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Gene: Ccn3 MGI:109185

Gene Summary

Name:

cellular communication network factor 3

Synonyms:

C130088N23Rik, CCN3, Nov

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged spleen	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged heart	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
blind uterus	Ccn3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged heart	Ccn3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal vitreous body morphology	Ccn3^em1(IMPC)Mbp	HOM	Late adult	1.62×10^-05
anophthalmia	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
small spleen	Ccn3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Ccn3^em1(IMPC)Mbp	HOM	Early 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.

X-ray

XRay Images Whole Body Dorso Ventral

55 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

21 Images

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X-ray

XRay Images Whole Body Lateral Orientation

4 Images

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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.

Human diseases associated with Ccn3 (0 diseases)
Human diseases predicted to be associated with Ccn3 (1326 diseases)

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	Matching phenotypes	Source
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo...	OMIM:223800
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Barrel-shaped chest,...	OMIM:226980
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene...	ORPHA:750
Ethanolaminosis	Cardiomegaly	OMIM:227150
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Pectus...	OMIM:178110
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Limitation of joint m...	OMIM:313400
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosi...	OMIM:607095
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Pectus exca...	OMIM:619131
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, T...	OMIM:215140
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Increased head circu...	ORPHA:94068
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Smith-Mccort Dysplasia 2	Short neck, Short metatarsal, Pectus carinatum, Short phalanx of finger, Barrel-shaped chest, Sho...	OMIM:615222
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Short metatarsal, Abnormal carpal morphology, Coxa vara, Pectus carin...	ORPHA:93351
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn...	ORPHA:564003
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Dysplasia Epiphysealis Hemimelica	Pes planus, Abnormal femoral neck morphology, Tarsal synostosis, Recurrent fractures, Joint stiff...	ORPHA:1822
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t...	ORPHA:3416
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Short metacarpal, Enlarged joints, Rhizomelia, Kyphoscoliosis, Flexion contr...	ORPHA:263463
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb...	ORPHA:2633
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho...	ORPHA:79106
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co...	ORPHA:53697
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Barrel-shaped chest, Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short...	OMIM:612813
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ...	OMIM:183900
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty...	ORPHA:3152
Frontometaphyseal Dysplasia 1	Carpal synostosis, Skeletal muscle atrophy, Limited elbow movement, Knee flexion contracture, Inc...	OMIM:305620
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ...	OMIM:177170
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Humero-Radial Synostosis	Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Microcephaly, Elbow dislocation, Limitation o...	ORPHA:3265
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Micromelia, Abnormal ...	ORPHA:2635
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Metaphyseal widening, Tibial bowing, Barrel-shaped chest, Iris atrophy, Osteoporosis,...	OMIM:259770
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Keratitis, Abnormal foot morphology, Osteoarthritis, ...	ORPHA:1657
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Joint stiffness, Short neck, Adducted thumb, Uln...	ORPHA:1147
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Barrel-shape...	OMIM:239000
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo...	ORPHA:2790
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Barrel-shaped chest, Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short...	ORPHA:171866
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Multiple Synostoses Syndrome 3	Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Metatarsal...	OMIM:612961
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ...	OMIM:200610
Gne Myopathy	Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula...	ORPHA:602
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, Triphalangeal th...	ORPHA:957
Fucosidosis	Barrel-shaped chest, Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral ...	OMIM:230000
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Decreased finger mobility, Weakness of facial musculature, Limited knee flexion, Intrinsic hand m...	ORPHA:63273
Anauxetic Dysplasia 2	Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho...	OMIM:617396
Temtamy Preaxial Brachydactyly Syndrome	Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short...	ORPHA:363417
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Craniosynostosis, Carpal bone m...	OMIM:600593
Talonavicular Coalition	Coalescence of tarsal bones, Short hallux, Proximal/middle symphalangism of 5th finger, Abnormali...	OMIM:186750
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Flat capi...	OMIM:147891
Winchester Syndrome	Arthropathy, Corneal opacity, Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Bro...	OMIM:277950
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Hereditary Sensory And Autonomic Neuropathy Type 2	Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abnormal epiphysis...	ORPHA:970
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Talipes equinovar...	OMIM:163400
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Microphthalmia, Hyperechogenic k...	OMIM:613885
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ...	OMIM:272460
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Delayed skeletal maturation, Reduced bone mineral dens...	OMIM:617974
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Holt-Oram Syndrome	Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm...	OMIM:142900
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Delayed epiphyseal ossification, Multiple joint dislocation, Gene...	ORPHA:93360
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis...	OMIM:184260
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short neck, Flexion contracture, Pectus carinatum, Thoracic kyphosis, Conjunctivitis, Atrial sept...	ORPHA:505248
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Long thorax, Mesomelia, Abnormal mitral valve morphology, Brachydac...	ORPHA:1277
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Metaphyseal dysplasia, Lumbar hyperlordosis, Kyphoscoliosis, Short iliac bon...	OMIM:607944
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Cataract, Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossi...	OMIM:618392
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal morphology of ulna, T...	ORPHA:1307
Muenke Syndrome	Tarsal synostosis, Macrocephaly, Cone-shaped epiphysis, Short foot, Short palm, Carpal synostosis...	ORPHA:53271
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Microphthalmia With Limb Anomalies	Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-...	ORPHA:1106
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Accelerated skeletal maturation, Abnormal hand morphology, Metaphyseal widenin...	ORPHA:93307
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul...	OMIM:607078
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr...	ORPHA:166277
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Delayed skeletal mat...	OMIM:609441
Craniofacioskeletal Syndrome	Barrel-shaped chest, Pes planus, Atrial septal defect, Absent gallbladder, Ventricular septal def...	OMIM:300712
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Narrow chest, Vesicoureteral reflux, Abnormality of the wris...	ORPHA:95699
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ...	ORPHA:239
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Short ...	ORPHA:2756
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Hemivertebrae, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplasia/Hypoplasi...	OMIM:276820
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo...	ORPHA:1952
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Delayed skeletal maturation, Genu valgum, Slender long bones with narrow diaphyses, A...	OMIM:608154
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Carpal synostosis, Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis	ORPHA:2010
Legg-Calvé-Perthes Disease	Joint dislocation, Skeletal muscle atrophy, Cartilage destruction, Delayed skeletal maturation, A...	ORPHA:2380
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha...	OMIM:184252
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Pyle Disease	Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Limited e...	OMIM:265900
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Abnormal form of the vertebral b...	ORPHA:3429
Diaphanospondylodysostosis	Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax, Multiple renal cysts...	ORPHA:66637
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation of finger...	ORPHA:1525
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Menkes Disease	Venous insufficiency, Intracranial hemorrhage, Narrow chest, Osteoporosis, Joint hyperflexibility...	ORPHA:565
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Symphalangism, Distal	Absent dorsal skin creases over affected joints, Craniosynostosis, Distal foot symphalangism, Dis...	OMIM:185700
Isolated Osteopoikilosis	Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m...	ORPHA:166119
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Scarf Syndrome	Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral...	OMIM:312830
Tarsal-Carpal Coalition Syndrome	Abnormality of the ankle, Tarsal synostosis	ORPHA:1412
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
3M Syndrome	Congenital hip dislocation, Micromelia, Abnormal cerebral vascular morphology, Short neck, Increa...	ORPHA:2616
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Microcephaly, Abnormal toe morphology, Abnormal carpal morpholog...	OMIM:216100
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T...	ORPHA:858
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney, Abnormal sp...	ORPHA:2470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes...	OMIM:608099
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Skeletal muscle atrophy, Increased bone mineral density, Arachnodactyly, Recur...	OMIM:614856
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Pes planus, Hip contracture, Inguinal hernia, Thoracic hypoplasia, Kyphoscoliosis, Accelerated sk...	OMIM:618363
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Maternal Uniparental Disomy Of Chromosome X	Camptodactyly of finger, Rocker bottom foot, Microcephaly, Short neck, Congestive heart failure, ...	ORPHA:261519
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,...	OMIM:619566
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Cornea...	OMIM:166300
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur ...	ORPHA:2614
