Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pappalysin 2
Synonyms:
placenta-specific 3,  PLAC3,  Pappe,  pregnancy-associated plasma preproprotein-A2,  PAPP-A2,  pregnancy-associated plasma protein-E

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pappa2 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 Pappa2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Microcephaly, Long toe, Lo... OMIM:619489

The table below shows human diseases predicted to be associated to Pappa2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femor... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Failure to thrive, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Malar flattening, Short 4th ... OMIM:118651
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Retrognathia, Short thumb, Micrognathia, Single t... OMIM:227270
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Arthralgia of the hip, Broa... ORPHA:1856
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly, Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short... OMIM:601438
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ... OMIM:127300
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Genu valgum, Deformed hum... ORPHA:2831
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... ORPHA:1972
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... OMIM:271700
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Short femoral neck, Pes cavus, Short humerus, Thoracic scoliosis, Talipes eq... OMIM:616716
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Lumbar h... OMIM:602471
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Short femoral neck, Knee dislocation, Obesity, Narrow vertebral interpedicular dis... OMIM:618395
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Microcephaly, Hy... OMIM:612447
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Microcephaly, Aplasia/Hypoplasia of the ulna... ORPHA:2491
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Coarse metaphyseal trabecularization, Abnormal diaphysis ... ORPHA:2779
Mietens-Weber Syndrome
Forearm undergrowth, Elbow flexion contracture, Pes planus, Dislocated radial head, Absent proxim... OMIM:249600
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski
Abnormal pelvic girdle bone morphology, Abnormal long bone morphology, Short toe, Short finger OMIM:259270
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility OMIM:276821
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Enamel hypoplasia, Hypoplasi... OMIM:212780
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Mand... ORPHA:950
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Platyspondyly, Broad femoral neck, Arthralgia of the hip, Flared femoral me... OMIM:609324
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Talipes, Hypopl... ORPHA:2249
Rhizomelic Chondrodysplasia Punctata, Type 2
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Stippled calcification pro... OMIM:222765
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Shox-Related Short Stature
Obesity, Genu valgum, Micrognathia, Tibial bowing, Ulnar radial head dislocation, Lower limb unde... ORPHA:314795
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Hyperconve... OMIM:184255
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral... ORPHA:1802
Autosomal Dominant Omodysplasia
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Malar flattening, Short humeru... ORPHA:93328
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Micrognathia, Malar flattening, Decreased body weight, Hypoplasia of the ulna ORPHA:357175
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Abnormal epiphysis morphology, Scoliosis, Bowing of the long bones, Metaphyseal ch... ORPHA:2501
Mietens Syndrome
Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Talipes, Microcephaly, El... ORPHA:2557
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Micrognathia, Malar flattening, Decreased body weight, Hypoplasia of the ulna OMIM:615162
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Talipes, Talipes equinovarus, Ap... OMIM:108720
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Hypoplasia of the... ORPHA:2256
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Omodysplasia 2
Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro... OMIM:164745
Kyphomelic Dysplasia
Platyspondyly, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humerus, Micrognathi... OMIM:211350
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de... ORPHA:1570
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Retrognathia, Short toe, Oli... ORPHA:2756
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
3M Syndrome
Congenital hip dislocation, Rocker bottom foot, Scoliosis, Slender long bone, Delayed eruption of... ORPHA:2616
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e... ORPHA:174
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Relative macrocephaly, Short first metatarsal, Epiphyseal stippling, Microg... OMIM:619135
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb, Micromelia, Abnormal ... ORPHA:3258
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Platyspondyly, Vertebral wedging, Hypoplasia of the capital femoral epiphys... OMIM:617719
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Limited elbow flexion, Hypoplasia of the femoral head, Talipes equinovarus,... OMIM:226900
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Fibular aplasia, Micrognathia, Ta... ORPHA:56305
Metaphyseal Dysplasia Without Hypotrichosis
Abnormal pelvic girdle bone morphology, Metaphyseal cupping of metacarpals, Cone-shaped epiphyses... OMIM:250460
