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Gene: Pappa2 MGI:3051647

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

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 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
Decreased fibular diameter, Arachnodactyly, Microcephaly, Delayed eruption of teeth, Long fingers... OMIM:619489

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplasia of the radius, Cone-shaped epiphys... OMIM:607778
Rhizomelic Dysplasia, Ain-Naz Type
Short femur, Short humerus, Hypoplasia of the femoral head, Short femoral neck, Wide distal femor... OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3
Failure to thrive, Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Langer Mesomelic Dysplasia
Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Micrognathia, Broad ulna, Short ti... OMIM:249700
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Malar flattening, Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd meta... OMIM:118651
Acromesomelic Dysplasia 2A
Short femur, Hypoplasia of the radius, Short tibia, Short humerus, Aplasia/Hypoplasia of the pate... OMIM:200700
Faciocardiomelic Dysplasia, Lethal
Small for gestational age, Retrognathia, Micrognathia, Hypoplasia of the radius, Short 5th finger... OMIM:227270
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Brachydactyly Type A1
Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h... ORPHA:93388
Multiple Epiphyseal Dysplasia With Robin Phenotype
Dislocated radial head, Coxa vara, Talipes equinovarus, Flat capital femoral epiphysis, Short fem... OMIM:601560
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Platyspondyly, Rhizomelia, Short... OMIM:601438
Rhizomelic Dysplasia, Patterson-Lowry Type
Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b... ORPHA:2831
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Humerus varus, Hypoplasia of the ulna, Flared femoral metaphysis... ORPHA:85188
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Lytic defects of humeral diaphysis, Absent os... OMIM:601376
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Femur-Fibula-Ulna Complex
Abnormality of femur morphology, Abnormal morphology of ulna, Short humerus, Micromelia, Abnormal... ORPHA:2019
Metaphyseal Acroscyphodysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Biconcave vertebra... OMIM:250215
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Short 5th finger, Bil... ORPHA:1972
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Shortening of all proximal pha... OMIM:271700
Rhizomelic Chondrodysplasia Punctata, Type 2
Irregular vertebral endplates, Failure to thrive, Micrognathia, Microcephaly, Short humerus, Scol... OMIM:222765
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... ORPHA:240
Syndactyly Type 4
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal irregularity, Coxa vara, Metaphyseal cupping, Talipes equinovarus, Thoracic scoliosis... OMIM:616716
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Malar flattening, Aplasia/Hypoplasia of the ... ORPHA:52056
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Hypoplastic ... OMIM:304950
Ulnar Hypoplasia
Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad... OMIM:191440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Coarse metaphyseal trabec... ORPHA:2779
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Aplasia/Hypoplasia of the ulna, Microcephaly, Short humerus, Micromelia, Abnormality of the elbow... ORPHA:2491
Acheiropody
Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... OMIM:200500
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Absent thumb, Short femur, Short tibia, Microcephaly, Hypoplasia of the ulna, Aplasia/Hypoplasia ... OMIM:612447
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot OMIM:314360
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Malar flattening, Mesomelic arm short... OMIM:171480
Mental Retardation Syndrome, Mietens-Weber Type
Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim... OMIM:249600
Omodysplasia 2
Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e... OMIM:164745
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Hypoplasia of the radius, Short tibia, Pseudoarthrosis OMIM:156230
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Hypopla... ORPHA:75508
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Talipes equinovarus, Limited elbow movement, Limitation of knee mobility OMIM:276821
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Acheiropodia
Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho... ORPHA:931
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna OMIM:212780
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy... OMIM:147891
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot ORPHA:1122
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo... OMIM:609324
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol... ORPHA:2634
Ulnar/Fibular Ray Defect And Brachydactyly
Malar flattening, Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower lim... OMIM:608571
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ... ORPHA:1986
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Craniofacial hyperostosis, Abnormal form of the vertebral bodies... ORPHA:1802
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of finger, Hypoplasia... ORPHA:2249
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Decreased body weight, Malar flattening, Micrognathia, Hypoplasia of the ulna, Clinodactyly ORPHA:357175
Metaphyseal Chondrodysplasia, Spahr Type
Metaphyseal dysplasia, Scoliosis, Genu varum, Short lower limbs, Carious teeth, Hyperlordosis, Ab... ORPHA:2501
Autosomal Dominant Omodysplasia
Malar flattening, Micrognathia, Short 1st metacarpal, Short humerus, Rhizomelia, Short palm, Pate... ORPHA:93328
Arms, Malformation Of
Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis OMIM:107900
Acromesomelic Dysplasia, Grebe Type
Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Brachydactyly, Micromelia, S... ORPHA:2098
Spondylometaphyseal Dysplasia, Corner Fracture Type
Coxa vara, Metaphyseal irregularity, Scoliosis, Short femoral neck, Genu varum, Hyperconvex verte... OMIM:184255
Holt-Oram Syndrome
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Absent thumb, Hypoplasia of the radius,... OMIM:142900
Shox-Related Short Stature
Forearm undergrowth, Tibial bowing, Micrognathia, Scoliosis, Genu valgum, Cubitus valgus, Short f... ORPHA:314795
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Intellectual Developmental Disorder, Autosomal Recessive 35
Decreased body weight, Malar flattening, Micrognathia, Hypoplasia of the ulna, Clinodactyly OMIM:615162
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Acrodysostosis
Short toe, Abnormal morphology of ulna, Hypoplasia of the radius, Cone-shaped epiphysis, Micromel... ORPHA:950
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Short ribs, Short humerus, Scoliosis, Short femoral neck, Biconcave vertebral bo... OMIM:610319
