Gene Summary

cellular communication network factor 3
C130088N23Rik,  CCN3,  Nov

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Ccn3em1(IMPC)Mbp HOM Early adult 0.00
anophthalmia Ccn3em1(IMPC)Mbp HOM Late adult 0.00
enlarged heart Ccn3em1(IMPC)Mbp HOM Late adult 0.00
small spleen Ccn3em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Ccn3em1(IMPC)Mbp HOM Early adult 0.00
blind uterus Ccn3em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Ccn3em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Ccn3em1(IMPC)Mbp HOM Late adult 0.00
abnormal liver morphology Ccn3em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Ccn3em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Ccn3em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Ccn3em1(IMPC)Mbp HOM Late adult 0.00

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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.


XRay Images Whole Body Lateral Orientation

17 Images


XRay Images Whole Body Dorso Ventral

12 Images


XRay Images Whole Body Dorso Ventral

51 Images


XRay Images Whole Body Lateral Orientation

4 Images

Human diseases caused by Ccn3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Ccn3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Spondyloepiphyseal Dysplasia Tarda
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... ORPHA:93284
Hepatorenocardiac Degenerative Fibrosis
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... OMIM:619902
Dyggve-Melchior-Clausen Disease
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... OMIM:223800
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular tarsal ossification, Cone-shaped epiphyses of the phalanges of the hand, Irregular carp... OMIM:226980
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... ORPHA:750
Cardiomegaly OMIM:227150
Nephronophthisis 16
Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Pulmonic stenosis, Cholestasis, Enl... OMIM:615382
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... OMIM:313400
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Metaphyseal irregularity, Kyphosis, Prominent sternum, Be... OMIM:607326
Anauxetic Dysplasia 1
Barrel-shaped chest, Short neck, Platyspondyly, Rhizomelia, Small epiphyses, Cervical subluxation... OMIM:607095
Osteogenesis Imperfecta, Type Xxi
Recurrent fractures, Coxa vara, Bowing of the legs, Pectus excavatum, Barrel-shaped chest, Bowing... OMIM:619131
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Splenomegaly, Abnormality of tibia morphology, Diaphyseal thicke... ORPHA:1802
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Upper limb undergr... ORPHA:94068
Greenberg Dysplasia
Macrocephaly, Anterior rib punctate calcifications, Hepatomegaly, Horizontal sacrum, Barrel-shape... OMIM:215140
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Mesomelic Dysplasia, Kantaputra Type
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Synostosi... ORPHA:1836
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Tricuspid stenosis, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis,... OMIM:143095
Acromesomelic Dysplasia, Hunter-Thompson Type
Joint stiffness, Brachydactyly, Abnormality of the ankles, Bilateral single transverse palmar cre... ORPHA:968
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Carpal synostosis, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... OMIM:178110
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly ORPHA:294
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val... ORPHA:93351
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Abnormality of the third metatarsal bone, Sclerosis of foot bone, Thickened cort... ORPHA:564003
Dysplasia Epiphysealis Hemimelica
Recurrent fractures, Joint stiffness, Abnormality of femur morphology, Abnormal femoral neck morp... ORPHA:1822
Spondyloperipheral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin... OMIM:271700
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Chst3-Related Skeletal Dysplasia
Enlarged joints, Kyphoscoliosis, Flexion contracture, Barrel-shaped chest, Brachydactyly, Irregul... ORPHA:263463
Mesomelic Dysplasia, Nievergelt Type
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Camptodactyly of finger, Micromelia,... ORPHA:2633
Osebold-Remondini Syndrome
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... OMIM:112910
Eiken Syndrome
Delayed epiphyseal ossification, Epiphyseal dysplasia, Abnormal bone ossification, Metaphyseal ir... ORPHA:79106
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Gnathodiaphyseal Dysplasia
Recurrent fractures, Mandibular osteomyelitis, Osteopenia, Bowing of the long bones, Thickened co... ORPHA:53697
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Synostosis of carpal bo... ORPHA:3250
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno... ORPHA:2639
Spondyloepiphyseal Dysplasia Congenita
Coxa vara, Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Atlantoaxial instability, Delayed... OMIM:183900
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... OMIM:184100
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Cystic renal dysplasia, Cholestasis, Enla... OMIM:615415
Dyggve-Melchior-Clausen Syndrome, X-Linked
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st... OMIM:304950
Tarsal-Carpal Coalition Syndrome
Carpal synostosis, Proximal symphalangism of hands, Distal symphalangism of hands, Short 1st meta... OMIM:186570
Osteogenesis Imperfecta, Type Viii
Osteopenia, Decreased calvarial ossification, Femoral bowing, Barrel-shaped chest, Platyspondyly,... OMIM:610915
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Relative macrocephaly, Metaphyseal widening, Barrel-shaped chest, Short nec... OMIM:612813
Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Curved distal p... ORPHA:3152
Smith-Mccort Dysplasia 2
Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Barrel-shaped chest, Platyspondy... OMIM:615222
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... OMIM:177170
Achondrogenesis, Type Ii
Short ribs, Barrel-shaped chest, Short tubular bones of the hand, Absent vertebral body mineraliz... OMIM:200610
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Distal upper limb muscle weakness, Limited... ORPHA:63273