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si...	OMIM:612651
Myasthenic Syndrome, Congenital, 19	Barrel-shaped chest, Facial palsy, Spinal rigidity, Distal joint laxity, Pectus carinatum, Increa...	OMIM:616720
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fib...	OMIM:609200
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Ventricular septal defect, T...	ORPHA:2473
Chromosome 18P Deletion Syndrome	Barrel-shaped chest, Toe syndactyly, Short neck, Coxa vara, Radial deviation of finger, Clinodact...	OMIM:146390
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Pseudoepiphyses, Atrial septal defect, Vesicoureteral reflux, Pa...	OMIM:157800
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Mesomelia-Synostoses Syndrome	Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of the 5th finger,...	ORPHA:2496
1Q21.1 Microduplication Syndrome	Cataract, Hypospadias, Hip dislocation, Hip dysplasia, Talipes equinovarus, Macrocephaly, Arthrog...	ORPHA:250994
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor...	OMIM:311300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Multiple joint disl...	OMIM:618395
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl...	ORPHA:206549
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Cataract, Ventricular septal defect, Elevated circulating aspartate aminotransferas...	OMIM:614876
Mucopolysaccharidosis Type 7	Anterior beaking of lower thoracic vertebrae, Corneal opacity, Joint stiffness, Metatarsus adduct...	ORPHA:584
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Pectus carinatum, At...	OMIM:218040
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Mucopolysaccharidosis Type 1	Joint dislocation, Abnormal form of the vertebral bodies, Enlarged thorax, Avascular necrosis, Sp...	ORPHA:579
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva...	OMIM:269250
Chondrodysplasia, Blomstrand Type	Micromelia, Accelerated skeletal maturation, Generalized osteosclerosis, Squared iliac bones, Fla...	OMIM:215045
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, O...	ORPHA:50809
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Ventri...	ORPHA:93267
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp...	OMIM:150250
49,Xyyyy Syndrome	Abnormality of the epiphyses of the elbow, Large carpal bones, Lower limb asymmetry, Generalized ...	ORPHA:99330
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Short neck, Pectus excavatum, De...	ORPHA:163654
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo...	OMIM:300696
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Symphalangism Of Toes	Synostosis involving bones of the toes	OMIM:185600
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of t...	ORPHA:1856
Microphthalmia, Syndromic 9	Renal malrotation, Anophthalmia, Truncus arteriosus, Ventricular septal defect, Bilateral microph...	OMIM:601186
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Bone pain, Osteolysis, Multiple encho...	ORPHA:296
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Hyperopic...	OMIM:252600
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobi...	ORPHA:2741
Holt-Oram Syndrome	Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block...	ORPHA:392
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Flexion limi...	OMIM:609115
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Splenomegaly, Optic atrophy, Leukopenia, Hypertrophi...	OMIM:617303
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bo...	ORPHA:371428
Paternal Uniparental Disomy Of Chromosome X	Short metacarpal, Short neck, Shield chest, Cubitus valgus, Micropenis	ORPHA:261524
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Microcephaly, Joint stiffness, Lim...	OMIM:609308
Grant Syndrome	Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2097
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ...	OMIM:615113
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Abnormal heart valve morphology, Cataract, Pulmonary emb...	ORPHA:1345
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Hepatomegaly, Rhizomelia, Talipes, Micromelia, Abnormal...	ORPHA:1842
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Endosteal Hyperostosis, Autosomal Dominant	Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ...	OMIM:144750
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carinatum, Knee disloca...	OMIM:615777
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocat...	OMIM:620269
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, ...	OMIM:259600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:600081
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Bicuspid aortic valve, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion cont...	OMIM:271640
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Synovitis, Short 4th metacarpal, Osteolysis of pate...	OMIM:609655
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
8P23.1 Microdeletion Syndrome	Pes planus, Broad hallux phalanx, Hypospadias, Proximal placement of thumb, Tapered finger, Micro...	ORPHA:251071
Seckel Syndrome 7	Microcephaly, Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dy...	OMIM:614851
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Lumbar hyperlordosis, ...	OMIM:256050
Noonan Syndrome 13	Joint laxity, Pes planus, Prominent metopic ridge, Overlapping toe, Tapered finger, Lower limb as...	OMIM:619087
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kidn...	ORPHA:2750
Microphthalmia With Limb Anomalies	Sacral dimple, Toe syndactyly, Sandal gap, Single transverse palmar crease, Capitate-hamate fusio...	OMIM:206920
Tarsal Coalition	Tarsal synostosis	OMIM:186850
Muscle Filaminopathy	Back pain, Scapular winging, Left ventricular diastolic dysfunction, Fatty replacement of skeleta...	ORPHA:171445
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal...	OMIM:301075
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300554
Gorham-Stout Disease	Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp...	ORPHA:73
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality of the lymphatic system, Hepato...	ORPHA:464329
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Cardiomyopathy, ...	ORPHA:399086
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Short 5th metaca...	OMIM:619638
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of long finger extensor...	ORPHA:399103
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Decreased muscle mass, Cataract, Broad hallux, Kyphoscoliosis, Microcephaly, Hypermobility of int...	ORPHA:3433
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Wide anterior fo...	ORPHA:85199
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Micromelia, Hypop...	ORPHA:93296
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Distal u...	ORPHA:603
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr...	OMIM:613313
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Flexion contracture, Short thorax, Ost...	ORPHA:88630
Trisomy 13	Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Abnormality of the ...	ORPHA:3378
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Flared metaphysis, Hypoplastic pu...	ORPHA:93346
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Oligosacchariduria, Thoracic kyphosis, Narrow chest, Abnormal bone ossification, Abno...	ORPHA:163649
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Ventricular septal defect, Recurrent fractures, Micromelia, Microc...	ORPHA:2772
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Ureteral duplication, Renal insufficiency, Renal dys...	OMIM:608836
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Joint dislocation, Thoracic scoliosis, Decreased muscle mass, Distal joint laxity, Ge...	ORPHA:1900
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ck Syndrome	Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility	OMIM:300831
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Renal cyst, Iris coloboma, Dislocated radial head, Joint laxity, Hypospad...	OMIM:102500
Angel-Shaped Phalangoepiphyseal Dysplasia	Hyperextensibility of the finger joints, Pseudoepiphyses of the metacarpals, Premature osteoarthr...	OMIM:105835
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cataract, Hyperlordosis, Fatty replacement of skeletal muscle, Congestive heart failure, Osteolys...	ORPHA:52430
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Microcephaly, Short neck, Limitation of joi...	ORPHA:2570
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Nail-Patella Syndrome	Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar...	OMIM:161200
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Limited elbow movement, Cardiomegaly, Camptodactyly of toe, Elevated ...	OMIM:300280
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste...	OMIM:607634
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Short Stature, Brussels Type	Delayed epiphyseal ossification, Horseshoe kidney, Narrow chest, Calcification of cartilage, Macr...	ORPHA:2867
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Limitation of joint mobility, Slender long bone, Abnormal hip bone morpholog...	ORPHA:1486
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forearm bowing, Micromeli...	OMIM:600383
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the...	OMIM:255800
Enthesitis-Related Juvenile Idiopathic Arthritis	Back pain, Abnormal metatarsal morphology, Knee osteoarthritis, Enthesitis, Abnormal shoulder mor...	ORPHA:85438
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Hammertoe, Pes cavus, Distal amyotrophy	OMIM:610100
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Noonan Syndrome 7	Short neck, Pectus excavatum, Pectus carinatum, Shield chest, Deep palmar crease, Pulmonic stenos...	OMIM:613706
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Bone pain, Abnormal pubic bone morphology, Unicameral bone ...	ORPHA:83468
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Equinovarus deformity, Micromelia, Short neck, Lens l...	OMIM:224400
Proteus Syndrome	Kyphoscoliosis, Venous malformation, Splenomegaly, Limbal dermoid, Mandibular hyperostosis, Spina...	OMIM:176920
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Accelerated skeletal maturation, Short neck, Flexion contracture, Pectus carinatu...	OMIM:253220
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Alpha-Mannosidosis	Craniofacial hyperostosis, Bowing of the long bones, Hepatomegaly, Corneal opacity, Cataract, Ing...	ORPHA:61
Mucolipidosis Ii Alpha/Beta	Osteopenia, Cardiomegaly, Metaphyseal widening, Megalocornea, Hepatomegaly, Thoracolumbar kyphosc...	OMIM:252500
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Hypopla...	OMIM:615349
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Arthrogryposis, Distal, Type 1A	Congenital hip dislocation, Single transverse palmar crease, Calcaneovalgus deformity, Knee flexi...	OMIM:108120
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum,...	OMIM:619143
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick...	OMIM:241530
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Multiple prenatal fractures, Cardiomegaly, Short neck, Flexion contractu...	OMIM:616897
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid...	ORPHA:2502
Cantú Syndrome	Accelerated skeletal maturation, Cardiomegaly, Short neck, Narrow chest, Broad ribs, Finger synda...	ORPHA:1517
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Rhizomelic Chondrodysplasia Punctata	Cataract, Rhizomelia, Microcephaly, Limitation of joint mobility, Epiphyseal stippling, Abnormal ...	ORPHA:177
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Capitate-hamate fusion, Short toe, Limited elbow extension, R...	OMIM:614078
