Gene: Pappa2 MGI:3051647

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:

PLAC3, placenta-specific 3, 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.

Human diseases associated with Pappa2 (1 diseases)
Human diseases predicted to be associated with Pappa2 (558 diseases)

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, Long fingers, Arachnodactyly, Delayed eruption of teeth, Long toe, Mi...	OMIM:619489

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

Disease	Matching phenotypes	Source
Acrocapitofemoral Dysplasia	Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ...	OMIM:607778
Rhizomelic Dysplasia, Ain-Naz Type	Hypoplasia of the femoral head, Rhizomelia, Platyspondyly, Wide distal femoral metaphysis, Hip dy...	OMIM:619598
Rhizomelic Chondrodysplasia Punctata, Type 3	Epiphyseal stippling, Failure to thrive, Rhizomelia, Short humerus, Short femur	OMIM:600121
Langer Mesomelic Dysplasia	Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u...	OMIM:249700
Faciocardiomelic Dysplasia, Lethal	Micrognathia, Small for gestational age, Talipes, Fibular hypoplasia, Short 5th finger, Hypoplasi...	OMIM:227270
Acromesomelic Dysplasia 2A	Aplasia/Hypoplasia of the patella, Valgus hand deformity, Aplasia/Hypoplasia of metatarsal bones,...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg...	OMIM:118651
Acromesomelic Dysplasia 2C	Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge...	OMIM:201250
Brachydactyly Type A1	Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di...	ORPHA:93388
Multiple Epiphyseal Dysplasia With Robin Phenotype	Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e...	OMIM:601560
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip...	ORPHA:1856
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Exostoses of the radius, Deformed humerus, Flared femoral metaphysis, Tibi...	ORPHA:85188
Rhizomelic Dysplasia, Patterson-Lowry Type	Short metatarsal, Rhizomelia, Platyspondyly, Coxa vara, Short metacarpal, Short humerus, Deformed...	OMIM:601438
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Lytic defects of humeral ...	OMIM:601376
Rhizomelic Chondrodysplasia Punctata, Type 2	Micrognathia, Irregular vertebral endplates, Failure to thrive, Rhizomelia, Stippled calcificatio...	OMIM:222765
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Rhizomelia, Abnormal form of the vertebral bodies, Genu valgum, Deviation ...	ORPHA:2831
Leri-Weill Dyschondrosteosis	Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t...	OMIM:127300
Lethal Faciocardiomelic Dysplasia	Radial club hand, Fibular hypoplasia, Hypoplasia of the radius, Sandal gap, Short 5th finger, Bil...	ORPHA:1972
Femur-Fibula-Ulna Complex	Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop...	ORPHA:2019
Metaphyseal Acroscyphodysplasia	Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip...	OMIM:250215
Spondyloperipheral Dysplasia	Short metatarsal, Malar flattening, Limited elbow extension, Short toe, Flat acetabular roof, Con...	OMIM:271700
Osebold-Remondini Syndrome	Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ...	OMIM:112910
Hypochondroplasia	Genu varum, Aplasia/hypoplasia of the extremities, Malar flattening, Macrocephaly, Limited elbow ...	OMIM:146000
Léri-Weill Dyschondrosteosis	Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm...	ORPHA:240
Syndactyly Type 4	Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi...	ORPHA:93405
Ulnar Hypoplasia	Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D...	OMIM:191440
Rhizomelic Chondrodysplasia Punctata, Type 5	Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ...	OMIM:616716
Congenital Radioulnar Synostosis	Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of...	ORPHA:3269
Dyggve-Melchior-Clausen Syndrome, X-Linked	Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu...	OMIM:304950
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Knee dislocation, Tapered finger, Irregular vertebral endplates, Obesity, Metaphyseal irregularit...	OMIM:618395
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion contracture, ...	OMIM:249600
Acheiropody	Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A...	OMIM:200500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Genu varum, Phocomelia, Aplasia/Hypoplasia of the thumb, Short 2nd metacarpal, Mesomelic arm shor...	OMIM:171480
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Microcephaly, Absent thumb, Hypoplasia of t...	OMIM:612447
Symbrachydactyly Of Hands And Feet	Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A...	ORPHA:1570
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Hypoplasia of the ulna, Syndactyly, Split foot, Short finger	OMIM:314360
Omodysplasia 2	Limited elbow flexion, Dislocated radial head, Hypoplastic distal humeri, Rhizomelic arm shorteni...	OMIM:164745
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Pseudoarthrosis, Hypoplasia of the radius, Short tibia	OMIM:156230
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short...	ORPHA:2491
Acheiropodia	Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met...	ORPHA:931
Angioosteohypotrophic Syndrome	Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Abnormal foot mor...	ORPHA:75508
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus	OMIM:276821
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Micrognathia, Syndactyly, Hypoplasia of the radius	OMIM:212780
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand	OMIM:277150
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, Abnorma...	ORPHA:2779
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ...	OMIM:147891
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Proximal femoral metaphyseal irregularity, Irregularity of vertebral bodies, Flat distal femoral ...	OMIM:609324
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski	Abnormality of pelvic girdle bone morphology, Short toe, Abnormality of long bone morphology, Sho...	OMIM:259270
Ulnar Hypoplasia-Split Foot Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot	ORPHA:1122
Ulnar/Fibular Ray Defect And Brachydactyly	Toe syndactyly, Lower limb asymmetry, Malar flattening, Fibular hypoplasia, Postaxial oligodactyl...	OMIM:608571
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone...	ORPHA:2634
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Micrognathia, Malar flattening, Hypoplasia of the ulna, Decreased body weight, Clinodactyly	ORPHA:357175
Autosomal Dominant Omodysplasia	Micrognathia, Rhizomelia, Malar flattening, Short 1st metacarpal, Short palm, Short humerus, Pate...	ORPHA:93328
Ulna Hypoplasia-Intellectual Disability Syndrome	Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Hypoplasia of the ...	ORPHA:2249
Metaphyseal Anadysplasia 2	Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs	OMIM:613073
Arms, Malformation Of	Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis	OMIM:107900
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Talipes equinovarus, Malar flattening, Short 5th finger, Short foot, Postaxial oligodactyly, Apla...	ORPHA:52056
Mental Retardation, Autosomal Recessive 35	Micrognathia, Malar flattening, Hypoplasia of the ulna, Decreased body weight, Clinodactyly	OMIM:615162
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal form o...	ORPHA:1802
Acromesomelic Dysplasia, Grebe Type	Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,...	ORPHA:2098
Acrodysostosis	Abnormality of the ulna, Cone-shaped epiphysis, Epiphyseal stippling, Mandibular prognathia, Shor...	ORPHA:950
