fo... ORPHA:464329
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Prominent fingertip pads, Thoracic hemivertebrae, Genu valgum, Arachnodactyly, Posta... OMIM:619721
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e... OMIM:305620
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Metaphyseal cupping, Scoliosis, Flared metaphysis, Short finger, Femor... OMIM:608940
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Polydactyly, Hydronephrosis, Postaxial hand polydactyly,... OMIM:615989
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Bell-shaped thorax, Short neck, Anterior ri... OMIM:271665
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Hydronephrosis, Polydactyly, Hip dysplasia, Scoliosis ORPHA:531151
Indomethacin Embryofetopathy
Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency ORPHA:1909
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Stippling of the epiph... ORPHA:79345
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Three M Syndrome 2
Thin ribs, Pectus carinatum, Short 5th finger, Clinodactyly, Slender long bone, Lumbar hyperlordo... OMIM:612921
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Small hand, Clinodactyly, Agenesis of corpus callosum, Talipes equi... OMIM:619980
Marden-Walker Syndrome
Multicystic kidney dysplasia, Agenesis of corpus callosum, Renal hypoplasia/aplasia, Arachnodacty... ORPHA:2461
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Thin ribs, Short 5th finger, Narrow chest, Short distal phalanx of finger, Triangular shaped dist... ORPHA:73230
22Q11.2 Deletion Syndrome
Renal hypoplasia, Umbilical hernia, Abnormal thorax morphology, Vesicoureteral reflux, Foot polyd... ORPHA:567
Immunodeficiency 61
Obesity OMIM:300310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypoplastic ischia, Hypospadias, Polydactyly OMIM:616910
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Ethmoidal encephalocele, Abnormal rib morphology ORPHA:280195
Cantú Syndrome
Platyspondyly, Short distal phalanx of finger, Narrow chest, Finger syndactyly, Umbilical hernia,... ORPHA:1517
Laurence-Moon Syndrome
Micropenis, Abnormality of the hand, Polydactyly OMIM:245800
Joubert Syndrome 35
Renal fibrosis, Pectus carinatum, Multicystic kidney dysplasia, Recurrent urinary tract infection... OMIM:618161
Cleidocranial Dysplasia
Narrow chest, Hypoplastic scapulae, Abnormal pelvic girdle bone morphology, Abnormal epiphysis mo... ORPHA:1452
Pelger-Huet Anomaly
Short 3rd metacarpal, Upper limb undergrowth, Umbilical hernia, Short 5th metacarpal, Polydactyly... OMIM:169400
Senior-Loken Syndrome 9
Nephronophthisis, Stage 5 chronic kidney disease, Polydactyly, Hypoplasia of the femoral head, Tu... OMIM:616629
Ventriculomegaly With Cystic Kidney Disease
Hyperechogenic kidneys, Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly,... OMIM:219730
Dysosteosclerosis
Short diaphyses, Platyspondyly, Narrow chest, Broad femoral neck, Flared metaphysis, Broad ribs, ... OMIM:224300
Trisomy 20P
Platyspondyly, Finger syndactyly, Abnormal form of the vertebral bodies, Preaxial hand polydactyl... ORPHA:261318
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Broad ribs, Long hallux, Broad... OMIM:600002
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Joubert Syndrome 17
Postaxial polydactyly, Abnormal renal morphology, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Mosaic Trisomy 9
Hip dislocation, Micromelia, Finger clinodactyly, Camptodactyly of finger, Horseshoe kidney, Elbo... ORPHA:99776
Isolated Polycystic Liver Disease
Multiple renal cysts, Back pain ORPHA:2924
Senior-Loken Syndrome 8
Nephronophthisis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidney diseas... OMIM:616307
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Talipes equinovar... OMIM:609945
Garg-Mishra Progeroid Syndrome
Thin ribs, Platyspondyly, Narrow chest, Slender long bone, Slender metacarpals, Ovoid vertebral b... OMIM:620601
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Femoral bowing, Biconcave vertebral bodies, Bowing of the long bones... OMIM:617952
Joubert Syndrome 27
Dilatation of the renal pelvis, Polydactyly OMIM:617120
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Broad ribs, Irregular carpal bones, Spondylolisthesis, Short ribs, Car... OMIM:252600
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Narrow chest, Rhizomelia, Multiple rib fractures, Bowing of the long bones, Angula... OMIM:616229
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly ORPHA:231140
Hypophosphatasia
Bowing of the long bones, Narrow chest, Abnormal metaphysis morphology, Abnormal rib morphology ORPHA:436
Septooptic Dysplasia
Polydactyly, Short finger, Agenesis of corpus callosum OMIM:182230
Mosaic Trisomy 8
Narrow chest, Camptodactyly of finger, Vesicoureteral reflux, Patellar aplasia, Agenesis of corpu... ORPHA:96061
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hydrocephalus, Brachydactyly, Postaxial hand polydactyly, Scoliosis... ORPHA:2075