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H...	OMIM:147750
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites	OMIM:269920
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Femoral bowing, Ge...	OMIM:617952
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub...	ORPHA:99646
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Codas Syndrome	Congenital hip dislocation, Proximal placement of thumb, Broad skull, Generalized joint laxity, A...	OMIM:600373
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Spondyloocular Syndrome	Osteopenia, Pes planus, Long toe, Cataract, Arachnodactyly, Femur fracture, Overlapping toe, Long...	OMIM:605822
Myopathy, Myofibrillar, 6	Scapular winging, Thoracic scoliosis, Lower limb muscle weakness, Facial palsy, Myofibrillar myop...	OMIM:612954
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Leopard Syndrome 3	Short neck, Delayed skeletal maturation, Shield chest, Abnormal aortic valve morphology, Macrocep...	OMIM:613707
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Decreased pate...	ORPHA:98912
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Childhood-Onset Nemaline Myopathy	Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz...	ORPHA:171439
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa...	OMIM:300106
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Lateral clavicle hook, Femoral bowing, Abnorma...	OMIM:274000
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Senior-Loken Syndrome	Cataract, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Co...	ORPHA:3156
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Noonan Syndrome 2	Relative macrocephaly, Atrial septal defect, Abnormal coronary artery origin, Mitral stenosis, Ve...	OMIM:605275
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Cataract, Microcephaly, Hypoplasia of the odontoid process, Sma...	ORPHA:85172
Martsolf Syndrome 1	Thoracic scoliosis, Osteopathia striata, Pectus carinatum, Finger joint hypermobility, Short palm...	OMIM:212720
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dex...	OMIM:618280
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ...	ORPHA:85184
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Microphthalmia, Lenz Type	Finger syndactyly, Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finge...	ORPHA:568
Absence Deformity Of Leg-Cataract Syndrome	Cataract, Hyperlordosis, Abnormality of the lower limb, Abnormal femur morphology, Abnormal epiph...	ORPHA:2310
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Knee flexion contracture, Abnormal calcification of t...	OMIM:271665
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Melnick-Needles Syndrome	Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epi...	ORPHA:2484
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Single transverse palmar crease, Kyph...	OMIM:617425
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Inguinal hernia, Cataract, Rhizomelia, Microcephaly, Flexion contractu...	OMIM:222765
Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:98853
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hurler Syndrome	Short neck, Metaphyseal widening, Flexion contracture, Endocardial fibroelastosis, Hepatomegaly, ...	OMIM:607014
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Wrist swelling, Limitation of joint mobility, Osteolysis, S...	ORPHA:2774
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly...	ORPHA:935
Weill-Marchesani Syndrome	Cataract, Ventricular septal defect, Ectopia lentis, Short thumb, Limitation of joint mobility, M...	ORPHA:3449
Larsen Syndrome	Finger syndactyly, Brachydactyly, Large joint dislocations, Craniosynostosis, Accessory carpal bo...	ORPHA:503
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Postaxial polydactyly, Short neck, Lateral clavicle hook, Complete atrioventr...	OMIM:617925
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Weill-Marchesani Syndrome 1	Broad skull, Broad ribs, Broad metacarpals, Lumbar hyperlordosis, Patent ductus arteriosus, Spina...	OMIM:277600
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Hydroureter, Cataract, E...	ORPHA:1458
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur...	ORPHA:98863
Cartilage-Hair Hypoplasia	Micromelia, Accelerated skeletal maturation, Heart block, Metaphyseal chondrodysplasia, Short nec...	ORPHA:175
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, N...	OMIM:232200
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:264700
Roifman Syndrome	Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl...	OMIM:616651
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Dent Disease 1	Bulging epiphyses, Recurrent fractures, Osteomalacia, Bowing of the legs, Delayed epiphyseal ossi...	OMIM:300009
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, Hypermobi...	ORPHA:230851
Neonatal Marfan Syndrome	Flexion contracture, Pectus carinatum, Talipes calcaneovarus, Enlarged thorax, Megalocornea, Long...	ORPHA:284979
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye...	OMIM:277440
Congenital Vertical Talus	Pes planus, Rocker bottom foot, Equinus calcaneus, Lower extremity joint dislocation, Abnormality...	ORPHA:178382
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:98855
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Epiphyseal Dysplasia, Baumann Type	Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Marked delay in b...	OMIM:610797
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lower limb muscle weakn...	ORPHA:320360
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Inguinal hernia, Patent ductus arteriosus, Delayed skeletal maturation, Methylmalonic aciduria, C...	OMIM:614857
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Organic aciduria, Scoliosis, Supr...	OMIM:255100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Microcephaly, Flexion contracture, Developmental cataract, Abnormal left ventricula...	OMIM:613155
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnor...	ORPHA:1427
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Multiple prenatal fractures, Abnormal thorax morphology, F...	ORPHA:171433
Alg3-Cdg	Osteopenia, Cataract, Microcephaly, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, ...	ORPHA:79321
Congenital Rubella Syndrome	Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Jaund...	ORPHA:290
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi...	ORPHA:564
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Macrovesicular...	OMIM:600649
Congenital Myopathy 24	Scapular winging, Facial palsy, First degree atrioventricular block, Pectus excavatum, Cardiomyop...	OMIM:617336
Weill-Marchesani Syndrome 2	Broad skull, Short metatarsal, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordo...	OMIM:608328
Steel Syndrome	Carpal synostosis, Pes planus, Lumbar hyperlordosis, Limited elbow extension, Hip dislocation, Co...	OMIM:615155
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Microc...	ORPHA:3121
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Microphthalmia	ORPHA:77298
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Joint dislocation, Thoracic scoliosis, Equinus calcaneus, Prominent veins on trunk, K...	ORPHA:536532
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Microcephaly, Centrally nucleated skeletal muscle fibers, Limb-girdle muscl...	ORPHA:86812
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thoracolumbar scoliosis, Microcephaly, Short neck, Flexion contracture, Cardiomyopathy, Myopathy,...	OMIM:616549
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Microcephaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Joint contracture	OMIM:608540
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Joint stiffness, Elbow ...	ORPHA:2557
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Corneal opacity, Splenomegaly, Limitation of joint...	ORPHA:93476
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Ta...	OMIM:265000
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Linear Verrucous Nevus Syndrome	Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Cataract, Reduced bone mineral densit...	ORPHA:2611
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis	OMIM:602390
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Cataract, Genu valgum, Joint hyperflexibility, Irregular vertebral endplate...	ORPHA:250984
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Crossed fused renal ect...	ORPHA:2538
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosi...	OMIM:235200
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Cataract, Camptodactyly of finger, Pectus excavatum, Dil...	ORPHA:272
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Kyphosis, Osteoporosis, M...	OMIM:618234
Myopathy, Myofibrillar, 2	Cataract, Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome ...	OMIM:608810
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Pes planus, Prominent metopic ridge, Multicystic kidney dysplasia, Sandal g...	ORPHA:261349
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Noncompaction cardiomyopathy, Biconvex vert...	ORPHA:353298
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Ca...	ORPHA:79345
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Hypomelanosis Of Ito	Syndactyly, Cataract, Microcephaly, Kyphosis, Hand polydactyly, Radial deviation of finger, Macro...	OMIM:300337
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Vesicoureteral reflux, Renal cortical cysts, ...	OMIM:130650
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Triploidy	Omphalocele, Finger syndactyly, Hypoplasia of penis, Hepatomegaly, Hypospadias, Cataract, Short n...	ORPHA:3376
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Ruijs-Aalfs Syndrome	Pes planus, Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cataract, Down-sloping shoulders, S...	OMIM:616200
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Monosomy 18P	Kyphoscoliosis, Microcephaly, Pectus excavatum, Short neck, Enlarged thorax, Hypertension, Brachy...	ORPHA:1598
Microcephalic Primordial Dwarfism, Dauber Type	Microcephaly, Delayed skeletal maturation, Abnormal carpal morphology, Madelung deformity, Hip dy...	ORPHA:319675
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Cataract, Micromelia, Elbow dislocatio...	ORPHA:3258
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Stickler Syndrome Type 1	Cataract, Osteoarthritis, Mitral valve prolapse, Joint hyperflexibility, Platyspondyly, Abnormal ...	ORPHA:90653
Marinesco-Sjögren Syndrome	Short palm, Skeletal muscle atrophy, Cataract, Coxa valga, Avascular necrosis of the capital femo...	ORPHA:559
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow ch...	OMIM:250220
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Hypospadias, Short metatarsal, Advanced ossification of carpal bones, Spinal ca...	OMIM:614613
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hemivertebrae, Femoral bowing, Micropenis, Arachnodactyly, Hypospadias, Ulnar bowing, Humeroradia...	OMIM:201750
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric aciduria	OMIM:613657
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Optic atrophy, Anemia, Cardiomyopathy, Neutropen...	ORPHA:79312
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Abn...	ORPHA:1225
Osteopathia Striata-Cranial Sclerosis Syndrome	Increased bone mineral density, Cataract, Facial palsy, Hyperlordosis, High iliac wing, Coarctati...	ORPHA:2780
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Delayed skeletal maturation, Hyp...	OMIM:617604
Florid Cemento-Osseous Dysplasia	Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno...	ORPHA:83451