Holt-Oram Syndrome	Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Abnormal vertebral morph...	OMIM:142900
Tibial Torsion, Bilateral Medial	Abnormality of tibia morphology, Scoliosis, Tibial torsion, Bowing of the legs	OMIM:188800
Fetal Cytomegalovirus Syndrome	Hepatomegaly, Anemia, Splenomegaly	ORPHA:294
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Talipes equinovarus, Small for gestational age, Failure to thrive, Rhizomeli...	OMIM:607143
Spondylometaphyseal Dysplasia, Corner Fracture Type	Genu varum, Hyperconvex vertebral body endplates, Metaphyseal irregularity, Ovoid vertebral bodie...	OMIM:184255
Fibular Hemimelia	Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty...	ORPHA:93323
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa	Biconcave vertebral bodies, Prominent deltoid tuberosities, Short clavicles, Rhizomelia, Short ri...	OMIM:610319
Upper Limb Mesomelic Dysplasia	Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing	ORPHA:2497
Mietens Syndrome	Metatarsus adductus, Elbow ankylosis, Talipes, Avascular necrosis of the capital femoral epiphysi...	ORPHA:2557
Ulna And Fibula, Hypoplasia Of	Hypoplasia of the ulna, Fibular hypoplasia	OMIM:191400
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral synostosis, M...	OMIM:602471
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Short lower limbs, Genu varum, Metaphyseal dysplasia, Abnormality of epiphysis mor...	ORPHA:2501
Acromesomelic Dysplasia 3	Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A...	OMIM:609441
Shox-Related Short Stature	Micrognathia, Tibial bowing, Lower limb undergrowth, Cubitus valgus, Genu valgum, Short foot, Obe...	ORPHA:314795
Atelosteogenesis, Type I	Distal tapering femur, Talipes equinovarus, Short metatarsal, Malar flattening, 11 pairs of ribs,...	OMIM:108720
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Femoral-Facial Syndrome	Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Sc...	ORPHA:1988
Orofaciodigital Syndrome Type 10	Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal...	ORPHA:2756
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormality of the upper limb...	ORPHA:2141
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Micrognathia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasi...	ORPHA:2256
Kyphomelic Dysplasia	Micrognathia, Tibial bowing, Radial bowing, Talipes equinovarus, Bowed humerus, Ulnar bowing, Pla...	OMIM:211350
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin...	OMIM:605274
Multiple Synostoses Syndrome 1	Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit...	OMIM:186500
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Hypoplasia of the ulna, Micrognathia, Syndactyly, Mesomelia	OMIM:228940
Tibial Aplasia-Ectrodactyly Syndrome	Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h...	ORPHA:3329
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn...	ORPHA:2878
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Dyschondrosteosis And Nephritis	Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia	OMIM:127350
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle...	ORPHA:85170
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E...	ORPHA:1986
Ritscher-Schinzel Syndrome 3	Poorly ossified vertebrae, Micrognathia, Relative macrocephaly, Epiphyseal stippling, Shortening ...	OMIM:619135
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Genu varum, Vertebral wedging, Epiphyseal dysplasia, Platyspondyly, A...	OMIM:617719
Ulnar Hemimelia	Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu...	ORPHA:93320
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab...	OMIM:246570
3M Syndrome	Rocker bottom foot, Abnormality of the elbow, Abnormal dental enamel morphology, Congenital hip d...	ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Flattened femoral head, Arthralgia of the hip, Abnormality of the knee, Dysplasia of the femoral ...	ORPHA:99642
Epiphyseal Dysplasia, Multiple, 4	Limited elbow flexion, Double-layered patella, Flat capital femoral epiphysis, Hypoplasia of the ...	OMIM:226900
Atelosteogenesis Type Iii	Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ...	ORPHA:56305
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ...	OMIM:228930
Cenani-Lenz Syndrome	Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Malar flattening, Abnormal d...	ORPHA:3258
Pelviscapular Dysplasia	Abnormality of the joint spaces of the elbow, Mesomelic leg shortening, Hypoplastic scapulae, Elb...	ORPHA:93333
Spondyloepiphyseal Dysplasia Congenita	Abnormal foot morphology, Micrognathia, Upper limb undergrowth, Small epiphyses, Increased head c...	ORPHA:94068
Metaphyseal Chondrodysplasia, Schmid Type	Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Femoral bowing, Short long...	ORPHA:174
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Proximal humeral metaphyseal irregularity, Micrognathia, Ulnar deviation of the hand, Ulnar devia...	OMIM:602613
Ivic Syndrome	Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o...	OMIM:147750
Spondylometaphyseal Dysplasia, Type A4	Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, Ovoid vertebral bodi...	OMIM:609052
Hypochondroplasia	Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ...	ORPHA:429
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh...	ORPHA:440354
Cono-Spondylar Dysplasia	Short lower limbs, Failure to thrive, Short 4th toe, Epiphyseal dysplasia, Kyphosis, Short humeru...	ORPHA:420794
Glycogen Storage Disease Vi	Hepatomegaly, Failure to thrive in infancy, Increased hepatic glycogen content, Postnatal growth ...	OMIM:232700
Weismann-Netter Syndrome	Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal...	ORPHA:3344
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Pes planus, Short long bone, Microretrognathia, Micrognathia, Small epiphyses, Kne...	OMIM:618363
Microcephaly-Micromelia Syndrome	Abnormality of the hand, Micrognathia, Talipes equinovarus, Absent radius, Microcephaly, Forearm ...	OMIM:251230
Atelosteogenesis Type Ii	Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ...	ORPHA:56304
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet...	ORPHA:93316
Epiphyseal Dysplasia, Multiple, 5	Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy...	OMIM:607078
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,...	OMIM:183849
Multiple Metaphyseal Dysplasia	Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin...	ORPHA:93430
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ...	ORPHA:3320
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Brachyolmia Type 1, Hobaek Type	Short iliac bones, Sclerotic foci of metaphyses of the elbow, Short long bone, Kyphosis, Scoliosi...	OMIM:271530
Aase-Smith Syndrome	Talipes equinovarus, Aplasia/Hypoplasia of the radius, Slender finger, Camptodactyly of finger, A...	ORPHA:916
Acrofacial Dysostosis Syndrome Of Rodriguez	Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p...	OMIM:201170
Acro-Renal-Mandibular Syndrome	Micrognathia, Butterfly vertebrae, Hypoplastic scapulae, Hemivertebrae, Hypoplasia of the zygomat...	ORPHA:958
Pseudoachondroplasia	Genu varum, Metaphyseal irregularity, Abnormal form of the vertebral bodies, Abnormality of femor...	ORPHA:750
Tibial Hemimelia	Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip...	ORPHA:93322
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Broad femoral neck, Small epiphyses, Discolored lateral incisors, Tapered finger, Irregular verte...	OMIM:601668
Spondyloepimetaphyseal Dysplasia, Missouri Type	Irregular sclerotic endplates, Small epiphyses, Tibial bowing, Genu varum, Radial bowing, Pear-sh...	OMIM:602111