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... OMIM:613496
Frontometaphyseal Dysplasia 1
Craniosynostosis, Increased density of long bone diaphyses, Scapular winging, Long foot, Partial ... OMIM:305620
Multiple Synostoses Syndrome 1
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... OMIM:186500
Metatropic Dysplasia
Narrow chest, Joint stiffness, Kyphosis, Halberd-shaped pelvis, Coarse metaphyseal trabecularizat... ORPHA:2635
Achondrogenesis, Type Ia
Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Talipe... OMIM:200600
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal ... OMIM:600785
Humero-Radial Synostosis
Elbow ankylosis, Microcephaly, Abnormality of the wrist, Iris coloboma, Tarsal synostosis, Aplasi... ORPHA:3265
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... OMIM:182255
Acromesomelic Dysplasia, Grebe Type
Joint stiffness, Short toe, Short tibia, Aplasia of the middle phalanges of the toes, Synostosis ... ORPHA:2098
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Metaphyseal widening, Barrel-shaped chest, Microcephaly, Platyspondyly, Osteoporo... OMIM:259770
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormality of the hand, Osteoarthritis, Brachydactyly, Scoliosis, Abnormality of the ... ORPHA:1657
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo... ORPHA:2790
Sheldon-Hall Syndrome
Vertebral segmentation defect, Joint stiffness, Abnormal hip bone morphology, Adducted thumb, Ove... ORPHA:1147
Brachydactyly, Type B2
Short distal phalanx of finger, Carpal synostosis, Proximal symphalangism of hands, Aplasia/Hypop... OMIM:611377
Paget Disease Of Bone 5, Juvenile-Onset
Hydroxyprolinuria, Recurrent fractures, Kyphosis, Macrocephaly, Relative macrocephaly, Increased ... OMIM:239000
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Ureteral obstruction, Cataract, Bowing of the long bones, Omp... ORPHA:90652
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Multiple Synostoses Syndrome 2
Carpal synostosis, Talipes equinovarus, Vertebral fusion, Brachydactyly, Proximal symphalangism, ... OMIM:610017
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Relative macrocephaly, Barrel-shaped chest, Short neck, Brachydactyly, Meso... ORPHA:171866
Glycopeptiduria, Tortuosity of conjunctival vessels, Lumbar hyperlordosis, Hepatomegaly, Oligosac... OMIM:230000
Liebenberg Syndrome
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... OMIM:186550
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Pectus excavatum, Camptodactyly of finger, Synostosis of carpal b... ORPHA:957
Multiple Synostoses Syndrome 3
Limited interphalangeal movement, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hall... OMIM:612961
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... ORPHA:2064
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... OMIM:208540
Aa Amyloidosis
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... ORPHA:85445
Syndactyly Type 5
Short distal phalanx of finger, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly... ORPHA:93406
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis... ORPHA:93314
Anauxetic Dysplasia 2
Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Relative macrocephaly, Flexion contract... OMIM:617396
Gne Myopathy
Scapular winging, Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, ... ORPHA:602
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Narrow chest, Spinal canal stenosis, Kyphoscoliosis, Clinodactyly of the 5th finger, 2-3 toe synd... OMIM:263540
Subaortic Stenosis--Short Stature Syndrome
Short toe, Pectus excavatum, Membranous subvalvular aortic stenosis, Small hand, Barrel-shaped ch... OMIM:271960
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Winchester Syndrome
Broad metacarpals, Kyphosis, Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysi... OMIM:277950
Brachyolmia Type 3
Kyphosis, Barrel-shaped chest, Platyspondyly, Short neck, Short femoral neck, Scoliosis, Clinodac... OMIM:113500
Congenital Megacalycosis
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... ORPHA:93109
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Parti... ORPHA:363417
Talonavicular Coalition
Clinodactyly of the 5th finger, Abnormality of the ankles, Short hallux, Coalescence of tarsal bo... OMIM:186750
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Coxa vara, Flat capital femoral epiphysis, Short femur, Wide capital femoral epiphyses, Pes planu... OMIM:147891
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Craniosynostosis, Adelaide Type
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... OMIM:600593
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Reduced bone mineral density, Foot acroosteolysis, Tapered finger, ... ORPHA:970
Brachydactyly, Mononen Type
Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ... OMIM:301940
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Synpolydactyly 2
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... OMIM:608180
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Antecubital pterygium, Talipes equinovarus, Flexion contracture, Fused thoracic vertebrae, Short ... OMIM:618469
Nievergelt Syndrome
Talipes equinovarus, Radioulnar synostosis, Metatarsal synostosis, Mesomelia, Genu valgum, Tarsal... OMIM:163400
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Irregular vertebral endplates, Hip contracture, Advanced ossification of carpal bones, Kyphoscoli... OMIM:618363
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u... ORPHA:85188
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Reduced bone min... OMIM:617974
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Familial Expansile Osteolysis
Osteolysis, Thin bony cortex, Bowing of the long bones, Pathologic fracture OMIM:174810
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Coxa vara, Abnormal bone ossification, Abnormal... ORPHA:2114
Symphalangism, Proximal, 1A
Carpal synostosis, Proximal symphalangism of hands, Aplasia/Hypoplasia of the middle phalanges of... OMIM:185800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, EMG: myopathic abnormalities, Calf muscle hypertrophy, Limb-girdle muscle at... OMIM:608099
Holt-Oram Syndrome