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Umbilical hernia, Renal cyst, Thoracolumbar scoliosis, Pancreatic cysts, Polycystic kidney dysplasia OMIM:610199
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Short neck, Renal dysplasia,... OMIM:266920
Chromosome 1P36 Deletion Syndrome, Distal
Short 5th finger, Scoliosis, Lateral ventricle dilatation, Camptodactyly of finger, 11 pairs of r... OMIM:607872
3P25.3 Microdeletion Syndrome
Broad thumb, Scoliosis, Broad hallux, Overlapping toe, Postaxial polydactyly, 2-3 finger syndacty... ORPHA:435638
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Clinodactyly, Down-sloping shoulders, Renal cyst, Scapular winging, Tapered finger OMIM:615560
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Talipes equinovarus, Hypopla... OMIM:271640
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Thoracic hypoplasia, Rib gap, Horseshoe kidney, El... OMIM:117650
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Reduced renal corticomedullary differentiation, Renal interstitial fibros... OMIM:619902
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Ogden Syndrome
Congenital hip dislocation, Sandal gap, Broad hallux, Umbilical hernia, Clinodactyly of the 5th f... OMIM:300855
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Ureteral atresia, Pancreatic ... OMIM:208540
Thomas Syndrome
Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:3316
Achondrogenesis, Type Ii
Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Absent vertebral body ... OMIM:200610
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Microphallus, Ectrodactyly, Small placenta, Polydactyly, Clinodactyly of the 5t... ORPHA:397590
C Syndrome
Ulnar deviation of finger, Toe syndactyly, Fused sternal ossification centers, Postaxial foot pol... OMIM:211750
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Broad ribs, Genu valgum, Short neck, Mucopolysacchariduria, Abnormal metaph... ORPHA:583
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Hydronephrosis... OMIM:314390
Renpenning Syndrome
Clinodactyly of the 5th finger, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphol... ORPHA:3242
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Stenosis of the medullary cavity of the long bones, Cortical thickening of... ORPHA:93324
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndac... ORPHA:2092
Alagille Syndrome
Short distal phalanx of finger, Abnormal form of the vertebral bodies, Abnormality of the ureter,... ORPHA:52
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Occipital encephalocele, Multiple small medullary re... OMIM:216360
Retinitis Pigmentosa 51
Abnormality of the kidney, Polydactyly OMIM:613464
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ov... OMIM:253200
Coenzyme Q10 Deficiency, Primary, 2
Obesity, Overweight OMIM:614651
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly OMIM:618265
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Abnormal hip bone morphology, Hyperlordosis, Abnormal rib morphology, Clinodact... ORPHA:3068
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Dilatation of the renal pelvis, Joint contract... OMIM:600920
2Q37 Microdeletion Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Finger syndactyly, Umbilical hernia, Bi... ORPHA:1001
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplasia of penis, Micromelia, Abnormal rib morphology ORPHA:2772
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly, Kyphosis, Hydrocephalus, Thoracic scoliosis OMIM:603387
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral renal agenesis, Absent thumb, Lateral ventricle dilatation, Slender long bone, Cervica... ORPHA:500150
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Campomelic Dysplasia
Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Tarp Syndrome
Clinodactyly, Horseshoe kidney, Single transverse palmar crease, Hydronephrosis, Short sternum, T... OMIM:311900
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Multicystic kidney dysplasia, Renal agenesis, Short thumb, Ectrodactyly, Horse... ORPHA:2538
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
X-Linked Hypophosphatemia
Renal phosphate wasting, Shortening of the talar neck, Flattening of the talar dome, Rachitic ros... ORPHA:89936
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Broad ribs, Short ribs, Abnormal rib morphology, Micropenis, Postaxi... ORPHA:2519
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Short neck, Abnormal metacarpal morphology, Absent radius, Polycystic kidney dyspla... OMIM:268300
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... ORPHA:85184
Nphp3-Related Meckel-Like Syndrome
Multicystic kidney dysplasia, Renal dysplasia ORPHA:3032
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria, Hypoplasia of the u... OMIM:615398
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, 11 pairs of ribs, Agenesis of corpus callosum, Hydrocephalus, Hemi... ORPHA:77298