Trisomy 1Q	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Congenital megaureter, Hyd...	ORPHA:261344
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon...	ORPHA:99228
Monosomy X	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon...	ORPHA:99226
Turner Syndrome	Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Reduced bon...	ORPHA:881
Anencephaly 2	Anophthalmia	OMIM:619452
Mitochondrial Complex I Deficiency, Nuclear Type 36	Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Telangiectasia of the skin, Recurrent shoulder dislocation, Down-sloping shoulders, D...	OMIM:212112
Tibial Muscular Dystrophy	Centrally nucleated skeletal muscle fibers, Peroneal muscle atrophy, Quadriceps muscle weakness, ...	ORPHA:609
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Long thorax, Limb und...	OMIM:619142
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Occipital Horn Syndrome	Osteopenia, Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short...	ORPHA:198
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Alkaptonuria	Joint dislocation, Mitral valve calcification, Abnormal heart valve morphology, Coronary artery c...	ORPHA:56
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Cataract, Microcephaly, Limb-girdle muscle weakness, Car...	OMIM:615352
Oculofaciocardiodental Syndrome	Cataract, Ectopia lentis, Short thumb, Patent ductus arteriosus, Broad palm, 2-3 toe syndactyly, ...	ORPHA:2712
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Cherry red spot of the macula, Hyperlordosis, Patent ductu...	ORPHA:354
Distal Symphalangism	Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno...	ORPHA:3248
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Meier-Gorlin Syndrome 1	Genu recurvatum, Lateral clavicle hook, Flexion contracture, Flat glenoid fossa, Hemivertebrae, P...	OMIM:224690
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar...	OMIM:618150
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline ...	OMIM:255160
Stickler Syndrome, Type I	Arthropathy, Cataract, Arachnodactyly, Joint stiffness, Pectus excavatum, Kyphosis, Osteoarthriti...	OMIM:108300
Hypocalcemic Vitamin D-Dependent Rickets	Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys...	ORPHA:289157
Spondylo-Ocular Syndrome	Pes planus, Abnormal intervertebral disk morphology, Ventricular septal defect, Facial hypotonia,...	ORPHA:85194
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Martsolf Syndrome 2	Cataract, Overlapping toe, Camptodactyly of finger, Microcephaly, Developmental cataract, Camptod...	OMIM:619420
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Atrial septal defect, Relative macrocephaly,...	OMIM:115150
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Waardenburg Syndrome Type 3	Atrial septal defect, Camptodactyly of finger, Joint stiffness, Microcephaly, Abnormal finger mor...	ORPHA:896
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pigmentary retinopathy, Pericardial constriction...	OMIM:253250
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Cardiac Lipidosis, Familial	Congestive heart failure, Microcephaly, Cardiomyopathy	OMIM:212080
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Stiff Skin Syndrome	Cataract, Bicuspid aortic valve, Elbow flexion contracture, Limited shoulder movement, Knee flexi...	OMIM:184900
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Cataract, Microcephaly, Abnormal foot morphology, Preaxial pol...	ORPHA:64754
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi...	OMIM:307800
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Pectus excavatum, Thoracic scoliosis, Shield chest, Short neck	OMIM:616994
Joubert Syndrome 21	Anophthalmia, Splenomegaly, Optic atrophy, Megalopapilla, Renal cyst, Hyperechogenic kidneys	OMIM:615636
Turnpenny-Fry Syndrome	Prominent interphalangeal joints, Pectus carinatum, Long thorax, Narrow chest, Atrial septal defe...	OMIM:618371
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly	OMIM:619064
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures	OMIM:304700
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Cataract, Microcephaly	OMIM:616647
Alg1-Cdg	Renal insufficiency, Kyphosis, Limitation of joint mobility, Abnormal heart morphology, Cardiomyo...	ORPHA:79327
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Short neck, Bone cyst, Deep palmar...	ORPHA:1752
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Joint laxity, Pes planus, Aortic regurgitation, Inguinal hernia, Genu recurvatum, Pectus excavatu...	OMIM:225320
Noonan Syndrome	Hepatomegaly, Abnormal pulmonary valve morphology, Pectus excavatum, Abnormality of the spleen, D...	ORPHA:648
Arterial Tortuosity Syndrome	Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Hi...	ORPHA:3342
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Short neck, Kyphosis, Biliary tract abnormality, Membranous subvalvular aortic s...	ORPHA:3191
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior font...	OMIM:620099
Three M Syndrome 3	Microcephaly, Short neck, Increased vertebral height, Hyperlordosis, Short thorax, Slender long b...	OMIM:614205
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Short Stature-Micrognathia Syndrome	Joint laxity, Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Cataract, Accelerat...	OMIM:617164
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing	OMIM:126550
Hemochromatosis, Type 4	Hepatomegaly, Cataract, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis	OMIM:606069
Hurler Syndrome	Abnormal clavicle morphology, Short neck, Endocardial fibroelastosis, Abnormal vertebral morpholo...	ORPHA:93473
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Vesicoureteral reflux,...	OMIM:140000
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Atrial septal defect, Vesicouret...	OMIM:607323
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Microcephaly, Blue irides, Cutaneous finger syndactyly...	OMIM:148820
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia	ORPHA:90322
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:618652
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Microcephaly, Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis ...	ORPHA:2643
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Ventricular septal defect, Hypo...	ORPHA:2438
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur...	ORPHA:3103
H Syndrome	Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, En...	ORPHA:168569
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Pectus carinatum, Abnormal tricus...	ORPHA:192
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Delayed epiphyseal ossification, Flexion contracture, Tap...	OMIM:616007
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Metatarsus adductus, Calcaneovalgus deformity, Talipes equinovarus, Camptodac...	OMIM:620019
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Anophthalmia, Optic atrophy, Retinal dysplasia, Micropht...	ORPHA:899
Microphthalmia, Syndromic 5	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Short neck, Coxa vara, Pectus carinatum, Microcornea, Wrist ...	ORPHA:800
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Qazi-Markouizos Syndrome	Dysharmonic bone age, Torticollis, Tapered finger, Pectus excavatum, Delayed ossification of carp...	ORPHA:3010
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Opti...	ORPHA:90321
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Trisomy 17P	Skeletal muscle atrophy, Prominent metopic ridge, Hypoplasia of penis, Urethral valve, Talipes, C...	ORPHA:261290
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m...	ORPHA:1416
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Short neck, Pectus excavatum, Reduced bone mineral density, Pulmonic s...	OMIM:615279
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Pes planus, Carotid artery dissection, Arachnodactyly, Thoracic aortic a...	OMIM:619656
3-Methylglutaconic Aciduria Type 4	Cataract, Microcephaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Ir...	ORPHA:67048
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos...	ORPHA:289176
Symptomatic Form Of Hfe-Related Hemochromatosis	Arthropathy, Abnormal metacarpophalangeal joint morphology, Decreased muscle mass, Hepatomegaly, ...	ORPHA:465508
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular...	OMIM:201475
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatomegaly	OMIM:609016
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Short neck, Limitation of joint mobility, Patellar apla...	ORPHA:96061
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Arthrogryposis, Distal, Type 2B1	Ulnar deviation of the wrist, Rocker bottom foot, Camptodactyly of finger, Metatarsus adductus, C...	OMIM:601680
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Penoscrotal Transposition	Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Patellar aplasia, Abnormality...	ORPHA:2842
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Single transverse palmar crease, Metatar...	OMIM:214110
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Genu valgum, Tetralog...	ORPHA:1381
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Small hand, ...	ORPHA:2796
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Cataract, Rhizomelia, Proteinuria, Glomerulonephritis, Short iliac...	OMIM:614376
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Generalized joint laxity, Metaphyseal widen...	ORPHA:93357
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi...	OMIM:304120
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Short Chain Acyl-Coa Dehydrogenase Deficiency	Microcephaly, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methylsuccinic ...	ORPHA:26792
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Unilateral r...	OMIM:216360
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Finger syndactyly, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Vertebral segmentatio...	ORPHA:1323
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Dystonia 31	Abnormal posturing	OMIM:619565
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Mucolipidosis Type Ii	Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Tela...	ORPHA:576
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Myop...	OMIM:610717
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Stage 5 ...	ORPHA:79259
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Short neck, Flexion contracture, Hemivertebrae, Abnormal aortic ...	ORPHA:96334
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Tapered finger, Pectus excavatum, Microcephaly, Patent ductus arteriosus, ...	ORPHA:65286
De Barsy Syndrome	Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Talipes ...	ORPHA:2962
3Q29 Microduplication Syndrome	Toe syndactyly, Ventricular septal defect, Sandal gap, Craniosynostosis, Microcephaly, Short neck...	ORPHA:251038
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Kyphoscoliosis, Wide anterior fontanel, Delayed skeletal maturat...	OMIM:608545
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Hyperlordosis, Congestive heart failure, Achilles te...	OMIM:310200
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Asplenia, Patchy reduction of bone miner...	ORPHA:221120
Dent Disease	Enlarged epiphyses, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Nephrocalcino...	ORPHA:1652
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop...	OMIM:620210
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Splenic cyst	OMIM:618188
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Delayed ske...	OMIM:615398
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Talipes, Recurrent fractures, Lower limb asymmetry, Venous insufficiency, Congestive heart failur...	ORPHA:137608
