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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 kidney	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	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
enlarged heart	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
anophthalmia	Ccn3^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Ccn3^em1(IMPC)Mbp	HOM	Early adult	0.00
small spleen	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 Lateral Orientation

21 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

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 (1340 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	Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse...	ORPHA:93284
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, Tu...	OMIM:619902
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Dyggve-Melchior-Clausen Disease	Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape...	OMIM:223800
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the toes, Cone-shaped epiphyses of the phalanges of the hand, Hyperlordosis, M...	OMIM:226980
Pseudoachondroplasia	Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of...	ORPHA:750
Ethanolaminosis	Cardiomegaly	OMIM:227150
Smith-Mccort Dysplasia 1	Short metacarpal, Kyphosis, Microcephaly, Iliac crest serration, Metaphyseal irregularity, Genu v...	OMIM:607326
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Spondylolisthesis, Pectus carinatum, Microcephaly, Craniosynostosis, Cervical spinal canal stenos...	OMIM:178110
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Irregular epiphyses, Hip osteoarthritis, Barrel-shaped chest, Hypoplastic iliac wing, Scoliosis, ...	OMIM:313400
Anauxetic Dysplasia 1	Delayed ossification of carpal bones, Aortic valve stenosis, Joint hypermobility, Cervical sublux...	OMIM:607095
Greenberg Dysplasia	Short long bone, Short ribs, Decreased skull ossification, Short metacarpal, Multiple prenatal fr...	OMIM:215140
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bell-shaped thorax, Barrel-shaped chest, Wormian bones, Scoliosis, Pectus excavatu...	OMIM:619131
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet...	ORPHA:94068
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste...	ORPHA:1879
Mesomelic Dysplasia, Kantaputra Type	Abnormal fibula morphology, Tarsal synostosis, Clinodactyly of the 5th finger, Cubitus valgus, Ta...	ORPHA:1836
Smith-Mccort Dysplasia 2	Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin...	OMIM:615222
Acromesomelic Dysplasia, Hunter-Thompson Type	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc...	ORPHA:968
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Bilateral single transverse palmar creases, Kyphoscoliosis, Multiple carpal ossification centers,...	OMIM:143095
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Abnormal c...	ORPHA:93351
Osteochondrosis Of The Metatarsal Bone	Flattened metatarsal heads, Abnormality of the third metatarsal bone, Arthritis, Abnormality of t...	ORPHA:564003
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:271700
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Abnormal femur morphology, Genu valgum, Irregular epiphyses, Bone pain, Joint ...	ORPHA:1822
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology, Diaphyseal u...	ORPHA:3416
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Genu valgum, Rhizomelia, Irregular epiphyses, Small epiphyses, Cubitus valgus, Ba...	ORPHA:263463
Mesomelic Dysplasia, Nievergelt Type	Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm...	ORPHA:2633
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Hypoplasia of the radius, Tarsal synostosis, Fibular hypopl...	OMIM:112910
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short finger, Rhizomelia, Irregular epiphyses, Barrel-shaped chest, Platyspondyly, Relative macro...	OMIM:612813
Eiken Syndrome	Metaphyseal irregularity, Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossi...	ORPHA:79106
Gnathodiaphyseal Dysplasia	Osteopenia, Bowing of the long bones, Thickened cortex of long bones, Mandibular osteomyelitis, R...	ORPHA:53697
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Delayed pubic bone ossification, Limitation of knee mobility, Delayed cal...	OMIM:183900
Proximal Symphalangism	Tarsal synostosis, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormality of...	ORPHA:3250
Osteogenesis Imperfecta, Type Viii	Femoral bowing, Tibial bowing, Decreased skull ossification, Short metacarpal, Kyphosis, Multiple...	OMIM:610915
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Barrel-shaped chest, Arthritis, Knee pain, Pectus carinatum, Hypoplasia of the od...	OMIM:184100
Fibular Aplasia-Complex Brachydactyly Syndrome	Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma...	ORPHA:2639
Tarsal-Carpal Coalition Syndrome	Short finger, Tarsal synostosis, Radial deviation of finger, Distal symphalangism of hands, Cubit...	OMIM:186570
Frontometaphyseal Dysplasia 1	Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co...	OMIM:305620
Sclerosteosis	Diaphyseal undertubulation, Abnormal cortical bone morphology, Craniofacial hyperostosis, Increas...	ORPHA:3152
Pseudoachondroplasia	Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi...	OMIM:177170
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Hip flexor weakness, Distal lower limb muscle weakness, Distal upper limb muscle weakness, Cardio...	ORPHA:63273
Multiple Synostoses Syndrome 1	Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec...	OMIM:186500
Achondrogenesis, Type Ia	Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull...	OMIM:200600
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Humero-Radial Synostosis	Tarsal synostosis, Abnormality of the wrist, Aplasia/Hypoplasia of the thumb, Limitation of joint...	ORPHA:3265
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ...	OMIM:182255
Metatropic Dysplasia	Abnormal metaphysis morphology, Abnormal cortical bone morphology, Clinodactyly of the 5th finger...	ORPHA:2635
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Tibial bowing, Iris atrophy, Kyphosis, Microcephaly, Biconcave vertebral bodies, ...	OMIM:259770
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Rhizomelia, Barrel-shaped chest, Relative macrocephaly, Broad thumb, Mesomelia, Brachydactyly, Jo...	ORPHA:171866
Dermatoosteolysis, Kirghizian Type	Abnormal metaphysis morphology, Abnormality of the hand, Tarsal synostosis, Abnormal diaphysis mo...	ORPHA:1657
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Sheldon-Hall Syndrome	Bilateral single transverse palmar creases, Tarsal synostosis, Abnormal hip bone morphology, Scol...	ORPHA:1147
Otopalatodigital Syndrome Type 2	Developmental glaucoma, Flared iliac wing, Abnormal cardiac septum morphology, Fibular aplasia, T...	ORPHA:90652
Brachydactyly, Type B2	Aplasia/Hypoplasia of the distal phalanges of the hand, Tarsal synostosis, Distal symphalangism o...	OMIM:611377
Fucosidosis	Absent/hypoplastic coccyx, Splenomegaly, Cardiomegaly, Coxa valga, Anterior beaking of thoracic v...	OMIM:230000
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Macrocephaly, Barrel-shaped chest, Increased bone mineral density, Hypercalciuria, In...	OMIM:239000
Endosteal Hyperostosis, Worth Type	Diaphyseal undertubulation, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial...	ORPHA:2790
Multiple Synostoses Syndrome 2	Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia...	OMIM:610017
Liebenberg Syndrome	Abnormal carpal morphology, Joint contracture of the 5th finger, Elbow flexion contracture, Radia...	OMIM:186550
Multiple Synostoses Syndrome 3	Cubitus valgus, Limited interphalangeal movement, Metacarpal synostosis, Humeroradial synostosis,...	OMIM:612961
Jackson-Weiss Syndrome	Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t...	OMIM:123150
Achondrogenesis, Type Ii	Short tubular bones of the hand, Stillbirth, Abnormal foot morphology, Barrel-shaped chest, Hypop...	OMIM:200610
Anauxetic Dysplasia 2	Cubitus valgus, Relative macrocephaly, Thoracolumbar kyphoscoliosis, Hyperlordosis, Cervical spin...	OMIM:617396
Nievergelt Syndrome	Pes cavus, Tarsal synostosis, Genu valgum, Metatarsus adductus, Radial head subluxation, Mesomeli...	OMIM:163400
Acropectorovertebral Dysplasia	Tarsal synostosis, Triphalangeal thumb, Finger syndactyly, Synostosis of carpal bones, Pectus exc...	ORPHA:957
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the...	ORPHA:2064
Gne Myopathy	Lower limb amyotrophy, Cardiomyopathy, Limited wrist extension, Limited shoulder movement, Lower ...	ORPHA:602
Syndactyly Type 5	Clinodactyly of the 5th finger, Metacarpal synostosis, 2-3 toe syndactyly, Camptodactyly of finge...	ORPHA:93406
Temtamy Preaxial Brachydactyly Syndrome	Synostosis of carpals/tarsals, Radial deviation of finger, Clinodactyly of the 2nd finger, Comple...	ORPHA:363417
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop...	OMIM:615415
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r...	ORPHA:93314
Craniosynostosis, Adelaide Type	Cone-shaped epiphyses of the phalanges of the hand, Shortening of all middle phalanges of the fin...	OMIM:600593
Talonavicular Coalition	Clinodactyly of the 5th finger, Short hallux, Proximal/middle symphalangism of 5th finger, Abnorm...	OMIM:186750
Winchester Syndrome	Carpal osteolysis, Arthropathy, Corneal opacity, Broad metacarpals, Kyphosis, Generalized osteopo...	OMIM:277950
Brachyolmia Type 3	Radial deviation of finger, Barrel-shaped chest, Scoliosis, Kyphosis, Short femoral neck, Platysp...	OMIM:113500
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Coxa vara, Hy...	OMIM:147891
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte...	OMIM:618469
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Abnormal cortical bone morphology, Abnormal hip bone morphology, Ab...	ORPHA:970
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Spondylocarpotarsal Synostosis Syndrome	Pectus carinatum, Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis...	OMIM:272460
Synpolydactyly 2	Polydactyly, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Metatarsal synostosis, Car...	OMIM:608180
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Multiple joint dislocation, Kyphosis, Slender metacarpals, Metaphyseal irregulari...	ORPHA:93360
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,...	OMIM:613885
Familial Expansile Osteolysis	Thin bony cortex, Pathologic fracture, Osteolysis, Bowing of the long bones	OMIM:174810
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Reduced bone mineral density, Delayed ossification of carpal bones, Irregular acetabular roof, De...	OMIM:617974
Symphalangism, Proximal, 1A	Tarsal synostosis, Distal symphalangism of hands, Proximal symphalangism of hands, Metacarpophala...	OMIM:185800
Hip Dysplasia, Beukes Type	Abnormal bone ossification, Abnormality of bone mineral density, Hip dysplasia, Coxa vara, Broad ...	ORPHA:2114
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Increased bone mineral density, Limb undergrowth, Splenomegaly...	ORPHA:2204
Caffey Disease	Subperiosteal bone formation, Calvarial hyperostosis, Tibial bowing, Cortical irregularity, Perio...	OMIM:114000
Synostoses, Tarsal, Carpal, And Digital	Tarsal synostosis, Short metacarpal, Radial head subluxation, Carpal synostosis, Metacarpophalang...	OMIM:186400
Odontochondrodysplasia 1	Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ...	OMIM:184260
Spondyloenchondrodysplasia With Immune Dysregulation	Short iliac bones, Kyphoscoliosis, Platyspondyly, Metaphyseal sclerosis, Barrel-shaped chest, Tub...	OMIM:607944
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Pectus carinatum, Joint stiffness, Abnormal heart morphology, Deep palmar crease...	ORPHA:505248
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Inguinal hernia, Pectus carinatum, Delayed ossification of carpal b...	OMIM:618392
Epiphyseal Dysplasia, Multiple, 7	Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl...	OMIM:617719
Fatco Syndrome	Abnormal fibula morphology, Tarsal synostosis, Abnormal tibia morphology, Finger syndactyly, Spli...	ORPHA:2492
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Abnormal mitral valve morphology, Mesomelia, Brachydactyly, Long th...	ORPHA:1277
Muenke Syndrome	Tarsal synostosis, Macrocephaly, Short foot, Coronal craniosynostosis, Short palm, Cone-shaped ep...	ORPHA:53271
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Distal Limb Deficiencies-Micrognathia Syndrome	Macrocephaly, Tarsal synostosis, Abnormal metacarpal morphology, Abnormality of the wrist, Aplasi...	ORPHA:1307
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Microphthalmia With Limb Anomalies	Bilateral single transverse palmar creases, Sandal gap, Abnormal form of the vertebral bodies, Ab...	ORPHA:1106
Leri-Weill Dyschondrosteosis	Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi...	OMIM:127300
Multiple Epiphyseal Dysplasia Type 4	Skewfoot, Stiff ankle, Short metacarpal, Joint stiffness, Accelerated skeletal maturation, Broad ...	ORPHA:93307
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Proximal tibial and fibular fusion, Hypertension, Femoral bowing, Short metac...	ORPHA:95699
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Ulnar Hemimelia	Limited elbow movement, Dislocated radial head, Elbow pain, Congenital finger flexion contracture...	ORPHA:93320
Mucolipidosis Iii Alpha/Beta	Spondylolisthesis, Short long bone, Cardiomyopathy, Short ribs, Kyphosis, Severely reduced left v...	OMIM:252600
Epiphyseal Dysplasia, Multiple, 5	Genu valgum, Irregular epiphyses, Arthralgia of the hip, Small epiphyses, Delayed ossification of...	OMIM:607078
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Upper limb undergrowth, Limitation of joint mobility, Toe clin...	ORPHA:166277
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Hypospadias, Barrel-shaped chest, Interrupted aortic arch, Narrow...	OMIM:300712
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:2378
Dyggve-Melchior-Clausen Disease	Abnormal hip bone morphology, Abnormal femoral head morphology, Pectus carinatum, Short long bone...	ORPHA:239
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Slender di...	OMIM:603546
Radial Hemimelia	Abnormal thumb morphology, Abnormality of the trapezium, Aplasia of the 1st metacarpal, Abnormali...	ORPHA:93321
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Temtamy Preaxial Brachydactyly Syndrome	Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Short metacarpal, Syndactyly, Brachydactyl...	OMIM:605282
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Abnormal bone ossification, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal tr...	ORPHA:1952
Multiple Osteochondromas	Abnormal femur morphology, Limitation of knee mobility, Deformed forearm bones, Abnormal lower li...	ORPHA:321