Mietens Syndrome
Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplasia of the radius,... ORPHA:2557
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ... ORPHA:2141
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat... OMIM:228930
Fibular Hemimelia
Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnormality of fibula mor... ORPHA:93323
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Dislocated radial head, Talipes equinovarus, Malar flattening, Micrognathia, Short humerus, Delay... OMIM:602471
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Butterfly vertebrae, Talipes equinovarus, Short femur, Hypoplasia of the radiu... OMIM:607143
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Femoral-Facial Syndrome
Vertebral segmentation defect, Coxa vara, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, S... ORPHA:1988
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, 11 pairs of ribs, Rhizomelia, Multinucleated giant chondrocytes i... OMIM:108720
Symbrachydactyly Of Hands And Feet
Abnormality of the humeroulnar joint, Vertebral segmentation defect, Abnormal morphology of ulna,... ORPHA:1570
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Aplasia/Hypoplasia of the fibula, Aplasia of the proximal phalanges of the hand, Hy... ORPHA:2256
Orofaciodigital Syndrome Type 10
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Retrognathia, Micrognathia, P... ORPHA:2756
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Hypoplasia of the ulna, Micrognathia, Mesomelia, Syndactyly OMIM:228940
Kyphomelic Dysplasia
Tibial bowing, Radial bowing, Talipes equinovarus, Short femur, Micrognathia, Femoral bowing, Sho... OMIM:211350
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... ORPHA:3269
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Short tibia, Talipes equinovalgus, Mesomelia, Abnormal foot morphology, H... OMIM:605274
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph... ORPHA:174
Mesomelic Dysplasia, Savarirayan Type
Hypoplasia of proximal radius, Flared radial metaphysis, High iliac wing, Metatarsus valgus, Glen... ORPHA:85170
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Tibial bowing, Hand oligodactyly, Short tibia, Abnormality of the hand, Syndactyly, Foot oligodac... OMIM:246570
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Shortening of all distal phalanges of the fingers, Micrognathia, Short 1st... OMIM:619135
3M Syndrome
Kyphosis, Increased vertebral height, Clinodactyly of the 5th finger, Congenital hip dislocation,... ORPHA:2616
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Flat capital femoral epiphysis, Talipes equinovarus, Brachydactyly, Hypopla... OMIM:226900
Dyschondrosteosis And Nephritis
Radial bowing, Short tibia, Madelung deformity, Ulnar bowing, Short forearm OMIM:127350
Acromesomelic Dysplasia 3
Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Short 1st metac... OMIM:609441
Atelosteogenesis Type Iii
Abnormality of the humerus, Patellar dislocation, Hand clenching, Elbow dislocation, Talipes equi... ORPHA:56305
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Upper limb phocomelia, Radial club hand, Short humerus, Hypoplasia of the ulna, Abn... ORPHA:2878
Cenani-Lenz Syndrome
Finger syndactyly, Malar flattening, Hypoplasia of the radius, Micromelia, Synostosis of carpal b... ORPHA:3258
Hypochondroplasia
Abnormality of femur morphology, Short toe, Macrocephaly, Micromelia, Brachydactyly, Genu varum, ... ORPHA:429
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn... ORPHA:3104
Spondylometaphyseal Dysplasia, Type A4
Sclerotic humeral metaphysis, Metaphyseal irregularity, Broad ischia, Narrow greater sciatic notc... OMIM:609052
Spondyloepiphyseal Dysplasia Congenita
Kyphosis, Lumbar hyperlordosis, Dysplasia of the femoral head, Short femur, Abnormally ossified v... ORPHA:94068
Metaphyseal Anadysplasia
Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypoplasia of the radi... ORPHA:1040
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Micrognathia, Metaphyseal widening, Femoral bowing, Brachydactyly, Micromelia, Hypop... ORPHA:440354
Ivic Syndrome
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... OMIM:147750
Pelviscapular Dysplasia
Mesomelic leg shortening, Macrocephaly, Short femur, Hypoplastic ilia, Congenital hip dislocation... ORPHA:93333
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Malar ... OMIM:602613
Multiple Synostoses Syndrome 1
Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalanges of the hand, Hy... OMIM:186500
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Kyphosis, Abnormal morphology of ulna, Abnormal h... ORPHA:3344
Craniosynostosis-Mental Retardation-Clefting Syndrome
Forearm undergrowth, Microcephaly, Lower limb undergrowth OMIM:218650
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Metaphyseal dysplasia, Kyphoscoliosi... ORPHA:93316
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced ossification of carpal bon... OMIM:618363
Glycogen Storage Disease Vi
Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, Postnatal growth... OMIM:232700
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Cone-shaped epiphyses of the phalanges of the hand, Kyphosis, Failure to th... ORPHA:420794
Atelosteogenesis Type Ii
Broad phalanx, Micromelia, Upper limb undergrowth, Rhizomelic arm shortening, Dumbbell-shaped fem... ORPHA:56304
Multiple Metaphyseal Dysplasia
Short distal phalanx of finger, Macrocephaly, Abnormal hip bone morphology, Broad distal phalanx ... ORPHA:93430
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Proximal humeral metaphyseal irregularity, Coxa vara, Increased ... OMIM:183849
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o... OMIM:607078
Thrombocytopenia-Absent Radius Syndrome
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Finger syndactyly, Adducted thumb... ORPHA:3320
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy... OMIM:601668
Pseudoachondroplasia
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal sclerosis, Femoral bowing, Distal tibial bowing, Platyspondyly, Irregular acetabular ... OMIM:156500
Acrofacial Dysostosis Syndrome Of Rodriguez
Overlapping toe, Talipes equinovarus, Micrognathia, Short tibia, 11 pairs of ribs, Single transve... OMIM:201170
Acro-Renal-Mandibular Syndrome
Kyphosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hemivertebrae,... ORPHA:958
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Mandibular prognathia, Micromelia, Nonopposable triphalangeal thumb ORPHA:2252
Weyers Ulnar Ray/Oligodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Microg... OMIM:602418
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia OMIM:188740
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Failure to thrive in infancy, Splenomegaly OMIM:619175
Aase-Smith Syndrome
Talipes equinovarus, Slender finger, Abnormal hip bone morphology, Camptodactyly of finger, Scoli... ORPHA:916
Ethanolaminosis
Cardiomegaly OMIM:227150