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal ilium morphology, Cervical platyspondyly, Short middle phalanx of finger, Genu varum, Sh...	ORPHA:93314
Multiple Epiphyseal Dysplasia Type 4	Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi...	ORPHA:93307
Craniosynostosis-Mental Retardation-Clefting Syndrome	Lower limb undergrowth, Microcephaly, Forearm undergrowth	OMIM:218650
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Nonopposable triphalangeal thumb, Micromelia, Hypoplasia of the radius	ORPHA:2252
Multiple Epiphyseal Dysplasia, Lowry Type	Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep...	ORPHA:166016
Ethanolaminosis	Cardiomegaly	OMIM:227150
Ophthalmomandibulomelic Dysplasia	Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Radioulnar ...	OMIM:164900
Stuve-Wiedemann Syndrome 1	Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Malar flattening, Abnormal...	OMIM:601559
Atelosteogenesis, Type Iii	Cervical segmentation defect, Micrognathia, Tibial bowing, Radial bowing, Knee dislocation, Talip...	OMIM:108721
Postaxial Acrofacial Dysostosis	Micrognathia, Malar flattening, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of fin...	ORPHA:246
Diamond-Blackfan Anemia 11	Hypoplasia of the radius, Abnormal digit morphology, Absent thumb, Forearm reduction defects, Hyp...	OMIM:614900
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Short stature, Splenomegaly, Hepatic steatosis, Elevated hepatic ...	OMIM:614480
Immunodeficiency 48	Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:269840
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t...	OMIM:609945
Metaphyseal Chondrodysplasia, Schmid Type	Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu...	OMIM:156500
Atelosteogenesis, Type Ii	Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, Coronal cleft vertebra...	OMIM:256050
Pallister W Syndrome	Metatarsus adductus, Agenesis of central incisor, Radial bowing, Cubitus valgus, Joint contractur...	OMIM:311450
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Metaphyseal irregularity, ...	OMIM:250460
Codas Syndrome	Hypoplasia of the odontoid process, Metaphyseal dysplasia, Coronal cleft vertebrae, Pes valgus, P...	OMIM:600373
Orofaciodigital Syndrome Viii	Syndactyly, Polydactyly, Short tibia	OMIM:300484
Hyperlipoproteinemia, Type Id	Failure to thrive, Hepatomegaly, Splenomegaly	OMIM:615947
W Syndrome	Metatarsus adductus, Radial bowing, Cubitus valgus, Pes planus, Elbow dislocation, Pes cavus, Cam...	ORPHA:2804
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab...	ORPHA:2631
Thanatophoric Dysplasia Type 1	Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno...	ORPHA:1860
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Proximal placement of thumb, Absent radius, Hand polydactyly, Shor...	OMIM:314390
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas...	OMIM:608940
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Micrognathia, Aplasia/Hypoplasia of the thumb, Absent radius, Aplasia of the 1st metacarpal, Hypo...	ORPHA:1352
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati...	ORPHA:3332
Robin Sequence With Cleft Mandible And Limb Anomalies	Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu...	OMIM:268305
Laurin-Sandrow Syndrome	Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo...	OMIM:135750
Eiken Syndrome	Limited elbow flexion, Broad palm, Abnormal acetabulum morphology, Narrow pelvis bone, Cubitus va...	ORPHA:79106
Mulibrey Nanism	Hepatomegaly, Cachexia, Intrauterine growth retardation, Short stature	ORPHA:2576
Atelosteogenesis Type I	Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft vertebrae, Talipes equ...	ORPHA:1190
Coxopodopatellar Syndrome	Aplasia/Hypoplasia of the patella, Abnormality of the knee, Abnormality of epiphysis morphology, ...	ORPHA:1509
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Short clavicles, Talipes e...	OMIM:309350
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Short greater sciatic notch, Flared femoral metaphysis, Kyphoscoliosis, Pl...	OMIM:184253
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Micrognathia, Adducted thumb, Small for gestational age, Decreased fibular diameter, Limb undergr...	OMIM:616897
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Endove Syndrome, Limb-Only Type	Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d...	OMIM:619217
Brachydactyly-Preaxial Hallux Varus Syndrome	Micrognathia, Radial club hand, Short metatarsal, Preaxial hand polydactyly, Short metacarpal, Br...	ORPHA:1278
Acromesomelic Dysplasia, Hunter-Thompson Type	Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ...	ORPHA:968
Van Den Ende-Gupta Syndrome	Hallux valgus, Narrow foot, Talipes equinovarus, Glenoid fossa hypoplasia, Malar flattening, Join...	OMIM:600920
Weyers Ulnar Ray/Oligodactyly Syndrome	Micrognathia, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, H...	OMIM:602418
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun...	OMIM:176240
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis...	ORPHA:1275
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Kyphosis, Anterior t...	OMIM:112350
Ulna Metaphyseal Dysplasia Syndrome	Abnormality of the ulna, Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies,...	ORPHA:1837
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Galactose Epimerase Deficiency	Hepatomegaly, Growth delay, Weight loss, Splenomegaly, Jaundice	ORPHA:79238
Postaxial Acrofacial Dysostosis	Abnormal foot morphology, Micrognathia, Malar flattening, Congenital hip dislocation, Hypoplasia ...	OMIM:263750
Spondyloepimetaphyseal Dysplasia, Missouri Type	Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Pear-shaped vertebrae, Knee osteoa...	ORPHA:93356
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short femur, Elbow flexio...	OMIM:210710
Beukes Hip Dysplasia	Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Avascular necrosis of the capit...	OMIM:142669
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Amelia, Short femur, Scoliosis, Foot oligodactyly	OMIM:601357
Acromesomelic Dysplasia 1	Short metatarsal, Thoracolumbar interpediculate narrowness, Hypoplasia of the radius, Long hallux...	OMIM:602875
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Genu varum, Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Broad femoral neck, ...	OMIM:609325
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Irregular vertebral endplates, Beaking of vertebral bodies, Enlarged meta...	OMIM:609616
Epiphyseal Dysplasia, Multiple, 1	Irregular epiphyses, Small epiphyses, Irregular vertebral endplates, Avascular necrosis of the ca...	OMIM:132400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Brachydactyly, Hip dysplasi...	ORPHA:2370
Multiple Epiphyseal Dysplasia, Beighton Type	Abnormal hip joint morphology, Thoracic scoliosis, Abnormality of tibial epiphyses, Double-layere...	ORPHA:166011
Distal Trisomy 5Q	Carious teeth, Micrognathia, Hypoplasia of the radius, Microcephaly, Absent thumb, Hypoplasia of ...	ORPHA:96097
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Coxa valga, Short greater sciatic notch, Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Microcephaly, Short Stature, And Limb Abnormalities	Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Microcephaly, Short metacarpa...	OMIM:617604
Acrorenal-Mandibular Syndrome	Toe syndactyly, Micrognathia, Butterfly vertebrae, Hypoplastic scapulae, Hemivertebrae, Kyphoscol...	OMIM:200980