Cleft Palate-Stapes Fixation-Oligodontia Syndrome	Abnormality of the ankle, Abnormality of the wrist, Tarsal synostosis, Carpal synostosis	ORPHA:2010
Spondylometaphyseal Dysplasia, Kozlowski Type	Narrow greater sciatic notch, Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:184252
Legg-Calvé-Perthes Disease	Joint dislocation, Avascular necrosis, Delayed skeletal maturation, Skeletal muscle atrophy, Cart...	ORPHA:2380
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Abnormal form of th...	ORPHA:3429
Axial Spondylometaphyseal Dysplasia	Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short...	ORPHA:168549
Isolated Osteopoikilosis	Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar...	ORPHA:166119
Diaphanospondylodysostosis	Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Narro...	ORPHA:66637
Menkes Disease	Abnormal carotid artery morphology, Gastrointestinal hemorrhage, Pectus excavatum, Microcephaly, ...	ORPHA:565
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Genu valgum, Metaphyseal widening, Metaphy...	OMIM:265900
Cranio-Osteoarthropathy	Abnormal tibia morphology, Abnormal cortical bone morphology, Arthritis, Joint stiffness, Deviati...	ORPHA:1525
Symphalangism, Distal	Distal symphalangism of hands, Absent dorsal skin creases over affected joints, Brachydactyly, Cr...	OMIM:185700
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Aplas...	OMIM:609432
Multiple Epiphyseal Dysplasia, Beighton Type	Lumbar platyspondyly, Abnormal hand metaphysis morphology, Joint stiffness, Biconcave vertebral b...	ORPHA:166011
Langer Mesomelic Dysplasia	Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t...	ORPHA:2632
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh...	ORPHA:457395
Spondyloepiphyseal Dysplasia, Maroteaux Type	Kyphoscoliosis, Genu valgum, Pectus carinatum, Generalized osteoporosis, Short palm, Mucopolysacc...	OMIM:184095
3M Syndrome	Rocker bottom foot, Enlarged thorax, Hyperlordosis, Kyphosis, Hypoplastic pelvis, Hypoplastic isc...	ORPHA:2616
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of...	OMIM:609616
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Desbuquois Dysplasia 1	Developmental glaucoma, Sandal gap, Hyperlordosis, Flat acetabular roof, Kyphosis, Broad femoral ...	OMIM:251450
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Scarf Syndrome	Lambdoidal craniosynostosis, Barrel-shaped chest, Inguinal hernia, Abnormal form of the vertebral...	OMIM:312830
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Abnormality of the ankle	ORPHA:1412
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Juberg-Hayward Syndrome	Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Microcephal...	OMIM:216100
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia	OMIM:615524
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic tra...	ORPHA:858
Kniest Dysplasia	Enlarged metaphyses, Aplasia/Hypoplasia of the lens, Short long bone, Dumbbell-shaped long bone, ...	ORPHA:485
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Scoliosis, Cardiomy...	OMIM:608099
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Mesomelia, Carpal synostosis, Radial bowing	OMIM:156232
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Genu valgum, Inguinal hernia, Small epiphyses, Short thorax, Scoliosis, Short lon...	OMIM:618363
Osteogenesis Imperfecta, Type Xiii	Kyphoscoliosis, Reduced bone mineral density, Limitation of knee mobility, Wide distal femoral me...	OMIM:614856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist...	OMIM:619566
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Cervical C2/C3 vertebral...	OMIM:142900
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Chondrodysplasia, Blomstrand Type	Stillbirth, Abnormal vertebral morphology, Narrow chest, Flared metaphysis, Squared iliac bones, ...	OMIM:215045
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Metacarpal osteolysis, Wrist swelling, Ankle swelling, Pes cavus, Carpal osteolysis, ...	OMIM:166300
Maternal Uniparental Disomy Of Chromosome X	Rocker bottom foot, Congestive heart failure, Cubitus valgus, Scoliosis, Microcephaly, Camptodact...	ORPHA:261519
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Caffey Disease	Increased circulating antibody level, Calvarial hyperostosis, Periosteal thickening of long tubul...	ORPHA:1310
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Enlarged kidney, Fibular bowing, Hypospadias, Sandal gap, Hitchhiker thumb,...	OMIM:612651
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Delayed skeletal maturation, Sle...	OMIM:608154
Mckusick-Kaufman Syndrome	Tarsal synostosis, Abnormal metacarpal morphology, Patent ductus arteriosus, Finger syndactyly, G...	ORPHA:2473
Metaphyseal Chondrodysplasia, Schmid Type	Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l...	ORPHA:174
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Nail-Patella Syndrome	Reduced bone mineral density, Abnormal femur morphology, Coronary artery dissection, Spondylolist...	ORPHA:2614
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ...	OMIM:602088
Myasthenic Syndrome, Congenital, 19	Pes cavus, Spinal rigidity, Barrel-shaped chest, Distal joint hypermobility, Pectus carinatum, Fa...	OMIM:616720
Chromosome 18P Deletion Syndrome	Hypomimic face, Radial deviation of finger, Clinodactyly of the 5th finger, Barrel-shaped chest, ...	OMIM:146390
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Slender long bone, Bowing of the long bones, Multiple prenatal frac...	OMIM:619795
Mucopolysaccharidosis Type 1	Abnormal hip bone morphology, Abnormal form of the vertebral bodies, Enlarged thorax, Corneal opa...	ORPHA:579
Mesomelia-Synostoses Syndrome	Abnormal femur morphology, Joint stiffness, Mesomelia, Abnormality of the hand, Abnormal tibia mo...	ORPHA:2496
1Q21.1 Microduplication Syndrome	Macrocephaly, Hypospadias, Tetralogy of Fallot, Hip dysplasia, Cataract, Arthrogryposis multiplex...	ORPHA:250994
Kniest Dysplasia	Tibial bowing, Pectus excavatum, Dumbbell-shaped long bone, Hypoplastic pelvis, Dumbbell-shaped f...	OMIM:156550
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Dislocated radial head, Femoral bowing, Pectus excava...	OMIM:311300
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Carpal bone hypoplasia, Multiple joint dislocation, Platyspondyly, Disloc...	OMIM:618395
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Delayed skeletal maturation, Dysplastic tricuspid valve, Joint h...	OMIM:157800
Schneckenbecken Dysplasia	Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Th...	OMIM:269250
Mucopolysaccharidosis Type 7	Diaphyseal undertubulation, Anterior beaking of lumbar vertebrae, Arteriovenous malformation, Abn...	ORPHA:584
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi...	OMIM:620135
Peroxisome Biogenesis Disorder 8A (Zellweger)	Jaundice, Hepatomegaly, Epiphyseal stippling, Elevated circulating aspartate aminotransferase con...	OMIM:614876
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion cont...	ORPHA:206549
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Spinal rigidity, Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystr...	OMIM:181350
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Costello Syndrome	Limited elbow movement, Rhabdomyosarcoma, Deep plantar creases, Pectus carinatum, Pulmonic stenos...	OMIM:218040
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Talo-Patello-Scaphoid Osteolysis	Short 4th metacarpal, Synovitis, Enlarged joints, Osteolysis of patellae, Osteolysis of talus, Os...	ORPHA:50809
Larsen Syndrome	Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Corneal opacity, Short met...	OMIM:150250
Acropectorovertebral Dysplasia	Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa...	OMIM:102510
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t...	ORPHA:93267
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Myopathy, X-Linked, With Postural Muscle Atrophy	Spinal rigidity, Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: ...	OMIM:300696
Platyspondylic Dysplasia, Torrance Type	Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cupping, Short thorax, Bowin...	ORPHA:85166
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Cubitus valgus, Short thorax, Abnormal metatarsal morphology, Short long bone, Enlarged thorax, A...	ORPHA:163654
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Macrocephaly, Abnormal cartilage matrix, Narrow chest, Flared metaph...	ORPHA:2347
49,Xyyyy Syndrome	Large carpal bones, Abnormality of the epiphyses of the elbow, Cubitus valgus, Scoliosis, Bridged...	ORPHA:99330
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Symphalangism Of Toes	Synostosis involving bones of the toes	OMIM:185600
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Limited elbow extension, Hypoplasia of the ulna, Type E brachydactyly, Delayed pubic bone ossific...	ORPHA:1856
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki...	OMIM:601186
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Ollier Disease	Abnormal metaphysis morphology, Platyspondyly, Bone pain, Micromelia, Joint stiffness, Abnormal c...	ORPHA:296
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Ophthalmomandibulomelic Dysplasia	Ulnar deviated club hands, Abnormality of bone mineral density, Limitation of joint mobility, Syn...	ORPHA:2741
Spondyloepimetaphyseal Dysplasia, Irapa Type	Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti...	OMIM:271650
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Short long bone, Short ribs, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var...	OMIM:250420
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Abnormal form of the vertebral bodies, Osteolysis involving bones of the lower limbs, Broad clavi...	ORPHA:371428
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal, Shield chest, Short neck, Micropenis	ORPHA:261524
Holt-Oram Syndrome	Pectus excavatum, Kyphosis, Joint stiffness, Broad thumb, Absent thumb, Abnormal clavicle morphol...	ORPHA:392
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Decreased movemen...	OMIM:609115
Grant Syndrome	Abnormal cortical bone morphology, Decreased skull ossification, Bowing of the long bones, Abnorm...	ORPHA:2097
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Spinal rigidity, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystrogl...	OMIM:609308
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Mucopolysaccharidosis-Plus Syndrome	Optic atrophy, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal seg...	OMIM:617303
Bone Dysplasia, Lethal Holmgren Type	Abnormal thumb morphology, Abnormality of the hand, Abnormal femur morphology, Rhizomelia, Abnorm...	ORPHA:1842
Multicentric Osteolysis, Nodulosis, And Arthropathy	Kyphoscoliosis, Ankylosis of feet small joints, Thin metacarpal cortices, Corneal opacity, Wrist ...	OMIM:259600
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Platyspondyly, Abnormal intervertebral disk morphology, Avascular necro...	ORPHA:1345
Desbuquois Dysplasia 2	Pectus carinatum, Relative macrocephaly, Short long bone, Flat acetabular roof, Short metacarpal,...	OMIM:615777
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il...	OMIM:271640
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Small epiphyses, Scoliosis, Short long bone, Knee dislocation, Lumbar scoliosis, Joint hypermobil...	OMIM:620269
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:600081
Atelosteogenesis, Type Ii	Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Dumbbell-shaped fem...	OMIM:256050
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal...	OMIM:614851
Multiple Synostoses Syndrome 4	Tarsal synostosis, Broad foot, Brachydactyly, Overlapping toe, Pes planus	OMIM:617898
Microphthalmia With Limb Anomalies	Fibular hypoplasia, 2-3 toe cutaneous syndactyly, Pes valgus, Sacral dimple, Sandal gap, Camptoda...	OMIM:206920
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri...	ORPHA:251071
Noonan Syndrome 13	Limited elbow extension, Blue irides, Pes planus, Cubitus valgus, Scoliosis, Enlarged thorax, Tap...	OMIM:619087
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Orofaciodigital Syndrome Type 1	Reduced bone mineral density, Elevated circulating hepatic transaminase concentration, Hypertensi...	ORPHA:2750
Gorham-Stout Disease	Osteopenia, Abnormal bone ossification, Abnormal femur morphology, Osteolysis involving bones of ...	ORPHA:73
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Fibular aplasia, Coalescence of tarsal bones, Finger aplasia	OMIM:165590
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Achondrogenesis Type 2	Abnormal bone ossification, Delayed pubic bone ossification, Narrow chest, Short long bone, Short...	ORPHA:93296
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Fatty replacement of ...	OMIM:301075
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:300554
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Abnormal vertebral morphology, Small epiphyses, Flared metaphysi...	ORPHA:93346
Endosteal Hyperostosis, Autosomal Dominant	Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Abnormal pelvic gi...	OMIM:144750
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Distal Nebulin Myopathy	Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Nemaline bodies, Weaknes...	ORPHA:399103
Combined Saposin Deficiency	Optic atrophy, Hepatomegaly, Splenomegaly	OMIM:611721
Spondylometaphyseal Dysplasia, Pagnamenta Type	Short 4th metacarpal, Rhizomelia, Femoral bowing, Broad thumb, Short 5th metacarpal, Thin bony co...	OMIM:619638
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Tarsal synostosis, Hypospadias, Short thorax, Wide anterior fontane...	ORPHA:85199
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Pat...	ORPHA:88630
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxial abnormality, Microcephaly, ...	ORPHA:3433
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:488232
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the hume...	ORPHA:1275
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Abnormality of cranial sutures, Abnormal bone ossification, Flat acetabular roof, Wide proximal f...	ORPHA:163649
Trisomy 13	Optic atrophy, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the u...	ORPHA:3378
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cardiom...	OMIM:613313
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Cataract, Micromelia, Microcephaly, Decreased calvarial ossification, Abnorm...	ORPHA:2772
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Mitral valve prolapse, Joint hype...	ORPHA:1900
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hajdu-Cheney Syndrome	Kyphoscoliosis, Dislocated radial head, Biconcave vertebral bodies, Crowded carpal bones, Patholo...	OMIM:102500