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Platyspondyly, Abnormal foot morphology, U... ORPHA:94068
Achondroplasia
Rhizomelia, Radial bowing, Flared metaphysis, Lumbar hyperlordosis, Femoral bowing, Trident hand,... OMIM:100800
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Abnormal form of the vertebral bodies, Micrognathia, Abnormal morphology of ulna,... ORPHA:3104
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Kyphosis, Failure to thrive, Short 4th toe, Short humerus, Brachydactyly, S... ORPHA:420794
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal scler... OMIM:609052
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal form of the vertebral bod... ORPHA:429
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog... ORPHA:3344
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Microcephaly, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Micrognath... ORPHA:56304
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... ORPHA:3320
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Kyphosis, Finger syndactyly, Hypoplasia of the zygomatic bone, Rudimentary ... ORPHA:958
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Spl... OMIM:614480
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the rad... ORPHA:246
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Short tibia, Failure to thrive, Sandal gap, Butterfly vertebrae, Short humerus, Short... OMIM:607143
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra... OMIM:156500
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia ORPHA:2252
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Ethanolaminosis
Cardiomegaly OMIM:227150
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly OMIM:619175
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Postnatal ... OMIM:232700
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Cleft mandible, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminen... OMIM:268305
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Platyspondyly, Hump-shaped mound of bone in central and posterior portion... ORPHA:99642
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Aase-Smith Syndrome
Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp... ORPHA:916
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral met... OMIM:184253
Codas Syndrome
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Scoliosis, Dela... OMIM:600373
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
W Syndrome
Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia... ORPHA:2804
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal s... ORPHA:1860
Atelosteogenesis, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Cervical kyphosis, Dumbbell-shaped femur, ... OMIM:256050
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal... ORPHA:2631
Atelosteogenesis Type I
Platyspondyly, Rhizomelia, Absent or minimally ossified vertebral bodies, Micrognathia, Talipes e... ORPHA:1190
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing,... OMIM:620076
Hypochondroplasia
Flared metaphysis, Macrocephaly, Lumbar hyperlordosis, Trident hand, Malar flattening, Aplasia/hy... OMIM:146000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Microcephaly, Hypoplasia of the ulna, Absent radiu... ORPHA:1352
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Radioulnar synostosis, Hypoplasia of the... OMIM:614900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Delayed eruption of teeth, Failure to thriv... OMIM:309350
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... OMIM:164900
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan... OMIM:618363
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os... ORPHA:93356
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Platyspondyly, Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Microceph... OMIM:616897
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Synostosis of carpal bo... ORPHA:1106
Mulibrey Nanism
Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Weismann-Netter Syndrome
Fibular bowing, Lateral femoral bowing, Squared iliac bones, Scoliosis, Delayed eruption of perma... OMIM:112350
Osteogenesis Imperfecta, Type X
Platyspondyly, Dentinogenesis imperfecta, Rhizomelia, Micromelia, Relative macrocephaly, Genu val... OMIM:613848
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal... OMIM:108721
Acromesomelic Dysplasia 1
Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ... OMIM:602875
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Acromesomelic Dysplasia, Hunter-Thompson Type
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, E... ORPHA:968
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal hip bone morpho... ORPHA:1837
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Supernumerary vertebrae, Abnormal foot morphology, Micro... OMIM:263750
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Paget Disease Of Bone 5, Juvenile-Onset
Failure to thrive, Short humerus, Lateral femoral bowing, Bowing of the long bones, Macrocephaly,... OMIM:239000
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Broad femoral neck, Irregular epiphyses, A... OMIM:132400
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Rhizomelia, Metaphyseal cupping, Radial bowing, Flared meta... OMIM:602111
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
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... ORPHA:971
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula, Elbow fle... OMIM:200980
Distal Duplication 5Q