Acro-Renal-Ocular Syndrome	Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb...	ORPHA:959
Microphthalmia With Limb Anomalies	Talipes equinovarus, Abnormal form of the vertebral bodies, Finger syndactyly, Hypoplasia of the ...	ORPHA:1106
Orofaciodigital Syndrome Iv	Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl...	OMIM:258860
Distal Arthrogryposis Type 1	Adducted thumb, Rocker bottom foot, Talipes, Ulnar deviation of finger, Overlapping fingers, Camp...	ORPHA:1146
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive	Hepatomegaly, Failure to thrive secondary to recurrent infections, Lymphadenopathy, Splenomegaly,...	OMIM:608971
Pycnodysostosis	Carious teeth, Micrognathia, Delayed eruption of permanent teeth, Abnormality of pelvic girdle bo...	OMIM:265800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Juberg-Hayward Syndrome	Toe syndactyly, Abnormality of the elbow, Hammertoe, Abnormal vertebral morphology, Hypoplasia of...	ORPHA:2319
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Thalidomide Embryopathy	Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t...	ORPHA:3312
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Hypoplastic iliac wing, Mandibular prognathia, Kyphosis, Hip dysplasia, Short distal phalanx of f...	ORPHA:1858
Hemoglobin H Disease	Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia	OMIM:613978
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Micrognathia, Beaking of vertebral bodies, Talipes equinovarus, Abnormality of the elbow, Abnorma...	ORPHA:93359
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects	Micrognathia, Absent radius, Aplasia of the 1st metacarpal, Hypoplasia of the ulna, Clinodactyly ...	OMIM:600123
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Talipes equinovarus, Cubitus valgus, Pes planus, Delayed eruption of teeth, Deviation of the 5th ...	OMIM:143095
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Thickened cortex of long bones, Metatarsal diaphyseal endosteal scleros...	OMIM:144750
Dyggve-Melchior-Clausen Disease	Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus, Rhizomelic ar...	OMIM:223800
Hip Dysplasia, Beukes Type	Abnormality of epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the femoral head, ...	ORPHA:2114
Brachymesomelia-Renal Syndrome	Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu...	OMIM:113470
Progressive Pseudorheumatoid Arthropathy Of Childhood	Abnormal ilium morphology, Irregularity of vertebral bodies, Genu varum, Abnormal hip joint morph...	ORPHA:1159
Omodysplasia 1	Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Malar flattening...	OMIM:258315
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Failure to thrive, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:618495
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t...	OMIM:119100
Duane-Radial Ray Syndrome	Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius...	OMIM:607323
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Intrauterine growth retardation, Short stature, Splenomegaly	OMIM:618541
Langer Mesomelic Dysplasia	Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o...	ORPHA:2632
Ophthalmomandibulomelic Dysplasia	Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the radius, Symphalangism affecting the ...	ORPHA:2741
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Extramedullary he...	OMIM:615285
Fibular Aplasia-Complex Brachydactyly Syndrome	Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph...	ORPHA:2639
Short Rib-Polydactyly Syndrome	Abnormal ilium morphology, Short ribs, Syndactyly, Abnormal pelvis bone morphology, Abnormal foot...	ORPHA:1505
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand	OMIM:228250
Dysostosis Multiplex, Ain-Naz Type	Hemivertebrae, Hypoplastic iliac wing, Glenoid fossa hypoplasia, Elongated femoral neck, Hip disl...	OMIM:619345
Alagille Syndrome	Micrognathia, Failure to thrive, Abnormal form of the vertebral bodies, Spina bifida occulta, Sho...	ORPHA:52
Autosomal Recessive Omodysplasia	Micrognathia, Abnormality of femur morphology, Rhizomelia, Abnormality of the metaphysis, Abnorma...	ORPHA:93329
Acrofacial Dysostosis, Rodríguez Type	Hand oligodactyly, Talipes equinovarus, Aplasia/Hypoplasia of the radius, Abnormal form of the ve...	ORPHA:1788
Boomerang Dysplasia	Poorly ossified vertebrae, Abnormality of the ulna, Abnormality of femur morphology, Abnormally o...	ORPHA:1263
Slc35A2-Cdg	Metatarsus adductus, Failure to thrive in infancy, Talipes equinovarus, Aplasia/hypoplasia involv...	ORPHA:356961
Heart-Hand Syndrome Type 2	Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th...	ORPHA:1350
Spondyloepimetaphyseal Dysplasia, Irapa Type	Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Short metatars...	OMIM:271650
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Microcephaly	ORPHA:3469
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplastic iliac body, Hypoplasia of the femoral head, Cubitus valgus, Ov...	OMIM:617396
Trisomy 4P	Carious teeth, Radial club hand, Camptodactyly of finger, Preaxial hand polydactyly, Scoliosis, M...	ORPHA:1738
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Failure to thrive, Splenomegaly, Cholestasis, Jaundice	ORPHA:172
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Nonopposable triphalangeal thumb, Hypoplasia of the radius	OMIM:179250
Spondyloepimetaphyseal Dysplasia, X-Linked	Metaphyseal irregularity, Long fibula, Limited elbow extension, Anterior wedging of T12, Hypoplas...	OMIM:300106
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Bowing of the long bones, Arachnodactyly, Sandal gap, Craniofacial hyperostosis, Abnormality of p...	ORPHA:2725
Acromesomelic Dysplasia 4	Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,...	OMIM:619636
Craniometaphyseal Dysplasia, Autosomal Dominant	Club-shaped distal femur, Mandibular prognathia, Metaphyseal widening, Calvarial osteosclerosis, ...	OMIM:123000
Rhizomelic Syndrome, Urbach Type	Micrognathia, Triphalangeal thumb, Abnormality of the knee, Abnormality of the elbow, Abnormality...	ORPHA:3098
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Short stature, Abdominal obesity, Truncal obesity	OMIM:618160
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Large for gestational age, Macrocephaly, Ankle clonus, Hypoplasia of the ulna, Scoliosis	OMIM:615398
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Camptodactyly, Microcephaly, Short tibia	OMIM:258865
Femoral-Facial Syndrome	Toe syndactyly, Micrognathia, Talipes equinovarus, Hemivertebrae, Hypoplastic acetabulae, Short f...	OMIM:134780
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus...	ORPHA:1836
Radial Ray Hypoplasia With Choanal Atresia	Small thenar eminence, Short thumb, Distally placed thumb, Hypoplasia of the radius	OMIM:179270
Osteogenesis Imperfecta, Type V	Biconcave vertebral bodies, Limited pronation/supination of forearm, Vertebral wedging, Pes planu...	OMIM:610967
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Splenomegaly, Mastocytosis	ORPHA:66661
Thoracomelic Dysplasia	Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ...	ORPHA:1803
Anemia, Congenital Dyserythropoietic, Type Iv	Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Short stature, Anemia, Splenome...	OMIM:613673
Galactosemia Iii	Jaundice, Hepatomegaly, Failure to thrive, Splenomegaly	OMIM:230350
Laurin-Sandrow Syndrome	Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia...	ORPHA:2378
Solitary Bone Cyst	Abnormal ilium morphology, Abnormality of the medullary cavity of the long bones, Abnormal form o...	ORPHA:83468