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Elevated c...	OMIM:608836
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Delayed ossification of carpal bones...	OMIM:105835
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short long bone, Short metacarpa...	OMIM:611717
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Fatty replacement of skeletal muscle, Abnormal long bone morphology, Ab...	ORPHA:52430
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Limited elbow movement, Kyphoscoliosis, Elevated circulating hepatic tra...	OMIM:300280
Short Stature, Brussels Type	Macrocephaly, Narrow chest, Delayed epiphyseal ossification, Calcification of cartilage, Horsesho...	ORPHA:2867
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Ck Syndrome	Joint hypermobility, Abnormal cortical bone morphology, Abnormal digit morphology	OMIM:300831
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Enlarged thorax, Limitation of joint mobility, Microcephaly, Camptodactyly of finger, Short neck,...	ORPHA:2570
Nail-Patella Syndrome	Microphakia, Pectus excavatum, Patellar dislocation, Keratoconus, Disproportionate prominence of ...	OMIM:161200
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Osteopetrosis, Autosomal Dominant 1	Osteopetrosis, Calvarial osteosclerosis, Abnormal pelvic girdle bone morphology, Thickened cortex...	OMIM:607634
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di...	OMIM:614065
Mesomelia-Synostoses Syndrome	Narrow foot, Carpometacarpal synostosis, Abnormal vertebral morphology, Short metatarsal, Metacar...	OMIM:600383
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d...	ORPHA:90650
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Abnormal hip bone morphology, Slender long bone, Limitation of...	ORPHA:1486
Enthesitis-Related Juvenile Idiopathic Arthritis	Thickened Achilles tendon, Abnormal heart morphology, Mitral valve prolapse, Limited mobility of ...	ORPHA:85438
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver...	OMIM:176240
Osteopetrosis, Autosomal Recessive 8	Optic atrophy, Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Delayed ...	OMIM:255800
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Narrow greater sciatic notch, Equinovarus deformity, Narrow chest, Lens luxation, Short long bone...	OMIM:224400
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Giant Axonal Neuropathy 2, Autosomal Dominant	Pes cavus, Distal amyotrophy, Cardiomyopathy, Hammertoe	OMIM:610100
Noonan Syndrome 7	Macrocephaly, Cubitus valgus, Deep palmar crease, Pectus carinatum, Scoliosis, Pectus excavatum, ...	OMIM:613706
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Sple...	OMIM:252500
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Mucopolysaccharidosis, Type Vii	Narrow greater sciatic notch, Pectus carinatum, Cardiomyopathy, Corneal opacity, Large iliac wing...	OMIM:253220
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal ilium morphology, Abnormality of the medullary cavity of the ...	ORPHA:83468
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Kyphoscoliosis, Platyspondyly, Talipes equinovarus, Flared metaphysis, Aortic root an...	OMIM:615349
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Myopathy, Myofibrillar, 6	Muscular dystrophy, Pes cavus, Pes valgus, Spinal rigidity, Knee flexion contracture, Scoliosis, ...	OMIM:612954
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Femoral bowing, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Clinodactyly of the 5th finger, Genu valgum, Narrow chest, Clubbin...	OMIM:619143
Alpha-Mannosidosis	Macrocephaly, Hepatomegaly, Craniofacial hyperostosis, Avascular necrosis, Inguinal hernia, Arthr...	ORPHA:61
Proteus Syndrome	Kyphoscoliosis, Macrocephaly, Venous malformation, Calvarial hyperostosis, Mandibular hyperostosi...	OMIM:176920
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Delayed ossification of carpal bones, Relative macrocephaly, Biconcave vertebral ...	OMIM:271510
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowin...	OMIM:241530
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Aplasia/Hypoplasia of metatarsal bones, Flared metaphysis, Narrow iliac wing, Short long bone, Wi...	ORPHA:2502
Chondrodysplasia With Joint Dislocations, Gpapp Type	Limited elbow extension, Genu valgum, Intervertebral space narrowing, Irregular epiphyses of the ...	OMIM:614078
Rhizomelic Chondrodysplasia Punctata	Abnormal metaphysis morphology, Rhizomelia, Spina bifida occulta, Epiphyseal stippling, Scoliosis...	ORPHA:177
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Cantú Syndrome	Deep plantar creases, Delayed skeletal maturation, Accelerated skeletal maturation, Short distal ...	ORPHA:1517
Ivic Syndrome	Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis...	OMIM:147750
Childhood-Onset Nemaline Myopathy	Pes cavus, Generalized limb muscle atrophy, Type 1 muscle fiber predominance, Spinal rigidity, Na...	ORPHA:171439
Familial Atrial Myxoma	Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca...	ORPHA:615
Spondyloocular Syndrome	Osteopenia, Femur fracture, Posterior subcapsular cataract, Pes planus, Platyspondyly, Vertebral ...	OMIM:605822
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Nemaline b...	OMIM:606842
Codas Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Broad skull, Short metacarpal,...	OMIM:600373
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Abnormal bone ossification, Metaphyseal enchondromatosis, Metaphyseal irregularity, Multiple ench...	ORPHA:99646
Meacham Syndrome	Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo...	OMIM:608978
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short ribs, Decreased skull ossification, Multiple prenatal fractures, Microcephaly, Thoracic hyp...	OMIM:616897
Syndactyly, Type V	Enlarged proximal interphalangeal joints, 4-5 toe syndactyly, Absent distal interphalangeal creas...	OMIM:186300
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Rhizomelia, Inguinal hernia, Epiphyseal stippling, Scoliosis, Zonular cataract, Stipp...	OMIM:222765
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Leopard Syndrome 3	Macrocephaly, Abnormal aortic valve morphology, Cubitus valgus, Delayed skeletal maturation, Abno...	OMIM:613707
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia...	OMIM:314390
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh...	OMIM:271665
Cardiac-Urogenital Syndrome	Atrial septal defect, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial anomalous pul...	OMIM:618280
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Senior-Loken Syndrome	Nephronophthisis, Abnormality of bone mineral density, Hypertension, Congenital hepatic fibrosis,...	ORPHA:3156
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Martsolf Syndrome 1	Slender ulna, Pectus carinatum, Cardiomyopathy, Short metacarpal, Pectus excavatum, Microcephaly,...	OMIM:212720
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Cone-shaped epiphyses of the middle phalanges of the hand, Absent trapezium, Absent scaphoid, Dis...	OMIM:606895
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Bowing of the long bones, Generalized osteoporosis, Joint hypermobility, Recurren...	OMIM:617952
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Abs...	OMIM:274000
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Platyspondyly, Cone-shaped epiphyses of the phalanges of the hand, Irregularity of vertebral bodi...	ORPHA:85172
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Distal lower limb muscle weakness, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffn...	ORPHA:320360
Spondyloepimetaphyseal Dysplasia, X-Linked	Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car...	OMIM:300106
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Scoliosis, Femoral ...	OMIM:616723
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Hypos...	ORPHA:568
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Hypoplastic iliac wing, Pectus carinatum, Sinus tachycardia, Cardiomyopathy, Corn...	OMIM:253200
Absence Deformity Of Leg-Cataract Syndrome	Abnormal femur morphology, Abnormality of the lower limb, Scoliosis, Hyperlordosis, Abnormal epip...	ORPHA:2310
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormal metaphysis morphology, Reduced bone mineral density, Anemia, Lymphopenia, Agammaglobulin...	ORPHA:935
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Short tubular bones of the hand, Osteopenia, Abnormal diaphysis morphology, Increased bone minera...	ORPHA:85184
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Narrow greater sciatic notch, Kyphoscoliosis, Platyspondyly, Dislocated radial head, Progressive ...	OMIM:617425
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Melnick-Needles Syndrome	Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Abnormal cortica...	ORPHA:2484
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Clinodactyly of the 5th finger, Short hallux, Metacarpal synostosis, Finger syndactyly, 2-3 toe s...	ORPHA:157801
Cartilage-Hair Hypoplasia	Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for...	ORPHA:175
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Polysplen...	OMIM:620642
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Corneal opacity, Flared iliac wing, Dermatan sulfate excr...	OMIM:607014
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Metacarpal osteolysis, Wrist swelling, Abnormality of the wrist, Carpal osteolysis, Slender long ...	ORPHA:2774
Stickler Syndrome, Type Iv	Astigmatism, Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Platysp...	OMIM:614134
Weill-Marchesani Syndrome	Limitation of joint mobility, Pulmonic stenosis, Aortic valve stenosis, Ectopia lentis, Short thu...	ORPHA:3449
Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular...	ORPHA:98853
Larsen Syndrome	Broad distal phalanx of finger, Large joint dislocations, Finger syndactyly, Scoliosis, Laryngotr...	ORPHA:503
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Arthrogryposis, Distal, Type 1A	Rocker bottom foot, Single transverse palmar crease, Scoliosis, Elbow flexion contracture, Ulnar ...	OMIM:108120
Cardiac-Valvular Ehlers-Danlos Syndrome	Hypermobility of distal interphalangeal joints, Kyphoscoliosis, Sandal gap, Pectus excavatum, Mit...	ORPHA:230851
Neonatal Marfan Syndrome	Pectus carinatum, Enlarged thorax, Arachnodactyly, Mitral valve prolapse, Heart murmur, Joint hyp...	ORPHA:284979
Spondyloepimetaphyseal Dysplasia, Missouri Type	Small epiphyses, Flared metaphysis, Knee osteoarthritis, Femoral bowing, Tibial bowing, Short low...	ORPHA:93356
Pyknoachondrogenesis	Increased head circumference, Short iliac bones, Craniofacial hyperostosis, Abnormal iliac wing m...	ORPHA:3003
Steel Syndrome	Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Scoli...	OMIM:615155
Codas Syndrome	Hydroureter, Abnormal form of the vertebral bodies, Scoliosis, Short metacarpal, Cataract, Abnorm...	ORPHA:1458
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy	ORPHA:85447
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Na...	OMIM:617925
X-Linked Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular...	ORPHA:98863
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:264700
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Weill-Marchesani Syndrome 1	Broad skull, Broad metatarsal, Joint stiffness, Aortic valve stenosis, Pulmonic stenosis, Broad r...	OMIM:277600
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Roifman Syndrome	Hepatomegaly, Clinodactyly of the 5th finger, Biconvex vertebral bodies, Noncompaction cardiomyop...	OMIM:616651
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:300009
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Vitamin D-Dependent Rickets, Type 2A	Rickets, Fibular bowing, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Sparse b...	OMIM:277440
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Congenital Vertical Talus	Rocker bottom foot, Abnormality of the foot musculature, Lower extremity joint dislocation, Foot ...	ORPHA:178382
Noonan Syndrome	Pectus carinatum, Enlarged thorax, Pectus excavatum, Delayed skeletal maturation, Arrhythmia, Joi...	ORPHA:648
Epiphyseal Dysplasia, Baumann Type	Marked delay in bone age, Genu valgum, Clinodactyly of the 5th finger, Carpal bone aplasia, Absen...	OMIM:610797
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Spinal rigidity, Hyperlordosis, Pectus excavatum, Kyphosis, Joint stiffness, Limb-girdle muscular...	ORPHA:98855
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Bell-shaped thorax, Inguinal hernia, Homocystinuria, Horizontal ribs, Pulmona...	OMIM:614857
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste...	OMIM:600649
Alg3-Cdg	Osteopenia, Decreased liver function, Coarctation of the descending aortic arch, Cardiomyopathy, ...	ORPHA:79321
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Scoliosis, Supraventricular tachycardia, Organic aciduria, Cardiomyopathy, Fatty replacement of s...	OMIM:255100
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Congenital Myopathy 24	Pes cavus, Cardiomyopathy, Pectus excavatum, Scapular winging, Nemaline bodies, Facial palsy, Fir...	OMIM:617336
Noonan Syndrome 2	Abnormal coronary artery origin, Abnormal sternum morphology, Pectus carinatum, Relative macrocep...	OMIM:605275
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Spinal rigidity, Calf muscle hypertrophy, Scoliosis, Cardiomyopathy, Triceps ...	ORPHA:86812
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Abnormality of re...	ORPHA:290
Meckel Syndrome	Optic atrophy, Situs inversus totalis, Microphthalmia, Ureteral duplication, Multicystic kidney d...	ORPHA:564
Ruvalcaba Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Inguinal hernia, Hematuria, Abnormal...	ORPHA:3121
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Sandal gap, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus calcaneus, Abnorm...	ORPHA:536532
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Microcephaly, Joint contracture, Splenomegaly, Flexion contracture	OMIM:608540
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Renal hypoplasia/aplasia, Anophthalmia, Truncus arteriosus, Renal a...	ORPHA:2538
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal vertebral morphology, Abnormal heart valve morphology, Cardiomyopathy, Lim...	ORPHA:93476
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Weill-Marchesani Syndrome 2	Flexion contracture of toe, Broad skull, Broad metatarsal, Short metacarpal, Joint stiffness, Del...	OMIM:608328
Roifman Syndrome	Bilateral single transverse palmar creases, Biconvex vertebral bodies, Clinodactyly of the 5th fi...	ORPHA:353298
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Cardiomyopathy, Nemaline bodies, Microcephaly, Thoracolumbar sco...	OMIM:616549