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Hypoplasia of the ... OMIM:142900
Caffey Disease
Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bones, Joint hypermobili... OMIM:114000
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... OMIM:607778
Synostoses, Tarsal, Carpal, And Digital
Carpal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Tarsal synostosis, Rad... OMIM:186400
Jackson-Weiss Syndrome
2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar... OMIM:123150
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Brachydactyly, Long thorax, Mesomelia, Abnormal shoulder morpho... ORPHA:1277
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... OMIM:617719
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Splenomegaly, Abnormality of limb bone morphology, Limb undergrow... ORPHA:2204
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... ORPHA:93360
Weismann-Netter Syndrome
Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal hip bone mo... ORPHA:3344
Spondylocarpotarsal Synostosis Syndrome
Short neck, Pectus carinatum, Cataract, Block vertebrae, Delayed skeletal maturation, Vertebral s... OMIM:272460
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Odontochondrodysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Macrocephaly, Nephronophthisis, Platyspondyly... OMIM:184260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Barrel-shaped chest, Short neck, Heparan sulfate excretion in urine, Pectus carinatum, Enlarged k... ORPHA:505248
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Abnormality of fibula morphology, Tarsal synostosis... ORPHA:2492
Muenke Syndrome
Carpal synostosis, Macrocephaly, Coronal craniosynostosis, Cone-shaped epiphysis, Short foot, Tar... ORPHA:53271
Distal Limb Deficiencies-Micrognathia Syndrome
Macrocephaly, Abnormal morphology of ulna, Split foot, Abnormality of the ankles, Aplasia/Hypopla... ORPHA:1307
Spondyloenchondrodysplasia With Immune Dysregulation
Irregular vertebral endplates, Metaphyseal irregularity, Sclerosis of skull base, Metaphyseal dys... OMIM:607944
Dyggve-Melchior-Clausen Disease
Broad carpal bones, Short neck, Abnormality of the ankles, Abnormal femoral head morphology, Hypo... ORPHA:239
Leri-Weill Dyschondrosteosis
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... OMIM:127300
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Short foot, Abnormal cortical bone... ORPHA:166277
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... OMIM:607078
Léri-Weill Dyschondrosteosis
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Abnormality of ... ORPHA:240
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Small hand, Hypospadias, Barrel-shaped ches... OMIM:300712
Ulnar Hemimelia
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... ORPHA:93320
Acromesomelic Dysplasia 3
Carpal synostosis, Aplasia of the proximal phalanx of the 2nd finger, Short toe, Talipes equinova... OMIM:609441
Multiple Epiphyseal Dysplasia Type 4
Accelerated skeletal maturation, Short metacarpal, Arthralgia of the hip, Upper limb undergrowth,... ORPHA:93307
Orofaciodigital Syndrome Type 10
Hypoplasia of proximal radius, Short toe, Mesomelic leg shortening, Preaxial polydactyly, Short t... ORPHA:2756
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly ORPHA:46532
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Femoral bowing, Decreased calvarial... OMIM:276820
Radial Hemimelia
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... ORPHA:93321
Isolated Osteopoikilosis
Joint stiffness, Abnormality of femur morphology, Abnormal bone ossification, Sclerosis of foot b... ORPHA:166119
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Hemoglobin H Disease
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin OMIM:613978
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Laurin-Sandrow Syndrome
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... ORPHA:2378
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... OMIM:607685
Axial Spondylometaphyseal Dysplasia
Osteopenia, Platyspondyly, Upper limb undergrowth, Cataract, Flared, irregular rib ends, Thoracic... ORPHA:168549
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... ORPHA:882
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Spondylometaphyseal Dysplasia, Kozlowski Type
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... OMIM:184252
Joint stiffness, Osteoarthritis, Abnormality of tibia morphology, Arthritis, Deviation of finger,... ORPHA:1525
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elbow ankylosis, Craniosynostosis, Femoral bowing, Radioulnar synostosis, Bowing of the long bone... ORPHA:95699
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Abnormal rib cage morphology, Osteopenia, Metaphyseal s... OMIM:608154
Temtamy Preaxial Brachydactyly Syndrome
Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Tarsal synosto... OMIM:605282
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Abnormal bone ossification, Genu varum, Bowing of the long bones, Coarse metaphyseal trabeculariz... ORPHA:1952
Legg-Calvé-Perthes Disease
Avascular necrosis, Joint dislocation, Cartilage destruction, Delayed skeletal maturation, Skelet... ORPHA:2380
Cleft Palate-Stapes Fixation-Oligodontia Syndrome
Abnormality of the wrist, Carpal synostosis, Abnormality of the ankles, Tarsal synostosis ORPHA:2010
Multiple Osteochondromas
Abnormality of femur morphology, Hemothorax, Scapular exostoses, Limitation of knee mobility, Abn... ORPHA:321
Verloove Vanhorick-Brubakk Syndrome
Abnormality of femur morphology, Abnormal form of the vertebral bodies, Limb undergrowth, Abnorma... ORPHA:3429
Multiple Epiphyseal Dysplasia, Beighton Type
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Knee pain, Cataract, Pedal edema,... ORPHA:166011
Langer Mesomelic Dysplasia
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... ORPHA:2632
Microphthalmia With Limb Anomalies
Abnormality of the upper limb, Sandal gap, Horseshoe kidney, Bowing of the long bones, Short long... ORPHA:1106
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... OMIM:603546
Menkes Disease
Pectus excavatum, Abnormal carotid artery morphology, Aplasia/Hypoplasia of the abdominal wall mu... ORPHA:565
Nephronophthisis 19