Carious teeth, Absent thumb, Micrognathia, Microcephaly, Hypoplasia of the radius, Brachydactyly,... ORPHA:96097
Multiple Epiphyseal Dysplasia, Beighton Type
Genu valgum, Reduced proximal interphalangeal joint space, Pedal edema, Biconcave vertebral bodie... ORPHA:166011
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Abnormal metacarpa... ORPHA:2370
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Distal Arthrogryposis Type 1
Ulnar deviation of finger, Camptodactyly of finger, Abnormal hip bone morphology, Overlapping fin... ORPHA:1146
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar ... ORPHA:2319
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Abnormal hand morphology, Dislocation of the femor... ORPHA:93307
Stuve-Wiedemann Syndrome 1
Carious teeth, Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bo... OMIM:601559
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Narrow vertebral inte... OMIM:143095
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Scoliosis, Amelia, Short femur OMIM:601357
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Fail... ORPHA:356961
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Abnormal ilium morphology, Irregular iliac crest, Scoliosis, Short iliac bones, Ab... ORPHA:93316
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Hypoplastic iliac wing, Brachydactyly, Hip d... ORPHA:1858
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Microcephaly, Bra... OMIM:617604
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Sandwich appearance of vertebral bodies, Femoral bowing, Osteosclero... OMIM:602080
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Br... OMIM:223800
Alagille Syndrome
Short distal phalanx of finger, Failure to thrive, Abnormal form of the vertebral bodies, Microgn... ORPHA:52
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Van Den Ende-Gupta Syndrome
Long metacarpals, Hypoplastic scapulae, Joint contracture of the hand, Long hallux, Micrognathia,... OMIM:600920
Progressive Pseudorheumatoid Arthropathy Of Childhood
Abnormal ilium morphology, Joint contracture of the hand, Genu valgum, Beaking of vertebral bodie... ORPHA:1159
Autosomal Recessive Omodysplasia
Rhizomelia, Micromelia, Elbow dislocation, Micrognathia, Abnormal femur morphology, Abnormal morp... ORPHA:93329
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Ovoid vertebral bodies, Cu... OMIM:617396
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Short iliac bones, Flattened proximal radial epiphyses, Squared-off platyspondyly,... OMIM:271530
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Omodysplasia 1
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Micrognathia, Lim... OMIM:258315
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Dysostosis Multiplex, Ain-Naz Type
Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Hemiverte... OMIM:619345
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypoplasia of the radius OMIM:179250
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice, Short stature ORPHA:172
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Abnormal form of the v... ORPHA:3098
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Short humerus, Hand polydactyly, Absent radius, Proximal placement... OMIM:314390
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowin... OMIM:608728
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv... OMIM:268310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Natal tooth, Short tibia, Preaxial polyd... OMIM:616300
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb ... ORPHA:93351
Orofaciodigital Syndrome Ix
Toe syndactyly, Short tibia, Microcephaly, Hand polydactyly, Camptodactyly OMIM:258865
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Wolman Disease
Hepatomegaly, Splenomegaly, Failure to thrive, Acute hepatic failure OMIM:620151
Cholestasis, Progressive Familial Intrahepatic, 10
Portal fibrosis, Failure to thrive, Elevated circulating aspartate aminotransferase concentration... OMIM:619868
Holt-Oram Syndrome
Short forearm, Hypoplastic scapulae, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... ORPHA:2633
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence OMIM:179270
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... ORPHA:1836
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis, Early ossification of capital fe... OMIM:208500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie... OMIM:618019
Thoracomelic Dysplasia
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Limb undergro... ORPHA:1803
Seckel Syndrome 1
Ivory epiphyses, Dental malocclusion, Sandal gap, Hypoplasia of proximal radius, Elbow flexion co... OMIM:210600
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Abno... OMIM:184252
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Craniometaphyseal Dysplasia, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femurs, Flared metaphys... OMIM:123000
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Square pelvis bone, Delayed erup... ORPHA:166272
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Eiken Syndrome
Delayed epiphyseal ossification, Broad femoral neck, Eruption failure, Clinodactyly, Long hallux,... OMIM:600002
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Vertebral wedgi... OMIM:610967
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Congenital Bile Acid Synthesis Defect Type 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Neonatal cholestatic ... ORPHA:79301
Orofaciodigital Syndrome Vi
Toe syndactyly, Failure to thrive, Clinodactyly, Preaxial hand polydactyly, Radial deviation of f... OMIM:277170