Postaxial Acrofacial Dysostosis
Malar flattening, Hypoplasia of the radius, Micrognathia, Camptodactyly of finger, Hypoplasia of ... ORPHA:246
Acrofacial Dysostosis, Rodríguez Type
Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Microretrognathia, Hand oligodactyly, Malar ... ORPHA:1788
Brachyolmia Type 1, Hobaek Type
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Scoliosis, Short ... OMIM:271530
Microcephaly-Micromelia Syndrome
Forearm undergrowth, Talipes equinovarus, Micrognathia, Short tibia, Abnormality of the hand, Mic... OMIM:251230
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplasia of the radius, Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the ... OMIM:609945
Robin Sequence With Cleft Mandible And Limb Anomalies
Hypoplasia of the radius, Hip subluxation, Clinodactyly of the 5th finger, Talipes equinovarus, M... OMIM:268305
Multiple Epiphyseal Dysplasia, Lowry Type
Dislocated radial head, Fragmented epiphyses, Epiphyseal dysplasia, Delayed epiphyseal ossificati... ORPHA:166016
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Short stature, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepat... OMIM:614480
Diamond-Blackfan Anemia 11
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d... OMIM:614900
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Retrognathia, Camptodactyly of finge... ORPHA:2631
Pallister W Syndrome
Agenesis of central incisor, Radial bowing, Joint contracture of the hand, Pes cavus, Camptodacty... OMIM:311450
Orofaciodigital Syndrome Viii
Short tibia, Syndactyly, Polydactyly OMIM:300484
Codas Syndrome
Metaphyseal dysplasia, Coronal cleft vertebrae, Delayed ossification of carpal bones, Congenital ... OMIM:600373
Thanatophoric Dysplasia Type 1
Kyphosis, Macrocephaly, Short femur, Femoral bowing, Hypoplastic ilia, Platyspondyly, Micromelia,... ORPHA:1860
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Dental malocclusion, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Nar... OMIM:608940
Spondylometaphyseal Dysplasia, Algerian Type
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... OMIM:184253
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Flattened femoral head, Coxa vara, Hump-shaped mound of bone in central and posterior portions of... ORPHA:99642
Eiken Syndrome
Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor... ORPHA:79106
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Abnormal vertebral morphology, Hand polydactyly, Proximal placement of thumb, Abse... OMIM:314390
Coxopodopatellar Syndrome
Aplasia/Hypoplasia of the patella, Abnormal epiphysis morphology, Abnormal pelvic girdle bone mor... ORPHA:1509
Endove Syndrome, Limb-Only Type
Aplasia of the distal phalanges of the toes, Short middle phalanx of the 2nd finger, Cutaneous sy... OMIM:619217
Ophthalmomandibulomelic Dysplasia
Radial bowing, Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Coxa valga, Ul... OMIM:164900
W Syndrome
Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Cubitus valgus, Clin... ORPHA:2804
Atelosteogenesis Type I
Talipes equinovarus, Short femur, Abnormal ossification involving the femoral head and neck, Micr... ORPHA:1190
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Hypoplasia of the ulna, Aplasia of th... ORPHA:1352
Laurin-Sandrow Syndrome
Absent radius, Syndactyly, Triphalangeal thumb, Broad foot, Patellar aplasia, Short foot, Hand po... OMIM:135750
Melnick-Needles Syndrome
Short distal phalanx of finger, Failure to thrive, Cone-shaped epiphyses of the phalanges of the ... OMIM:309350
Mulibrey Nanism
Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature ORPHA:2576
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Acromesomelic Dysplasia, Hunter-Thompson Type
Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar creases, Scoliosis, ... ORPHA:968
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... OMIM:613091
Ulna Metaphyseal Dysplasia Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,... ORPHA:1837
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Fibular bowing, Lateral femoral bowing, Delayed eruption of permanent teeth,... OMIM:112350
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Macrocephaly, Abnormal morphology of ulna, Abnormality of the hum... ORPHA:1275
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Short femur, Adducted thumb, Micrognathia, Flared metaphysis, Short r... OMIM:616897
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Femoral bowing, Platyspondyly, Micromelia, 11 pairs of ribs, Long foot, Single transverse palmar ... OMIM:210710
Beukes Hip Dysplasia
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Shallow acetabular fossae, Broa... OMIM:142669
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat... OMIM:274000
Epiphyseal Dysplasia, Multiple, 1
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular e... OMIM:132400
Acromesomelic Dysplasia 1
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Thoracolumbar interpediculate ... OMIM:602875
Spondyloepimetaphyseal Dysplasia, Missouri Type
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... OMIM:602111
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice ORPHA:79238
Atelosteogenesis, Type Iii
Tibial bowing, Radial bowing, Talipes equinovarus, Knee dislocation, Malar flattening, Micrognath... OMIM:108721
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive, Macrocephaly, Relative macrocephaly, Short humerus, Lateral femoral ... OMIM:239000
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Lumbar hyperlordosis, Broad femoral neck, Short femoral neck, Genu varum, I... OMIM:609325
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... OMIM:609616
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Orofaciodigital Syndrome Iv
Postaxial polydactyly, Micrognathia, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand... OMIM:258860
Postaxial Acrofacial Dysostosis
Malar flattening, Hypoplasia of the radius, Micrognathia, Supernumerary vertebrae, Congenital hip... OMIM:263750
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Scoliosis, Abnormal form of the vertebral bodies, ... ORPHA:2370
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of... ORPHA:971
Distal Arthrogryposis Type 1
Abnormal hip bone morphology, Adducted thumb, Camptodactyly of finger, Overlapping fingers, Ulnar... ORPHA:1146
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Foot oligodactyly, Amelia, Short femur OMIM:601357
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Hypoplasia of the maxilla, Bowing of the long bones, S... ORPHA:1106
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Short greater sciatic notch, Anterior beaking of lumbar vertebrae, Platyspondyly, Coxa valga OMIM:271620
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Double-layered patel... ORPHA:166011
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Metaphyseal Anadysplasia 2
Bowing of the legs, Metaphyseal irregularity, Metaphyseal widening, Micromelia, Genu varum, Short... OMIM:613073