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... OMIM:616217
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... ORPHA:457395
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... OMIM:251450
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Symphalangism, Distal
Absent dorsal skin creases over affected joints, Craniosynostosis, Distal symphalangism of hands,... OMIM:185700
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Anophthalmia, R... ORPHA:2470
Tarsal-Carpal Coalition Syndrome
Abnormality of the ankles, Tarsal synostosis ORPHA:1412
Scarf Syndrome
Diastasis recti, Short sternum, Inguinal hernia, Micropenis, Coronal craniosynostosis, Barrel-sha... OMIM:312830
Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Multiple renal cysts, Ab... ORPHA:66637
Narrow chest, Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micropeni... OMIM:612651
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl... OMIM:609616
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Hypoplasia of the ulna, Hypoplastic pelvis, A... ORPHA:2616
Juberg-Hayward Syndrome
Abnormality of toe, Microcephaly, Limited elbow extension, Horseshoe kidney, Abnormality of the r... OMIM:216100
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Nail-Patella Syndrome
Talipes calcaneovarus, Abnormality of femur morphology, Proximal finger joint hyperextensibility,... ORPHA:2614
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Distal upper limb muscle weakness, Spinal rigidity, Skeletal musc... OMIM:619566
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mi... OMIM:166740
Kniest Dysplasia
Enlarged joints, Flexion contracture of finger, Macrocephaly, Short neck, Platyspondyly, Abnormal... ORPHA:485
Autosomal Dominant Polycystic Kidney Disease
Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... ORPHA:730
Tibial Hemimelia
Radial club hand, Hemivertebrae, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallu... ORPHA:93322
Maternal Uniparental Disomy Of Chromosome X
Flexion contracture, Hepatic failure, Camptodactyly of finger, Microcephaly, Shield chest, Short ... ORPHA:261519
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... OMIM:602088
Mesomelic Dysplasia, Kantaputra Type
Mesomelia, Carpal synostosis, Radial bowing, Tarsal synostosis OMIM:156232
Multicentric Carpotarsal Osteolysis Syndrome
Corneal opacity, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Wrist pain, Metata... OMIM:166300
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Delayed epiphyseal ossification, Decreased hip abduction, Proximal humeral metaphyseal irregulari... OMIM:183849
Caffey Disease
Increased circulating antibody level, Cortical thickening of long bone diaphyses, Periosteal thic... ORPHA:1310
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Short long bone, Metaphyseal cupping of proximal phalanges, Metaphyseal irregular... ORPHA:174
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Myopathy, Myofibrillar, 3
Hyporeflexia of lower limbs, Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Osteogenesis Imperfecta, Type Xxii
Recurrent fractures, Reduced bone mineral density, Slender long bone, Thin bony cortex, Pseudoart... OMIM:619795
Microphthalmia, Syndromic 9
Atrial septal defect, Multilobulated spleen, Pulmonic stenosis, Single ventricle, Anophthalmia, H... OMIM:601186
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Mesomelia-Synostoses Syndrome
Abnormality of femur morphology, Abnormality of the humerus, Micromelia, Abnormality of the ankle... ORPHA:2496
Renal Dysplasia
Enlarged kidney, Thickened glomerular basement membrane, Abdominal mass, Congenital posterior ure... ORPHA:93108
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular septal defect, Horseshoe k... OMIM:157800
Otopalatodigital Syndrome, Type I
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... OMIM:311300
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Microphthalmia, Anemia, L... ORPHA:858
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ventricular septal d... OMIM:614876
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... OMIM:620010
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum OMIM:618392
Mucopolysaccharidosis Type 1
Macrocephaly, Abnormal epiphysis morphology, Mucopolysacchariduria, Abnormal metaphysis morpholog... ORPHA:579
Angioosteohypotrophic Syndrome
Hypoplasia of the radius, Short humerus, Upper limb undergrowth, Abnormal trabecular bone morphol... ORPHA:75508
Mckusick-Kaufman Syndrome
Urogenital sinus anomaly, Atrial septal defect, Hypoplastic left heart, Glandular hypospadias, Br... ORPHA:2473
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Mucopolysaccharidosis Type 7
Joint stiffness, Corneal opacity, Arteriovenous malformation, Enlarged thorax, Abnormal hip bone ... ORPHA:584
Larsen Syndrome
Pectus excavatum, Talipes equinovalgus, Pectus carinatum, Ventricular septal defect, Elbow disloc... OMIM:150250
Kniest Dysplasia
Enlarged joints, Pectus excavatum, Short neck, Platyspondyly, Hypoplastic pelvis, Rhizomelia, Cat... OMIM:156550
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:600081
Talo-Patello-Scaphoid Osteolysis
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... ORPHA:50809
Schneckenbecken Dysplasia
Macrocephaly, Short neck, Platyspondyly, Ovoid vertebral bodies, Dumbbell-shaped long bone, Thora... OMIM:269250
1Q21.1 Microduplication Syndrome
Macrocephaly, Talipes equinovarus, Hypospadias, Tetralogy of Fallot, Cataract, Arthrogryposis mul... ORPHA:250994
Lethal Kniest-Like Dysplasia
Narrow chest, Wide anterior fontanel, Macrocephaly, Talipes equinovarus, Atrial septal defect, Hy... ORPHA:2347
Costello Syndrome
Macrocephaly, Barrel-shaped chest, Short neck, Pectus carinatum, Ventricular septal defect, Lymph... OMIM:218040
Acropectorovertebral Dysplasia
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... OMIM:102510
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... OMIM:603902
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria OMIM:105200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Short neck, Platyspondyly, Ventricular septal defect,... ORPHA:93267
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Narrow chest, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... ORPHA:85166