Basal Cell Nevus Syndrome 1	Palmar pits, Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris colo...	OMIM:109400
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Pseudopseudohypoparathyroidism	Short metacarpal, Cataract, Short neck, Osteoporosis, Short metatarsal, Brachydactyly	OMIM:612463
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Pectus carinatum, Vertebral segmentation defect, Abnormal tricus...	ORPHA:1507
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Chondrodysplasia Punctata 1, X-Linked Recessive	Cataract, Microcephaly, Epiphyseal stippling, Abnormality of the vertebral column, Short distal p...	OMIM:302950
Larsen-Like Syndrome, Lethal Type	Joint dislocation, Tracheomalacia, Multiple joint dislocation, Abnormal cartilage matrix, Neonata...	OMIM:245650
Moderate Hemophilia A	Arthropathy, Hip contracture, Epidural hemorrhage, Gastrointestinal hemorrhage, Cartilage destruc...	ORPHA:169805
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Hypoplastic spleen, Patent foramen ovale	ORPHA:89844
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Microcephaly, Hypoplastic ilia, Patellar aplasia, ...	ORPHA:85201
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Optic atrophy, Hypertrophic cardiomyopathy, Ascites	OMIM:614702
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Generali...	OMIM:613848
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Thickened ribs, Abnormal heart valve ...	OMIM:230500
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Accelerated skeletal maturation, Calcan...	OMIM:277590
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod...	ORPHA:3206
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Lipodystrophy, Congenital Generalized, Type 3	Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Aminoaciduria, Ulnar deviation of the hand or of fingers of the ...	OMIM:214100
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Koolen-De Vries Syndrome	Bicuspid aortic valve, Positional foot deformity, Atrial septal defect, Vesicoureteral reflux, Pr...	OMIM:610443
Fibrous Dysplasia Of Bone	Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo...	ORPHA:249
Von Willebrand Disease	Deviation of finger, Venous insufficiency, Abnormal mitral valve morphology	ORPHA:903
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Ureteral duplication, Congenital hip dislocation, Hypoplasia of penis, Conge...	ORPHA:373
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Scoliosis	ORPHA:98896
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Corneal arcus, Joint contracture of the 5th finger, Atrial septal defect, Micropeni...	OMIM:602782
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Joint stiffness, Microcephaly, Kyphosis, Abnormality of the elbow, Hip disloca...	ORPHA:1005
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Kapur-Toriello Syndrome	Cataract, Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Sh...	OMIM:244300
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Abnormal pancreas...	ORPHA:116
Recombinant 8 Syndrome	Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Paten...	ORPHA:96167
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Microcephaly, Developmenta...	OMIM:610756
Ellis-Van Creveld Syndrome	Atrial septal defect, Hypospadias, Capitate-hamate fusion, Postaxial hand polydactyly, Common atr...	OMIM:225500
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cataract, Microcephaly, Patent ductus arte...	ORPHA:250989
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Bone pain, Pectus carinatum, Decreased skull ossification, Iris coloboma,...	ORPHA:955
Cardiospondylocarpofacial Syndrome	Abnormal form of the vertebral bodies, Mitral valve prolapse, Mitral regurgitation, Short palm, S...	ORPHA:3238
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Hypospadias, Proximal placement of thumb, Microcephaly, Short neck, Wide anterior fon...	OMIM:217980
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Cataract, Arachnodactyl...	ORPHA:394
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Accelerated skeletal maturation, Renal cyst, Pectus carinatum, V...	OMIM:312870
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Short neck, Generalized joint laxity, Tibial bowing, Clinodactyly of the 5th finger, ...	ORPHA:251028
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2...	OMIM:612394
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Noonan Syndrome 3	Atrial septal defect, Ventricular septal defect, Sagittal craniosynostosis, Pectus excavatum, Del...	OMIM:609942
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Acro-Renal-Ocular Syndrome	Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Iris colo...	ORPHA:959
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Distal Duplication 6P	Sacral dimple, Cataract, Short neck, Renal hypoplasia, Long thorax, Hydronephrosis	ORPHA:1745
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Harrod Syndrome	Multicystic kidney dysplasia, Cataract, Arachnodactyly, Hypospadias, Microcephaly, Kyphosis, Abno...	ORPHA:2115
Borjeson-Forssman-Lehmann Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Cataract, Tapered finger, Microcephaly, Short toe, ...	ORPHA:127
Three M Syndrome 2	Relative macrocephaly, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Delayed...	OMIM:612921
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Lower limb asymmetry...	ORPHA:90308
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Kyphoscoliosis, Lower li...	ORPHA:35173
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Abnormal thorax morpholo...	OMIM:302960
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinova...	ORPHA:86822
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Camurati-Engelmann Disease	Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Bone pain, Abnor...	ORPHA:1328
Beta-Thalassemia Intermedia	Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Restrictive Dermopathy 1	Ureteral duplication, Limb joint contracture, Rocker bottom foot, Hypospadias, Kyphoscoliosis, An...	OMIM:275210
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Lower limb muscle weakness, Decreased/absent ankle reflexes, Cardiomyopathy, Lower ...	ORPHA:1177
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine...	ORPHA:329478
Refsum Disease, Classic	Cardiomyopathy, Retinal degeneration, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Microcephaly, Short neck, Flared metaphysis, Advanced ossification of carpal bones,...	OMIM:610442
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Distal amyo...	OMIM:232400
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Refsum Disease	Skeletal muscle atrophy, Short metacarpal, Renal insufficiency, Cataract, Heart block, Abnormal f...	ORPHA:773
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Corneal opacity, Bone cyst, Abnormal cartilage morphology, Osteolysis,...	ORPHA:2396
Arboleda-Tham Syndrome	Secundum atrial septal defect, Long thorax, Conjunctivitis, Narrow chest, Atrial septal defect, G...	OMIM:616268
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, Narrow chest, Broad ribs, Joint laxity, Pe...	OMIM:304150
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ...	OMIM:614576
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Decreased circulating total Ig...	OMIM:612301
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology...	ORPHA:2162
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Hepatomegaly, Scapular win...	ORPHA:26791
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Posterior embryotoxon, Ventricular septal defect, Hyp...	ORPHA:912
Floating-Harbor Syndrome	Enlarged joints, Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Atrial septal ...	ORPHA:2044
Marfan Syndrome	Decreased muscle mass, Genu recurvatum, Bicuspid aortic valve, Equinus calcaneus, Flexion contrac...	OMIM:154700
Gm1 Gangliosidosis Type 1	Spatulate ribs, Cherry red spot of the macula, Pectus carinatum, Hypoplastic vertebral bodies, Ca...	ORPHA:79255
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi...	OMIM:139210
Meacham Syndrome	Hypoplasia of penis, Ambiguous genitalia, Ventricular septal defect, Situs inversus totalis, Cryp...	ORPHA:3097
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis, Microcephaly	OMIM:615119
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi...	ORPHA:77259
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Koolen-De Vries Syndrome	Vertebral fusion, Ureteral duplication, Cataract, Arachnodactyly, Bicuspid aortic valve, Hypospad...	ORPHA:96169
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Absent Achilles ...	OMIM:128100
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Areflexia of lower...	ORPHA:329336
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa...	OMIM:614921
Huntington Disease-Like 1	Abnormal shoulder morphology, Abnormal posturing	ORPHA:157941
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Clinodactyly, Abnormal form of the vertebral bodies, Microcornea, C...	ORPHA:2710
Alpha-Mannosidosis, Infantile Form	Osteopenia, Thickened ribs, Short neck, Pectus carinatum, Oligosacchariduria, Cortical thickening...	ORPHA:309282
Myhre Syndrome	Abnormal penis morphology, Craniofacial hyperostosis, Brachydactyly, Cataract, Hypospadias, Ingui...	ORPHA:2588
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic disc coloboma, Vesicoureteral...	OMIM:120200
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cataract, Cerebral hemorrhage, Abnormal hand morphology, Dilated cardiomyopathy, Small hand, Abno...	OMIM:300845
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias...	OMIM:206900
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Diaphragmatic eventration, Spinal muscular atrophy, Multiple prenatal fractures, Secundum atrial ...	OMIM:616866
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Splenomegaly, Sea-blue histiocytosis, Limb undergrowth, Thin bony co...	OMIM:230600
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Limited elbow movement, Short neck, Limited kn...	OMIM:615065
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Cardiomyopathy, Nephrotic syndrome, Le...	OMIM:617713
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Relative macrocephaly, Increased bone mineral density, Cataract, Microcornea, Iris transilluminat...	OMIM:617306
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Ureteral duplication, Cholangitis, Short neck, Short metatarsal, Renal cyst, Hepatic ...	OMIM:266920
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Microcephaly, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Scoliosis	ORPHA:2058
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Cataract, Talipes, Portal hyperten...	ORPHA:974
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Ellis Van Creveld Syndrome	Micromelia, Epispadias, Narrow chest, Atrial septal defect, Atrioventricular canal defect, Synost...	ORPHA:289
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Abnormal scapula morphology, Accelerated skeletal matura...	ORPHA:93317
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Cerebellofaciodental Syndrome	Pes planus, Cataract, Ventricular septal defect, Single transverse palmar crease, Tapered finger,...	OMIM:616202
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Infantile Refsum Disease	Hepatomegaly, Cataract, Facial palsy, Cardiomyopathy, Abnormal epiphysis morphology, Arrhythmia	ORPHA:772
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Spastic Paraplegia 9A, Autosomal Dominant	Cataract, Urinary incontinence, Hiatus hernia, Delayed skeletal maturation, Urinary urgency, Abno...	OMIM:601162
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Cardiomegaly, Abnormal retinal artery morphology, Medial ...	ORPHA:51608