Monosomy 9Q22.3
Palmar pits, Abnormality of the vertebral column, Umbilical hernia, Nephroblastoma, Polydactyly, ... ORPHA:77301
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal vertebral morphology, Hypoplastic scapulae, Dilatation of the renal pelvis, Clinodactyly... ORPHA:95699
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Broad thumb, Finger syndactyly, Agenesis of corpus ... ORPHA:373
Kinsship Syndrome
Renal hypoplasia, Cervical ribs, Horseshoe kidney, Sacral dimple, Single transverse palmar crease... OMIM:619297
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Missing ribs, Hand... ORPHA:1647
Suleiman-El-Hattab Syndrome
Clinodactyly, Single transverse palmar crease, Polydactyly, Hydronephrosis, Brachydactyly OMIM:618950
Cornelia De Lange Syndrome 1
Short neck, Dislocated radial head, Ectopic kidney, Hypospadias, Reduced renal corticomedullary d... OMIM:122470
Medullary cystic kidney disease 2
Enuresis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedu... OMIM:603860
Osteogenesis Imperfecta, Type Iii
Thin ribs, Slender long bone, Tibial bowing, Biconcave vertebral bodies, Scoliosis, Kyphosis, Pro... OMIM:259420
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Renal cyst, Multicystic kidney dysplasia, Clinodactyly of the 5th finger, Meningocele ORPHA:2031
Chromosome 3Pter-P25 Deletion Syndrome
Overlapping toe, Postaxial polydactyly, Abnormal renal morphology, Sacral dimple, Tapered finger OMIM:613792
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Femoral bowing, Arachnodactyly, Abnormal renal morphology,... ORPHA:83
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Narrow chest, Fractured rib, Metaphyseal spurs, Umbilical h... OMIM:618188
Osteogenesis Imperfecta, Type Viii
Thin ribs, Platyspondyly, Kyphosis, Radial bowing, Slender long bone, Femoral bowing, Barrel-shap... OMIM:610915
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Umbilical hernia, Overlapping toe, Large placenta, Single transverse palmar ... ORPHA:254528
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Arachnodactyly, Short palm, Feta... ORPHA:73246
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Increased body mass index OMIM:614450
Pseudoaminopterin Syndrome
Slender finger, Synostosis of carpal bones, Short thumb, Sacrococcygeal pilonidal abnormality, Ho... ORPHA:221120
Papillorenal Syndrome
Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5... OMIM:120330
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Brachydactyly, Hydrocephalus, Micropenis OMIM:602361
Cranioectodermal Dysplasia 3
Narrow chest, 2-4 toe syndactyly, Nephronophthisis, Rhizomelia, Sandal gap, Stage 5 chronic kidne... OMIM:614099
Rhombencephalosynapsis
Finger syndactyly, Polydactyly, Abnormal renal morphology, Hydrocephalus, Short phalanx of finger... ORPHA:59315
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Glandular hypospadia... ORPHA:2473
Tuberous Sclerosis Complex
Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Renal... ORPHA:805
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Preaxial polydactyly, Horizontal ribs, Long thorax, Short ribs, Fibula... OMIM:617925
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Toe syndactyly, Kyphosis, Clinodactyly of the 5th finger,... ORPHA:464306
Joubert Syndrome 37
Hydronephrosis, Lumbar hyperlordosis, Postaxial polydactyly, Micropenis OMIM:619185
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Broad hallux, Clinodactyly of the 5th finger, Agenesis of corpus callo... ORPHA:457284
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Hypospadias ORPHA:544254
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He... OMIM:614817
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Scoliosis, Horseshoe kidney, Pyelone... OMIM:301111
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Multicystic kidney dysplasia, Joint contracture of the hand, Broad ribs, ... OMIM:300373
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Steinfeld Syndrome
Abnormal vertebral morphology, Abnormality of the vertebral column, Unilateral renal dysplasia, M... OMIM:184705
2P15P16.1 Microdeletion Syndrome
Toe clinodactyly, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Bilateral si... ORPHA:261349
Schwartz-Jampel Syndrome
Elbow dislocation, Abnormality of the ureter, Genu valgum, Hip contracture, Bowing of the long bo... ORPHA:800
Joubert Syndrome 14
Encephalocele, Postaxial polydactyly, Renal cyst, Hydrocephalus, Meningocele OMIM:614424
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Abnormal rib morphology, E... ORPHA:2769
Pyknoachondrogenesis
Unossified sacrum, Short iliac bones, Micromelia, Horizontal ribs, Short ribs, Aplastic pubic bon... ORPHA:3003
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Constricting Bands, Congenital
Abnormal rib cage morphology, Encephalocele, Talipes equinovarus, Hand polydactyly, Scoliosis, Bl... OMIM:217100
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar... ORPHA:2215