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Pes planus, Medi... OMIM:251450
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Large for gestational age, Ankle clonus, Hypoplasia of the ulna, Macrocephaly, Scoliosis OMIM:615398
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate... OMIM:620010
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Symphalangism of the thumb, Short toe, Failure to thrive, Clinodactyly, Broad hallux, Kyphoscolio... OMIM:620494
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra... OMIM:210710
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru... OMIM:134780
Postaxial Oligodactyly, Tetramelic
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... OMIM:176240
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Rothmund-Thomson Syndrome
Carious teeth, Aplasia/Hypoplasia of the radius, Delayed eruption of teeth, Short thumb, Abnormal... ORPHA:2909
Dyggve-Melchior-Clausen Disease
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Beaking of vertebral bodie... ORPHA:239
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Short toe, Ulnar deviation of the 2nd finger, Genu valgum, Micro... OMIM:616145
Kuskokwim Syndrome
Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of th... ORPHA:1149
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ... OMIM:609981
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Platyspondyly, Dumbbell-shaped femur, Sandal... ORPHA:1427
Orofaciodigital Syndrome Type 2
Natal tooth, Short tibia, Finger syndactyly, Micrognathia, Broad first metatarsal, Cone-shaped ep... ORPHA:2751
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc... OMIM:603902
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Vertebral segmentation defect, Missing ribs, Aplasia/Hypoplasia of the thumb, M... ORPHA:3186
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Microg... ORPHA:1147
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega... OMIM:237800
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Erythroleukemia, Familial, Susceptibility To
Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ... OMIM:133180
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Ascites, I... ORPHA:858
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Steinfeld Syndrome
Abnormal vertebral morphology, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the r... OMIM:184705
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Retrognathia, Elbow flexion contracture, Hypoplastic pelvis, ... OMIM:618022
Nager Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia of the zygomatic bone, Mi... ORPHA:245
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... OMIM:620135
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Thoracolumbar scoliosis, Beakin... ORPHA:457395
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen... OMIM:617068
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia of the... OMIM:617895
Microphthalmia With Limb Anomalies
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... OMIM:206920
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Carious teeth, Elbow flexion contracture, 11 pairs of ribs, Micrognat... OMIM:117650
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Abnormal form of the vertebral bodies, Camptodactyly of... ORPHA:2839
Ulbright-Hodes Syndrome
Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis, Short h... ORPHA:3404
Mesomelia-Synostoses Syndrome
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Micromelia, Abno... ORPHA:2496
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Micrognathia, Small... ORPHA:96334
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Rhizomelic arm shortening, Short humerus, Brachydactyly, Short metacarpal ORPHA:508542
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Anemia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:100024
Anemia, Congenital Dyserythropoietic, Type Ib
Growth delay, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:615631
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Rhizomelia, Clinodactyly, Short toe, Radial deviation of finger, ... OMIM:218330
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Micrognathia, Tibial bowing, Abnormality of the lower limb, Bowing of the long bon... ORPHA:3035
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... ORPHA:2928
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Cone-shaped epiphys... OMIM:210720
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Failure to thrive, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepa... OMIM:601847
Baller-Gerold Syndrome
Abnormal vertebral morphology, Radial deviation of the hand, Absent thumb, Patellar hypoplasia, C... OMIM:218600
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Platyspondyly, Fibular overgrowth, Micromelia, Short femoral nec... OMIM:602557
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis OMIM:610293
Kniest Dysplasia
Delayed epiphyseal ossification, Platyspondyly, Rhizomelia, Dumbbell-shaped femur, Flared metaphy... OMIM:156550
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Ovoid vertebral ... OMIM:151210
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Fanconi Anemia, Complementation Group U
Absent thumb, Microcephaly, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of ... OMIM:617247
Satoyoshi Syndrome
Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal femur morphology, Abnormali... ORPHA:3130
Occipital Horn Syndrome
Platyspondyly, Genu valgum, Limited elbow extension, Short humerus, Short clavicles, Limited knee... OMIM:304150