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Anemia	OMIM:618107
Mucopolysaccharidosis Type 2, Severe Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp...	ORPHA:217085
Meier-Gorlin Syndrome 3	Absent sternal ossification, Hypospadias, Aplasia/Hypoplasia of the patella, Microcephaly, Delaye...	OMIM:613803
Baller-Gerold Syndrome	Limited elbow movement, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebral morphology,...	OMIM:218600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Noonan Syndrome 1	Pectus excavatum of inferior sternum, Ventricular septal defect, Hypospadias, Kyphoscoliosis, Sho...	OMIM:163950
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Cataract, Short neck, Short toe, Osteoporosis, Short metatarsal, Subcutaneous o...	OMIM:103580
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Single transverse palmar crease, Epistaxis, Microcephaly, Short neck, Pa...	ORPHA:495818
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st...	OMIM:230800
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca...	OMIM:613795
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Mucopolysaccharidosis Type 2, Attenuated Form	Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp...	ORPHA:217093
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hsd10 Disease, Infantile Type	Cardiomegaly, Optic atrophy, Abnormality of the lower urinary tract, Hypertrophic cardiomyopathy,...	ORPHA:391428
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Arth...	OMIM:232500
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Thrombocytopenia, Splenomegal...	ORPHA:905
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Atrial septal defect, Sing...	ORPHA:185
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M...	ORPHA:254886
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Renal cyst, Atrial septal d...	OMIM:614866
Rothmund-Thomson Syndrome Type 2	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop...	ORPHA:221016
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Congenital Sialidosis Type 2	Abnormal EKG, Hepatomegaly, Cataract, Corneal opacity, Inguinal hernia, Abnormal heart morphology...	ORPHA:93400
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol...	ORPHA:2658
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:613752
Alagille Syndrome 1	Multiple small medullary renal cysts, Hemivertebrae, Microcornea, Vesicoureteral reflux, Atrial s...	OMIM:118450
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Distal Deletion 9P	Enlarged thorax, Hypospadias, Short neck, Brachydactyly	ORPHA:1642
Noonan Syndrome 10	Relative macrocephaly, Atrial septal defect, Ventricular septal defect, Prominent corneal nerve f...	OMIM:616564
Amyloidosis, Finnish Type	Renal insufficiency, Cardiomyopathy, Nephrotic syndrome, Lattice corneal dystrophy, Cardiac amylo...	OMIM:105120
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ...	ORPHA:1272
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, A...	ORPHA:464321
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Atrioventricular block, Abnormal...	ORPHA:581
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Optic atrophy, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glyco...	OMIM:619259
Hemochromatosis, Type 3	Elevated hepatic transaminase, Arthritis, Cirrhosis, Cardiomyopathy	OMIM:604250
Muscular Dystrophy, Cardiac Type	Abnormal EKG, Muscular dystrophy, Carnosinuria, Cardiomyopathy	OMIM:309930
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Calcin...	ORPHA:221008
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Thin ribs, Me...	ORPHA:163966
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange...	ORPHA:710
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/hypoplasia involving bones of the ...	ORPHA:40366
Parkes Weber Syndrome	Abnormal femoral metaphysis morphology, Back pain, Cerebral arteriovenous malformation, Hypertrop...	ORPHA:90307
Townes-Brocks Syndrome 1	Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect, 2-4 finger sy...	OMIM:107480
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Bifid femur, Increased susceptibility to fractures, Aplas...	ORPHA:2769
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cat...	ORPHA:370959
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Micromelia, Microcephaly, Anisospondyly, Short long bone, Tal...	OMIM:224410
Cerebellar-Facial-Dental Syndrome	Inguinal hernia, Cataract, Foot joint contracture, Single transverse palmar crease, Ventricular s...	ORPHA:444072
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Enlarged Parietal Foramina	Craniosynostosis, Short clavicles, Abnormal cerebral vein morphology, Broad thumb, Venous malform...	ORPHA:60015
Müllerian Aplasia And Hyperandrogenism	Shield chest, Cubitus valgus, Short neck, Brachydactyly	ORPHA:247768
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Calcaneovalgus deformity, Position...	ORPHA:363958
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Mitochondrial Trifunctional Protein Deficiency	Tricuspid regurgitation, Lower limb muscle weakness, Equinovarus deformity, Equinus calcaneus, Co...	ORPHA:746
Multiple Sulfatase Deficiency	Broad hallux phalanx, Hepatomegaly, Cataract, Corneal opacity, Microcephaly, Joint stiffness, Spl...	ORPHA:585
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Cataract, Pectus excavatum, Kyphosis, ...	ORPHA:3042
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Optic atrophy, Retinal dys...	ORPHA:2526
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Rothmund-Thomson Syndrome	Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane...	ORPHA:2909
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Hepatomegaly, Peripheral a...	ORPHA:580
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Sacral dimple, Cataract, Postaxial polydactyly, Lower limb asymmetry, Tapered finge...	OMIM:300968
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Proteus-Like Syndrome	Cataract, Genu recurvatum, Lower limb asymmetry, Venous insufficiency, Splenomegaly, Abnormal pup...	ORPHA:2969
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Williams Syndrome	Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Ca...	ORPHA:904
Vertical Talus, Congenital	Arthritis, Calcaneovalgus deformity, Rocker bottom foot, Equinus calcaneus	OMIM:192950
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Abnormality of retinal pigmentation, Anophthalmia, Hypospadias, Epispa...	ORPHA:2556
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy	ORPHA:254857
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Carey-Fineman-Ziter Syndrome 1	Skeletal muscle atrophy, Cataract, Facial palsy, Hypoplasia of the musculature, Tapered finger, M...	OMIM:254940
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy	OMIM:252900
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp...	ORPHA:158061
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio...	ORPHA:508
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Acheiropody	Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab...	OMIM:200500
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Microcephaly, Elbow dislocation, Delayed skeletal maturation, Patellar a...	OMIM:613805
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:231736
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Vici Syndrome	Cataract, Microcephaly, Congestive heart failure, Dilated cardiomyopathy, Ocular albinism, Develo...	OMIM:242840
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ...	OMIM:258450
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Catara...	ORPHA:90349
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:268800
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Donnai-Barrow Syndrome	Omphalocele, Cataract, Ventricular septal defect, Proteinuria, Congenital diaphragmatic hernia, W...	OMIM:222448
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Monosomy 9Q22.3	Cataract, Rhabdomyosarcoma, Accelerated skeletal maturation, Palmar pits, Pectus excavatum, Short...	ORPHA:77301
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Remnants ...	OMIM:300166
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Cataract, Limited mobility of proximal interphalangeal joint, St...	OMIM:222300
Fraser Syndrome 1	Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Bilateral microphthalmos, Renal hypoplasia, ...	OMIM:219000
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Myofibrillar myopathy, Cardiomyopathy, Hyporeflexia of lower limbs, EMG: myo...	OMIM:609452
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Pes planus, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, P...	OMIM:601552
Chops Syndrome	Cataract, Ventricular septal defect, Microcephaly, Splenomegaly, Patent ductus arteriosus, Vesico...	OMIM:616368
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Propionic Acidemia	Hepatomegaly, Increased level of hippuric acid in urine, Cerebellar hemorrhage, Osteoporosis, Hyp...	OMIM:606054
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Fanconi Anemia	Abnormal femur morphology, Reduced bone mineral density, Abnormality of the liver, Triphalangeal ...	ORPHA:84
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Abnormal femur morphology, A...	ORPHA:324
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated c...	OMIM:615895
Relapsing Polychondritis	Abnormal endocardium morphology, Pericarditis, Renal insufficiency, Proteinuria, Chondritis of pi...	ORPHA:728
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia	ORPHA:3412
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Cataract, Pulmonary lymphangiectasia, Mitral valve prolapse, Increased carry...	OMIM:247410
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Microcornea, Long hallux, Iris coloboma, Broad...	ORPHA:2308
Mirage Syndrome	Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Thrombocytopenia, Leukopenia, Microp...	OMIM:617053
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Sandal gap, Macrodactyly, Lower limb asymmetry, Splenomegaly, Cranial hyperostosis, Renal hypopla...	OMIM:612918
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Optic...	ORPHA:141099
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomyopathy, Neonatal death, Pulmonary...	OMIM:619003
Charge Syndrome	Overriding aorta, Ventricular septal defect, Anophthalmia, Renal agenesis, Secundum atrial septal...	OMIM:214800
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Single transverse palmar crease, Flexion contractur...	OMIM:180849
Meier-Gorlin Syndrome 4	Genu recurvatum, Microcephaly, Lateral clavicle hook, Delayed skeletal maturation, Patellar aplas...	OMIM:613804
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the...	OMIM:158330
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Meier-Gorlin Syndrome 2	Microcephaly, Delayed skeletal maturation, Patellar aplasia, Slender long bone, Camptodactyly, Tr...	OMIM:613800
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Mitral valve prolapse, Abnormal heart morphology, Enuresis no...	OMIM:615873
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Increased susceptibility to fractures	ORPHA:216866
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Proximal Myopathy With Extrapyramidal Signs	Centrally nucleated skeletal muscle fibers, Microcephaly, Cardiomyopathy, Increased variability i...	ORPHA:401768
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Renal hypoplasia	ORPHA:264200
Leopard Syndrome 1	Bundle branch block, Scapular winging, Hypospadias, Limited elbow movement, Missing ribs, Pectus ...	OMIM:151100
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Pes planus, Prominent superficial veins, Cataract, Inguinal hernia, Developmental gla...	OMIM:614438