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Ele...	ORPHA:79301
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ...	OMIM:607685
Desbuquois Dysplasia 1	Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Malar flattening, ...	OMIM:251450
Tyrosinemia Type 1	Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Irregular epiphyses, Early ossification of capital femoral epiphyses, Hypoplastic iliac wing, Met...	OMIM:208500
Eiken Syndrome	Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger...	OMIM:600002
Baller-Gerold Syndrome	Micrognathia, Aplasia of metacarpal bones, Carpal bone aplasia, Aplasia/Hypoplasia of the thumb, ...	OMIM:218600
Dyggve-Melchior-Clausen Disease	Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Iliac crest serration, Limit...	ORPHA:239
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality...	ORPHA:2768
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Hyp...	OMIM:210720
Odontochondrodysplasia	Cone-shaped epiphysis, Bowing of the long bones, Abnormality of the metaphysis, Delayed eruption ...	ORPHA:166272
Seckel Syndrome 1	Micrognathia, Single transverse palmar crease, Ivory epiphyses, Talipes, Dislocated radial head, ...	OMIM:210600
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Spondyloepimetaphyseal Dysplasia, Irapa Type	Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Abnormality of epiphysis mor...	ORPHA:93351
Acromesomelic Dysplasia 2B	Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S...	OMIM:228900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth...	ORPHA:3035
Sheldon-Hall Syndrome	Tarsal synostosis, Micrognathia, Adducted thumb, Ulnar deviation of finger, Aplasia/Hypoplasia of...	ORPHA:1147
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Micrognathia, Abnormality of femur morphology, Limb undergrowth, Abnormal form...	ORPHA:3429
Rothmund-Thomson Syndrome	Carious teeth, Aplasia/Hypoplasia of the patella, Small for gestational age, Aplasia/Hypoplasia o...	ORPHA:2909
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Ulnar-Mammary Syndrome	Short 5th toe, Short clavicles, Hypoplastic scapulae, Short 4th toe, Aplasia of the ulna, Obesity...	OMIM:181450
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Short stature, Splenomegaly	ORPHA:417
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Intrauterine growth retardation, Failure to thrive, Decreased liver function, Hepatic steatosis, ...	OMIM:617093
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Hepatomegaly, Weight loss, Splenomegaly	ORPHA:86893
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion...	OMIM:603902
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Phocomelia, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, Foot polydac...	ORPHA:3186
Spondyloepimetaphyseal Dysplasia, Shohat Type	Genu varum, Limb undergrowth, Metaphyseal irregularity, Short ribs, Delayed epiphyseal ossificati...	OMIM:602557
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib...	ORPHA:988
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti...	OMIM:237800
Steinfeld Syndrome	Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormal vertebral morphology, Missing ribs, Hypopla...	OMIM:184705
Hydrocephalus With Associated Malformations	Abnormal foot morphology, Short lower limbs, Micrognathia, Tibial bowing, Lower limb undergrowth	OMIM:236640
Sea-Blue Histiocyte Disease	Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly	OMIM:269600
Immunodeficiency 54	Hepatomegaly, Intrauterine growth retardation, Short stature, Failure to thrive, Lymphadenopathy,...	OMIM:609981
Grant Syndrome	Down-sloping shoulders, Micrognathia, Tibial bowing	OMIM:138930
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Malar flattening, Finger s...	OMIM:274000
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro...	OMIM:133180
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Tibial bowing, Fibular bowing, Coronal cleft vertebrae, Abnormal vertebral morpholo...	ORPHA:1427
Phocomelia, Schinzel Type	Fibular aplasia, Micrognathia, Radial bowing, Hand oligodactyly, Talipes, Aplasia of the ulna, Bo...	ORPHA:2879
Epiphyseal Dysplasia, Baumann Type	Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation...	OMIM:610797
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Abnormality of the knee, Cubitus valgus, Prominent calcaneus, Malar flattening, Pes planus, Toe c...	ORPHA:457395
Cerebrocostomandibular Syndrome	Micrognathia, Malar flattening, Congenital hip dislocation, Calcaneal epiphyseal stippling, 11 pa...	OMIM:117650
Congenital Toxoplasmosis	Hepatomegaly, Failure to thrive in infancy, Intrauterine growth retardation, Ascites, Lymphadenop...	ORPHA:858
Cranioectodermal Dysplasia 1	Triphalangeal hallux, Rhizomelia, Broad toe, Fibular hypoplasia, Short ribs, Clinodactyly, Radial...	OMIM:218330
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Micrognathia, 2-3 toe syndactyly, Radial bowing, Vertebral wedging, Postaxial polydactyly, Missin...	OMIM:617866
Ulbright-Hodes Syndrome	Fibular aplasia, Ovoid thoracolumbar vertebrae, Micrognathia, Abnormal forearm bone morphology, T...	ORPHA:3404
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly	OMIM:183350
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Hypochromia, Growth delay, Anemia, Splenomegaly, Poikilocytosis, Decreased mean cor...	OMIM:615234
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly	ORPHA:100024
Pelvis-Shoulder Dysplasia	Micrognathia, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protruding c...	ORPHA:2839
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Hand polydactyly, Finger clinodactyly, Short tibia, Cone-shaped ...	ORPHA:2751
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Growth delay, Erythroid hyperplasia, Short stature, Anemia, Splenomegaly, Anisocyto...	OMIM:615631
Mesomelia-Synostoses Syndrome	Abnormal foot morphology, Micrognathia, Abnormality of femur morphology, Abnormality of the knee,...	ORPHA:2496
Occipital Horn Syndrome	Short clavicles, Capitate-hamate fusion, Limited knee extension, Pes planus, Platyspondyly, Genu ...	OMIM:304150
Sc phocomelia syndrome	Micrognathia, Phocomelia, Aplasia of the ulna, Knee flexion contracture, Absent radius, Radial de...	OMIM:269000
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short femur, Failure to thrive, Large hands, Long fingers, Long foot, Malar flatten...	OMIM:264090
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Absent tibia, Polydactyly	OMIM:188740
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Ulnar deviation of finger, Truncal obesity, Camptodactyly of finger, Abnormality of pelvic girdle...	ORPHA:2928
Immunodeficiency 69	Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Hepatosplenomegaly, Pancyt...	OMIM:618963
Marshall Syndrome	Macrodontia of permanent maxillary central incisor, Irregular proximal tibial epiphyses, Microgna...	OMIM:154780
Glycogen Storage Disease Ixc	Hepatomegaly, Growth delay, Increased hepatic glycogen content, Bile duct proliferation, Splenome...	OMIM:613027
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp...	ORPHA:96334
Platyspondylic Dysplasia, Torrance Type	Abnormality of the carpal bones, Genu varum, Hypoplastic scapulae, Bowing of the long bones, Mala...	ORPHA:85166
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Postaxial polydactyly, Short ribs, Hypoplasia of the radius, Syndactyly, Relative macrocephaly, M...	OMIM:617895
Acrofacial Dysostosis 1, Nager Type	Hallux valgus, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, Aplasia/Hypopl...	OMIM:154400