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Autosomal Recessive Stickler Syndrome	Astigmatism, Genu valgum, Platyspondyly, Abnormal epiphysis morphology, Cataract, Epiphyseal dysp...	ORPHA:250984
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Ventricular septal defect	ORPHA:77298
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Facial palsy, Microcephaly, Developm...	OMIM:613155
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the...	ORPHA:2557
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, U...	ORPHA:449395
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Brachytelephalangic Chondrodysplasia Punctata	Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal...	ORPHA:79345
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Linear Verrucous Nevus Syndrome	Macrocephaly, Reduced bone mineral density, Talipes, Genu recurvatum, Scoliosis, Short metacarpal...	ORPHA:2611
Multiple Pterygium Syndrome, Escobar Variant	Rocker bottom foot, Congenital diaphragmatic hernia, Dislocated radial head, Kyphosis, Arachnodac...	OMIM:265000
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Macrovesicular hepatic steatosis, Hepat...	OMIM:618234
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom...	OMIM:130650
2P15P16.1 Microdeletion Syndrome	Bilateral single transverse palmar creases, Aortic regurgitation, Inguinal hernia, Sandal gap, Mu...	ORPHA:261349
Hypocalcemic Vitamin D-Dependent Rickets	Generalized aminoaciduria, Femoral bowing, Cardiomyopathy, Tibial bowing, Splenomegaly, Genu varu...	ORPHA:289157
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Pectus excavatum, Camptodactyly of f...	ORPHA:272
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric aciduria	OMIM:613657
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, EMG: myopathic abnormalities, Hypertrophic cardiomyop...	OMIM:608810
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Acrodysostosis 2 With Or Without Hormone Resistance	Short metatarsal, Hypospadias, Short metacarpal, Short phalanx of finger, Spinal canal stenosis, ...	OMIM:614613
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Hypomelanosis Of Ito	Radial deviation of finger, Macrocephaly, Scoliosis, Kyphosis, Microcephaly, Hand polydactyly, Sy...	OMIM:300337
Tibial Aplasia-Ectrodactyly Syndrome	Popliteal pterygium, Fibular hypoplasia, Abnormal femur morphology, Abnormal fibula morphology, F...	ORPHA:3329
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio...	OMIM:252920
Triploidy	Macrocephaly, Abnormality of the gallbladder, Hypospadias, Narrow chest, Hypoplasia of penis, Abn...	ORPHA:3376
Monosomy 18P	Kyphoscoliosis, Hypertension, Enlarged thorax, Pectus excavatum, Microcephaly, Brachydactyly, Sho...	ORPHA:1598
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Genu valgum, Postaxial polydactyly, Limb undergrowth, Long thorax,...	OMIM:619142
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Posterior capsular cataract, ...	ORPHA:399058
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Madelung deformity, Short middle phal...	ORPHA:319675
Ruijs-Aalfs Syndrome	Posterior subcapsular cataract, Single transverse palmar crease, Elbow flexion contracture, Thora...	OMIM:616200
Brachydactyly Type B	Finger syndactyly, Short metacarpal, Synostosis of carpal bones, 2nd-5th toe middle phalangeal hy...	ORPHA:93383
Stickler Syndrome Type 1	Platyspondyly, Abnormal vertebral epiphysis morphology, Abnormal epiphysis morphology, Cataract, ...	ORPHA:90653
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Rocker bottom foot, Hypertension, Femoral bowing, Microcephaly, Arachnodactyly, Craniosynostosis,...	OMIM:201750
Marinesco-Sjögren Syndrome	Muscular dystrophy, Abnormal metacarpal morphology, Pectus carinatum, Abnormal finger morphology,...	ORPHA:559
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o...	ORPHA:3258
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ...	OMIM:212140
Baller-Gerold Syndrome	Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla...	ORPHA:1225
Spondylometaphyseal Dysplasia, Sedaghatian Type	Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone...	OMIM:250220
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Optic disc pallor	OMIM:619170
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:79312
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Microcephaly, Short Stature, And Limb Abnormalities	Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ...	OMIM:617604
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Flexion contracture of toe, Microcornea, Scoliosis, Finger joint contractur...	ORPHA:48431
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, E...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, E...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, E...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Reduced bone mineral density, Prolonged QT interval, Ectopic kidney, E...	ORPHA:881
Florid Cemento-Osseous Dysplasia	Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi...	ORPHA:83451
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu...	ORPHA:1344
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Anencephaly 2	Anophthalmia	OMIM:619452
Osteopathia Striata-Cranial Sclerosis Syndrome	Abnormal metaphysis morphology, Osteopetrosis, Macrocephaly, Spina bifida occulta, Asymmetry of t...	ORPHA:2780
Trisomy 1Q	Congenital megaureter, Anophthalmia, Hydronephrosis, Ventricular septal defect, Multicystic kidne...	ORPHA:261344
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Short clavicles, Recurrent shoulder dislocation, Cardiomyopathy, Finger joint contrac...	OMIM:212112
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr...	OMIM:255160
Occipital Horn Syndrome	Pectus carinatum, Large iliac wing, Pectus excavatum, Absent tibia, Cholestasis, Kyphosis, Aplasi...	ORPHA:198
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Hepatic fibrosis, Splenomegaly, Chronic kidney disea...	OMIM:615630
Stickler Syndrome, Type I	Beaking of vertebral bodies, Abnormal femoral epiphysis morphology, Platyspondyly, Spondylolisthe...	OMIM:108300
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Distal Symphalangism	Joint stiffness, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Syno...	ORPHA:3248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Microcephaly, Limb-g...	OMIM:615352
Brachydactyly Type B2	Finger syndactyly, Short distal phalanx of toe, Synostosis of carpal bones, Short toe, Symphalang...	ORPHA:140908
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Spondylo-Ocular Syndrome	Platyspondyly, Abnormal intervertebral disk morphology, Aplasia/Hypoplasia of the lens, Facial hy...	ORPHA:85194
Saul-Wilson Syndrome	Platyspondyly, Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of t...	OMIM:618150
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Corneal opacity, Kyphosis, ...	ORPHA:354
Oculofaciocardiodental Syndrome	Iris coloboma, Clinodactyly of the 5th finger, Hammertoe, Genu valgum, Cubitus valgus, Patent duc...	ORPHA:2712
Meier-Gorlin Syndrome 1	Absent sternal ossification, Pectus carinatum, Short ribs, Microcephaly, Delayed skeletal maturat...	OMIM:224690
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Waardenburg Syndrome Type 3	Tracheomalacia, Abnormal finger morphology, Abnormality of the upper limb, Synostosis of carpal b...	ORPHA:896
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Turnpenny-Fry Syndrome	Pectus carinatum, Relative macrocephaly, Thoracic kyphoscoliosis, Pectus excavatum, Microcephaly,...	OMIM:618371
Three M Syndrome 3	Increased vertebral height, Clinodactyly of the 5th finger, Slender long bone, Short thorax, Hype...	OMIM:614205
Martsolf Syndrome 2	Camptodactyly, Microcephaly, Camptodactyly of finger, Developmental cataract, Cataract, Overlappi...	OMIM:619420
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Cardiac Lipidosis, Familial	Microcephaly, Congestive heart failure, Cardiomyopathy	OMIM:212080
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Stiff Skin Syndrome	Elbow flexion contracture, Camptodactyly, Cataract, Knee flexion contracture, Bicuspid aortic val...	OMIM:184900
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures	OMIM:304700
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Stroke, Cardiomyopathy, Decreased muscle glycogen content, Left ventricu...	OMIM:611556
Cardiofaciocutaneous Syndrome 1	Osteopenia, Macrocephaly, Clinodactyly of the 5th finger, Cubitus valgus, Deep palmar crease, Mul...	OMIM:115150
Bruck Syndrome 2	Osteopenia, Elbow flexion contracture, Femoral bowing, Flexion contracture, Knee flexion contract...	OMIM:609220
Developmental And Epileptic Encephalopathy 35	Microcephaly, Cardiomyopathy, Cataract	OMIM:616647
Mulibrey Nanism	Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastom...	OMIM:253250
Nevus Comedonicus Syndrome	Preaxial polydactyly, Abnormal foot morphology, Abnormal vertebral morphology, Spina bifida occul...	ORPHA:64754
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Shield chest, Short neck, Pectus excavatum, Thoracic scoliosis	OMIM:616994
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Alg1-Cdg	Decreased liver function, Progressive microcephaly, Scoliosis, Cardiomyopathy, Limitation of join...	ORPHA:79327
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:619064
Joubert Syndrome 21	Optic atrophy, Megalopapilla, Anophthalmia, Renal cyst, Hyperechogenic kidneys, Splenomegaly	OMIM:615636
Arterial Tortuosity Syndrome	Rocker bottom foot, Abnormal carotid artery morphology, Keratoglobus, Hypertension, Arachnodactyl...	ORPHA:3342
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Elevated circulating alanine aminotransferase concentr...	OMIM:620609
Trisomy 8Q	Deep palmar crease, Hypoplasia of penis, Bone cyst, Joint stiffness, Camptodactyly of finger, Sho...	ORPHA:1752
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Inguinal hernia, Genu recurvatum, Calcaneovalgus deformity, Pectus excavatu...	OMIM:225320
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Inguinal hernia, Scoliosis, Membranous subvalvular ao...	ORPHA:3191
Cleidocranial Dysplasia 2	Osteopenia, Genu valgum, Delayed pubic bone ossification, Short clavicles, Delayed ossification o...	OMIM:620099
Spondylometaphyseal Dysplasia, Algerian Type	Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi...	OMIM:184253
Hurler Syndrome	Hypertension, Cardiomyopathy, Corneal opacity, Splenomegaly, Abnormal epiphysis morphology, Abnor...	ORPHA:93473
Hand-Foot-Genital Syndrome	Proximal placement of thumb, Delayed ossification of carpal bones, Small thenar eminence, Ulnar d...	OMIM:140000
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect	OMIM:618652
Alkaptonuria	Reduced bone mineral density, Intervertebral disk calcification, Hypertension, Thickened Achilles...	ORPHA:56
Short Stature-Micrognathia Syndrome	Astigmatism, Rhizomelia, Penoscrotal hypospadias, Skeletal muscle hypertrophy, 2-3 toe syndactyly...	OMIM:617164
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Cardiomyopathy, Osteoarthritis, Arrhythmia, Cataract, Hepatic steatosis	OMIM:606069
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Femoral bowing, Recurrent fractures, Osteoporosis	OMIM:126550
Waardenburg Syndrome, Type 3	Scapular winging, Heterochromia iridis, Microcephaly, Camptodactyly of finger, Cutaneous finger s...	OMIM:148820
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia	ORPHA:90322
Hand-Foot-Genital Syndrome	Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa...	ORPHA:2438
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short long bone, Hyperlordosis, Metaphyseal irregularity, Joint hypermobility, Hip dislocation, C...	OMIM:616007
Even-Plus Syndrome	Patent foramen ovale, Vesicoureteral reflux, Vertebral clefting, Epiphyseal dysplasia, Renal hypo...	OMIM:616854
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Sandal gap, Small thenar eminence, Short humerus, Absent thumb, Syndactyly...	OMIM:607323
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card...	OMIM:261740
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Coffin-Lowry Syndrome	Abnormal form of the vertebral bodies, Pectus carinatum, Short metacarpal, Pectus excavatum, Kyph...	ORPHA:192
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Abnormal rib morphology, Microcephaly, Delayed skeletal maturation, Brachydactyly, Abno...	ORPHA:2643
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Roberts Syndrome	Bilateral single transverse palmar creases, Radial deviation of finger, Mesomelic arm shortening,...	ORPHA:3103
Walker-Warburg Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Hypoplasia of penis, Retinal detachment, Anopht...	ORPHA:899
Arthrogryposis, Distal, Type 11	Rocker bottom foot, Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Limited pronati...	OMIM:620019
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Hist...	ORPHA:168569
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Qazi-Markouizos Syndrome	Torticollis, Delayed ossification of carpal bones, Dysharmonic skeletal maturation, Pectus excava...	ORPHA:3010
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Cockayne Syndrome Type 1	Optic atrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Ano...	ORPHA:90321
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Micropenis, Anophthalmia	OMIM:610125
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Hyperlordosis, Wrist flexion contr...	ORPHA:800
Trisomy 17P	Clinodactyly of the 5th finger, Talipes, Hypoplasia of penis, Polycystic kidney dysplasia, Scolio...	ORPHA:261290
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomyopathy	OMIM:609016
Cardiofaciocutaneous Syndrome 3	Reduced bone mineral density, Scoliosis, Pectus excavatum, Hypertrophic cardiomyopathy, Pulmonic ...	OMIM:615279
Cerebrooculonasal Syndrome	Anophthalmia, Hypoplasia of penis	ORPHA:66625
Familial Calcium Pyrophosphate Deposition	Abnormal intervertebral disk morphology, Joint dislocation, Arthritis, Limitation of joint mobili...	ORPHA:1416
Alg9-Cdg	Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul...	ORPHA:79328
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Short iliac bones, Chronic tubulointerstitial nephritis, Pes valgus, Hepatomegaly, Rhizomelia, In...	OMIM:614376
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
3-Methylglutaconic Aciduria Type 4	Decreased liver function, 3-Methylglutaconic aciduria, Cardiomyopathy, Microcephaly, Iris hypopig...	ORPHA:67048
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Arthrogryposis, Distal, Type 2B1	Rocker bottom foot, Scoliosis, Absent phalangeal crease, Ulnar deviation of the hand or of finger...	OMIM:601680
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Sponastrime Dysplasia	Kyphoscoliosis, Dilatation of the cerebral artery, Relative macrocephaly, Short long bone, Congen...	ORPHA:93357