Hyperbilirubinemia, Shunt, Primary
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... OMIM:237800
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Enlarged thorax, Pectus excavatum, Limited pronation/supination of forearm, Rhizo-meso-acromelic ... ORPHA:163654
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Hip dysplasia, Aplasia/hypoplasia involving bones of the extremities, Irr... ORPHA:1856
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... OMIM:300696
Progressive Pseudorheumatoid Arthropathy Of Childhood
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... ORPHA:1159
49,Xyyyy Syndrome
Generalized joint laxity, Finger clinodactyly, Short 5th finger, Scoliosis, Radioulnar synostosis... ORPHA:99330
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Lateral humeral condyle aplasia, Camptodactyly of finger, Megalocornea, Synostos... ORPHA:2741
Symphalangism Of Toes
Synostosis involving bones of the toes OMIM:185600
Mucolipidosis Iii Alpha/Beta
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... OMIM:252600
Chondrodysplasia, Blomstrand Type
Advanced ossification of carpal bones, Accelerated skeletal maturation, Short ribs, Flared metaph... OMIM:215045
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Atrioventricular canal defect, Enlarged kidney, Transposition of the great arte... OMIM:314390
Ollier Disease
Joint stiffness, Platyspondyly, Micromelia, Osteolysis, Abnormal cartilage morphology, Multiple e... ORPHA:296
Bone Dysplasia, Lethal Holmgren Type
Narrow chest, Abnormality of femur morphology, Metaphyseal dysplasia, Joint dislocation, Atrial s... ORPHA:1842
Rare Circulatory System Disease
Periostosis, Abnormal hand morphology, Knee pain, Intermittent claudication, Abnormality of finge... ORPHA:98028
Paternal Uniparental Disomy Of Chromosome X
Micropenis, Short neck, Shield chest, Cubitus valgus, Short metacarpal ORPHA:261524
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Spondyloepimetaphyseal Dysplasia, Irapa Type
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... OMIM:271650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Decreased movement range in interphalangeal joints, Rimmed vacuoles, Pelvic girdle muscle weaknes... OMIM:609115
Acromesomelic Dysplasia 2C
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... OMIM:201250
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... OMIM:618395
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Avascular necrosis, Joint stiffness, Osteoarthritis, Platyspondyly, Pulmonary embolism, Arrhythmi... ORPHA:1345
Grant Syndrome
Abnormality of the glenoid fossa, Decreased skull ossification, Bowing of the long bones, Abnorma... ORPHA:2097
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Genu recurvatum, Inguinal hernia, Pes planus, Joint laxity, Cataract, Hip dislocation, Decreased ... OMIM:608763
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mucopolysaccharidosis-Plus Syndrome
Nephrotic syndrome, Atrial septal defect, Nephritis, Hepatomegaly, Splenomegaly, Renal tubular at... OMIM:617303
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Abnormal hand morphology, Ventricular septal defect, Osteolysis, Omphalocele, Pterygi... ORPHA:371428
Desbuquois Dysplasia 2
Pectus excavatum, Cutaneous syndactyly, Monkey wrench femoral neck, Short neck, Platyspondyly, Pe... OMIM:615777
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia, C... OMIM:613313
Trimethylaminuria, Anemia, Neutropenia, Splenomegaly OMIM:602079
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... OMIM:619658
Galactosemia Iii
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice OMIM:230350
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Secundum atrial septal defect, Unilateral renal agenesis, Cystic renal... OMIM:156810
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Delayed proximal femoral epiphyseal ossification, Short neck, 11 pairs of ribs, Platyspondyly, Ve... OMIM:271640
Kaposiform Lymphangiomatosis
Lymphangioma, Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Mul... ORPHA:464329
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Broad phalanx, Anterior polar cataract, Genu valgum, Irregular iliac crest, Short long bone, Meta... OMIM:250420
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Enlarged thorax, Hypoplastic left heart, Congenital diaphragm... ORPHA:251071
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Kyphoscoliosis, Microcephaly, Cataract, Arthrogryposis multiplex congenita, Hip dislocation OMIM:212540
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Atelosteogenesis, Type Ii
Lacunar halos around chondrocytes, Horizontal sacrum, Short neck, Micromelia, Platyspondyly, Sand... OMIM:256050
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Thin bony cortex, Thin metacarpal cortices, C1-C2 subluxation, Delayed closure of the... OMIM:259600
Tarsal Coalition
Tarsal synostosis OMIM:186850
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Enlarged thorax, Adducted thumb, Camptodactyly of finger, Microcepha... ORPHA:2570
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Dwarfism With Stiff Joints And Ocular Abnormalities
Joint stiffness, Delayed ossification of carpal bones, Short phalanx of finger, Short lower limbs... OMIM:127200
Meckel Syndrome, Type 8
Anophthalmia, Hyperechogenic kidneys, Microphthalmia OMIM:613885
Noonan Syndrome 13
Overlapping toe, Enlarged thorax, Atrial septal defect, Blue irides, Bilateral talipes equinovaru... OMIM:619087
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... ORPHA:79301
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Long-chain dicarboxylic aciduria, Hepatomegaly, Hepatic calcif... OMIM:608836
Orofaciodigital Syndrome X
Preaxial hand polydactyly, Coalescence of tarsal bones, Fibular aplasia, Hand oligodactyly OMIM:165590
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Seckel Syndrome 7
Microcephaly, Lumbar scoliosis, Madelung deformity, Clinodactyly, Delayed skeletal maturation, Hi... OMIM:614851
Tyrosinemia, Type I
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Acute hepatic failure, Hepatocellular car... OMIM:276700
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:417
Multiple Synostoses Syndrome 4