Fryns Syndrome
Thin ribs, Short distal phalanx of finger, Joint contracture of the hand, Thoracic hypoplasia, Re... OMIM:229850
Legius Syndrome
Male urethral meatus stenosis, Abnormal sternum morphology, Nephroblastoma, Polydactyly, Nephroli... ORPHA:137605
Hurler Syndrome
Abnormal vertebral morphology, Abnormal epiphysis morphology, Abnormal clavicle morphology, Abnor... ORPHA:93473
Camptodactyly Syndrome, Guadalajara Type 3
Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long bones, Short... ORPHA:488434
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Increased urine alpha-ketoglutarate concentration, Short 5th finger, Short distal phalanx of fing... OMIM:220500
Peroxisome Biogenesis Disorder 11A (Zellweger)
Renal cyst, Multiple renal cysts OMIM:614883
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Narrow chest, Renal hypoplasia, Abnormal pelvis bone ossification, Micromelia, Preaxial hand poly... ORPHA:93271
Genitopalatocardiac Syndrome
Renal cyst, Hypospadias OMIM:231060
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Nephroblastoma, Agenesis of corpus callosum, Short sternum, Renal c... OMIM:257300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Scoliosis, Short toe, Hydronephrosis, Renal cyst, Abnorma... ORPHA:464311
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Single transver... ORPHA:2886
Retinitis Pigmentosa 89
Postaxial polydactyly OMIM:618955
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Horizontal ribs, Short ribs, Short clavicl... OMIM:617088
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormal rib morphology ORPHA:93941
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Sacral dimple, Overlapping toe, Clinodact... OMIM:616580
Jacobsen Syndrome
Toe clinodactyly, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Short toe, Abn... ORPHA:2308
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Clinodactyly, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Colpocephaly, ... OMIM:618460
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Horseshoe kidney, Renal cyst, Metaphyseal chondrodysplasia, Hallux valgus, Brachydactyly, Short m... ORPHA:166035
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac... ORPHA:404440
Orofaciodigital Syndrome V
Postaxial foot polydactyly, Sandal gap, Horseshoe kidney, Agenesis of corpus callosum, Postaxial ... OMIM:174300
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Agenesis of corpus callosum, Talipes equinovarus, 2-3 finger syndactyly, Broad toe, ... OMIM:312870
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Overlapping fingers, Radioulnar synostosis, Short nec... ORPHA:798
Alagille Syndrome 2
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria OMIM:610205
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Renal hypoplasia/apl... ORPHA:818
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Short distal phalanx of finger, Horseshoe kidney, Renal cyst, Metaphyseal chondrodysplasia, Brach... OMIM:250410
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Renal cyst, Hepatic cysts OMIM:617874
Occipital Horn Syndrome
Platyspondyly, Pectus carinatum, Narrow chest, Broad clavicles, Broad ribs, Ureteral obstruction,... OMIM:304150
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Postaxial polydactyly, H... OMIM:614576
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Patellar aplasia, Hip contracture, Agenesis of co... ORPHA:85201
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary... ORPHA:731
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyper... OMIM:151050
Alveolar Echinococcosis
Abnormal vertebral morphology, Abnormal sternum morphology, Hepatic cysts, Abnormal bladder morph... ORPHA:284
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased body weight, Abdominal obesity OMIM:615954
Joubert Syndrome 2
Nephronophthisis, Postaxial foot polydactyly, Renal insufficiency, Encephalocele, Renal cyst, Hyd... OMIM:608091
Mend Syndrome
Broad hallux, Crossed fused renal ectopia, Overlapping fingers, Overlapping toe, Polydactyly, 2-3... OMIM:300960
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Townes-Brocks Syndrome
Abnormal vertebral morphology, Toe syndactyly, Broad thumb, Agenesis of corpus callosum, Abnormal... ORPHA:857
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Abnormal vertebral morphology, Micr... OMIM:600383
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Bowing of the lon... ORPHA:666
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal morphology of the radius, Abnor... ORPHA:249
Renal Coloboma Syndrome
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal... ORPHA:1475
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Osteogenesis Imperfecta, Type Vii
Narrow chest, Rhizomelia, Micromelia, Crumpled long bones, Multiple rib fractures, Hydronephrosis... OMIM:610682
Fryns Syndrome
Short distal phalanx of finger, Multicystic kidney dysplasia, Narrow chest, Vesicoureteral reflux... ORPHA:2059