Juberg-Hayward Syndrome
Abnormality of finger, Hypoplasia of the radius, Microcephaly, Scoliosis, Radioulnar synostosis, ... ORPHA:2319
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Dental malocclusion, Kyphosis, Brachydactyly, Scoliosis, Hypoplas... ORPHA:1858
Distal Trisomy 5Q
Absent thumb, Hypoplasia of the radius, Micrognathia, Microcephaly, Brachydactyly, Carious teeth,... ORPHA:96097
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Talipes equinovarus, Coronal cleft vertebrae, Malar flattening, Bifid humer... OMIM:256050
Metatropic Dysplasia
Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante... OMIM:156530
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Split foot, Hypoplasia of the radius, Micrognathia, Hand pol... OMIM:200980
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Preaxial polydactyly, Pectoralis hypoplasia, Short humeru... OMIM:607323
Multiple Epiphyseal Dysplasia Type 4
Short metacarpal, Upper limb undergrowth, Arthralgia of the hip, Abnormal hand morphology, Genu v... ORPHA:93307
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Vertebral wedging, Short distal phalanx of... ORPHA:93314
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal ossification invo... ORPHA:2114
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Broad ... OMIM:271650
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Aplasia/Hypoplasia of the ulna, Aplasia of the 3rd finger, Split foot, Short hallux, Hand monodac... OMIM:119100
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Dislocated radial head, Beaking of vertebral bodies, Kyphoscoliosis, Talipes equinovarus, Failure... ORPHA:93359
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Hypoplasia of the capital femoral epiphysis, Delayed eruption of teeth, Hypoplasia of the ulna, G... OMIM:143095
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Short distal phalanx of the thumb, Finger syndactyly, Radial club ... ORPHA:959
Stuve-Wiedemann Syndrome 1
Femoral bowing, Ulnar deviation of finger, Carious teeth, Single transverse palmar crease, Contra... OMIM:601559
Thalidomide Embryopathy
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Aplasia/hypoplasia of the humerus, Radial ... ORPHA:3312
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Platyspondyly, Rhizomelic arm... OMIM:223800
Short Rib-Polydactyly Syndrome
Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Acetabular spurs, M... ORPHA:1505
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the ulna, Aplasia of the 1st metacarp... OMIM:600123
Robinow Syndrome, Autosomal Recessive 1
Macrocephaly, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Duplication of the dis... OMIM:268310
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Microcephaly, B... OMIM:617604
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Abdominal obesity, Postnatal growth retardation, Truncal obesity, Short stature OMIM:618160
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Brac... ORPHA:2639
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Vertebral wedging, Flat capital femoral ep... ORPHA:1159
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Short femur, Femoral bowing, Fractures of the long bones... OMIM:602080
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... OMIM:615285
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Van Den Ende-Gupta Syndrome
Femoral bowing, Narrow foot, Tapered finger, Glenoid fossa hypoplasia, Long metacarpals, Hypoplas... OMIM:600920
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Lateral humeral condyle aplasia, Camptodactyly of finger, Micr... ORPHA:2741
Brachymesomelia-Renal Syndrome
Hypoplasia of the radius, Micrognathia, Single transverse palmar crease, Mesomelic arm shortening... OMIM:113470
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Hand monodactyly, Bifid femur, Split hand, Foot monodactyly, Absent tibia OMIM:228250
Dysostosis Multiplex, Ain-Naz Type
Hemivertebrae, Wide humerus, Scoliosis, Glenoid fossa hypoplasia, Elongated femoral neck, Hypopla... OMIM:619345
Alagille Syndrome
Short distal phalanx of finger, Vertebral segmentation defect, Failure to thrive, Clinodactyly of... ORPHA:52
Omodysplasia 1
Malar flattening, Limited knee flexion/extension, Increased fibular diameter, Micrognathia, Short... OMIM:258315
Slc35A2-Cdg
Talipes equinovarus, Short tibia, Aplasia/hypoplasia involving bones of the extremities, Camptoda... ORPHA:356961
Heart-Hand Syndrome Type 2
Abnormal morphology of ulna, Abnormality of the humerus, Micromelia, Brachydactyly, Hemiatrophy, ... ORPHA:1350
Ring Chromosome 4 Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp... ORPHA:1447
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Bowing of the legs, Lumbar hyperlordosis, Metaphyseal spurs, Dysplastic iliac wing, Narrow greate... OMIM:608728
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Boomerang Dysplasia
Abnormality of femur morphology, Abnormal morphology of ulna, Abnormally ossified vertebrae, Apla... ORPHA:1263
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Relative macrocephaly, Hypoplasia of th... OMIM:617396
Autosomal Recessive Omodysplasia
Abnormality of femur morphology, Hypoplastic distal humeri, Micrognathia, Micromelia, Abnormal mo... ORPHA:93329
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna ORPHA:1118
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Kyphosis, Micrognathia, Microcephaly, Abnormality of the humerus,... ORPHA:3098
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cholestasis, Jaundice ORPHA:172
Orofaciodigital Syndrome Ix
Short tibia, Microcephaly, Camptodactyly, Hand polydactyly, Toe syndactyly OMIM:258865
Thoracomelic Dysplasia
Short ribs, Hyperlordosis, Abnormality of fibula morphology, Limb undergrowth, Genu valgum, Elbow... ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Platyspondyly, Micromelia, Synostosis of carpal bones, Upper limb undergrowth, Broad p... ORPHA:93351
Cholestasis, Progressive Familial Intrahepatic, 10
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... OMIM:619868
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Macrocephaly, Ankle clonus, Scoliosis, Hypoplasia of the ulna, Large for gestational age OMIM:615398
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Small thenar eminence, Short thumb, Distally placed thumb OMIM:179270
Spondylometaphyseal Dysplasia, Kozlowski Type
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Delayed oss... OMIM:184252
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... ORPHA:1836
Femoral-Facial Syndrome
Short fifth metatarsal, Hypoplastic acetabulae, Talipes equinovarus, Short fourth metatarsal, Mic... OMIM:134780
Ulnar-Mammary Syndrome
Aplasia of the 5th metacarpal, Aplasia of the ulna, Short clavicles, Aplasia of the 3rd finger, H... OMIM:181450
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Immunodeficiency 48
Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Platyspondyly, Abnormality of the ankles, Abnormal femoral head morphology, H... ORPHA:239