Jeune Syndrome	Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ...	ORPHA:474
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Hepatocellular carcinoma, Short stature, Failure to thrive, Splenomegaly, Cirrhosis...	OMIM:601847
Otopalatodigital Syndrome, Type Ii	Nonossified fifth metatarsal, Short metatarsal, Malar flattening, Short ribs, Broad hallux, Bulbo...	OMIM:304120
Microgastria-Limb Reduction Defects Association	Hand oligodactyly, Phocomelia, Failure to thrive, Hypoplasia of the radius, Absent thumb, Hypopla...	OMIM:156810
Nager Syndrome	Micrognathia, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the thumb, Abnormality of th...	ORPHA:245
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Rhizomelic arm shortening, Short metacarpal, Short humerus, Brachydactyly	ORPHA:508542
Microphthalmia With Limb Anomalies	Toe syndactyly, Tibial bowing, Hand oligodactyly, Talipes equinovarus, Camptodactyly of 2nd-5th f...	OMIM:206920
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Short clavicles, Hypoplastic scapulae, Absent thumb, Retrognathia, Bowed humerus, Bilateral talip...	OMIM:618022
Hypophosphatemic Rickets, X-Linked Dominant	Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul...	OMIM:307800
Geroderma Osteodysplasticum	Biconcave vertebral bodies, Tibial bowing, Irregular vertebral endplates, Mandibular prognathia, ...	OMIM:231070
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis	OMIM:618852
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Campomelic Dysplasia	Micrognathia, Shortening of all phalanges of the toes, Shortening of all phalanges of fingers, Ta...	OMIM:114290
Nail-Patella Syndrome	Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Hypoplasia of first ribs, Iliac h...	OMIM:161200
Orofaciodigital Syndrome X	Fibular aplasia, Hand oligodactyly, Coalescence of tarsal bones, Retrognathia, Preaxial hand poly...	OMIM:165590
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Failure to thrive, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Fanconi Anemia, Complementation Group O	Short thumb, Absent thumb, Hypoplasia of the radius	OMIM:613390
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormality of pelvic girdle bone morphology, Macrocephaly, Slender long bone	ORPHA:1506
Achondrogenesis, Type Ia	Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi...	OMIM:200600
Cleidocranial Dysplasia	Sinusitis, Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormali...	ORPHA:1452
Tetraploidy	Biparietal narrowing, Micrognathia, Radial club hand, Microcephaly	ORPHA:3305
Codas Syndrome	Coronal cleft vertebrae, Abnormality of epiphysis morphology, Abnormal form of the vertebral bodi...	ORPHA:1458
Cousin Syndrome	Fibular aplasia, Toe syndactyly, Micrognathia, 2-3 toe syndactyly, 4-5 toe syndactyly, Talipes eq...	OMIM:260660
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micrognathia, Postaxial polydactyly, Fibular hypoplasia, Short ribs, Preaxial polydactyly, Hypopl...	OMIM:617925
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Acholic stools, Failure to thrive, Hepatitis, Splenomegaly, Cirrhosis, Hepatic fail...	OMIM:613812
Hemochromatosis, Type 2B	Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Cirrhosis, Elevated hepatic...	OMIM:613313
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Broad palm, Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metap...	ORPHA:2502
Satoyoshi Syndrome	Genu varum, Abnormality of femur morphology, Abnormality of the knee, Tapered finger, Abnormality...	ORPHA:3130
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Hallux valgus, Talipes equinovarus, Malar flattening, Epiphyseal dysplasia, Pes planus, 11 pairs ...	OMIM:271640
Immunodeficiency 16	Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly	OMIM:615593
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Spurred m...	ORPHA:93284
Tibia, Absence Of, With Congenital Deafness	Absent tibia	OMIM:275230
Czech Dysplasia	Flat capital femoral epiphysis, Irregular vertebral endplates, Short metatarsal, Platyspondyly, N...	OMIM:609162
Fanconi Anemia, Complementation Group P	Micrognathia, Hypoplasia of the radius, Short thumb, Absent thumb, Microcephaly	OMIM:613951
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Micrognathia, Abnormality of the ulna, Triphalangeal thumb, Abnorm...	ORPHA:84
Osteopetrosis, Autosomal Dominant 1	Abnormality of pelvic girdle bone morphology, Thickened cortex of long bones, Mandibular pain, Ca...	OMIM:607634
Campomelic Dysplasia	Micrognathia, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of the...	ORPHA:140
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Limited pronation/supination of forearm, Radial bowing, Ulnar bowing, Hip dislocation, Shallow ac...	OMIM:605432
Coxoauricular Syndrome	Abnormality of pelvic girdle bone morphology, Hip dislocation, Abnormality of femur morphology, M...	ORPHA:1508
Schneckenbecken Dysplasia	Diaphyseal thickening, Hypoplastic scapulae, Abnormal form of the vertebral bodies, Malar flatten...	ORPHA:3144
Multiple Osteochondromas	Short lower limbs, Abnormal lower limb bone morphology, Abnormality of the knee, Femoroacetabular...	ORPHA:321
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis	OMIM:271500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Bowed humerus, Trident pelvis, Short long bone, Short humerus, Brachydactyly	OMIM:619479
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia	OMIM:156232
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:619658
Fanconi Anemia, Complementation Group W	Microcephaly, Abnormality of radial ray, Absent thumb, Hypoplasia of the radius	OMIM:617784
Anemia, Congenital Dyserythropoietic, Type Ia	Mild postnatal growth retardation, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocyto...	OMIM:224120
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hypoplastic iliac wing, Platyspondyly, Kyphosis, Coxa vara, Hypoplasia of th...	OMIM:313400
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ...	OMIM:119800
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Micrognathia, Synostosis of carpal bones, Finger syndactyly, Hyperlordosis, Camptodactyly of fing...	ORPHA:1323
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Genu varum, Fibular bowing, Tibial bowing, Bowing of the long bones, Metaphyseal irregularity, De...	OMIM:600785
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa...	OMIM:616278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Cardiomegaly	ORPHA:88643
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/Hypoplasia of the phalanges of the toes, Aplasia/hypoplasia of the extremities, Phocomeli...	OMIM:276820
Harrod Syndrome	Failure to thrive, Arachnodactyly, Kyphosis, Dental malocclusion, Abnormality of pelvic girdle bo...	ORPHA:2115
Aredyld Syndrome	Cachexia, Mandibular prognathia, Abnormal dental enamel morphology, Advanced eruption of teeth, C...	ORPHA:1133
Tarp Syndrome	Micrognathia, Talipes equinovarus, Postaxial polydactyly, Failure to thrive, Hypoplasia of the ra...	OMIM:311900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Polydactyly, Failure to thrive, Short humerus, Short femur, Microcephaly	ORPHA:17
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho...	OMIM:617394
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans...	OMIM:214900
Wolman Disease	Hepatomegaly, Cachexia, Growth delay, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Hepa...	ORPHA:75233
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ...	OMIM:113310