Overlapping toe, Brachydactyly, Pes planus, Tarsal synostosis, Broad foot OMIM:617898
Gorham-Stout Disease
Abnormality of femur morphology, Osteomyelitis, Abnormal bone ossification, Abnormality of finger... ORPHA:73
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... ORPHA:100024
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Nail-Patella Syndrome
Pectus excavatum, Microcornea, Hematuria, Glenoid fossa hypoplasia, Hypoplastic radial head, Bice... OMIM:161200
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod... OMIM:601376
Splenoportal Vascular Anomalies
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system OMIM:271500
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Kyphoscoliosis, Microcephaly, Atlantoaxial abnormality, Hypermobility of interphalangeal joints, ... ORPHA:3433
Enthesitis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Abnormality of the ankles, Thickened Achilles tendon, Knee osteoarthritis, Ent... ORPHA:85438
Orofaciodigital Syndrome Type 1
Exocrine pancreatic insufficiency, Cone-shaped epiphysis, Abnormality of the pancreas, Proteinuri... ORPHA:2750
Achondrogenesis Type 2
Narrow chest, Abnormal bone ossification, Lens subluxation, Unossified sacrum, Delayed proximal f... ORPHA:93296
Spondylometaphyseal Dysplasia, Pagnamenta Type
Femoral bowing, Thin bony cortex, Rhizomelia, Broad thumb, Short 4th metacarpal, Short 5th metaca... OMIM:619638
Spondyloocular Syndrome
Atrial septal defect, Osteopenia, Shield chest, Long fingers, Mitral valve prolapse, Pes planus, ... OMIM:605822
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Generalized osteosclerosis, Thickened cortex of long bones OMIM:607634
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Pes c... OMIM:300280
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Joint stiffness, Clinodactyly of the 5th finger, Macrocephaly, Abnormal morphology of ulna, Brach... ORPHA:1275
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Enlarged kidney, Ventricular septal... OMIM:306955
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Recurrent fractures, Hypoplastic left heart, Hypoplasia of penis, Decreased calvarial ossificatio... ORPHA:2772
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Microcephaly, Limb-girdle muscle weak... OMIM:609308
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the hallux, Aplasia/Hypoplasia of the middl... OMIM:609432
Hajdu-Cheney Syndrome
Abnormal cardiac septum morphology, Osteopenia, Foot acroosteolysis, Short neck, Biconcave verteb... OMIM:102500
Glycogen Storage Disease Ib
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Splenomegaly, ... OMIM:232220
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Distal upper limb muscle weakness, Myofiber disarray,... OMIM:301075
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Cervi... ORPHA:93346
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Ca... OMIM:617713
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Calvarial hyperostosis, EMG: myopathic abnormalities, Rimm... ORPHA:52430
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Wide anterior fontanel, Abnormal clavicle morphology, Coronal craniosynostosis, Delayed... ORPHA:85199
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... OMIM:105835
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Short neck, Platyspondyly, Anisospondyly, Cataract, Hemiatrophy of upper limb, Ov... ORPHA:163649
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hepatomegaly, Scoliosis, Osteoporosis, Macrovesicular hepatic steatosis, Hypertrophic c... OMIM:618234
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Pectus excavatum, Osteopenia, Microcornea, Thoracic kyphoscoliosis, Aortic dissection, Hip sublux... ORPHA:1900
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... ORPHA:731
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Solitary Bone Cyst
Lytic defects of the radius, Abnormal humeral diaphysis morphology, Back pain, Abnormality of the... ORPHA:83468
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Increased bone mineral density, Abnormal vertebral segmentation a... ORPHA:90650
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... OMIM:617394
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Short Stature, Brussels Type
Narrow chest, Delayed epiphyseal ossification, Macrocephaly, Calcification of cartilage, Horsesho... ORPHA:2867
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal hip bone morphology, Slender long bone, Abnormal cortical bone morp... ORPHA:1486
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Ck Syndrome
Abnormal digit morphology, Abnormal cortical bone morphology, Joint hypermobility OMIM:300831
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... OMIM:176240
Fibular Hemimelia
Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma... ORPHA:93323
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... OMIM:616278
Schwartz-Jampel Syndrome, Type 1
Quadriceps muscle weakness, Congenital hip dislocation, Micromelia, Microcornea, Pectus carinatum... OMIM:255800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Carpal synostosis, Advanced ossification of carpal bones, Epiphyseal dysplasia, Talipes equinovar... OMIM:615349
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Pectus excavatum, Rhizo-meso-acromelic limb shortening, Short neck, Platyspondyly, Small epiphyse... OMIM:611717
Familial Atrial Myxoma
Bacterial endocarditis, Cholestasis, Pulmonic valve myxoma, Ascites, Jaundice, Cardiomegaly, Card... ORPHA:615
Duchenne And Becker Muscular Dystrophy
Joint stiffness, Reduced bone mineral density, Scoliosis, Slender long bone, Hyperlordosis, Hyper... ORPHA:262
Trisomy 13
Atrial septal defect, Abnormality of the ureter, Anophthalmia, Multiple renal cysts, Ventricular ... ORPHA:3378
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Humeroradial Synostosis With Craniofacial Anomalies
Carpal synostosis, Humeroradial synostosis, Tarsal synostosis OMIM:236410
Noonan Syndrome 7
Pectus excavatum, Atrial septal defect, Macrocephaly, Pulmonic stenosis, Deep palmar crease, Shor... OMIM:613706
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Martsolf Syndrome 2