Odontochondrodysplasia
Dentinogenesis imperfecta, Retrognathia, Cone-shaped epiphysis, Platyspondyly, Micromelia, Delaye... ORPHA:166272
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, Early o... OMIM:208500
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Platyspondy... OMIM:251450
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hep... ORPHA:79301
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Blount Disease
Abnormality of the knee, Abnormal tibial metaphysis morphology, Tibial bowing, Abnormality of the... ORPHA:2768
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Splenomegaly, Elevated circulating aspartate aminotransferase concen... OMIM:620010
Eiken Syndrome
Delayed epiphyseal ossification, Long hallux, Eruption failure, Persistence of primary teeth, Del... OMIM:600002
Seckel Syndrome 1
Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th ... OMIM:210600
Tyrosinemia Type 1
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly ORPHA:882
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy ORPHA:66661
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Abnormality of the pubic bone... ORPHA:83468
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Baller-Gerold Syndrome
Carpal synostosis, Hypoplasia of the radius, Micrognathia, Carpal bone aplasia, Short humerus, Sc... OMIM:218600
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho... OMIM:618019
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Abnormality of fibula morphology, Pa... ORPHA:988
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Spondyloepimetaphyseal Dysplasia, Shohat Type
Metaphyseal irregularity, Delayed epiphyseal ossification, Coxa vara, Lumbar hyperlordosis, Narro... OMIM:602557
Sheldon-Hall Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Adducted thumb, Micrognathia, Overla... ORPHA:1147
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Failure to thrive, Decreased liver function, Intrauterine growth retardation, Elevated hepatic tr... OMIM:617093
Rothmund-Thomson Syndrome
Supernumerary tooth, Palmar hyperkeratosis, Small for gestational age, Broad ulna, Plantar hyperk... ORPHA:2909
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Immunodeficiency 54
Failure to thrive, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Short stature, Po... OMIM:609981
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Hydrocephalus With Associated Malformations
Tibial bowing, Micrognathia, Short lower limbs, Abnormal foot morphology, Lower limb undergrowth OMIM:236640
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Micrognathia, Abnormal form of the vertebral bodies, Limb underg... ORPHA:3429
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Tibial bowing, Lumbar hyperlordosis, Abnormal iliac wing morphology, Abnorm... ORPHA:1427
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Vertebral segmentation defect, Hypoplasia of the radius, Microcephaly, Abnormality of the humerus... ORPHA:3186
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... OMIM:184250
Steinfeld Syndrome
Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Missing ribs, Abnormal vertebral mo... OMIM:184705
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Short fourth metatarsal, Cone-shaped epiphysis, Platyspondyly, ... ORPHA:457395
Congenital Toxoplasmosis
Intrauterine growth retardation, Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, A... ORPHA:858
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Upper limb undergrowth, Narrow greater sciatic notch, Short ribs, Scoliosis, Abnor... ORPHA:168549
Cerebrocostomandibular Syndrome
Calcaneal epiphyseal stippling, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, M... OMIM:117650
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Phocomelia, Schinzel Type
Aplasia of the ulna, Ectrodactyly, Radial bowing, Hand oligodactyly, Hypoplasia of the radius, Mi... ORPHA:2879
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Brachydactyly, Micromelia, Truncal obesity, Ulnar deviation of finger, A... ORPHA:2928
Orofaciodigital Syndrome Type 2
Cone-shaped epiphyses of the phalanges of the hand, Complete duplication of hallux phalanx, Finge... ORPHA:2751
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Growt... OMIM:615234
Occipital Horn Syndrome
Kyphosis, Short clavicles, Coxa valga, Short humerus, Platyspondyly, Limited elbow extension, Gen... OMIM:304150
Mu-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy ORPHA:100024
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, ... ORPHA:2496
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Short stature,... OMIM:615631
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Ulbright-Hodes Syndrome
Aplasia/Hypoplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs,... ORPHA:3404
Jeune Syndrome
Cone-shaped epiphysis, Micromelia, Brachydactyly, Postaxial hand polydactyly, Postaxial foot poly... ORPHA:474
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Pelvis-Shoulder Dysplasia
Dislocated radial head, Lumbar hyperlordosis, Talipes equinovarus, Aplasia/Hypoplasia of the clav... ORPHA:2839
Immunodeficiency 69
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... OMIM:618963
Acrofacial Dysostosis 1, Nager Type
Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Broad hallux, Trismus, Talipes equ... OMIM:154400
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Absent glenoid fossa, Clinodactyly of the 3rd finger, Short 1st met... ORPHA:96334
Nager Syndrome
Hypoplasia of the radius, Micrognathia, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of t... ORPHA:245
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Short distal phalan... OMIM:210720
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Relative macrocephaly, Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Short r... OMIM:617895
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Metaphyseal cupping, Malar flattening, Platyspondyly, Micromelia,... ORPHA:85166
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short humerus, Brachydactyly, Delayed eruption of teeth, Rhizomelic arm shortening, Short metacarpal ORPHA:508542
Cranioectodermal Dysplasia 1
Short distal phalanx of finger, Short toe, Short ribs, Short humerus, Brachydactyly, Flattened ep... OMIM:218330
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Cholestasis, Progressive Familial Intrahepatic, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... OMIM:601847
Sc phocomelia syndrome
Aplasia of the ulna, Micrognathia, Microcephaly, Short thumb, Phocomelia, Clinodactyly, Knee flex... OMIM:269000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality of fibula ... ORPHA:3035
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Short clavicles, Absent thumb, Bilateral talipes equinovarus, Retrognathia, Hypoplastic scapulae,... OMIM:618022
Microphthalmia With Limb Anomalies
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Retrognathia, Camptodactyly of 2nd-5th fin... OMIM:206920