Cranioectodermal Dysplasia 2
Narrow chest, Rhizomelia, Clinodactyly, Renal insufficiency, Horizontal ribs, Short ribs, Polydac... OMIM:613610
Orofaciodigital Syndrome Type 6
Renal agenesis, Finger clinodactyly, Preaxial polydactyly, Renal hypoplasia/aplasia, Hand polydac... ORPHA:2754
3Mc Syndrome 3
Clinodactyly, Preaxial polydactyly, Horseshoe kidney, Radioulnar synostosis, Penoscrotal hypospad... OMIM:248340
Bor Syndrome
Multicystic kidney dysplasia, Branchial cyst, Vesicoureteral reflux, Renal insufficiency, Uretero... ORPHA:107
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Butterfly vertebrae, Hydr... OMIM:265380
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased body weight, Small for gestational age OMIM:274300
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Abnormal femoral torsion, Tibial torsion, Bifid ureter, Long hallux... ORPHA:500095
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Small hand, Hip dislocation, Hydronephrosis, Postaxial polydactyly, Hip dysplasia, Short foot, Sc... OMIM:300968
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Overlapping toe, Duplicated collecting system, Holoprosencephaly, Hyp... OMIM:270400
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Agenesis of corpus callosum, Hydronephrosis, Renal cy... ORPHA:261494
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Finger syndactyly, Split hand, Abnormal rib morphology, Scoliosis ORPHA:1300
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u... ORPHA:2973
Aspergillosis
Abnormality of the vertebral column, Abnormal long bone morphology, Abnormality of the kidney, Ab... ORPHA:1163
Nabais Sa-De Vries Syndrome, Type 2
Clinodactyly of the 5th finger, Multicystic kidney dysplasia, Tapered finger OMIM:618829
Syndromic Diarrhea
Renal hypoplasia, Polycystic kidney dysplasia ORPHA:84064
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Shor... ORPHA:2750
Joubert Syndrome 1
Nephropathy, Postaxial foot polydactyly, Clinodactyly, Occipital myelomeningocele, Renal cyst, Po... OMIM:213300
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia OMIM:613730
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cyst, Renal cell carcinoma OMIM:135150
Myhre Syndrome
Abnormal penis morphology, Platyspondyly, Abnormal epiphysis morphology, Abnormal metaphysis morp... ORPHA:2588
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Broad thumb, Pseudoepiphyses of second metacarpal, Holoprosencephal... OMIM:107480
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Pectus carinatum, Single transverse palmar crease, Postaxial polydactyly, Palmoplantar hyperhidro... OMIM:617527
Hajdu-Cheney Syndrome
Pectus carinatum, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Short toe... ORPHA:955
Schinzel-Giedion Midface Retraction Syndrome
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Long clavicles, Hypospadia... OMIM:269150
Faciocardiomelic Syndrome
Narrow chest, Slender long bone, Hypoplastic pelvis, Cuboid-shaped vertebral bodies, Polydactyly OMIM:612731
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Slender long bone, Upper limb undergrowth, R... ORPHA:369837
Trisomy 18
Deviation of finger, Abnormal rib morphology, Camptodactyly of finger, Abnormal hip bone morpholo... ORPHA:3380
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Occipital encephalocele, Renal insufficiency, Hydrocep... ORPHA:1454
Congenital Sialidosis Type 2
Umbilical hernia, Hydrocephalus, Abnormality of the kidney, Polydactyly ORPHA:93400
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Small hand, Lateral ventricle dilatation, Prominent fingertip pads, Recurrent ... OMIM:615873
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Renal cyst, Renal dysplasia OMIM:614922
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Renal hypoplasia, Microphallus, Umbilical hernia, Vesicoureteral re... OMIM:618454
Caroli Syndrome
Polycystic kidney dysplasia, Abnormality of the kidney ORPHA:480520
Dextrocardia
Congenital hip dislocation, Abnormality of the ureter, Abnormal renal morphology, Hydrocephalus, ... ORPHA:1666
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Large for gestational age, Small for gestational age ORPHA:254534
Joubert Syndrome 21
Occipital encephalocele, Hyperechogenic kidneys, Bell-shaped thorax, Encephalocele, Short ribs, R... OMIM:615636
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Single transverse palmar crease, Polydactyly, Deep palmar crease, ... OMIM:247200
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Proximal renal tubular acidosis OMIM:615824
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Abn... OMIM:209900
Renal-Hepatic-Pancreatic Dysplasia 2
Femoral bowing, Hepatic cysts, Talipes equinovarus, Enlarged kidney, Cystic renal dysplasia OMIM:615415
D-Bifunctional Protein Deficiency
Thoracic hypoplasia, Talipes equinovarus, Renal cyst, Split hand, Pectus excavatum, Hammertoe OMIM:261515
Pagod Syndrome