Mosaic Trisomy 8	Deep plantar creases, Clinodactyly of the 5th finger, Deep palmar crease, Narrow chest, Scoliosis...	ORPHA:96061
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Genu valgum, Hypospadias, Aplasia/Hypoplasia of the lens, Hypoplasia of penis, Tetralogy of Fallo...	ORPHA:1381
De Barsy Syndrome	Kyphoscoliosis, Progressive microcephaly, Corneal opacity, Pectus excavatum, Delayed skeletal mat...	ORPHA:2962
Mucolipidosis Type Ii	Cardiomyopathy, Kyphosis, Abnormal mitral valve morphology, Splenomegaly, Left ventricular hypert...	ORPHA:576
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa...	OMIM:304120
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Arthritis, Elevated jugular venous pressure, A...	ORPHA:465508
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Penoscrotal Transposition	Penoscrotal transposition, Bilateral single transverse palmar creases, Clinodactyly of the 5th fi...	ORPHA:2842
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Cubitus valgus, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgene...	OMIM:214110
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Periportal fibrosis, Hypertr...	OMIM:201475
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Ethylmalonic aciduria, Microcephaly, Increased level of methylsuccinic acid in ur...	ORPHA:26792
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Pachydermoperiostosis	Abnormal cortical bone morphology, Anemia, Arthritis, Limitation of joint mobility, Osteoporosis,...	ORPHA:2796
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Abnormal hip bone morphology, Finger syndactyly, Scoliosis, Hyperlordosis, Vertebral segmentation...	ORPHA:1323
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Muscular dystrophy, Calf muscle pseudohypertrophy, Calf muscle hypertro...	OMIM:310200
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Dystonia 31	Abnormal posturing	OMIM:619565
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Abnormal aortic ...	ORPHA:96334
46,Xy Sex Reversal 11	Abnormal internal genitalia, Aplasia of the uterus, Urogenital sinus anomaly, Vanishing testis, G...	OMIM:273250
Dent Disease	Tubulointerstitial fibrosis, Proximal tubulopathy, Nephrocalcinosis, Metaphyseal irregularity, Ri...	ORPHA:1652
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
3Q29 Microduplication Syndrome	Macrocephaly, Aniridia, Sandal gap, Biparietal narrowing, Camptodactyly of toe, Microcephaly, Sho...	ORPHA:251038
3Q29 Microdeletion Syndrome	Macrocephaly, Clinodactyly of the 5th finger, Hypospadias, Horseshoe kidney, Pectus carinatum, Ta...	ORPHA:65286
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Larsen-Like Syndrome	Kyphoscoliosis, Macrocephaly, Clinodactyly of the 5th finger, Joint dislocation, Wide anterior fo...	OMIM:608545
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Pseudoaminopterin Syndrome	Limited elbow movement, Clinodactyly of the 5th toe, Pectus excavatum, Overlapping toe, Sacrococc...	ORPHA:221120
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital t...	OMIM:618886
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Ventricu...	OMIM:620210
Osteogenesis Imperfecta, Type X	Osteopenia, Genu valgum, Rhizomelia, Fibular bowing, Tibial bowing, Bowing of the long bones, Mic...	OMIM:613848
Osteopetrosis, Autosomal Recessive 4	Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ...	OMIM:611490
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Arterial tortuosity, Abnormal sternum morphology, Ventricular hy...	OMIM:619656
Basal Cell Nevus Syndrome 1	Kyphoscoliosis, Cardiac rhabdomyoma, Abnormal sternum morphology, Short ribs, Polydactyly, Short ...	OMIM:109400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Lambdoidal craniosynostosis, Macrocephaly, Hydroureter, Paten...	OMIM:615398
Banki Syndrome	Clinodactyly of the 5th finger, Synostosis of carpal bones, Brachydactyly, Abnormal metacarpal mo...	ORPHA:1228
Pseudopseudohypoparathyroidism	Short metatarsal, Short metacarpal, Osteoporosis, Brachydactyly, Cataract, Short neck	OMIM:612463
Autosomal Recessive Robinow Syndrome	Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Hypoplasia ...	ORPHA:1507
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Left Ventricular Noncompaction 1	Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact...	OMIM:604169
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure, Macrocephaly, Reduced bone mineral density, Arteriovenous malformation,...	ORPHA:137608
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly	OMIM:614702
Larsen-Like Syndrome, Lethal Type	Pulmonary insufficiency, Multiple joint dislocation, Abnormal cartilage matrix, Joint dislocation...	OMIM:245650
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Stüve-Wiedemann Syndrome	Osteopenia, Abnormal metaphysis morphology, Genu valgum, Abnormal cortical bone morphology, Elbow...	ORPHA:3206
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis	ORPHA:99931
Moderate Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Hematuria, Intramuscular hematoma, Arthropathy,...	ORPHA:169805
Weaver Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited...	OMIM:277590
Koolen-De Vries Syndrome	Spondylolisthesis, Prominent fingertip pads, Pectus excavatum, Kyphosis, Pulmonic stenosis, Micro...	OMIM:610443
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Ventricular septal def...	ORPHA:500095
Chondrodysplasia Punctata 1, X-Linked Recessive	Abnormality of the vertebral column, Epiphyseal stippling, Cataract, Microcephaly, Short distal p...	OMIM:302950
Lissencephaly Syndrome, Norman-Roberts Type	Atrial septal defect, Patent foramen ovale, Hypoplastic spleen	ORPHA:89844
Genitopatellar Syndrome	Hypoplastic ilia, Hypoplastic ischia, Microcephaly, Radioulnar synostosis, Hip contracture, Short...	ORPHA:85201
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic trans...	ORPHA:42
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Glycogen Storage Disease Iv	Cirrhosis, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopathy, Portal hypertension, Hepatos...	OMIM:232500
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Congestive heart failure, Hepatomegaly, Inguinal hernia, Abnormal he...	OMIM:230500
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Peroxisome Biogenesis Disorder 1A (Zellweger)	Rocker bottom foot, Delayed skeletal maturation, Renal cortical microcysts, Prolonged neonatal ja...	OMIM:214100
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Fibrous Dysplasia Of Bone	Rickets, Abnormal femur morphology, Abnormal tibia morphology, Pathologic fracture, Abnormal bone...	ORPHA:249
Duchenne Muscular Dystrophy	Scoliosis, Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Hajdu-Cheney Syndrome	Partial absence of toe, Pectus carinatum, Decreased skull ossification, Kyphosis, Aortic valve st...	ORPHA:955
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis...	ORPHA:373
1Q21.1 Microdeletion Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Abnormal cardiac septum morphology, Interrupted ...	ORPHA:250989
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi...	ORPHA:755
Venous Malformations, Multiple Cutaneous And Mucosal	Venous malformation, Intestinal bleeding	OMIM:600195
Noonan Syndrome 3	Tricuspid valve prolapse, Pectus carinatum, Patent foramen ovale, Pectus excavatum, Hypertrophic ...	OMIM:609942
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Scoliosis, Vertebral segmentation defect, Syno...	ORPHA:1005
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Ellis-Van Creveld Syndrome	Epispadias, Genu valgum, Hypospadias, Talipes equinovarus, Narrow chest, Hypoplastic iliac wing, ...	OMIM:225500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Cardiospondylocarpofacial Syndrome	Abnormal form of the vertebral bodies, Synostosis of carpal bones, Short palm, Brachydactyly, Mit...	ORPHA:3238
Cerebrooculofacioskeletal Syndrome 2	Rocker bottom foot, Kyphoscoliosis, Microcephaly, Camptodactyly of finger, Developmental cataract...	OMIM:610756
Kapur-Toriello Syndrome	Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Iris coloboma, Single tr...	OMIM:244300
Fetal Cytomegalovirus Syndrome	Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	ORPHA:294
Transaldolase Deficiency	Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Pa...	OMIM:606003
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Platyspondyly, Scoliosis, Elbow flexion contracture, Cataract, Bilateral talipes equi...	OMIM:612394
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormal hip bone morphology, Relative macrocephaly, Tibial bowing, Microcephaly, Broad thumb, Pr...	ORPHA:251028
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Genu valgum, Arteriovenous malformation, Elevated circulating hepati...	ORPHA:394
Recombinant 8 Syndrome	Bilateral single transverse palmar creases, Deep plantar creases, Clinodactyly of the 5th finger,...	ORPHA:96167
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Proximal placement of thumb, Hypospadias, Tracheomalacia, Narrow chest, Wide anterior fontanel, C...	OMIM:217980
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Rocker bottom foot, Flexion contracture of toe, Joint contracture of the 5th finge...	OMIM:602782
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow greater sciatic notch, Congenital diaphragmatic hernia, Enlarged kidney, Short greater sci...	OMIM:312870
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp...	OMIM:115197
Harrod Syndrome	Abnormal shoulder morphology, Hypospadias, Scoliosis, Abnormal pelvic girdle bone morphology, Cat...	ORPHA:2115
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Acro-Renal-Ocular Syndrome	Sandal gap, Short humerus, Hypoplasia of the ulna, Crossed fused renal ectopia, Cataract, Toe syn...	ORPHA:959
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Platyspondyly, Narrow chest, Flared metaphysis, Increased bone mineral density, Metap...	ORPHA:50945
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Loeys-Dietz Syndrome 4	Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Aortic tortuosity, Arachnoda...	OMIM:614816
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Borjeson-Forssman-Lehmann Syndrome	Macrocephaly, Abnormal hip bone morphology, Hypoplasia of penis, Cataract, Camptodactyly of toe, ...	ORPHA:127
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Three M Syndrome 2	Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Relative macrocephaly, Scapular win...	OMIM:612921
Distal Duplication 6P	Sacral dimple, Renal hypoplasia, Short neck, Hydronephrosis, Cataract, Long thorax	ORPHA:1745
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
X-Linked Dominant Chondrodysplasia Punctata	Kyphoscoliosis, Epiphyseal stippling, Microcornea, Anterior rib punctate calcifications, Abnormal...	ORPHA:35173
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Encephalocraniocutaneous Lipomatosis	Osteochondrosis, Tricuspid valve prolapse, Macrocephaly, Craniofacial hyperostosis, Interrupted a...	ORPHA:2396
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Macrocephaly, Abnormal tricuspid valve mor...	ORPHA:90308
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Rhizomelia, Epiphyseal stippling, Scoliosis, Hemivertebrae, Stippled calcificatio...	OMIM:302960
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Ventric...	OMIM:232400
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Platyspondy...	ORPHA:79255
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Retinal degeneration, Abnormal renal physiology	OMIM:266500
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Abnormal cartilage matrix, Epiphyseal stippling, Abnormal bone structure, Short metacarpal, Micro...	ORPHA:86822
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Camurati-Engelmann Disease	Abnormal femur morphology, Hyperlordosis, Kyphosis, Splenomegaly, Craniofacial osteosclerosis, Co...	ORPHA:1328
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Carpal bone hypoplasia, Irregular epiphyses, Platyspondyly, Small epiphyses, Metaphyseal striatio...	OMIM:610442
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Hepatomegaly, Dicarboxylic aciduria, Renal insufficiency, Myog...	ORPHA:228308
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card...	ORPHA:263297
Marfan Syndrome	Kyphoscoliosis, Narrow foot, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arachnodactyl...	OMIM:154700
Restrictive Dermopathy 1	Rocker bottom foot, Atrial septal defect, Kyphoscoliosis, Ureteral duplication, Thin clavicles, H...	OMIM:275210
Osteopetrosis, Autosomal Recessive 7	Femur fracture, Osteopetrosis, Anemia, Decreased circulating IgG level, Abnormal trabecular bone ...	OMIM:612301
Refsum Disease	Pes cavus, Heart block, Abnormal foot morphology, Hammertoe, Cardiomyopathy, Short metacarpal, Ab...	ORPHA:773
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Microcephaly, Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Lathosterolosis	Bilobate gallbladder, 2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Intrahepatic ch...	OMIM:607330
Myhre Syndrome	Radial deviation of finger, Hypoplastic iliac wing, Hypertension, Short long bone, Joint stiffnes...	OMIM:139210
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Occipital Horn Syndrome	Pectus carinatum, Broad clavicles, Limited knee extension, Pectus excavatum, Kyphosis, Persistent...	OMIM:304150
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy...	ORPHA:231222
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Hyperlordosis,...	ORPHA:26791
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Arboleda-Tham Syndrome	Sandal gap, Lower limb amyotrophy, Pectus excavatum, Microcephaly, Pulmonic stenosis, Lower limb ...	OMIM:616268
Congenital Disorder Of Glycosylation, Type Iil	Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:614576
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Zellweger Syndrome	Macrocephaly, Jaundice, Hypospadias, Hepatomegaly, Epiphyseal stippling, Wide anterior fontanel, ...	ORPHA:912
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Attrv122I Amyloidosis	Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Holoprosencephaly	Optic atrophy, Microphthalmia, Hypoplasia of penis, Anophthalmia, Tetralogy of Fallot, Proteinuri...	ORPHA:2162
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Floating-Harbor Syndrome	Kyphoscoliosis, Mesocardia, Dislocated radial head, Short metacarpal, Delayed skeletal maturation...	ORPHA:2044
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Koolen-De Vries Syndrome	Bicuspid aortic valve, Ureteral duplication, Hypospadias, Scoliosis, Vesicoureteral reflux, Verte...	ORPHA:96169
Indomethacin Embryofetopathy	Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal defect, Ventricular septal defect...	ORPHA:1909