Acromesomelic Dysplasia 4
Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Mandibular progn... OMIM:619636
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal pelvic girdle bone morphology, Macrocephaly, Slender long bone ORPHA:1506
Microgastria-Limb Reduction Defects Association
Failure to thrive, Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Hypoplasia of the u... OMIM:156810
Thoracolaryngopelvic Dysplasia
Irregular vertebral endplates, Slender build, Short ribs, Metaphyseal widening, Scoliosis, Hypopl... OMIM:187760
Cleidocranial Dysplasia
Macrocephaly, Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Carious teeth, G... ORPHA:1452
Orofaciodigital Syndrome X
Hand oligodactyly, Retrognathia, Coalescence of tarsal bones, Fibular aplasia, Preaxial hand poly... OMIM:165590
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Satoyoshi Syndrome
Abnormality of femur morphology, Abnormal hip bone morphology, Microcephaly, Abnormality of the h... ORPHA:3130
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Microcephaly, Absent scaphoid, Aplasia of the 1st metacar... OMIM:617247
Codas Syndrome
Coronal cleft vertebrae, Congenital hip dislocation, Brachydactyly, Delayed eruption of teeth, Sc... ORPHA:1458
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia OMIM:615085
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Micrognathia, Short ti... OMIM:617925
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic trans... OMIM:613812
Ventriculomegaly With Defects Of The Radius And Kidney
Forearm undergrowth, Bowed forearm bones, Absent radius, Absent thumb OMIM:602200
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Czech Dysplasia
Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Platyspondyl... OMIM:609162
Fanconi Anemia, Complementation Group O
Absent thumb, Hypoplasia of the radius, Small thenar eminence, Proximal placement of thumb, Short... OMIM:613390
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short long bone, Short humerus, Brachydactyly, Bowed humerus, Trident pelvis OMIM:619479
Cousin Syndrome
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, 2-3 toe syndactyly, ... OMIM:260660
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Platyspondyly, Biconcave vertebral bodies, Arthralgia of the hip, ... ORPHA:93284
Kniest Dysplasia
Delayed epiphyseal ossification, Tibial bowing, Coxa vara, Coronal cleft vertebrae, Malar flatten... OMIM:156550
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Abnormality of femur morphology, Hip dislocation, Micromelia ORPHA:1508
Fanconi Anemia, Complementation Group P
Absent thumb, Hypoplasia of the radius, Micrognathia, Microcephaly, Short thumb OMIM:613951
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossificat... OMIM:600785
Multiple Osteochondromas
Abnormality of femur morphology, Abnormal hand morphology, Abnormality of fibula morphology, Limi... ORPHA:321
Osteofibrous Dysplasia, Susceptibility To
Fibular hypoplasia, Pseudoarthrosis OMIM:607278
Intellectual Developmental Disorder, Autosomal Dominant 53
Microcephaly, Genu valgum, Macrocephaly, Short femur OMIM:617798
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Small abnormally formed scapulae, Tibial bowing, Ta... ORPHA:140
Fanconi Anemia
Abnormality of femur morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, A... ORPHA:84
Schneckenbecken Dysplasia
Hypoplastic vertebral bodies, Macrocephaly, Malar flattening, Short ribs, Increased fibular diame... ORPHA:3144
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Abnormal hip bone morphology, Micrognathia, Camptodactyly of finge... ORPHA:1323
Wiedemann-Rautenstrauch Syndrome
Failure to thrive, Macrocephaly, Talipes equinovarus, Malar flattening, Short femur, Small for ge... OMIM:264090
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Otopalatodigital Syndrome, Type Ii
Radial deviation of the 2nd finger, Femoral bowing, Congenital hip dislocation, Rudimentary fibul... OMIM:304120
Aredyld Syndrome
Abnormal dental enamel morphology, Cachexia, Brachydactyly, Advanced eruption of teeth, Scoliosis... ORPHA:1133
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Harrod Syndrome
Dental malocclusion, Kyphosis, Failure to thrive, Arachnodactyly, Microcephaly, Scoliosis, Abnorm... ORPHA:2115
Tarp Syndrome
Failure to thrive, Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the r... OMIM:311900
Ivic Syndrome
Hypoplasia of the radius, Preaxial hand polydactyly, Synostosis of carpal bones, Scoliosis, Radio... ORPHA:2307
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Metaphyseal chondrodysplasia, Femoral bowing, Microcephaly, Fibular bowing, Aplasi... ORPHA:85165
Camurati-Engelmann Disease
Abnormality of femur morphology, Abnormality of the humerus, Delayed eruption of teeth, Carious t... ORPHA:1328
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Talipes equinovarus, Bilateral talipes equinovarus, Mirror image foot polydactyly, Patellar hypop... OMIM:119800
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Failure to thrive, Short femur, Microcephaly, Short humerus, Polydactyly ORPHA:17
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Split foot, Aplasia/Hypoplasia of the fibula, Brachydactyly, Short phalanx of finger, Fibular apl... OMIM:113310
Wolman Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cachexia, Growth delay, Anemia, Bone-marrow foam cel... ORPHA:75233
Fibrochondrogenesis 1
Short palm, Clinodactyly of the 5th finger, Joint contracture of the hand, Malar flattening, Narr... OMIM:228520
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Grant Syndrome
Abnormality of the glenoid fossa, Micrognathia, Bowing of the long bones, Abnormal pelvic girdle ... ORPHA:2097
Distal Limb Deficiencies-Micrognathia Syndrome
Macrocephaly, Microretrognathia, Abnormal morphology of ulna, Split foot, Abnormality of the ankl... ORPHA:1307
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Radio-Renal Syndrome
Retrognathia, Micrognathia, Hypoplasia of the radius, Micromelia, Brachydactyly, Abnormal form of... ORPHA:3015
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Jaundice... OMIM:211600
Acrocraniofacial Dysostosis
Short distal phalanx of finger, Flared iliac wing, Partial duplication of the distal phalanx of t... ORPHA:949
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Short ribs, Platyspondyly, Brachydactyly, Postaxial polysyndactyly of foot, Postaxial hand polyda... OMIM:263520
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Ulnar-Mammary Syndrome
Aplasia/Hypoplasia of the ulna, Short distal phalanx of finger, Absent hand, Abnormality of finge... ORPHA:3138
Nephronophthisis 19
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation OMIM:616217
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Al-Gazali Syndrome
Failure to thrive, Bilateral talipes equinovarus, Proximal radio-ulnar synostosis, Micrognathia, ... OMIM:609465
Fanconi Anemia, Complementation Group I
Decreased body weight, Absent thumb, Hypoplasia of the radius, Short 1st metacarpal, Microcephaly... OMIM:609053