Multicystic kidney dysplasia, Abnormal clavicle morphology, Encephalocele, Renal hypoplasia/aplas... ORPHA:991
Rubinstein-Taybi Syndrome 1
Broad thumb, Hypoplastic iliac wing, Agenesis of corpus callosum, Talipes equinovarus, Dislocated... OMIM:180849
Carpenter Syndrome 2
Pectus carinatum, Broad thumb, Preaxial polydactyly, Umbilical hernia, Cutaneous finger syndactyl... OMIM:614976
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Agenesis of corpus callosum, Renal cyst, Colpocephaly, Talipes equinovarus, Renal dysplasia OMIM:617260
Monosomy 9P
Abnormality of the vertebral column, Abnormal rib morphology, Abnormality of the tarsal bones, Ur... ORPHA:261112
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Postaxial foot polydactyly, Stage 5 chronic kidney disease, Multipl... OMIM:267010
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Unilateral renal agenesis, Dilatation of the renal pelvis, Short 5th toe, 2-4 toe cutaneous synda... ORPHA:268261
Narcolepsy 7
Obesity OMIM:614250
Retinitis Pigmentosa 74
Abnormal renal morphology, Polydactyly OMIM:616562
Adnp Syndrome
Broad thumb, Sandal gap, Broad hallux, Recurrent urinary tract infections, Umbilical hernia, Sing... ORPHA:404448
Acrocephalopolydactylous Dysplasia
Micromelia, Short neck, Postaxial hand polydactyly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst, Epiphyseal stippling OMIM:614862
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Preaxial hand polydactyly, Encephalocel... ORPHA:564
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Stromme Syndrome
Bilateral renal hypoplasia, Preaxial polydactyly, Agenesis of corpus callosum, Hydronephrosis, Hy... OMIM:243605
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly ORPHA:1297
Axial Osteomalacia
Renal cyst OMIM:109130
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Short distal phalanx of finger, Renal hypoplasia, Multiple sm... OMIM:118450
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Broad hallux, Preaxial polydactyly, Unilateral renal hypoplasia, Short r... OMIM:615948
Bardet-Biedl Syndrome 20
Preaxial foot polydactyly, Proteinuria, 2-3 toe syndactyly, Postaxial polydactyly, Postaxial hand... OMIM:619471
Charge Syndrome
Bifid femur, Umbilical hernia, Horseshoe kidney, Abnormal tibia morphology, Vesicoureteral reflux... ORPHA:138
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Agenesis of corpus callosum, Talipes equinovarus,... OMIM:618733
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary re... ORPHA:79404
C Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Micromelia, Horseshoe kidney, Clinodactyly of the 5... ORPHA:1308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Occipital encephalocele, 11 pairs of ribs, Agenesis of corpus callo... OMIM:615287
Loeys-Dietz Syndrome 1
Pectus carinatum, Abnormal sternum morphology, Spondylolisthesis, Supernumerary ribs, Arachnodact... OMIM:609192
3-Methylglutaconic Aciduria Type 7
Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria ORPHA:445038
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Displacement of the urethral mea... ORPHA:1556
Cystic Echinococcosis
Abnormality of the vertebral column, Hepatic cysts, Ovarian cyst, Renal cyst, Membranous nephropathy ORPHA:400
Structural Heart Defects And Renal Anomalies Syndrome
Renal cyst, Partial agenesis of the corpus callosum, Renal insufficiency, Overlapping toe OMIM:617478
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Long hallux, Nephroblastoma, Renal cyst, Large hands, Renal malrot... OMIM:617107
Loeys-Dietz Syndrome 2
Pectus carinatum, Joint contracture of the hand, Abnormal sternum morphology, Umbilical hernia, S... OMIM:610168
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:2907
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Hematuria, Proximal renal tubular acidosis, Hip dislocation, Aminoaciduria, Renal in... ORPHA:534
Congenital Disorder Of Glycosylation, Type Ib
Renal cyst, Proximal tubulopathy OMIM:602579
Trisomy 10P
Short toe, Thumb contracture, Abnormal hip joint morphology, Ulnar deviated club hands, Talipes e... ORPHA:171929
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease... ORPHA:18
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Recurrent urinary tract infections, Horseshoe kidney, Umbilical... ORPHA:3310
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Wilson Disease
Increased body weight, Weight loss, Failure to thrive ORPHA:905
Proteus Syndrome
Asymmetry of the thorax, Macrodactyly, Rib exostoses, Long penis, Hip dislocation, Finger syndact... ORPHA:744
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Epiphyseal stippling, Hypospadias ORPHA:912
Congenital Disorder Of Glycosylation, Type Ia
Proximal tubulopathy, Proteinuria, Renal cyst, Nephrotic syndrome, Kyphosis OMIM:212065
Degcags Syndrome
Chronic kidney disease, Renal hypoplasia, Toe syndactyly, Bilateral renal dysplasia, Bilateral re... OMIM:619488