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Micrognathia, Genu valgum, Abnormal metacarpal morphology, H... ORPHA:1452
Orofaciodigital Syndrome X
Finger aplasia, Retrognathia, Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal b... OMIM:165590
Fanconi Anemia, Complementation Group W
Microcephaly, Absent thumb, Hypoplasia of the radius, Abnormal radial ray morphology OMIM:617784
Thoracolaryngopelvic Dysplasia
Slender build, Hypoplastic iliac wing, Hypoplastic pelvis, Short ribs, Metaphyseal widening, Narr... OMIM:187760
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Slender long bone, Macrocephaly ORPHA:1506
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bone OMIM:619479
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Preaxial polydactyly, Micrognathia, Fibular hypoplasia, Short ribs, Pos... OMIM:617925
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly... ORPHA:84
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar eminence, Proximal placement of... OMIM:613390
Multiple Osteochondromas
Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the long bones, Abnor... ORPHA:321
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology... ORPHA:1458
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Microcephaly, Tapered finger, Short humerus, Short femur OMIM:618367
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp... ORPHA:2502
Czech Dysplasia
Platyspondyly, Short toe, Flat capital femoral epiphysis, Irregular vertebral endplates, Narrow i... OMIM:609162
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Bulging epiphyses, Rickets of the lower limbs, Genu valgum, Fibu... OMIM:600785
Neurodegeneration And Seizures Due To Copper Transport Defect
Talipes equinovarus, Short tibia, Short femur OMIM:620306
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Dysplasia of the femora... ORPHA:93284
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Short humerus, Polydactyly, Microcephaly, Short femur ORPHA:17
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Talipes equinovarus, Radioulnar syno... OMIM:154400
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius OMIM:602200
Intellectual Developmental Disorder, Autosomal Dominant 53
Macrocephaly, Genu valgum, Microcephaly, Short femur OMIM:617798
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormal femur morphology, Micromelia, Hip dislocation ORPHA:1508
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Rhizomelia, Metaphyseal cupping, Dental malocclusion, Scoliosis, Flared metaphysis... OMIM:608940
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Micrognathia, Microcephaly, Hypoplasia of the radius OMIM:613951
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing,... OMIM:616723
Saul-Wilson Syndrome
Platyspondyly, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hypoplasia of ... OMIM:618150
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Abnormal form of the vertebral bodies, Malar ... ORPHA:3144
Wiedemann-Rautenstrauch Syndrome
Hypoplastic facial bones, Hypoplastic ilia, Natal tooth, Failure to thrive, Delayed eruption of t... OMIM:264090
Campomelic Dysplasia
Small abnormally formed scapulae, Kyphosis, Macrocephaly, 11 pairs of ribs, Micrognathia, Femoral... ORPHA:140
Al-Gazali Syndrome
Broad distal phalanx of finger, Failure to thrive, Micrognathia, Bowed humerus, Wrist flexion con... OMIM:609465
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Radio-Renal Syndrome
Micromelia, Retrognathia, Abnormal form of the vertebral bodies, Micrognathia, Hypoplasia of the ... ORPHA:3015
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Trapezoidal distal femoral ... OMIM:307800
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Camptodactyly of finger, Obesity, Absent hand, Abnormality of the... ORPHA:3138
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphol... ORPHA:1323
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal dental enamel morphol... ORPHA:1133
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta... OMIM:616278
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Mic... OMIM:260660
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Microcephaly, Aplasi... ORPHA:85165
Harrod Syndrome
Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abnormal shoulder... ORPHA:2115
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Aplasia/Hypoplasia of the radius, Abnormality of th... ORPHA:1307
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Fibrochondrogenesis 1
Hypoplastic ischia, Platyspondyly, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contractur... OMIM:228520
Wolman Disease
Hepatic failure, Ascites, Splenomegaly, Cachexia, Anemia, Hepatomegaly, Bone-marrow foam cells, G... ORPHA:75233
Fanconi Anemia, Complementation Group I
Absent thumb, Short thumb, Short 1st metacarpal, Decreased body weight, Microcephaly, Hypoplasia ... OMIM:609053
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodi... OMIM:211600
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Camurati-Engelmann Disease
Carious teeth, Abnormal tibia morphology, Slender build, Genu valgum, Cachexia, Pes planus, Metap... ORPHA:1328
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Down-sl... ORPHA:392
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, Talipes equinovarus,... OMIM:272460
Hyperparathyroidism, Transient Neonatal
Fractured rib, Metaphyseal spurs, Femoral bowing, Short ribs, Short long bone, Short femur OMIM:618188
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Grant Syndrome
Bowing of the long bones, Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morpholog... ORPHA:2097