Geroderma Osteodysplasticum
Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Malar ... OMIM:231070
Holt-Oram Syndrome
Kyphosis, Absent thumb, Down-sloping shoulders, Abnormality of the humerus, Scoliosis, Radioulnar... ORPHA:392
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Fanconi Anemia, Complementation Group W
Hypoplasia of the radius, Microcephaly, Absent thumb OMIM:617784
Bile Acid Synthesis Defect, Congenital, 2
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, In... OMIM:235555
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Hemivertebrae, Aplasia/Hypoplasia of t... OMIM:276820
Congenital Insensitivity To Pain With Severe Intellectual Disability
Tibial bowing, Small for gestational age, Micrognathia, Talipes equinovalgus, Congenital bilatera... ORPHA:453510
Roberts Syndrome
Hypoplasia of the radius, Abnormality of the upper limb, Radioulnar synostosis, Sandal gap, Compl... ORPHA:3103
Sponastrime Dysplasia
Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the nasal bone, Genu valgum, Rhizomelia,... ORPHA:93357
Boomerang Dysplasia
Hypoplastic iliac body, Fibular aplasia, Absent radius OMIM:112310
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short femoral neck, Clinodactyly, Proximal femoral metaphysea... OMIM:113500
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decre... OMIM:212140
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:264700
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Clinodactyly of the 5th finger, Talipes equinovarus, Short femur, Micrognathia, Broad distal phal... OMIM:300990
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Ulnar Agenesis And Endocardial Fibroelastosis
Aplasia of the ulna, Hand oligodactyly OMIM:276822
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai... OMIM:600081
Familial Osteodysplasia, Anderson Type
Kyphosis, Clinodactyly of the 5th finger, Malar flattening, Failure of eruption of permanent teet... ORPHA:2769
Achondrogenesis, Type Ia
Bowing of the legs, Short clavicles, Severe limb shortening, Talipes equinovarus, Hypoplastic sac... OMIM:200600
Occipital Horn Syndrome
Platyspondyly, Abnormality of the pubic bone, Humerus varus, Down-sloping shoulders, Abnormality ... ORPHA:198
Transaldolase Deficiency
Failure to thrive, Decreased liver function, Atrial septal defect, Hepatomegaly, Micronodular cir... OMIM:606003
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Small for gestational age, Platyspondyly, Angulated humerus, Mesomelia, Rhizom... OMIM:616229
Anemia, Congenital Dyserythropoietic, Type Ia
Anemia of inadequate production, Hepatomegaly, Mild postnatal growth retardation, Splenomegaly, S... OMIM:224120
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... OMIM:617394
Tibial Hemimelia
Absent tibia OMIM:275220
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal distal femoral condyles,... OMIM:307800
Osteosclerosis With Ichthyosis And Fractures
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses OMIM:166740
Vitamin D-Dependent Rickets, Type 2A
Metaphyseal irregularity, Tibial bowing, Subperiosteal bone resorption, Delayed epiphyseal ossifi... OMIM:277440
Wiedemann-Rautenstrauch Syndrome
Slender build, Failure to thrive, Kyphoscoliosis, 2-3 toe syndactyly, Hypoplastic vertebral bodie... ORPHA:3455
Lacrimoauriculodentodigital Syndrome
Clinodactyly of the 5th finger, Hypoplasia of the radius, Partial duplication of thumb phalanx, 2... OMIM:149730
Osteogenesis Imperfecta, Type Iii
Kyphosis, Tibial bowing, Dentinogenesis imperfecta, Micrognathia, Biconcave vertebral bodies, Sco... OMIM:259420
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... OMIM:607765
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Corner fracture of metaphysis, Platyspondyly, Biconcave vertebral bodies, Upper limb undergrowth,... ORPHA:93315
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly OMIM:619064
Chondrodysplasia-Disorder Of Sex Development Syndrome
Microcephaly, Micromelia, Short phalanx of finger, Abnormal shoulder morphology, Abnormal pelvic ... ORPHA:1422
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Spondylocarpotarsal Synostosis Syndrome
Block vertebrae, Vertebral segmentation defect, Epiphyseal dysplasia, Carpal synostosis, Clinodac... OMIM:272460
Lysosomal Acid Lipase Deficiency
Failure to thrive, Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, H... OMIM:278000
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Clinodactyly of the 5th finger, Microcephaly, Abnormal pelvic girdle bone mo... ORPHA:3079
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Macrocephaly, Femoral bowing, Short 1st metacarpal, 11 pairs ... OMIM:114290
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Platyspondyly, 11 pairs of ribs, Genu valgum, H... OMIM:271640
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Tibial bowing, Absent ossification of capital femoral epiphysis, Femoral bowing, Platyspondyly, C... OMIM:245160
Diamond-Blackfan Anemia 1
Failure to thrive, Absent thumb, Hypoplastic coccygeal vertebrae, Retrognathia, Micrognathia, Hyp... OMIM:105650
Budd-Chiari Syndrome
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... ORPHA:131
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Attrv30M Amyloidosis
Weight loss, Cardiomyopathy, Cardiomegaly ORPHA:85447
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Intrauterine growth retardation, Hepatomegaly, Splenomegaly, Decreased hemoglobin... OMIM:266200
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal hip bone morphology, Microcephaly, Genu varum, Hypoplasia of the zygomatic bone, Carious... ORPHA:1110
Renal Dysplasia-Limb Defects Syndrome
Aplasia of the ulna, Short sternum, Talipes equinovarus, Short metacarpal, Short ribs, Hypoplasia... OMIM:266910
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Jaundice ORPHA:99978
Otopalatodigital Syndrome Type 2
Carpal synostosis, Failure to thrive, Malar flattening, Flared iliac wing, Preaxial polydactyly, ... ORPHA:90652
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... OMIM:600649
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Aplasia/Hypoplasia of the tibia, Postaxial foot polydactyly, ... OMIM:601027
Osteogenesis Imperfecta, Type Viii
Kyphosis, Tibial bowing, Radial bowing, Dentinogenesis imperfecta, Femoral retroversion, Femoral ... OMIM:610915
Acrofacial Dysostosis, Cincinnati Type
Flared lower limb metaphysis, Decreased body weight, Retrognathia, Micrognathia, Femoral bowing, ... OMIM:616462
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Failure to thrive, Anomalo... ORPHA:860
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Fibular aplasia OMIM:218550
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Hepatic fail... ORPHA:79303
Duane Retraction Syndrome
Talipes equinovarus, Hypoplasia of the radius, Micrognathia, Absent radius, Microcephaly, Brachyd... ORPHA:233
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... ORPHA:615