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Vesicoureteral reflux, Renal cyst, Hip dysplasia, Clinodactyly of the 5th f... OMIM:616975
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad thumb, Abnormality of the kidney, Hypospadias, Syndactyly, Avascular necrosis of the capita... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad thumb, Abnormality of the kidney, Hypospadias, Syndactyly, Avascular necrosis of the capita... ORPHA:353277
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Abnormal form of the vertebral bodies, Umbilical hernia, Heparan su... ORPHA:581
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Block vertebrae, Occipital encephalocele, Renal agenesis, Cervical ... OMIM:164210
Distal Deletion 15Q
2-3 toe cutaneous syndactyly, Short distal phalanx of finger, Multicystic kidney dysplasia, Small... ORPHA:1596
Choanal Atresia
Polydactyly ORPHA:137914
Cornelia De Lange Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Small hand, Elbow dislocation, Bilateral single tra... ORPHA:199
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Dark urine ORPHA:79303
Peroxisome Biogenesis Disorder 1B
Renal cyst, Hyperoxaluria, Epiphyseal stippling OMIM:601539
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Methylmalonic aciduria, 3-Methylglutaconic aciduria,... ORPHA:17
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac... ORPHA:2554
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Insulinoma
Increased body weight ORPHA:97279
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Culler-Jones Syndrome
Micropenis, Postaxial polydactyly OMIM:615849
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Branchial anomaly, Agenesis of corpus callosum, Hydronephrosis, Talipes eq... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Branchial anomaly, Agenesis of corpus callosum, Hydronephrosis, Talipes eq... ORPHA:352665
Alstrom Syndrome
Nephritis, Renal insufficiency, Polydactyly, Tubulointerstitial nephritis, Scoliosis, Kyphosis OMIM:203800
Genitopatellar Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Inferior pubic ramus hypoplasia, Patell... OMIM:606170
Neurocardiofaciodigital Syndrome
Polydactyly, Vesicoureteral reflux, Lateral ventricle dilatation, Syndactyly OMIM:619869
Williams Syndrome
Genu valgum, Polycystic ovaries, Radioulnar synostosis, Renal insufficiency, Renal duplication, V... ORPHA:904
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Neopl... ORPHA:2908
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Mody
Nephropathy, Renal cyst, Glycosuria, Abnormality of the kidney ORPHA:552
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff... ORPHA:93111
Fraser Syndrome
Abnormality of the urinary system, Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeni... ORPHA:2052
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Rhizomelia, Short toe, Micromelia, Umbilical hernia... ORPHA:709
Sotos Syndrome
Increased body weight, Tall stature, Overgrowth OMIM:117550
Bardet-Biedl Syndrome
Chronic kidney disease, Fifth finger distal phalanx clinodactyly, Finger syndactyly, Horseshoe ki... ORPHA:110
Mayer-Rokitansky-Kuster-Hauser Syndrome
Multicystic kidney dysplasia, Reduced renal corticomedullary differentiation, Polycystic ovaries,... OMIM:277000
Rabson-Mendenhall Syndrome
Nephrocalcinosis, Long penis, Polydactyly ORPHA:769
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Slender finger, Small hand, Congenital hip dislocation, Overlapping toe, Hydronephrosis, Postaxia... ORPHA:480880
Combined Pituitary Hormone Deficiencies, Genetic Forms
Decreased cervical spine mobility, Polydactyly, Abnormal digit morphology, Agenesis of corpus cal... ORPHA:95494
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Absent proximal phalanx of thumb, Renal agenesis, Short thumb, Pr... OMIM:149730
Familial Adenomatous Polyposis 4
Renal cyst, Ovarian cyst OMIM:617100
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Cerebrooculonasal Syndrome
Postaxial polydactyly, Hydrocephalus, Encephalocele, Postaxial hand polydactyly OMIM:605627
Charge Syndrome
Renal hypoplasia, Bifid femur, Scoliosis, Renal agenesis, Short thumb, Umbilical hernia, Horsesho... OMIM:214800
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Hip dislocation, Renal agenesis, Ectroda... OMIM:308205
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Transketolase Deficiency
Increased level of ribose in urine, Renal cyst ORPHA:488618
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:99880
Autosomal Recessive Malignant Osteopetrosis
Narrow chest, Abnormal epiphysis morphology, Bowing of the long bones, Hydrocephalus, Abnormal ri... ORPHA:667
Parathyroid Carcinoma
Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy... ORPHA:143
Histiocytoid Cardiomyopathy
Polycystic ovaries, Renal cyst, Hydrocephalus, Agenesis of corpus callosum ORPHA:137675
Msh3-Related Attenuated Familial Adenomatous Polyposis
Renal cyst, Ovarian dermoid cyst ORPHA:480536
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Branchiooculofacial Syndrome