Myhre Syndrome	Abnormal metaphysis morphology, Epispadias, Platyspondyly, Hypospadias, Craniofacial hyperostosis...	ORPHA:2588
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Multiple...	OMIM:616866
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Loeys-Dietz Syndrome 3	Arterial tortuosity, Spondylolisthesis, Abnormal sternum morphology, Pectus carinatum, Ventricula...	OMIM:613795
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Scoliosis, Cardiomyopathy, Areflexia of lower limbs, Limb m...	ORPHA:329336
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina...	OMIM:277000
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing, Torticollis, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Absent Achille...	OMIM:128100
Yunis-Varon Syndrome	Rocker bottom foot, Absent sternal ossification, Abnormal finger morphology, Hypertension, Cardio...	ORPHA:3472
Oculodentodigital Dysplasia	Abnormal form of the vertebral bodies, Clinodactyly, Abnormal clavicle morphology, Cranial hypero...	ORPHA:2710
Huntington Disease-Like 1	Abnormal posturing, Abnormal shoulder morphology	ORPHA:157941
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Alpha-Mannosidosis, Infantile Form	Pectus carinatum, Corneal opacity, Pectus excavatum, Joint stiffness, Joint hypermobility, Cranio...	ORPHA:309282
Mucopolysaccharidosis Type 2, Severe Form	Hypertension, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Abnormal mitr...	ORPHA:217085
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Microphthalmia/Coloboma 12	Microphthalmia, Vesicoureteral reflux, Remnants of the hyaloid vascular system, Optic nerve aplas...	OMIM:120200
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, ...	OMIM:614921
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of t...	OMIM:266920
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ventricul...	OMIM:206900
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Nephrotic ...	OMIM:617713
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Moyamoya phenomenon, Broad finger, Abnormal left ventricle morphology, Premature coronary artery ...	OMIM:300845
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Osteopetrosis, Macrocephaly, Clinodactyly of the 5th finger, Incre...	OMIM:617306
Fryns-Smeets-Thiry Syndrome	Scoliosis, Microcephaly, Arachnodactyly, Patellar aplasia, Joint hypermobility, Hip dislocation	ORPHA:2058
Arthrogryposis, Distal, Type 5D	Hypermobility of distal interphalangeal joints, Limited elbow movement, Adducted thumb, Scoliosis...	OMIM:615065
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Joint stiffness, Thin bony cortex, Limb undergrowth, Splenomegaly, Coxa v...	OMIM:230600
Mucopolysaccharidosis Type 2, Attenuated Form	Hypertension, Cardiomyopathy, Corneal opacity, Dermatan sulfate excretion in urine, Abnormal mitr...	ORPHA:217093
Ellis Van Creveld Syndrome	Delayed skeletal maturation, Short distal phalanx of finger, Hypospadias, Short thorax, Micromeli...	ORPHA:289
Apert Syndrome	Limited elbow movement, Pectus carinatum, Broad thumb, Syndactyly, Craniosynostosis, Postaxial ha...	OMIM:101200
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Platyspondyly, Narrow chest, Short metacarpal, Rhizomelic arm shortening, Abnormal r...	ORPHA:93317
Spastic Paraplegia 9A, Autosomal Dominant	Pes cavus, Carpal bone hypoplasia, Urinary incontinence, Abnormal pelvic girdle bone morphology, ...	OMIM:601162
Acrootoocular Syndrome	Kyphoscoliosis, Short finger, Sandal gap, Abnormality of facial musculature, Short metacarpal, Pe...	ORPHA:2980
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cirrhosis, Arteriovenous malformation, Abnormal metacarpal morpholog...	ORPHA:974
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Cerebellofaciodental Syndrome	Genu valgum, Clinodactyly of the 5th finger, Slender long bone, Single transverse palmar crease, ...	OMIM:616202
Ogden Syndrome	Left atrial enlargement, Bicuspid aortic valve, Enlarged kidney, Jaundice, Macrovesicular hepatic...	OMIM:300855
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Infantile Refsum Disease	Hepatomegaly, Facial palsy, Cardiomyopathy, Abnormal epiphysis morphology, Arrhythmia, Cataract	ORPHA:772
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Hypertension, Ventricular hypertrophy, Nephrocalcinosis, Pancreatic c...	ORPHA:51608
Gorlin Syndrome	Macrocephaly, Abnormal vertebral morphology, Palmar pits, Vertebral wedging, Scoliosis, Hemiverte...	ORPHA:377
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Pseudohypoparathyroidism, Type Ia	Short finger, Low urinary cyclic AMP response to PTH administration, Short metatarsal, Short meta...	OMIM:103580
9Q33.3Q34.11 Microdeletion Syndrome	Astigmatism, Fixed elbow flexion, Patellar hypoplasia, Single transverse palmar crease, Bilateral...	ORPHA:495818
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal testis morphology, Vaginal neoplasm, Abnormality ...	ORPHA:1916
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Baller-Gerold Syndrome	Limited elbow movement, Anomalous splenoportal venous system, Carpal bone aplasia, Oligodactyly, ...	OMIM:218600
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Tracheomalacia, Absent sternal ossification, Slender lo...	OMIM:613803
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Hsd10 Disease, Infantile Type	Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Retinal degeneration, Abnormal concentr...	ORPHA:391428
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Mucopolysaccharidosis Type 3	Reduced bone mineral density, Abnormal form of the vertebral bodies, Corneal opacity, Joint stiff...	ORPHA:581
Cirrhotic Cardiomyopathy	Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le...	ORPHA:57777
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Spondylolysis, Muscle hem...	ORPHA:464321
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Peroxisome Biogenesis Disorder 5A (Zellweger)	Cholestasis, Persistent open anterior fontanelle, Renal cortical microcysts, Splenomegaly, Heart ...	OMIM:614866
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Ivic Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Scoliosis, Synostosis of carpal bones, Joint stiff...	ORPHA:2307
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Distal Deletion 9P	Short neck, Enlarged thorax, Hypospadias, Brachydactyly	ORPHA:1642
Autosomal Recessive Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Cardiomyopathy, Scapular winging, Facial palsy, Hand muscle weakness, M...	ORPHA:254886
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Noonan Syndrome 10	Cubitus valgus, Patent ductus arteriosus, Palmoplantar cutis laxa, Pectus carinatum, Scoliosis, R...	OMIM:616564
Noonan Syndrome 1	Kyphoscoliosis, Radial deviation of finger, Cubitus valgus, Hypospadias, Pectus excavatum of infe...	OMIM:163950
Hemochromatosis, Type 3	Arthritis, Cirrhosis, Cardiomyopathy, Elevated circulating hepatic transaminase concentration	OMIM:604250
Scimitar Syndrome	Mitral atresia, Left-to-right shunt, Hypoplasia of the diaphragm, Abnormal heart morphology, Inte...	ORPHA:185
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Increased variabilit...	OMIM:613752
Congenital Sialidosis Type 2	Polydactyly, Macrocephaly, Hepatomegaly, Inguinal hernia, Corneal opacity, Abnormal heart morphol...	ORPHA:93400
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Cardiomyopathy, C...	OMIM:619259
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Lenz-Majewski Hyperostotic Dwarfism	Abnormal metaphysis morphology, Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morph...	ORPHA:2658
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Inguinal hernia, Slender long bone, Limb hypertonia, Ascending tubular ao...	ORPHA:444072
Systemic-Onset Juvenile Idiopathic Arthritis	Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Alagille Syndrome 1	Elevated circulating hepatic transaminase concentration, Cholestasis, Prolonged neonatal jaundice...	OMIM:118450
Aymé-Gripp Syndrome	Rocker bottom foot, Congenital diaphragmatic hernia, Pericarditis, Craniosynostosis, Reduced arm ...	ORPHA:1272
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Bifid scrotu...	ORPHA:90797
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Parkes Weber Syndrome	Arteriovenous malformation, Arteriovenous fistula, Abnormality of the upper limb, Bounding pulse,...	ORPHA:90307
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Abnormality iris morphology, Calf muscle pseudohypertrophy, Hypoglycosylation...	ORPHA:370959
Pfeiffer Syndrome	Clinodactyly of the 5th finger, Finger syndactyly, Hyperlordosis, Synostosis of carpal bones, Bro...	ORPHA:710
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Bone cyst, Narrow iliac wing, Scoliosis, Cal...	ORPHA:3042
Mucopolysaccharidosis Type 2	Hypertension, Cardiomyopathy, Corneal opacity, Abnormal epiphyseal ossification, Abnormal mitral ...	ORPHA:580
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow...	ORPHA:549
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Metaphyseal cupping ...	ORPHA:163966
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Short long bone, Bowing of the long bones, Anisospondyly, Micromelia, Microcephaly, Ne...	OMIM:224410
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite...	ORPHA:36412
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Microcephaly, Broad thumb, Urethral valve, Aplasia/Hypoplasia of the...	OMIM:107480
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Bradycardia...	ORPHA:40366
Muscular Dystrophy, Cardiac Type	Carnosinuria, Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Rothmund-Thomson Syndrome Type 2	Aplasia/hypoplasia involving bones of the upper limbs, Short metacarpal, Delayed skeletal maturat...	ORPHA:221016
Multiple Sulfatase Deficiency	Macrocephaly, Hepatomegaly, Corneal opacity, Joint stiffness, Microcephaly, Broad thumb, Mucopoly...	ORPHA:585
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Retinal dysplasia, Anophthalmi...	ORPHA:2556
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Broad foot, Patellar ap...	OMIM:135750
Familial Osteodysplasia, Anderson Type	Aplasia/hypoplasia of the femur, Abnormal cortical bone morphology, Clinodactyly of the 5th finge...	ORPHA:2769
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Nephrocalcinosis, Right atrial enlargement	OMIM:614473
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Müllerian Aplasia And Hyperandrogenism	Shield chest, Short neck, Cubitus valgus, Brachydactyly	ORPHA:247768
Restrictive Dermopathy	Osteopenia, Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hypospadias,...	ORPHA:1662
Fucosidosis	Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly	ORPHA:349
Enlarged Parietal Foramina	Venous malformation, Short clavicles, Broad thumb, Abnormal cerebral vein morphology, Craniosynos...	ORPHA:60015
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Secondary microcephaly, Bicuspid aortic valve, Astigmatism, Unilateral renal agenesis, Inguinal h...	OMIM:620654
Rothmund-Thomson Syndrome Type 1	Finger symphalangism, Osteopenia, Abnormal ulnar metaphysis morphology, Calcinosis, Patellar hypo...	ORPHA:221008
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Abnormality o...	ORPHA:2526
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus excavatum, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Pectus carinatum, Prominent fingertip pads, Cardiomyopathy, Pectus excavatum, ...	ORPHA:363958
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Pes cavus, Equinovarus deformity, Cardiomyopathy, Cholestasis, Tricuspi...	ORPHA:746
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Williams Syndrome	Abnormal carotid artery morphology, Kyphosis, Hypoplasia of penis, Abnormal form of the vertebral...	ORPHA:904
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Pes cavus, Astigmatism, Sacral dimple, Patent ductus arteriosus, Scoliosis, Short foot, Cataract,...	OMIM:300968
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormally large globe, Abnormal renal morphology, Pancreatic lymphangiectasis, Asc...	ORPHA:1655
Proteus-Like Syndrome	Macrocephaly, Venous insufficiency, Hyperostosis, Genu recurvatum, Heterochromia iridis, Lower li...	ORPHA:2969
Vertical Talus, Congenital	Rocker bottom foot, Arthritis, Equinus calcaneus, Calcaneovalgus deformity	OMIM:192950
Sandhoff Disease	Hepatomegaly, Urinary incontinence, Increased urinary N-acetylglucosamine-rich oligosaccharide le...	OMIM:268800
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:231736
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus	OMIM:612964
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom...	ORPHA:324410
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Vici Syndrome	Abnormal posturing, Congestive heart failure, Cardiomyopathy, Microcephaly, Developmental catarac...	OMIM:242840
Fabry Disease	Reduced bone mineral density, Abnormal femur morphology, Hypertension, Corneal opacity, Left vent...	ORPHA:324
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Retinal detachment, Remnants of the hyal...	OMIM:300166
Meier-Gorlin Syndrome 5	Slender long bone, Prominent metopic ridge, Microcephaly, Delayed skeletal maturation, Hypoplasia...	OMIM:613805
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Aplastic anemia, Reduced bone mineral density, Neutropenia, A...	ORPHA:2909
Mirage Syndrome	Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Microphallus, Hyp...	OMIM:617053
Monosomy 9Q22.3	Polydactyly, Rhabdomyosarcoma, Macrocephaly, Palmar pits, Abnormality of the vertebral column, Pe...	ORPHA:77301
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Macrocephaly, Wide anterior fontanel, Hypoplasia of the iris, Om...	OMIM:222448
Traboulsi Syndrome	Short finger, Cubitus valgus, Spherophakia, Homocystinuria, Phakodonesis, Iris atrophy, Pectus ex...	OMIM:601552
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal...	ORPHA:508
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Pes cavus, Ragged-red muscle fibers, Scoliosis, Cardiomyopathy, EMG: myopathic abnormalities, Mus...	OMIM:258450
Chops Syndrome	Cervical C2/C3 vertebral fusion, Tracheomalacia, Patent foramen ovale, Vesicoureteral reflux, Ano...	OMIM:616368
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Venous insufficiency, Deviation of finger, Abnorm...	ORPHA:903
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Propionic Acidemia	Cerebellar hemorrhage, Increased level of hippuric acid in urine, Pancreatitis, Hepatomegaly, Lim...	OMIM:606054
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Fanconi Anemia	Abnormal carotid artery morphology, Reduced bone mineral density, Abnormal femur morphology, Arte...	ORPHA:84