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Hyperplasia of the maxilla, Micrognathia, Abnormal metacarpal morphology, Absent ra... OMIM:268300
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Rhizomelia, Microretrognathia, Bowing of the long bones, Angulated humerus, Short ... OMIM:616229
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... ORPHA:3103
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydact... OMIM:263520
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Wide distal femoral metaphysis, Femoral bowing, Wide pu... OMIM:614856
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:235555
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Osteopetrosis, Autosomal Dominant 2
Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures of the long bones, Ab... OMIM:166600
Osteopetrosis, Autosomal Dominant 1
Thickened cortex of long bones, Abnormal pelvic girdle bone morphology, Mandibular pain, Calvaria... OMIM:607634
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna OMIM:276822
Brachyolmia Type 3
Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit... OMIM:113500
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... ORPHA:93357
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi... OMIM:602347
Geroderma Osteodysplasticum
Platyspondyly, Hypoplasia of the maxilla, Femoral bowing, Malar flattening, Tibial bowing, Biconc... OMIM:231070
Occipital Horn Syndrome
Humerus varus, Genu valgum, Pes planus, Abnormal fibula morphology, Short palm, Hip dislocation, ... ORPHA:198
8Q24.3 Microdeletion Syndrome
Secondary microcephaly, Talipes, Pes planus, Short hallux, Short 5th finger, Long fingers, Clinod... ORPHA:508488
Boomerang Dysplasia
Absent radius, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Thin metacarpal cortices, Kyphoscoliosis, Bowed humerus... OMIM:616507
Tibial Hemimelia
Absent tibia OMIM:275220
Tarp Syndrome
Failure to thrive, Clinodactyly, Micrognathia, Single transverse palmar crease, Postaxial polydac... OMIM:311900
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb unde... OMIM:166210
Wiedemann-Rautenstrauch Syndrome
Hypoplastic ilia, Natal tooth, Failure to thrive, Retrognathia, Camptodactyly of finger, Slender ... ORPHA:3455
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Failure to thrive, Hepatiti... OMIM:613812
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Carious teeth, Failure of eruption of permanent teeth, Bifid femur, Abnormal f... ORPHA:2769
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Carious teeth, Delayed eruption o... OMIM:277440
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Carious teeth, Short thumb, Broad hallux, Preaxial polydactyly, R... OMIM:149730
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Mesomelia-Synostoses Syndrome
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Abnormal vertebr... OMIM:600383
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Slender long bone, Micrognathia, Tibial bowing, Biconcave vertebral bo... OMIM:259420
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Mild postnatal growth retardation, Sp... OMIM:224120
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Broad distal phalanx of finger, Delayed eruption of teeth, Micrognathia, Talipes, Talipes equinov... OMIM:300990
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci... OMIM:617394
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture... ORPHA:93315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Micrognathia, Genu valgum, Decreased body... OMIM:271640
Campomelic Dysplasia
Delayed epiphyseal ossification, Hypoplastic scapulae, Carious teeth, Hypoplastic cervical verteb... OMIM:114290
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy ORPHA:85447
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Broad long bones, Abnormal shoulder morpholog... ORPHA:1422
Budd-Chiari Syndrome
Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h... ORPHA:131
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Intrauterine growth retardation, Abnormal tricuspid valve annulus morp... ORPHA:555874
Intellectual Disability, Buenos-Aires Type
Abnormal pelvic girdle bone morphology, Cuboid-shaped thoracolumbar vertebral bodies, Dental malo... ORPHA:3079
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi... OMIM:266200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, He... OMIM:600649
Meier-Gorlin Syndrome 1
Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndactyly, Microg... OMIM:224690
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Dentinogenesis imperfecta, Kyphosis, Radial bowing, Slender long bone, Femoral bow... OMIM:610915
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Bifid thoracic vertebrae, Hypoplastic coccygeal vertebrae, Absent thumb, Failur... OMIM:105650
Vacterl With Hydrocephalus
Absence of the sacrum, Retrognathia, Abnormal form of the vertebral bodies, Micrognathia, Hypopla... ORPHA:3412
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Failure to thrive, Short thumb, Carpal synostosis, Preaxial polydacty... ORPHA:90652
Congenitally Uncorrected Transposition Of The Great Arteries
Failure to thrive, Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal... ORPHA:860
Chondrodysplasia Punctata 2, X-Linked Dominant
Abnormal pelvic girdle bone morphology, Rhizomelia, Failure to thrive, Hemiatrophy, Stippled calc... OMIM:302960
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Deformed humerus, Micrognathia, Mandibular condyle hypoplasia, Disl... ORPHA:2975
Alagille Syndrome 1
Short distal phalanx of finger, Failure to thrive, Butterfly vertebral arch, Hypoplasia of the ul... OMIM:118450