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract, Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Scoliosis...	OMIM:201470
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Tapered finger, Short toe, Abnormal heart morphology, Delayed ossification of carpal bones, Short...	OMIM:239300
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Flexion contracture, Microcornea, Lentiglobus, Hepatomegaly, Renal hypop...	ORPHA:90324
Frank-Ter Haar Syndrome	Osteopenia, Short palm, Bowing of the long bones, Metatarsus adductus, Wide anterior fontanel, Os...	OMIM:249420
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, E...	ORPHA:2554
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hyperextensibility of the finger joints, Hepatomegaly, Cataract, Splenomega...	OMIM:135500
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of liver, Avascular ne...	ORPHA:247691
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Atrial ...	OMIM:249270
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Sc...	ORPHA:818
Gracile Bone Dysplasia	Asplenia, Micropenis, Hypoplastic spleen	OMIM:602361
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun...	ORPHA:2394
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology	OMIM:614886
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Cataract, Accelerated skeletal maturation, Coxa valga, Long fingers, Pa...	OMIM:617561
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Charge Syndrome	Anophthalmia, Optic atrophy, Horseshoe kidney, Abnormal cardiac septum morphology, Abnormal aorti...	ORPHA:138
Silver-Russell Syndrome	Relative macrocephaly, Decreased muscle mass, Sandal gap, Hypospadias, Lower limb asymmetry, Dela...	ORPHA:813
Mogs-Cdg	Hepatomegaly, Atrial septal defect, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Left ventric...	ORPHA:79330
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Epiphyseal dysplasia, Calcinosis, Congenital hip dislocation, Cataract, Microcephaly,...	OMIM:617913
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Pericarditis, Elevated hepatic transaminase, Proteinuria, Microcephaly,...	OMIM:212065
Lathosterolosis	Elevated hepatic transaminase, Toe syndactyly, Foam cells with lamellar inclusion bodies, Bilobat...	OMIM:607330
Luscan-Lumish Syndrome	Long foot, Advanced ossification of carpal bones, Macrocephaly	OMIM:616831
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Pierson Syndrome	Diffuse mesangial sclerosis, Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, ...	OMIM:609049
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement...	OMIM:261540
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Osteoarthritis, Bone pain, Abnormal form of the verte...	ORPHA:828
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Hepatic failure, ...	OMIM:608013
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Trichothiodystrophy	Osteopenia, Joint dislocation, Increased bone mineral density, Multiple joint contractures, Ventr...	ORPHA:33364
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Propionic Acidemia	Cardiomyopathy, Arrhythmia, Organic aciduria, Hepatomegaly	ORPHA:35
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Cataract, Missing ribs, Abnormal rib...	ORPHA:3301
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Macular atrophy, Microvesicular hepati...	OMIM:619418
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Microcephaly, Patent ductus arteriosus, Hypoplasia of the radius, Ec...	OMIM:617247
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Lethal Acantholytic Erosive Disorder	Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Impaired myocardial contractility, Hy...	ORPHA:158687
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Hypoplasia of penis,...	ORPHA:46059
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Elevated hepatic transaminase, Cataract, Craniosynostosis, Ta...	OMIM:620005
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Prominent superficial veins, Cor triatriatum, Inguinal hernia, Single transverse pa...	OMIM:612541
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Proteinuria, Accelerated skeleta...	ORPHA:79086
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Cataract, Microcephaly, 4-5 finger syndactyly, Hip disl...	OMIM:164200
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal tibia morphology, Atrial septal defect, Patent foramen ovale, Hyperlordosis, Bone cyst, ...	ORPHA:363700
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Cutis Laxa, Autosomal Recessive, Type Iid	Inguinal hernia, Cataract, Hypoplastic right heart, Kyphoscoliosis, Congestive heart failure, Hip...	OMIM:617403
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Hypoplasia of penis, Anophthalmia	ORPHA:2250
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Myoglobinuria, Rhabdomyolys...	ORPHA:228305
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Cataract, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, Bradycardia, Arrhythmia...	OMIM:609286
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card...	OMIM:212138
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Atrial septal defect, Joint laxity, Thoracolumbar scolios...	ORPHA:480880
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Recurrent fractures, Long fingers, Osteoporosis, Talipes...	OMIM:309583
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ...	ORPHA:231214
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Single transverse palmar crease, Short neck, Clinodactyly of the 5th finge...	OMIM:612474
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:308552
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Osteogenesis Imperfecta	Osteopenia, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia morphology, Abnormal ...	ORPHA:666
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Familial Multiple Nevi Flammei	Lower limb asymmetry, Venous insufficiency, Abnormality of the lower limb, Pulmonary embolism, In...	ORPHA:624
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Cataract, Microcephaly, Dilatation of the ventricular ca...	ORPHA:363623
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Myopathy, Stillb...	OMIM:614922
Vici Syndrome	Cataract, Joint stiffness, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy	ORPHA:1493
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Toriello-Carey Syndrome	Microcephaly, Short neck, Wide anterior fontanel, Patent ductus arteriosus, Coarctation of aorta,...	ORPHA:3338
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Venous insufficiency, Osteoarthritis, Abnormality of the wrist, Keratoconus, A...	ORPHA:285
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Talipes calcaneovalgus, Re...	OMIM:270400
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Cataract, Flexion contracture, Limitation of joint mobility,...	ORPHA:90153
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia	ORPHA:3222
Transketolase Deficiency	Increased level of ribose in urine, Hepatomegaly, Cataract, Ventricular septal defect, Abnormal c...	ORPHA:488618
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
22Q11.2 Deletion Syndrome	Short neck, Abnormal aortic arch morphology, Atrial septal defect, Vesicoureteral reflux, Arachno...	ORPHA:567
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Palmoplantar keratoderma, Paroxys...	ORPHA:34217
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Renal cyst, Microphthalmia,...	ORPHA:137675
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Craniotubular Dysplasia, Ikegawa Type	Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull...	OMIM:619727
Tukel Syndrome	Syndactyly, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone aplasia, P...	OMIM:609428
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, Knee flexion contracture, Atrial septal defect, Phocomelia, Wrist fl...	OMIM:268300
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Cataract, Pericardial effusion, Cardiomyopathy, Elevated urine acetoacet...	OMIM:620089
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate neph...	ORPHA:416
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Holoprosencephaly 9	Microphthalmia, Micropenis, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Splenomegaly, Increased muscle lipid content, Abnormality of the c...	ORPHA:565612
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Pearson Syndrome	Renal cyst, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytos...	ORPHA:699
Proteus Syndrome	Decreased muscle mass, Central heterochromia, Pulmonary embolism, Abnormal finger morphology, Ren...	ORPHA:744
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
X-Linked Intellectual Disability, Armfield Type	Inguinal hernia, Cataract, Patent ductus arteriosus, Abnormality of the elbow, Small hand, Short ...	ORPHA:85276
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Elevated...	OMIM:277900
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Cataract, Renal cyst, Nephrocalcinosis, Cardi...	ORPHA:445038
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Secondary microcephaly, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Cyclic Vomiting Syndrome	Cardiomyopathy, Microcephaly	OMIM:500007
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice...	OMIM:615512
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Atrial septal defect, Clinodactyly of t...	ORPHA:857
Trichohepatoenteric Syndrome 1	Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Abnormality...	OMIM:222470
Chondrodysplasia Punctata, Autosomal Dominant	Hip contracture, Cataract, Knee flexion contracture, Epiphyseal stippling, Talipes equinovarus, S...	OMIM:118650
Sandifer Syndrome	Torticollis, Hiatus hernia, Hematemesis, Abnormal posturing, Decreased cervical spine mobility	ORPHA:71272
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Vesicoureteral reflux, Atrial ...	ORPHA:353281
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Cataract, Talipes, Short neck, Patent ductus arteriosus, Hypercalciuria,...	OMIM:300990
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Ventricular septal def...	OMIM:606170
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Cardiomy...	ORPHA:258
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Absent Achilles reflex, Cardiomyopathy, Myopathy, Pes cavus	ORPHA:1215
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepa...	OMIM:260920
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Glutaric aciduria, Cardiomyopathy, D-2-hydroxyglutaric aciduria, Macrocephaly	OMIM:600721
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, Anemia	OMIM:239200
Neu-Laxova Syndrome 1	Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Pterygium, Patent foramen ovale...	OMIM:256520
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Renpenning Syndrome 1	Atrial septal defect, Cataract, Ventricular septal defect, Hypospadias, Microcephaly, Pectus exca...	OMIM:309500
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Sporadic Infantile Bilateral Striatal Necrosis	Hypomimic face, Abnormal posturing, Urinary incontinence, Titubation	ORPHA:225147
Sotos Syndrome	Ureteral duplication, Accelerated skeletal maturation, Flexion contracture, Pedal edema, Increase...	ORPHA:821
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Single transverse palmar crease, Congenital diaphrag...	OMIM:309801
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Microcephaly, Rhabdomyolysis,...	ORPHA:159
Clapo Syndrome	Hemihypertrophy of lower limb, Macrodactyly, Pectus excavatum, Hemihypertrophy of upper limb, Var...	ORPHA:168984
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Anemia, Pulmonic stenosi...	OMIM:620185