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Wolfram Syndrome 1	Hydroureter, Neurogenic bladder, Cardiomyopathy, Stroke-like episode, Hydronephrosis, Cataract, L...	OMIM:222300
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal...	OMIM:619003
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Relapsing Polychondritis	Myocarditis, Abnormal endocardium morphology, Large vessel vasculitis, Abnormal aortic valve morp...	ORPHA:728
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Fraser Syndrome 1	Bilateral microphthalmos, Renal hypoplasia/aplasia, Hypospadias, Anophthalmia, Renal hypoplasia, ...	OMIM:219000
Vacterl With Hydrocephalus	Renal agenesis, Microphthalmia, Renal hypoplasia/aplasia, Anophthalmia	ORPHA:3412
Lymphedema-Hypoparathyroidism Syndrome	Renal insufficiency, Increased carrying angle, Brachydactyly, Mitral valve prolapse, Cataract, Pu...	OMIM:247410
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
1P36 Deletion Syndrome	Hypoplasia of penis, Kyphosis, Joint stiffness, Microcephaly, Hepatic steatosis, Myopathy, Abnorm...	ORPHA:1606
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Increased susceptibility to fractures	ORPHA:216866
Jacobsen Syndrome	Abnormal form of the vertebral bodies, Aortic valve stenosis, Hip dislocation, Inguinal hernia, S...	ORPHA:2308
Meier-Gorlin Syndrome 4	Lateral clavicle hook, Slender long bone, Genu recurvatum, Microcephaly, Delayed skeletal maturat...	OMIM:613804
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Proboscis Lateralis	Microphthalmia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Ureteral agenesi...	ORPHA:141099
Charge Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia, Dysplastic tricuspid valve, Unilateral microp...	OMIM:214800
Leopard Syndrome 1	Kyphoscoliosis, Limited elbow movement, Macrocephaly, Cubitus valgus, Hypospadias, Unilateral ren...	OMIM:151100
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Aplasia of the uterus, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Macrodactyly, Cranial hyperostosis, Venous malformation, Sandal gap, Scoliosis, Lower limb asymme...	OMIM:612918
Cockayne Syndrome Type 3	Elevated circulating hepatic transaminase concentration, Progressive microcephaly, Cardiomyopathy...	ORPHA:90324
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Aniridia, Anophthalmia	ORPHA:1101
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology...	OMIM:615873
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Delayed ossification of carpal bones, Abnormal heart morphology, Short toe, Short distal phalanx ...	OMIM:239300
Meier-Gorlin Syndrome 2	Tracheomalacia, Slender long bone, Camptodactyly, Microcephaly, Delayed skeletal maturation, Pate...	OMIM:613800
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Developmental glaucoma, Inguinal hernia, Elbow flexion contracture, Osteoporosis, Fle...	OMIM:614438
Mcleod Syndrome	Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno...	OMIM:300842
14Q22Q23 Microdeletion Syndrome	Renal hypoplasia, Optic nerve aplasia, Anophthalmia	ORPHA:264200
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricular sep...	OMIM:249270
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert...	OMIM:180849
Zimmermann-Laband Syndrome 1	Macrocephaly, Hepatomegaly, Spina bifida occulta, Long penis, Aortic root aneurysm, Hyperextensib...	OMIM:135500
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic trans...	ORPHA:781
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Sutural cataract, Scoliosis, Cardiomyopathy, Ethylmalonic aciduria, Flexion contracture, Weakness...	OMIM:201470
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Abnormal cortical bone morphology	OMIM:614886
Mogs-Cdg	Optic atrophy, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, ...	ORPHA:79330
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia...	ORPHA:84064
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Glomerular sclerosis, Retinal neovascularization, Weakness of facial...	ORPHA:247691
Ear-Patella-Short Stature Syndrome	Epispadias, Clinodactyly of the 5th finger, Hypospadias, Slender long bone, Hypoplasia of penis, ...	ORPHA:2554
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Proximal placement of thumb, Hyp...	ORPHA:818
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Wide anterior fontanel, Short long bone, Bowing of the long bones,...	OMIM:249420
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal cardiac ventricul...	ORPHA:2394
Gracile Bone Dysplasia	Hypoplastic spleen, Micropenis, Asplenia	OMIM:602361
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Mayer-Rokitansky-Küster-Hauser Syndrome	Endometriosis, Aplasia of the uterus, Ectopic ovary, Pulmonic stenosis, Hypoplasia of the vagina,...	ORPHA:3109
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Silver-Russell Syndrome	Secondary microcephaly, Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Abnormal appendi...	ORPHA:813
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Proximal tubul...	OMIM:212065
Cohen-Gibson Syndrome	Osteopenia, Long foot, Macrocephaly, Flared metaphysis, Hypoplastic iliac wing, Scoliosis, Campto...	OMIM:617561
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Luscan-Lumish Syndrome	Advanced ossification of carpal bones, Macrocephaly, Long foot	OMIM:616831
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy...	OMIM:618278
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Calcinosis, Hypertension, Renal artery stenosis, Congenital hip dislocation, Microcep...	OMIM:617913
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid vascu...	OMIM:609049
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Peters-Plus Syndrome	Bilobate gallbladder, Limited elbow movement, Square pelvis bone, Ureteral duplication, Proximal ...	OMIM:261540
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
Trichothiodystrophy	Osteopenia, Astigmatism, Joint dislocation, Increased bone mineral density, Microcornea, Clubbing...	ORPHA:33364
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Patent ductus arteriosus, 11 pairs of ri...	OMIM:620005
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Propionic Acidemia	Organic aciduria, Hepatomegaly, Cardiomyopathy, Arrhythmia	ORPHA:35
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Oculodentodigital Dysplasia	Vertebral hyperostosis, Cubitus valgus, Joint contracture of the 5th finger, Microcornea, 4-5 fin...	OMIM:164200
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, 4-5 finger syndactyly, Cardiomyopathy, Hypovolemic shock, Camptod...	ORPHA:158687
Lathosterolosis	Intrahepatic cholestasis, Hepatomegaly, Talipes, Hypoplasia of penis, Microcornea, Postaxial hand...	ORPHA:46059
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Abnormal cardiovascular system physiology, Unicameral bone cyst, Calf mu...	ORPHA:79086
Stickler Syndrome	Reduced bone mineral density, Spondylolisthesis, Abnormal form of the vertebral bodies, Pectus ca...	ORPHA:828
Charge Syndrome	Optic atrophy, Microphthalmia, Abnormal aortic valve morphology, Anophthalmia, Vesicoureteral ref...	ORPHA:138
Tetraamelia-Multiple Malformations Syndrome	Microcornea, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the pelvis, Abnormal rib...	ORPHA:3301
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Fanconi Anemia, Complementation Group U	Hypoplasia of the radius, Unilateral facial palsy, Absent scaphoid, Ectopic kidney, Microcephaly,...	OMIM:617247
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Myopathy, Inguinal hernia, Pectus carinatum, Single transverse palmar crease, Pulmo...	OMIM:612541
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Congestive heart failure, Inguinal hernia, Ascending tubular aorta aneurysm, Righ...	OMIM:617403
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Myoglobinuria, Red-brown u...	ORPHA:228305
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia, Hypoplasia of penis	ORPHA:2250
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, Limb muscle ...	OMIM:609286
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system	OMIM:165550
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Talipes equinovarus, Hyperextensibility of the finger joints, Osteoporosis, Long fingers, Long ha...	OMIM:309583
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Joint hypermobility, Overlapping toe, Astigmatism, Sacral dimple, Cyst of the duc...	ORPHA:480880
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Yunis-Varon Syndrome	Bilateral single transverse palmar creases, Absent sternal ossification, Cardiomyopathy, Decrease...	OMIM:216340
Osteogenesis Imperfecta	Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Dislocated...	ORPHA:666
Faciocardiomelic Syndrome	Osteopenia, Polydactyly, Slender long bone, Hypoplastic pelvis, Thin bony cortex	OMIM:612731
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system	OMIM:257910
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Pulmonic stenosis, Abnormal heart morphology, Mi...	ORPHA:363700
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:308552
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bra...	OMIM:212138
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Arachnodactyly, Epistaxis, Mitral valve prolapse, Aplasia/Hypoplasia of the ...	ORPHA:285
Proteus Syndrome	Enlarged kidney, Long penis, Retinal nonattachment, Neoplasm of the thymus, Renal cyst, Enlarged ...	ORPHA:744
Familial Multiple Nevi Flammei	Arteriovenous malformation, Venous insufficiency, Abnormality of the upper limb, Abnormality of t...	ORPHA:624
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal upper limb mus...	ORPHA:363623
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Nuclear pulverulent cataract, Sutural cataract, Prominent fingertip pads, Pectus excavatum, Micro...	OMIM:612474
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Vici Syndrome	Renal tubular acidosis, Cardiomyopathy, Joint stiffness, Ureteral atresia, Cataract	ORPHA:1493
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Stillbirth, Hepatomegaly, Renal tubular acidosis, Cardiomyopathy, Renal...	OMIM:614922
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Legius Syndrome	Polydactyly, Macrocephaly, Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoliosis...	ORPHA:137605
Toriello-Carey Syndrome	Narrow chest, Wide anterior fontanel, Cardiomyopathy, Microcephaly, Pulmonic stenosis, Coarctatio...	ORPHA:3338
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Histiocytoid Cardiomyopathy	Optic atrophy, Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly, Ventri...	ORPHA:137675
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Proximal placement of thumb, Hypertension, Microcephaly, Splenomegaly,...	OMIM:270400
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte...	ORPHA:567
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Mandibuloacral Dysplasia With Type A Lipodystrophy	Wormian bones, Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobili...	ORPHA:90153
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia, Renal insufficiency	ORPHA:3222
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Palmopl...	ORPHA:34217
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Urinary incontinence, Splenomegaly	OMIM:232300
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Persistent Hyperplastic Primary Vitreous	Microphthalmia, Remnants of the hyaloid vascular system, Tractional retinal detachment, Hyaloid v...	ORPHA:91495
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk...	OMIM:620376
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, C...	OMIM:620089
Transketolase Deficiency	Hepatomegaly, Patent ductus arteriosus, Increased level of ribose in urine, Patent foramen ovale,...	ORPHA:488618
Liver Disease, Severe Congenital	Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ...	OMIM:619991
Tukel Syndrome	Carpal bone aplasia, Carpal synostosis, Syndactyly, Congenital fibrosis of extraocular muscles, P...	OMIM:609428
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc...	ORPHA:77261
Craniotubular Dysplasia, Ikegawa Type	Diaphyseal dysplasia, Broad ischia, Broad femoral neck, Short palm, Metaphyseal dysplasia, Sclero...	OMIM:619727
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
X-Linked Intellectual Disability, Armfield Type	Limited elbow extension, Macrocephaly, Aminoaciduria, Inguinal hernia, Galactosuria, Abnormality ...	ORPHA:85276
Primary Hyperoxaluria	Heart block, Hematuria, Aciduria, Elevated circulating hepatic transaminase concentration, Calciu...	ORPHA:416
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, L...	OMIM:105120
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Roberts-Sc Phocomelia Syndrome	Radial deviation of finger, Corneal opacity, Wrist flexion contracture, Microcephaly, Biliary tra...	OMIM:268300
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia...	OMIM:278850
Sandifer Syndrome	Hematemesis, Abnormal posturing, Torticollis, Hiatus hernia, Decreased cervical spine mobility	ORPHA:71272
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Coronary artery atherosclerosis, Angina pectoris, Low-output congesti...	ORPHA:565612
Developmental And Epileptic Encephalopathy 75	Secondary microcephaly, Prolonged neonatal jaundice, Cardiomyopathy, Decreased liver function	OMIM:618437
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma...	ORPHA:699
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber dia...	ORPHA:119
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Renal insuf...	ORPHA:445038
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Cyclic Vomiting Syndrome	Microcephaly, Cardiomyopathy	OMIM:500007
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Microcephaly, Abnormal heart morphology, Fibular hypoplasia, Hyp...	ORPHA:444077
Chondrodysplasia Punctata, Autosomal Dominant	Epiphyseal stippling, Scoliosis, Hip contracture, Knee flexion contracture, Cataract, Talipes equ...	OMIM:118650
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Broad distal phalanx of finger, Pulmonic stenosis, Delayed skeletal maturation, Aortic valve sten...	ORPHA:353281
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Broad distal phalanx of finger, Clinodactyly of the 5th finger, Talipes, Hypercalciuria, Patent f...	OMIM:300990
Autosomal Dominant Optic Atrophy Plus Syndrome	Pes cavus, Cardiomyopathy, Limb-girdle muscle weakness, Absent Achilles reflex, Myopathy	ORPHA:1215
Renpenning Syndrome 1	Situs inversus totalis, Atrial septal defect, Narrow foot, Clinodactyly of the 5th finger, Hyposp...	OMIM:309500
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Genitopatellar Syndrome	Multicystic kidney dysplasia, Scoliosis, Inferior pubic ramus hypoplasia, Hypoplastic ischia, Mic...	OMIM:606170
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusi...	ORPHA:363705