Overlapping toe, Camptodactyly of finger, Microcephaly, Camptodactyly, Cataract, Developmental ca... OMIM:619420
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Arthrogryposis, Distal, Type 1A
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... OMIM:108120
Mucolipidosis Ii Alpha/Beta
Pectus excavatum, Hepatomegaly, Craniosynostosis, Osteopenia, Megalocornea, Bullet-shaped phalang... OMIM:252500
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis, Hypertrophy of skin of soles, Macrocephaly, Calvarial hype... OMIM:176920
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cataract, Cardiomyopathy OMIM:225740
Mucopolysaccharidosis, Type Vii
Macrocephaly, Hepatomegaly, Anterior beaking of lumbar vertebrae, Short neck, Heparan sulfate exc... OMIM:253220
Cardioacrofacial Dysplasia 2
Narrow chest, Clinodactyly of the 5th finger, Atrioventricular canal defect, Brachydactyly, Left ... OMIM:619143
Avascular necrosis, Kyphosis, Corneal opacity, Macrocephaly, Hepatomegaly, Inguinal hernia, Splen... ORPHA:61
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney, Hepatic fibrosis, Pol... OMIM:200995
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... OMIM:619849
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:619868
Acromesomelic Dysplasia 2B
Short metatarsal, Talipes equinovalgus, Brachydactyly, Short phalanx of finger, Deviation of fing... OMIM:228900
Cantú Syndrome
Macrocephaly, Accelerated skeletal maturation, Short neck, Platyspondyly, Broad ribs, Ovoid verte... ORPHA:1517
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Giant Axonal Neuropathy 2, Autosomal Dominant
Hammertoe, Pes cavus, Cardiomyopathy, Distal amyotrophy OMIM:610100
Osteogenesis Imperfecta, Type Xiv
Recurrent fractures, Osteopenia, Increased susceptibility to fractures, Femoral bowing OMIM:615066
Ivic Syndrome
Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U... OMIM:147750
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Bowing of the legs, Broad phalanx, Metaphyseal dysplasia, Metaphyseal widening, Flared metaphysis... ORPHA:2502
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly OMIM:616719
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly OMIM:269920
Rhizomelic Chondrodysplasia Punctata
Microcephaly, Scoliosis, Spina bifida occulta, Limb undergrowth, Rhizomelia, Abnormal epiphysis m... ORPHA:177
Syndactyly, Type V
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... OMIM:186300
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... OMIM:602347
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Advanced ossification of carpal bones, Joint contracture of the hand, Lens luxation... OMIM:224400
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Cone-shaped epiphyses of the phalanges of the hand, Talipes equinovarus, Small hand, Microcephaly... ORPHA:85172
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... OMIM:214900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:264700
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Multiple joint contractures, Macrocephaly, Broad carpal bones, Short neck, Metaphyseal chondromat... ORPHA:99646
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Short neck, Platyspondyly, Ventricular septal defect, Thoracic hypoplasia, Cardiomega... OMIM:616897
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... ORPHA:98912
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Codas Syndrome
Atrioventricular canal defect, Congenital hip dislocation, Ventricular septal defect, Broad skull... OMIM:600373
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy... OMIM:300106
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Radioulnar synostos... ORPHA:2725
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Childhood-Onset Nemaline Myopathy
Narrow chest, Facial diplegia, Nemaline bodies, Spinal rigidity, Flexion contracture, EMG: myopat... ORPHA:171439
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Widening of cervical spinal canal, Cervical vertebral bodies with decreased ante... OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Flexion contracture, Macroglossia, Microcephaly, Muscular dys... OMIM:613155
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Leopard Syndrome 3
Abnormal mitral valve morphology, Macrocephaly, Short neck, Abnormal aortic valve morphology, Shi... OMIM:613707
Myopathy, Myofibrillar, 6
Spinal rigidity, EMG: myopathic abnormalities, Pes cavus, Muscular dystrophy, Scoliosis, Myofibri... OMIM:612954
Osteogenesis Imperfecta, Type Xviii
Recurrent fractures, Femoral bowing, Thin bony cortex, Joint laxity, Bowing of the long bones, Jo... OMIM:617952
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... OMIM:616860
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... OMIM:619313
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Cone-shaped epiphysis, Abnormality of bone mineral dens... ORPHA:3156
Noonan Syndrome 2
Mitral stenosis, Pectus excavatum, Atrial septal defect, Abnormal sternum morphology, Relative ma... OMIM:605275
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Osteopenia, Broad femoral neck, Thin bony... ORPHA:85184
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia OMIM:615234
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch
Short distal phalanx of finger, Absent trapezoid bone, Cone-shaped epiphyses of the middle phalan... OMIM:606895
Adams-Oliver Syndrome 6
Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibrosis, Portal hypertension,... OMIM:616589
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... ORPHA:1414
Mucopolysaccharidosis, Type Vi
Macrocephaly, Prominent sternum, Hepatomegaly, Pectus carinatum, Genu valgum, Broad ribs, Ovoid v... OMIM:253200
Martsolf Syndrome 1
Pectus excavatum, Finger joint hypermobility, Pectus carinatum, Broad fingertip, Cataract, Cardia... OMIM:212720
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Lower limb pain, Leg muscle stiffness, Distal lower limb muscle weak... ORPHA:320360
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Micropenis, Scimitar anomaly, Accessory spleen, Hep... OMIM:618280
Absence Deformity Of Leg-Cataract Syndrome
Abnormality of femur morphology, Scoliosis, Hyperlordosis, Abnormal epiphysis morphology, Catarac... ORPHA:2310