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Cardiomyopathy, Myopathy, Sh...	ORPHA:98907
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy, Cataract, Pes cavus	OMIM:614879
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, U...	ORPHA:2052
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Optic atrophy, Horseshoe kidney, Aniridia, Microphthalmia, Bi...	OMIM:305600
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Urinary incontinence, Cardiomegaly	OMIM:105210
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chroni...	OMIM:249100
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Atrial septal defect, Clinodactyly of the 5th finger, Pate...	OMIM:607872
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Sh...	ORPHA:199
Unilateral Polymicrogyria	Epistaxis, Pulmonary arteriovenous malformation, Microcephaly, Abnormal heart morphology, Stroke,...	ORPHA:268943
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly	OMIM:208000
Legius Syndrome	Cataract, Paroxysmal atrial tachycardia, Nephrolithiasis, Mitral valve prolapse, Diaphyseal dyspl...	ORPHA:137605
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Cataract, Micromelia, Urethrovaginal fistula, Preaxial hand pol...	ORPHA:93271
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, ...	OMIM:617591
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Microcephaly, Splenomegaly, Vasculitis, Cardiomyopat...	OMIM:225750
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Generalized amyotrophy, Skeletal muscle atrophy, Limb hypertonia	OMIM:617710
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia	ORPHA:2237
Gjc2-Related Late-Onset Primary Lymphedema	Ankle swelling, Venous insufficiency, Pedal edema, Abnormal lymphatic vessel morphology, Varicose...	ORPHA:568051
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Synovitis, Tendonitis, Arthrit...	OMIM:186580
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Cystic angiomatosis of bone, Hepatomegaly, Acute pancreatitis, Acc...	OMIM:608594
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Pes planus, Microcephaly, Cardiomyopathy, Abnormality of the liver...	ORPHA:88618
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Clubbing, T...	OMIM:175050
Hec Syndrome	Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Endocardial fibroelastosis, Ar...	ORPHA:2119
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation...	ORPHA:14
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Renal cyst, Duplication of internal organs, Retinal co...	OMIM:113620
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Pes planus, Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle w...	ORPHA:521411
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Finger joint hypermobility, Hypermobility of inte...	OMIM:130050
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus	ORPHA:3320
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Enthes...	ORPHA:29207
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nep...	ORPHA:342
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Myoglobinuria, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Ren...	ORPHA:157
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Renal insufficiency, Pancreatitis, Hepatomegaly	ORPHA:27
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Foix-Alajouanine Syndrome	Distal lower limb amyotrophy, Back pain, Neurogenic bladder, Low back pain, Urinary incontinence,...	ORPHA:79093
Bohring-Opitz Syndrome	Retinal atrophy, Nephroblastoma, Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology,...	ORPHA:97297
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen...	ORPHA:83628
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve p...	OMIM:245600
Peters Plus Syndrome	Ureteral duplication, Micromelia, Short neck, Bicuspid pulmonary valve, Microcornea, Abnormal pul...	ORPHA:709
Agel Amyloidosis	Cataract, Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Cardiomyopathy, Keratoconjun...	ORPHA:85448
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Phace Syndrome	Cataract, Cerebral arteriovenous malformation, Microcephaly, Sclerocornea, Lens coloboma, Coarcta...	ORPHA:42775
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst...	ORPHA:90793
Meier-Gorlin Syndrome 6	Sandal gap, Microcephaly, Delayed skeletal maturation, Patellar aplasia, Hip dysplasia, Short mid...	OMIM:616835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp...	OMIM:614643
Livedoid Vasculopathy	Enlargement of the ankles, Abnormal capillary morphology, Telangiectasia of the skin, Venous insu...	ORPHA:542643
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic aciduria, Card...	OMIM:251000
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Kearns-Sayre Syndrome	Microcephaly, Ragged-red muscle fibers, Cardiomyopathy, Renal tubular acidosis, Renal Fanconi syn...	OMIM:530000
Neurocardiofaciodigital Syndrome	Syndactyly, Cataract, Sclerocornea, Microcephaly, Patent ductus arteriosus, Vesicoureteral reflux...	OMIM:619869
Autosomal Dominant Optic Atrophy And Cataract	Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Anterior cortical cataract,...	ORPHA:67036
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hand muscle weakness, Fatty replacement of skeletal ...	ORPHA:98908
Neuroocular Syndrome	Hyperextensibility of the finger joints, Genu recurvatum, Lens coloboma, Microcornea, Clinodactyl...	OMIM:619539
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Milroy Disease	Varicose veins, Abnormal venous morphology, Ankle swelling, Pedal edema	ORPHA:79452
Von Hippel-Lindau Disease	Back pain, Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell ...	ORPHA:892
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Blau Syndrome	Pericarditis, Cataract, Camptodactyly of finger, Facial palsy, Keratitis, Splenomegaly, Nephropat...	ORPHA:90340
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated...	ORPHA:550
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Renal tubular acidosis, Cardiomyopathy, Chronic kidney disease, 3-Methylglutaconic aciduria	ORPHA:324525
Kaposi Sarcoma	Venous insufficiency, Abnormality of the lower limb, Abnormality of the spleen, Abnormality of th...	ORPHA:33276
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bicuspid aortic valve, Urinary incontinence, Asplenia, Abnormal pupil morphology, Flexion contrac...	ORPHA:261552
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deform...	ORPHA:261537
Friedreich Ataxia	Hand muscle atrophy, Abnormal foot morphology, Cardiomyopathy, Areflexia of lower limbs, Scoliosi...	ORPHA:95
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:168558
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Cardiomyopathy, Jaundice, Acute hepatic failure	OMIM:616483
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr...	ORPHA:289548
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus, Single ventricle	OMIM:619879
Familial Cutaneous Collagenoma	Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy	ORPHA:53296
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute...	ORPHA:29073
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:743
Vascular Ehlers-Danlos Syndrome	Joint dislocation, Congenital hip dislocation, Osteoarthritis, Abnormal pupil morphology, Interna...	ORPHA:286
Polyarteritis Nodosa	Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension	ORPHA:767
Rabson-Mendenhall Syndrome	Ventricular septal defect, Delayed skeletal maturation, Long penis, Nephrocalcinosis, Cardiomyopa...	ORPHA:769
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina	OMIM:146255
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Remnants of the hyaloid vascular system, Retinal nonattachment	OMIM:221900
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Ectopic ki...	OMIM:164210
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Optic di...	OMIM:309800
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Postinfectious Vasculitis	Cerebral vasculitis, Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glom...	ORPHA:48435
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni...	OMIM:601803
Aspartylglucosaminuria	Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Abnormal cortical bone mor...	ORPHA:93
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Congenital Enterovirus Infection	Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hypotension, Hepatic f...	ORPHA:292
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Thin bony ...	OMIM:613658
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Hepatosplenome...	ORPHA:51
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia, Renal hypoplasia	OMIM:607932
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Cataract, Band keratopathy, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting r...	ORPHA:47159
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Wolfram Syndrome	Gastrointestinal hemorrhage, Dysuria, Joint stiffness, Abnormal mesentery morphology, Cardiomyopa...	ORPHA:3463
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Elevated circulating alanine aminotransferase concentration, Oligosac...	ORPHA:365
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Cardiomyopathy, Decreased liver function	OMIM:618839
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Macrodactyly, Venous malformation	OMIM:613089
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Glomuvenous Malformation	Abnormality of the lower limb, Gastrointestinal arteriovenous malformation, Abnormality of the up...	ORPHA:83454
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Lymph...	OMIM:256040
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Cataract, Epistaxis, Ocular albinism, Cardiomyo...	ORPHA:79430
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Epistaxis, Ocular albinism, Hematochezia, Cardiomyopathy	OMIM:203300
Okamoto Syndrome	Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum...	ORPHA:2729
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Neoplasm of the pancreas, Transien...	ORPHA:2929
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert...	ORPHA:90794
Exstrophy-Epispadias Complex	Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab...	ORPHA:322
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Fanconi Anemia, Complementation Group L	Anemia, Micropenis, Bone marrow hypocellularity, Aplasia of the uterus	OMIM:614083
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Wolf-Hirschhorn Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Bil...	OMIM:194190
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Microcephaly, Venous ins...	ORPHA:649
Holoprosencephaly 2	Microphthalmia, Remnants of the hyaloid vascular system, Single ventricle	OMIM:157170
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Coffin-Siris Syndrome 1	Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe...	OMIM:135900
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Heart Block, Congenital	Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros...	OMIM:234700
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Familial Cerebral Cavernous Malformation	Venous malformation, Scoliosis, Cerebral hemorrhage	ORPHA:221061
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Ccn3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ccn3.

No publications found that use IMPC mice or data for Ccn3.

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MGI Allele	Allele Type	Produced
Ccn3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Ccn3^{tm51069(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Ccn3 MGI:109185

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Ccn3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data