Fibrochondrogenesis 1	Broad ischia, Broad long bones, Hypoplastic scapulae, Posterior vertebral hypoplasia, Rhizomelia,...	OMIM:228520
Ventriculomegaly With Defects Of The Radius And Kidney	Forearm undergrowth, Absent thumb, Bowed forearm bones, Absent radius	OMIM:602200
Hemoglobin C-Beta-Thalassemia Syndrome	Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:231242
Ivic Syndrome	Triphalangeal thumb, Aplastic clavicle, Synostosis of carpal bones, Hypoplasia of the radius, Sho...	ORPHA:2307
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp...	OMIM:616860
Camurati-Engelmann Disease	Carious teeth, Abnormality of the ulna, Metaphyseal dysplasia, Aplasia/Hypoplasia of the radius, ...	ORPHA:1328
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Short stature, Failure to thrive, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahep...	OMIM:211600
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Intermittent jaundice, Splenomegaly	OMIM:179700
Radio-Renal Syndrome	Micrognathia, Abnormality of the elbow, Abnormal form of the vertebral bodies, Hypoplasia of the ...	ORPHA:3015
Nephronophthisis 19	Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis	OMIM:616217
Moebius Syndrome	Micrognathia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Pes planus, Aplasia/Hy...	OMIM:157900
Boomerang Dysplasia	Fibular aplasia, Hypoplastic iliac body, Absent radius	OMIM:112310
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Short thumb, Absent thu...	OMIM:609053
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Tibial bowing, Fibular bowing, Metaphyseal chondrodysplasia, Femoral bowing, Aplasia/Hypoplasia o...	ORPHA:85165
Grant Syndrome	Abnormality of the glenoid fossa, Abnormality of pelvic girdle bone morphology, Micrognathia, Bow...	ORPHA:2097
Osteopetrosis, Autosomal Dominant 2	Fractures of the long bones, Abnormality of pelvic girdle bone morphology, Mandibular osteomyelit...	OMIM:166600
Acrocraniofacial Dysostosis	Micrognathia, Triphalangeal thumb, Tapered finger, Ulnar deviation of finger, Partial duplication...	ORPHA:949
Ulnar Agenesis And Endocardial Fibroelastosis	Aplasia of the ulna, Hand oligodactyly	OMIM:276822
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic...	OMIM:602347
Al-Gazali Syndrome	Micrognathia, Failure to thrive, Broad distal phalanx of finger, Wrist flexion contracture, Proxi...	OMIM:609465
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Failure to thrive, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, In...	OMIM:235555
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Polysyndactyly of hallux, Disproportionate shortening of the tibia, Short ribs, Postaxial polysyn...	OMIM:263520
Osteogenesis Imperfecta, Type Ii	Tibial bowing, Broad long bones, Small for gestational age, Limb undergrowth, Platyspondyly, Crum...	OMIM:166210
Holt-Oram Syndrome	Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Split hand,...	ORPHA:392
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Micrognathia, Talipes equinovarus, Talipes, Broad distal phalanx of finger, Pes planus, Delayed e...	OMIM:300990
Sponastrime Dysplasia	Metaphyseal irregularity, Obtuse angle of mandible, Pes planus, Shallow acetabular fossae, Hip su...	ORPHA:93357
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Enlargement of the w...	OMIM:277440
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Intrauterine growth retardation, Hepatic fibrosis, Small...	OMIM:606003
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Carnitine Deficiency, Systemic Primary	Decreased carnitine level in liver, Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive,...	OMIM:212140
Roberts Syndrome	Phocomelia, Aplasia/Hypoplasia of the thumb, Malar flattening, Proximal placement of thumb, Hypop...	ORPHA:3103
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Talipes equinovarus, Capitate-hamate fusion, Epiphyseal d...	OMIM:272460
Congenital Insensitivity To Pain With Severe Intellectual Disability	Micrognathia, Tibial bowing, Rocker bottom foot, Small for gestational age, Congenital bilateral ...	ORPHA:453510
Familial Osteodysplasia, Anderson Type	Carious teeth, Bifid femur, Failure of eruption of permanent teeth, Mandibular prognathia, Abnorm...	ORPHA:2769
Tibial Hemimelia	Absent tibia	OMIM:275220
Occipital Horn Syndrome	Absent tibia, Aplastic clavicle, Pes planus, Humerus varus, Kyphosis, Abnormality of the wrist, C...	ORPHA:198
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Tibial bowing, Fibular bowing, Subperiosteal bone resorption, Enlargement of the wrists, Bowing o...	OMIM:264700
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Failure to thrive, Hepatic fai...	OMIM:214950
Wiedemann-Rautenstrauch Syndrome	Irregular sclerotic endplates, 2-3 toe syndactyly, Failure to thrive, Hypoplastic vertebral bodie...	ORPHA:3455
Lacrimoauriculodentodigital Syndrome	Carious teeth, Conical incisor, Radial deviation of the 3rd finger, Absent proximal phalanx of th...	OMIM:149730
Osteogenesis Imperfecta, Type Iii	Biconcave vertebral bodies, Micrognathia, Tibial bowing, Kyphosis, Dentinogenesis imperfecta, Pro...	OMIM:259420
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice	OMIM:224100
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, 2-3 toe syndactyly, Eruption failure, Tapered finger, Failure to thrive, Partial ab...	ORPHA:476126
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Tibial bowing, Fibular bowing, Enlargement of the wrists, Bowing of the legs, Failure to thrive, ...	OMIM:600081
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Acetabular dysplasia, Retrognathia, Femoral bowing, Hypoplasia of the maxilla, Decr...	OMIM:616462
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Acholic stools, Failure to thrive, Splenomegaly, Cirrhosis, H...	OMIM:607765
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hepatocellular necrosis, Growth delay, Ascites, Failure to thrive, Depletion of mit...	OMIM:251880
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia, Madelung deformity	ORPHA:1765
Alpha-Thalassemia	Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo...	ORPHA:846
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Growth delay, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocyt...	OMIM:611490
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing	OMIM:166740
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	Broad long bones, Short metacarpal, Abnormality of pelvic girdle bone morphology, Short phalanx o...	ORPHA:1422
Lysosomal Acid Lipase Deficiency	Hepatomegaly, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia, Failure to thrive, Bo...	OMIM:278000
Renal Dysplasia-Limb Defects Syndrome	Fibular aplasia, Micrognathia, Talipes equinovarus, Phocomelia, Aplasia of the ulna, Short ribs, ...	OMIM:266910
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Short long bone,...	ORPHA:93315
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing	OMIM:617993
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Biparietal narrowing, Dental malocclusion, Abnormality of pelvic girdle bo...	ORPHA:3079
Budd-Chiari Syndrome	Hepatomegaly, Ascites, Peritonitis, Weight loss, Splenomegaly, Cirrhosis, Acute hepatic failure, ...	ORPHA:131
Diamond-Blackfan Anemia 1	Bifid thoracic vertebrae, Micrognathia, Triphalangeal thumb, Failure to thrive, Hypoplastic sacra...	OMIM:105650
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen...	OMIM:619463
Meier-Gorlin Syndrome 1	Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Short ribs, Joint contracture of th...	OMIM:224690