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... OMIM:616689
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Dislocated radial head, Hypoplasia of the premaxilla, Micrognathia, Mandibular condyle hypoplasia... ORPHA:2975
Alagille Syndrome 1
Short distal phalanx of finger, Failure to thrive, Hemivertebrae, Hypoplasia of the ulna, Butterf... OMIM:118450
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, A... OMIM:235200
Camptodactyly Syndrome, Guadalajara, Type I
Twelfth rib hypoplasia, Absent frontal sinuses, Abnormality of dental eruption, Hallux valgus, Cu... OMIM:211910
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Micromelia, Rhizomelia, Abnormal epiphysis morphology, Bowing of t... ORPHA:175
Vacterl With Hydrocephalus
Retrognathia, Micrognathia, Hypoplasia of the radius, Hemivertebrae, Abnormal form of the vertebr... ORPHA:3412
Charge Syndrome
Absent tibia, Abnormal palmar dermatoglyphics, Malar flattening, Bilateral talipes equinovarus, M... OMIM:214800
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short stature, Spherocytosis, Splenomegaly ORPHA:66518
Fanconi Anemia, Complementation Group F
Failure to thrive, Absent thumb, Hypoplasia of the radius, Microcephaly, 2-3 finger syndactyly, S... OMIM:603467
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice OMIM:185000
Tarp Syndrome
Hypoplasia of proximal radius, Failure to thrive, Short sternum, Talipes equinovarus, Postaxial p... ORPHA:2886
Mosaic Trisomy 16
Small for gestational age, Craniofacial asymmetry, Syndactyly, Short femoral neck, Single transve... ORPHA:1708
8Q24.3 Microdeletion Syndrome
Congenital hip dislocation, Micromelia, Finger clinodactyly, Single transverse palmar crease, Roc... ORPHA:508488
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... OMIM:613673
Spherocytosis, Type 5
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... OMIM:612690
Erythrocytosis, Familial, 8
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... OMIM:222800
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Caroli Disease
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... ORPHA:53035
Absent Radius-Anogenital Anomalies Syndrome
Hypoplasia of the radius, Ectrodactyly, Oligodactyly ORPHA:3016
Isolated Biliary Atresia
Failure to thrive, Decreased liver function, Hepatomegaly, Periportal fibrosis, Severe failure to... ORPHA:30391
Kinsship Syndrome
Dislocated radial head, Failure to thrive, Micrognathia, Microcephaly, Scoliosis, Polydactyly, Si... OMIM:619297
Short Stature, Dauber-Argente Type
Decreased fibular diameter, Arachnodactyly, Microcephaly, Delayed eruption of teeth, Long fingers... OMIM:619489
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones OMIM:114000
Hydrolethalus Syndrome 1
Talipes equinovarus, Micrognathia, Proximal tibial hypoplasia, Upper limb undergrowth, Postaxial ... OMIM:236680
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatomegaly, Splenomegaly, Small for gestational age, Cirrhosis, Hepatic failure... ORPHA:567983
Osteopathia Striata With Cranial Sclerosis
Dental malocclusion, Failure to thrive, Clinodactyly of the 5th finger, Talipes equinovarus, Para... OMIM:300373
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Abnormality of the pubic bone, Micromelia, Abnormal metaphysis mor... ORPHA:2636
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... OMIM:235700
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... ORPHA:288
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Renal-Hepatic-Pancreatic Dysplasia 1
Atrial septal defect, Hepatomegaly, Aortic valve stenosis, Splenomegaly, Cirrhosis, Pancreatic fi... OMIM:208540
Cornelia De Lange Syndrome 1
Dislocated radial head, Clinodactyly of the 5th finger, Short sternum, 2-3 toe syndactyly, Hand o... OMIM:122470
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Increased red cell sickling tendency, H... OMIM:603903
Trisomy 13
Ectrodactyly, Kyphosis, Malar flattening, Bilateral single transverse palmar creases, Scoliosis, ... ORPHA:3378
Oncogenic Osteomalacia
Abnormality of femur morphology, Tibial bowing, Abnormality of fibula morphology, Abnormal foot m... ORPHA:352540
Axial Mesodermal Dysplasia Spectrum
Vertebral segmentation defect, Micrognathia, Scoliosis, Abnormal form of the vertebral bodies, Mi... ORPHA:1834
Saethre-Chotzen Syndrome
Clinodactyly of the 5th finger, Absent first metatarsal, Partial duplication of the distal phalan... OMIM:101400
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Combined Oxidative Phosphorylation Deficiency 41
Anemia, Intrauterine growth retardation, Cardiomegaly OMIM:618838
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Finger syndactyly, Split foot, Hemivertebrae, Ab... ORPHA:1112
Spherocytosis, Type 1
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice OMIM:182900
Caudal Regression Syndrome
Hypoplastic vertebral bodies, Abnormal iliac wing morphology, Talipes equinovarus, Abnormal verte... ORPHA:3027
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Coxa vara, Tibial bowing, Distal femoral bowing, Delayed eruption of ... ORPHA:289176
Orofaciodigital Syndrome Type 4
Failure to thrive, Aplasia/Hypoplasia of the tibia, Finger syndactyly, Retrognathia, Micrognathia... ORPHA:2753
Gapo Syndrome
Abnormal metaphysis morphology, Micrognathia, Delayed eruption of teeth, Abnormal form of the ver... ORPHA:2067
Acromelic Frontonasal Dysplasia
Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus, Aplasia/Hypoplasia of the tibia ORPHA:1827
Ellis Van Creveld Syndrome
Short distal phalanx of finger, Failure to thrive, Micromelia, Delayed eruption of teeth, Synosto... ORPHA:289
Cryohydrocytosis
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly OMIM:185020
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Lacrimoauriculodentodigital Syndrome
Finger syndactyly, Absent thumb, Hypoplasia of the radius, Micrognathia, Syndactyly, Duplication ... ORPHA:2363
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cervical C2/C3 vertebral fusion, Hypoplasia of proximal radius, Small hand, Micrognathia, Microce... ORPHA:444077
Vater/Vacterl Association
Failure to thrive, Hypoplasia of the radius, Preaxial polydactyly, Syndactyly, Scoliosis, Short t... OMIM:192350
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Isolated Epispadias
Abnormal pelvic girdle bone morphology ORPHA:93928
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Hypoplasia of the radius, Clinodactyly of the 5th finger, Toe syndactyly ORPHA:140952
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Branchiooculofacial Syndrome
Kyphosis, Clinodactyly of the 5th finger, Malar flattening, Cleft of chin, Micrognathia, Microcep... OMIM:113620
Williams Syndrome
Down-sloping shoulders, Abnormality of the ankles, Carious teeth, Radioulnar synostosis, Genu val... ORPHA:904

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.

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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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