Craniosynostosis With Fibular Aplasia
Fibular aplasia, Single transverse palmar crease OMIM:218550
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma... ORPHA:615
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Charge Syndrome
Bifid femur, Short thumb, Micrognathia, Malar flattening, Down-sloping shoulders, Microcephaly, H... OMIM:214800
Fanconi Anemia, Complementation Group F
Absent thumb, Failure to thrive, Short thumb, Microcephaly, 2-3 finger syndactyly, Hypoplasia of ... OMIM:603467
Fanconi Anemia, Complementation Group N
Absent thumb, Short thumb, Microcephaly, Hypoplasia of the radius, Small for gestational age OMIM:610832
Mosaic Trisomy 16
Craniofacial asymmetry, Short forearm, Clinodactyly, Short thumb, Single transverse palmar crease... ORPHA:1708
Duane Retraction Syndrome
Abnormal form of the vertebral bodies, Preaxial hand polydactyly, Micrognathia, Talipes equinovar... ORPHA:233
Tarp Syndrome
Finger syndactyly, Failure to thrive, Clinodactyly, Hypoplasia of proximal radius, Micrognathia, ... ORPHA:2886
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... ORPHA:175
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Absent Radius-Anogenital Anomalies Syndrome
Oligodactyly, Hypoplasia of the radius, Ectrodactyly ORPHA:3016
Cartilage-Hair Hypoplasia
Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, Metaphyseal cupping, ... OMIM:250250
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... ORPHA:30391
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Microcephaly, Long toe, Lo... OMIM:619489
Kinsship Syndrome
Failure to thrive, Micrognathia, Single transverse palmar crease, Fibular hypoplasia, Polydactyly... OMIM:619297
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Dental malocclusion, Deviation of finger, Facial palsy se... OMIM:269500
Caffey Disease
Periosteal thickening of long tubular bones, Tibial bowing, Bowing of the legs OMIM:114000
Cornelia De Lange Syndrome 1
Finger aplasia, Micromelia, Delayed eruption of teeth, Hypoplastic radial head, Elbow flexion con... OMIM:122470
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Hypoplasia ... OMIM:101400
Hydrolethalus Syndrome 1
Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Talipes equinovarus, Duplication... OMIM:236680
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morphology, Large h... ORPHA:2636
Osteopathia Striata With Cranial Sclerosis
Thoracolumbar kyphosis, Joint contracture of the hand, Natal tooth, Failure to thrive, Craniofaci... OMIM:300373
Radial Aplasia, X-Linked
Absent radius OMIM:312190
Radial-Renal Syndrome
Absent thumb, Absent radius OMIM:179280
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Otopalatodigital Syndrome, Type Ii
Toe syndactyly, Broad thumb, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona... OMIM:185000
Axial Mesodermal Dysplasia Spectrum
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Micrognathia, Vert... ORPHA:1834
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Preaxial foot polydactyly, Patellar hypoplasia ORPHA:1827
Poland Syndrome
Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb... ORPHA:2911
Ciliary Dyskinesia, Primary, 53
Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly... OMIM:620642
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Retrognathia, Failure to thrive, Finger syndactyly, Preaxial han... ORPHA:2753
Gaucher Disease, Type Iiic
Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val... OMIM:231005
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Autosomal Recessive Hypophosphatemic Rickets
Lower limb asymmetry, Delayed eruption of teeth, Rickets of the lower limbs, Distal femoral bowin... ORPHA:289176
Vater/Vacterl Association
Abnormal vertebral morphology, Failure to thrive, Short thumb, Preaxial polydactyly, Radioulnar s... OMIM:192350
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Small hand, Hypoplasia of proximal radius, Obesity, Micrognathia, ... ORPHA:444077
Caudal Regression Syndrome
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the sacrum, Missing ribs, Talipes e... ORPHA:3027
Lacrimoauriculodentodigital Syndrome
Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Absent thumb, Abnormal dental ena... ORPHA:2363
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone... ORPHA:289
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clinodactyly of the 5th finger, Toe syndactyly, Hypoplasia of the radius ORPHA:140952
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Platyspondyly, Growth arrest lines, Abnormal pelvic girdle bone morphology, Failure to thrive, Si... OMIM:102700
Peters-Plus Syndrome
Square pelvis bone, Micrognathia, Broad foot, Decreased body weight, Limited elbow movement, Shor... OMIM:261540
Double Outlet Left Ventricle
Failure to thrive, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary v... ORPHA:3427
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Branchiooculofacial Syndrome
Short thumb, Preaxial hand polydactyly, Elbow flexion contracture, Micrognathia, Malar flattening... OMIM:113620
Bladder Exstrophy And Epispadias Complex
Abnormal pelvic girdle bone morphology OMIM:600057

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 Pappa2

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 Pappa2.

No publications found that use IMPC mice or data for Pappa2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pappa2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pappa2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Pappa2em1(IMPC)Ccpcz Exon Deletion Mice

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