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies	Radial bowing, Talipes equinovarus, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, ...	OMIM:601027
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Intrauterine growth retardation, Pericardial effusion, Small for gestational age, R...	ORPHA:555874
Hemoglobin E Disease	Hypochromia, Intrauterine growth retardation, Hypochromic microcytic anemia, Increased red blood ...	ORPHA:2133
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Weight loss, Extrahepatic cholestasis, Jaundice	ORPHA:99978
Attrv30M Amyloidosis	Weight loss, Cardiomegaly, Cardiomyopathy	ORPHA:85447
Chondrodysplasia Punctata 2, X-Linked Dominant	Tarsal stippling, Polydactyly, Hemivertebrae, Postaxial polydactyly, Epiphyseal stippling, Failur...	OMIM:302960
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis	Tibial bowing, Platyspondyly, Cervical kyphosis, Femoral bowing, Absent ossification of capital f...	OMIM:245160
Otopalatodigital Syndrome Type 2	Fibular aplasia, Tarsal synostosis, Micrognathia, Hypoplastic frontal sinuses, Failure to thrive,...	ORPHA:90652
Neuraminidase Deficiency	Hepatomegaly, Ascites, Short stature, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegal...	OMIM:256550
Cartilage-Hair Hypoplasia	Hypoplasia of the odontoid process, Metaphyseal dysplasia, Metaphyseal widening, Limited elbow ex...	OMIM:250250
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Genu varum, Mandibular prognathia, Hypoplasia of the zygomatic bone, Abnormal hip ...	ORPHA:1110
Osteogenesis Imperfecta, Type Viii	Tibial bowing, Radial bowing, Platyspondyly, Kyphosis, Short metacarpal, Vertebral compression fr...	OMIM:610915
Omenn Syndrome	Hepatomegaly, B lymphocytopenia, Failure to thrive, Lymphadenopathy, Hypoplasia of the thymus, An...	OMIM:603554
Craniosynostosis With Fibular Aplasia	Fibular aplasia, Single transverse palmar crease	OMIM:218550
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Macrovesicular hepatic steatosis, Elevated he...	OMIM:600649
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Ventricular septal defect, Biventricular hypertrophy, Small for gestational age, Ab...	ORPHA:860
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal...	OMIM:616689
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Microcephaly, Abnormality of the radius	ORPHA:2165
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Deformed humerus, Micrognathia, Dislocated radial head, Hypoplasia of the premaxilla, Mandibular ...	ORPHA:2975
Infantile Liver Failure Syndrome 3	Hepatomegaly, Short stature, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis,...	OMIM:618641
Alagille Syndrome 1	Hemivertebrae, Failure to thrive, Short distal phalanx of finger, Butterfly vertebral arch, Hypop...	OMIM:118450
Duane Retraction Syndrome	Micrognathia, Triphalangeal thumb, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Abnormal...	ORPHA:233
Congenital Bile Acid Synthesis Defect Type 2	Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t...	ORPHA:79303
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Rhyns Syndrome	Short femoral neck, Radial bowing, Brachydactyly	OMIM:602152
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Familial Atrial Myxoma	Bacterial endocarditis, Cardiac myxoma, Ascites, Cardiomegaly, Cholestasis, Pulmonic valve myxoma...	ORPHA:615
Sclerosteosis 1	Mandibular prognathia, Malar flattening, Deviation of finger, Dental malocclusion, Facial palsy s...	OMIM:269500
Charge Syndrome	Micrognathia, Absent tibia, Bifid femur, Hand monodactyly, Hemivertebrae, Malar flattening, Absen...	OMIM:214800
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:185000
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Short stature, Splenomegaly	ORPHA:66518
Hemochromatosis, Type 1	Hepatomegaly, Hepatocellular carcinoma, Ascites, Cardiomegaly, Cardiomyopathy, Splenomegaly, Cirr...	OMIM:235200
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Abnormal vertebral morphology	OMIM:276950
Vacterl With Hydrocephalus	Micrognathia, Hemivertebrae, Abnormal form of the vertebral bodies, Absence of the sacrum, Hypopl...	ORPHA:3412
Glycogen Storage Disease Xii	Normocytic anemia, Short stature, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyt...	OMIM:611881
Camptodactyly Syndrome, Guadalajara, Type I	Hallux valgus, Short metatarsal, Cubitus valgus, Malar flattening, Absent frontal sinuses, Toe sy...	OMIM:211910
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecys...	OMIM:266200
Radial-Renal Syndrome	Absent thumb, Absent radius	OMIM:179280
Ulnar-Mammary Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of the radius, Abnormality of the wrist, Abnormality ...	ORPHA:3138
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Fanconi Anemia, Complementation Group F	Failure to thrive, Hypoplasia of the radius, Short thumb, Absent thumb, 2-3 finger syndactyly, Mi...	OMIM:603467
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Bowing of the long bones, Abnormality of pelvic girdle bone morpholo...	OMIM:602080
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Abnormality of pelvic girdle bone morphology, Lumbar hyperlordosis, Shoulder gi...	OMIM:167320
8Q24.3 Microdeletion Syndrome	Pes valgus, Pes planus, Finger clinodactyly, Short femur, Microretrognathia, Thoracic scoliosis, ...	ORPHA:508488
Erythrocytosis, Familial, 8	Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti...	OMIM:222800
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Cartilage-Hair Hypoplasia	Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Limited elbow extension, Abnormalit...	ORPHA:175
Short Stature, Dauber-Argente Type	Decreased fibular diameter, Long fingers, Arachnodactyly, Delayed eruption of teeth, Long toe, Mi...	OMIM:619489
Tarp Syndrome	Micrognathia, Rocker bottom foot, Talipes equinovarus, Postaxial polydactyly, Failure to thrive, ...	ORPHA:2886
Caroli Disease	Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Weight lo...	ORPHA:53035
Isolated Biliary Atresia	Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli...	ORPHA:30391
Cardiomyopathy, Familial Hypertrophic, 4	Hypertrophic cardiomyopathy, Hepatomegaly, Pericardial effusion, Ascites, Ventricular hypertrophy...	OMIM:115197
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Hepatic fibrosis, Small for gestational age, Cholelithiasis, Splenomegaly, Biliary ...	ORPHA:567983
Hydrolethalus Syndrome 1	Micrognathia, Upper limb undergrowth, Talipes equinovarus, Duplication of phalanx of hallux, Post...	OMIM:236680
Saethre-Chotzen Syndrome	Absent first metatarsal, Hallux valgus, Toe syndactyly, Abnormality of pelvic girdle bone morphol...	OMIM:101400
Absent Radius-Anogenital Anomalies Syndrome	Oligodactyly, Ectrodactyly, Hypoplasia of the radius	ORPHA:3016
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Micrognathia, Flexion contracture of toe, Talipes equinovarus, Failure to thrive...	OMIM:300373
Spherocytosis, Type 5	Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice	OMIM:612690
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an...	OMIM:235700
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal form of the vertebral bodies, Malar flattening, Aplastic clavicle, Abnormally ossified v...	ORPHA:2636
Kinsship Syndrome	Micrognathia, Polydactyly, Mandibular prognathia, Failure to thrive, Fibular hypoplasia, Dislocat...	OMIM:619297
Hereditary Elliptocytosis	Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Postnatal growth retar...	ORPHA:288
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