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Telangiectasia, Portal hypertension OMIM:615506
Melnick-Needles Syndrome
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Short clavicl... ORPHA:2484
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Attrv30M Amyloidosis
Nephropathy, Cardiomyopathy, Cardiomegaly, Abnormal renal physiology ORPHA:85447
Sickle Cell Anemia
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Increased red cell sickling ... OMIM:603903
Glycogen Storage Disease Ia
Nephrolithiasis, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Sclerosis of skull base, Enlarged thorax, Abnormal iliac wing morphology, Unossified sacrum, Shor... ORPHA:3003
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Dilated cardiomyop... OMIM:600649
D-2-Hydroxyglutaric Aciduria 2
D-2-hydroxyglutaric aciduria, Cardiomyopathy OMIM:613657
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hepatomegaly, Accelerated skeletal maturation, Abnormally oss... ORPHA:175
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Epiphyseal dysplasia, Metaphyseal dysplasia, Delayed ossification of carp... OMIM:617425
Hurler Syndrome
Macrocephaly, Hepatomegaly, Calvarial hyperostosis, Short neck, Hypoplasia of the femoral head, H... OMIM:607014
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... OMIM:616828
Microcephaly, Short Stature, And Limb Abnormalities
Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Microcephaly, B... OMIM:617604
Microphthalmia, Lenz Type
Kyphosis, Clinodactyly of the 5th finger, Abnormal clavicle morphology, Hypospadias, Camptodactyl... ORPHA:568
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Abnormal metaphysis morphology, Reduced bone mineral density, Long fibula, Agammaglo... ORPHA:935
Congenital Vertical Talus
Equinus calcaneus, Ankle pain, Abnormality of the foot musculature, Lower extremity joint disloca... ORPHA:178382
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Scoliosis, Organic aciduria, Fatty replacement of skeletal muscle, ... OMIM:255100
Autoimmune Lymphoproliferative Syndrome, Type Iii
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... OMIM:615559
Larsen Syndrome
Laryngotracheomalacia, Short distal phalanx of finger, Large joint dislocations, Vertebral segmen... ORPHA:503
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Nephropathy, Slender long bone, Abnormality of the wrist, Osteolysis, Ca... ORPHA:2774
Spondyloepimetaphyseal Dysplasia, Missouri Type
Metaphyseal irregularity, Tibial bowing, Femoral bowing, Flared metaphysis, Genu varum, Flattened... ORPHA:93356
Codas Syndrome
Coronal cleft vertebrae, Short metacarpal, Hydroureter, Congenital hip dislocation, Brachydactyly... ORPHA:1458
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Wide anterior fontanel, Narrow greater sciatic notch, Postaxial polydactyly, Preaxi... OMIM:617925
Roifman Syndrome
Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Hepato... OMIM:616651
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Neonatal Marfan Syndrome
Talipes calcaneovarus, Tricuspid valve prolapse, Megalocornea, Pectus carinatum, Heart murmur, Ir... ORPHA:284979
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly ORPHA:172
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Carpal synostosis, Chordee, Vesicovaginal fistula, Joint contracture of the hand, Craniosynostosi... OMIM:201750
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... OMIM:603552
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Cardiac-Valvular Ehlers-Danlos Syndrome
Pectus excavatum, Tendon rupture, Recurrent shoulder dislocation, Genu valgum, Sandal gap, Aortic... ORPHA:230851
Weill-Marchesani Syndrome 1
Thin bony cortex, Ventricular septal defect, Broad skull, Cataract, Broad ribs, Ectopia lentis, S... OMIM:277600
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Metaphyseal irregul... OMIM:300009
Classical-Like Ehlers-Danlos Syndrome Type 2
Pectus excavatum, Osteopenia, Hammertoe, Phalangeal dislocation, Sandal gap, Aortic root aneurysm... ORPHA:536532
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Metaphyseal irregularity, Clinodactyly of the 5th finger, Carpal bone aplas... OMIM:610797
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Short neck, ... OMIM:265000
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Hip subluxation, P... OMIM:271665
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Elevated hepatic transaminase, Decreased carnitine leve... OMIM:212140
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... ORPHA:93476
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Metaphyseal irregul... OMIM:277440
Igg4-Related Kidney Disease
Abnormal ureter morphology, Pancreatitis, Urethritis, Lymphadenitis, Ureteral obstruction, Hematu... ORPHA:449395
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Retinopathy, Pigmentary, And Mental Retardation
Arachnodactyly, Microcephaly, Scoliosis, Narrow palm, Cataract, Joint hypermobility OMIM:268050
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Nephrogenic rest, Abnormal liver lobulation, Cystic renal dysplasia, Enlarged kidney, Nephroblast... OMIM:608022
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Decreased liver function, Macroglossia, Osteopenia, Microcephaly, Coarctation of the descending a... ORPHA:79321
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Laryngotracheomalacia, Metaphyseal irregularity, Coxa vara, Lumbar hyperlordosis, Delayed ossific... OMIM:271510
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... ORPHA:1046
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... OMIM:615631
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia... ORPHA:3329
Hemochromatosis, Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, A... OMIM:235200
Weill-Marchesani Syndrome
Limitation of joint mobility, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Bra... ORPHA:3449
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Hypospadias, Anophthalmia, Ventricular septal defect, Microphthalmia ORPHA:77298
Anencephaly 2
Anophthalmia OMIM:619452
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Aplasia/Hypoplasia of the hallux, Finger synd... ORPHA:157801
Ruvalcaba Syndrome
Narrow chest, Kyphosis, Clinodactyly of the 5th finger,