Townes-Brocks Syndrome	Ectopic kidney, Hypoplasia of penis, Absent toe, Broad thumb, Urethral valve, Multiple renal cyst...	ORPHA:857
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat...	OMIM:187300
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
D-2-Hydroxyglutaric Aciduria 1	Glutaric aciduria, Macrocephaly, Aortic regurgitation, Cardiomyopathy, D-2-hydroxyglutaric aciduria	OMIM:600721
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, EMG: myopa...	ORPHA:98907
Neu-Laxova Syndrome 1	Rocker bottom foot, Radial deviation of finger, Primary microcephaly, Clinodactyly, Transposition...	OMIM:256520
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Muscular dystrophy, Reduced left ventricular ejection fraction, Myositis, Scoliosis, Hyperlordosi...	ORPHA:258
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Sotos Syndrome	Ureteral duplication, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Prolonged neon...	ORPHA:821
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Urinary incontinence, Titubation, Hypomimic face	ORPHA:225147
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Car...	ORPHA:159
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hypospadias, Peters anomaly, Histiocytoid cardiomyopathy, Single...	OMIM:309801
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Angina pectoris, Arthritis, Vasculitis, Myositis, Cardio...	ORPHA:93672
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Urinary incontinence, Cardiomyopathy	OMIM:105210
Atelis Syndrome 2	Microphthalmia, Anemia, Supravalvar pulmonary stenosis, Remnants of the hyaloid vascular system, ...	OMIM:620185
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Bilateral single transverse palmar creases, Proximal placement o...	ORPHA:199
Clapo Syndrome	Macrodactyly, Hemihypertrophy of lower limb, Venous malformation, Narrow chest, Pectus excavatum,...	ORPHA:168984
Unilateral Polymicrogyria	Abnormal posturing, Stroke, Microcephaly, Abnormal heart morphology, Epistaxis, Pulmonary arterio...	ORPHA:268943
Peroxisome Biogenesis Disorder 9B	Cataract, Pes cavus, Cardiomyopathy	OMIM:614879
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Focal Dermal Hypoplasia	Optic atrophy, Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Hydronephrosis, Bifi...	OMIM:305600
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria	OMIM:239200
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Microcephaly, Delayed skeletal maturation, Bicuspid aortic valve, Short 5th finge...	OMIM:607872
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Aortic aneurysm, Stroke, Clubbing, Aortic dissection, Epistax...	OMIM:175050
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis	OMIM:208000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Generalized amyotrophy, Cardiomyopathy, Skeletal muscle atrophy, Limb hypertonia	OMIM:617710
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal metaphysis morphology, Absent or minimally ossified vertebral bodies, Macrocephaly, Narr...	ORPHA:93271
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Aplasia of the uterus, Uterus didelphys, Abnormal heart morphology, Vaginal atresia, Septate vagina	ORPHA:2237
Abetalipoproteinemia	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul...	ORPHA:14
Gjc2-Related Late-Onset Primary Lymphedema	Ankle swelling, Hypoplasia of lymphatic vessels, Venous insufficiency, Abnormal lymphatic vessel ...	ORPHA:568051
Hec Syndrome	Cardiomyopathy, Developmental cataract, Arrhythmia, Abnormal pupil morphology, Endocardial fibroe...	ORPHA:2119
Blau Syndrome	Iritis, Flexion contracture of toe, Arthritis, Band keratopathy, Hypertension, Tendonitis, Synovi...	OMIM:186580
S-Adenosylhomocysteine Hydrolase Deficiency	Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Hepatocellular carci...	ORPHA:88618
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Long foot, Cyst...	OMIM:608594
Lumbar Syndrome	Hypospadias, Bifid scrotum, Bifid uterus, Ambiguous genitalia, Cryptorchidism, Micropenis, Hypopl...	ORPHA:83628
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology	ORPHA:3320
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla...	ORPHA:1677
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Progressive microcephaly, ...	OMIM:225750
Neurocardiofaciodigital Syndrome	Polydactyly, Double inlet left ventricle, Vesicoureteral reflux, Microcephaly, Tetralogy of Fallo...	OMIM:619869
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Cardiomyopathy, Renal insufficiency	ORPHA:27
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Retinal co...	OMIM:113620
Bardet-Biedl Syndrome	Elevated circulating hepatic transaminase concentration, Hypoplasia of penis, Hypertension, Cardi...	ORPHA:110
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Mitral valve prolapse, Left ...	OMIM:245600
Reactive Arthritis	Aortic regurgitation, Arthritis, Joint stiffness, Pericarditis, Enthesitis, Conjunctivitis, Joint...	ORPHA:29207
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Neutral Lipid Storage Myopathy	Congestive heart failure, Generalized limb muscle atrophy, Hepatomegaly, Elevated circulating hep...	ORPHA:98908
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card...	OMIM:610717
Peters Plus Syndrome	Ureteral duplication, Corneal opacity, Microcephaly, Pulmonic stenosis, Anterior chamber synechia...	ORPHA:709
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Bohring-Opitz Syndrome	Optic atrophy, Annular pancreas, Cholelithiasis, Retinal atrophy, Cardiomegaly, Urinary retention...	ORPHA:97297
Foix-Alajouanine Syndrome	Distal lower limb muscle weakness, Urinary incontinence, Venous malformation, Arteriovenous fistu...	ORPHA:79093
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Ehlers-Danlos Syndrome, Vascular Type	Hypermobility of distal interphalangeal joints, Pectus excavatum, Descending aortic dissection, M...	OMIM:130050
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
Agel Amyloidosis	Corneal ulceration, Cardiomyopathy, Facial palsy, Abnormal spleen morphology, Lattice corneal dys...	ORPHA:85448
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Micropenis, Anophthalmia	OMIM:610829
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Atrial Standstill 2	Vascular dilatation, Bradycardia, Stroke, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ve...	OMIM:615745
Phace Syndrome	Abnormal carotid artery morphology, Iris coloboma, Aortic root aneurysm, Abnormal sternum morphol...	ORPHA:42775
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial...	ORPHA:96191
Meier-Gorlin Syndrome 6	Sandal gap, Tracheobronchomalacia, Microcephaly, Delayed skeletal maturation, Short middle phalan...	OMIM:616835
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy...	OMIM:614643
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Livedoid Vasculopathy	Ischemic stroke, Abnormal capillary morphology, Abnormal foot morphology, Venous insufficiency, E...	ORPHA:542643
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card...	OMIM:115250
Neuroocular Syndrome	Stellate iris, Prominent fingertip pads, Pectus excavatum, Microcephaly, Sacral dimple, Deep palm...	OMIM:619539
Autosomal Dominant Optic Atrophy And Cataract	Limited elbow extension, Abnormal thumb morphology, Posterior subcapsular cataract, Pes cavus, Po...	ORPHA:67036
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Fraser Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anophthalmia, Urethra...	ORPHA:2052
Kearns-Sayre Syndrome	Renal tubular acidosis, Ragged-red muscle fibers, Cardiomyopathy, Microcephaly, Arrhythmia, Third...	OMIM:530000
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Milroy Disease	Ankle swelling, Varicose veins, Abnormal venous morphology, Pedal edema	ORPHA:79452
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Partial atrioventricular canal defect, Secundum atrial septal defect, Card...	OMIM:620066
Von Hippel-Lindau Disease	Limb pain, Myocarditis, Distal lower limb muscle weakness, Elevated urinary catecholamine level, ...	ORPHA:892
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Arteriovenous malformation, Nasal mucosa tela...	ORPHA:774
Blau Syndrome	Large vessel vasculitis, Polyarticular arthritis, Aortic aneurysm, Hypertension, Limitation of jo...	ORPHA:90340
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Stage 5 chronic kidney disease...	OMIM:251000
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C...	ORPHA:75565
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:168558
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Splenic cyst, Retinal detachment, Patent foramen ovale, Retinal hemorrhage, Hepatic...	OMIM:620371
Melas	Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:550
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency	ORPHA:745
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral...	ORPHA:289548
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Cardiomyopathy, Chronic kidney disease, Renal tubular acidosis	ORPHA:324525
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Pectus carinatum, Iris atrophy, Pectus excavatum, Hyphema, Delayed skeletal...	ORPHA:261552
Kaposi Sarcoma	Abnormality of the liver, Abnormality of the lower limb, Abnormality of the spleen, Venous insuff...	ORPHA:33276
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Friedreich Ataxia	Pes cavus, Abnormal foot morphology, Scoliosis, Cardiomyopathy, Areflexia of lower limbs, Urinary...	ORPHA:95
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Delayed skeletal mat...	ORPHA:261537
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ventricular sep...	OMIM:269700
Meckel Syndrome 14	Ambiguous genitalia, Hepatic fibrosis, Aplasia of the uterus, Single ventricle	OMIM:619879
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Jaundice, Cardiomyopathy, Acute hepatic ...	OMIM:616483
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency	ORPHA:743
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Microphthalmia, Remnants of the hyaloid vascular system	ORPHA:2714
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Retinal nonattachment, Remnants of the hyaloid vascular system	OMIM:221900
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Kyphoscoliosis, Relative macrocephaly, Aortic valve stenosis, Ed...	OMIM:601803
Vascular Ehlers-Danlos Syndrome	Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Arteriovenous...	ORPHA:286
Polyarteritis Nodosa	Pericarditis, Hypertension, Cardiomyopathy, Raynaud phenomenon	ORPHA:767
Rabson-Mendenhall Syndrome	Polydactyly, Long penis, Cardiomyopathy, Delayed skeletal maturation, Nephrocalcinosis, Atrial se...	ORPHA:769
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Aplasia of the vagina	OMIM:146255
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi...	OMIM:164210
Postinfectious Vasculitis	Ischemic stroke, Hematuria, Vascular dilatation, Arthritis, Bacterial endocarditis, Hypertension,...	ORPHA:48435
Microphthalmia, Syndromic 1	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasi...	OMIM:309800
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Osteopenia, Reduced bone mineral density, Anemia, Pancytopenia, Joint hypermobility, Thi...	OMIM:613658
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Hypotension, Cholestasis, Pericardial effusion, Hepatitis, Hepatic f...	ORPHA:292
Aspartylglucosaminuria	Abnormal cortical bone morphology, Arthritis, Joint stiffness, Abnormal morphology of ulna, Splen...	ORPHA:93
Townes-Brocks Syndrome 2	Bifid uterus, Hypospadias, Rectovaginal fistula	OMIM:617466
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi...	OMIM:619534
Microphthalmia, Syndromic 6	Renal hypoplasia, Microphthalmia, Anophthalmia	OMIM:607932
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Reduced bone miner...	ORPHA:47159
Wolfram Syndrome	Gastrointestinal hemorrhage, Dysuria, Cardiomyopathy, Joint stiffness, Abnormal mesentery morphol...	ORPHA:3463
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo...	ORPHA:365
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Neonatal death, Cardiomyopathy	OMIM:618839
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy, Left ventricular hypertrophy	OMIM:102200
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricular noncompaction c...	OMIM:300967
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Macrodactyly, Varicose veins, Venous malformation	OMIM:613089
Oeis Complex	Epispadias, Ambiguous genitalia, male, Rectovaginal fistula, Vesicovaginal fistula, Labial hypopl...	OMIM:258040
Glomuvenous Malformation	Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation, Abn...	ORPHA:83454
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocy...	OMIM:256040
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Astigmatism, Cardiomyopathy, Iris hypopigmentation, Epistaxis, Catar...	ORPHA:79430
Hermansky-Pudlak Syndrome 1	Cardiomyopathy, Hematochezia, Epistaxis, Renal insufficiency, Ocular albinism	OMIM:203300
Okamoto Syndrome	Abnormal left ventricle morphology, Primum atrial septal defect, Aortic valve stenosis, Abnormal ...	ORPHA:2729
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Macrocephaly, Arteriovenous malformation, Hepatic arteriovenous malf...	ORPHA:2929
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long penis, Abnormal ext...	ORPHA:90794
Alternating Hemiplegia Of Childhood	Mydriasis, Facial hypotonia, Skewfoot, Cardiomyopathy, Cardiac conduction abnormality, Arrhythmia...	ORPHA:2131
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Bifid penis, Bifid scrotum, Absent penis, Abnormal heart m...	ORPHA:322
Hydrolethalus Syndrome 1	Hypospadias, Abnormal vagina morphology, Accessory spleen, Bifid uterus, Ventricular septal defec...	OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Micropenis	OMIM:614083
Chromosome 17Q12 Deletion Syndrome	Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Cryptorchidism	OMIM:614527
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Cryptorchidism, Precocious puberty, Biliary...	OMIM:194190
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Norrie Disease	Aplasia/Hypoplasia of the lens, Venous insufficiency, Scoliosis, Corneal opacity, Hypoplasia of t...	ORPHA:649
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology	ORPHA:1521
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Holoprosencephaly 2	Microphthalmia, Remnants of the hyaloid vascular system, Single ventricle	OMIM:157170
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hypospadias, Aplasia of the uterus, Cryptorchidism, Tetralogy of Fallot, At...	OMIM:135900
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
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, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Familial Cerebral Cavernous Malformation	Scoliosis, Venous malformation, 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 21.0 Data