Renal agenesis, Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Branchial anom... OMIM:113620
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Umbilical hernia ORPHA:2241
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Nephroblastoma, Clinodactyly of the 5th finger, Holoprosencephaly, ... ORPHA:1052
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Lateral ventricle dilatation, Long hallux, Genu valgum, Agenesis of... ORPHA:261537
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Polydactyly, Hydronephrosis, Hip... ORPHA:2729
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolithiasis, Parath... OMIM:600740
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Short neck, Short foot, Hypospadias, Hip dislocation, Ren... OMIM:601803
Magel2-Related Prader-Willi-Like Syndrome
Increased body weight, Failure to thrive, Abdominal obesity ORPHA:398069
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Scoliosis, Polydactyly OMIM:301022
Microphthalmia, Syndromic 6
Renal hypoplasia, Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar ... OMIM:607932
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Dilatation of the renal pelvis, Lateral ventricle dilatation, Hyperechogenic kidneys... OMIM:619534
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased body weight, Abdominal obesity ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased body weight, Failure to thrive ORPHA:264580
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Lateral ventricle dilatation, Long hallux, Genu valgum, Agenesis of... ORPHA:261552
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Genu valgum, Agenesis of corpus callosum, Chordee, Abnormality of t... ORPHA:2152
Tuberous Sclerosis 2
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe... OMIM:613254
Lymphangioleiomyomatosis
Abnormal urinary color, Hematuria, Renal angiomyolipoma, Multiple renal cysts, Hydrocephalus, Ren... ORPHA:538
Tuberous Sclerosis 1
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst OMIM:191100
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Von Hippel-Lindau Syndrome
Epididymal cyst, Pancreatic cysts, Multiple renal cysts, Renal cell carcinoma OMIM:193300
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst... ORPHA:892
Insulin-Resistance Syndrome Type B
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight ORPHA:2298
Pearson Syndrome
Glycosuria, Renal insufficiency, Proteinuria, Renal cyst, Lacticaciduria ORPHA:699
Beckwith-Wiedemann Syndrome
Nephropathy, Umbilical hernia, Large placenta, Vesicoureteral reflux, Nephroblastoma, Nephrolithi... ORPHA:116
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Short neck, Hypospadias ORPHA:495875
Hellp Syndrome
Increased body weight ORPHA:244242
Attenuated Familial Adenomatous Polyposis
Multiple renal cysts ORPHA:220460
Cushing Disease
Increased body weight, Truncal obesity, Abdominal obesity ORPHA:96253
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Cushing Syndrome Due To Ectopic Acth Secretion
Increased body weight, Weight loss, Truncal obesity, Abdominal obesity ORPHA:99889
Carney Complex
Increased body weight, Tall stature, Abdominal obesity ORPHA:1359
Pmm2-Cdg
Platyspondyly, Kyphoscoliosis, Proteinuria, Abnormal renal tubule morphology, Multiple renal cyst... ORPHA:79318

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 Ttc21b

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 Ttc21b.

There are 6 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
MetAP2 inhibition reduces food intake and body weight in a ciliopathy mouse model of obesity. JCI insight (January 2020) Ttc21btm2c(KOMP)Wtsi PMC7098713
Aberrant Regulation of Notch3 Signaling Pathway in Polycystic Kidney Disease. Scientific reports (February 2018) Ttc21btm2c(KOMP)Wtsi PMC5820265
Ttc21b Is Required in Bergmann Glia for Proper Granule Cell Radial Migration. Journal of developmental biology (December 2017) Ttc21btm1a(KOMP)Wtsi PMC5831799
Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development. PloS one (March 2017) Ttc21btm2a(KOMP)Wtsi PMC5349613
Dysfunction of intraflagellar transport-A causes hyperphagia-induced obesity and metabolic syndrome. Disease models & mechanisms (May 2016) Ttc21btm2c(KOMP)Wtsi PMC4958314
Downregulating hedgehog signaling reduces renal cystogenic potential of mouse models. Journal of the American Society of Nephrology : JASN (April 2014) Ttc21btm2a(KOMP)Wtsi PMC4178433

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MGI Allele Allele Type Produced
Ttc21btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc21btm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ttc21btm41267(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ttc21btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ttc21btm41267(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ttc21btm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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