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Gene: Cbs MGI:88285

Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:

cystathionine beta-synthase

Synonyms:

HIP4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Cbs 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 Cbs (2 diseases)
Human diseases predicted to be associated with Cbs (2705 diseases)

The table below shows human diseases associated to Cbs by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency		Arachnodactyly, Kyphoscoliosis, Methioninuria, Limitation of joint mobility, Osteoporosis, Scolio...	OMIM:236200
Classic Homocystinuria		Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394

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

Disease	Matching phenotypes	Source
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Severe short stature, Wid...	OMIM:619598
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Brachydactyly Type A1	Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys...	ORPHA:93388
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Spinal Dysplasia, Anhalt Type	Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Coxa vara...	OMIM:601344
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Coxa valga, Hypoplastic ilia, Joint stiffness, Vertebr...	OMIM:616583
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Spondylometaphyseal Dysplasia, Corner Fracture Type	Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Coxa vara, Hyperconvex...	OMIM:184255
Dysspondyloenchondromatosis	Short stature, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Ab...	ORPHA:85198
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P...	ORPHA:411527
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Split h...	ORPHA:2019
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Short neck, Hip ...	OMIM:618395
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate...	OMIM:305390
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Autosomal Dominant Brachyolmia	Short stature, Kyphoscoliosis, Increased vertebral height, Platyspondyly, Abnormal metaphysis mor...	ORPHA:93304
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short...	OMIM:271630
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti...	ORPHA:891
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Epiphyseal dysplasia, Broad hallux, Arachnodactyly, Fifth finger distal phalanx clino...	OMIM:615923
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Short stature, Coxa...	OMIM:616716
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ...	OMIM:249600
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin...	OMIM:133780
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Eales Disease	Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti...	ORPHA:40923
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Syndactyly, Short stature, Kyphoscoliosis, Aplasia/Hypoplasia of toe, Duplication of metatarsal b...	OMIM:600384
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Vitreoretinopathy, Neovascular Inflammatory	Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po...	OMIM:193235
Aase-Smith Syndrome	Multiple joint contractures, Camptodactyly of finger, Joint stiffness, Aplasia/Hypoplasia of the ...	ORPHA:916
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening...	ORPHA:750
Gurrieri Syndrome	Hypoplastic acetabulae, Decreased anterioposterior diameter of lumbar vertebral bodies, Short sta...	OMIM:601187
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, ...	OMIM:612847
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Opsismodysplasia	Abnormally ossified vertebrae, Severe short stature, Tapered finger, Joint stiffness, Squared ili...	ORPHA:2746
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Knee dislocation, Irregular vertebral endplates, Microretrognathia, Short stature, ...	OMIM:618363
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Irregularity of vertebral bodies, Short stat...	OMIM:609324
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Hypoplastic vertebral bodies, Lambdoidal craniosynostosis, Coronal craniosynostosis, ...	OMIM:601370
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Hypoplasia of...	OMIM:609813
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Metaphyseal Dysplasia Without Hypotrichosis	Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th...	OMIM:250460
Parastremmatic Dwarfism	Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v...	OMIM:168400
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st...	ORPHA:2249
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Halberd-shaped pelvis, Narrow greater...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re...	OMIM:193220
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli...	ORPHA:2635
Dysosteosclerosis	Craniofacial hyperostosis, Increased bone mineral density, Short stature, Recurrent fractures, Hy...	ORPHA:1782
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers...	OMIM:227270
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Severe short stature, Ovoid vertebral bodies,...	OMIM:132400
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Short Stature, Dauber-Argente Type	Long toe, Osteopenia, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth...	OMIM:619489
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Absent radius, Elbow dislocation, ...	OMIM:171480
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia...	ORPHA:52056
Intellectual Developmental Disorder, Autosomal Dominant 62	Joint laxity, Pes planus, Arachnodactyly, Increased arm span, Scoliosis	OMIM:618793
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Short stature, Flat capit...	OMIM:226900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Abnorm...	ORPHA:94068
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Elbow dislocation, Advanced ossification of carpal bones...	OMIM:620269
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ...	ORPHA:2491
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S...	ORPHA:79106
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia...	OMIM:108720
Richieri Costa-Da Silva Syndrome	Short stature, Kyphoscoliosis, Short neck, Metatarsus adductus, Limitation of joint mobility, Ver...	ORPHA:3101
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type	Long toe, Pes planus, Arachnodactyly, Large hands, Thoracic kyphosis	OMIM:300263
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, Hypoplastic iliac wing, Abnor...	ORPHA:93315
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:1548
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Pes planus, Short metacarpal, Joint laxity, Short stature, Camptodactyly of finger, K...	OMIM:612350
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Sh...	OMIM:602471
Haim-Munk Syndrome	Pes planus, Congenital palmoplantar hyperkeratosis, Arachnodactyly, Osteolytic defects of the pha...	OMIM:245010
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Short stature, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemiver...	ORPHA:2916
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Broad hallux, Short stature, Kyphoscoliosis, Hypermobility of interphalangeal joints, Atlantoaxia...	ORPHA:3433
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Dispr...	ORPHA:40
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,...	OMIM:184253
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp...	OMIM:612447
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ...	OMIM:215140
Metaphyseal Anadysplasia	Bowing of the long bones, Short stature, Abnormal morphology of ulna, Joint stiffness, Abnormalit...	ORPHA:1040
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Flexion contracture, Disproportionate short ...	OMIM:222765
Diastrophic Dysplasia	Proximal placement of thumb, Micromelia, Micrognathia, Symphalangism affecting the phalanges of t...	ORPHA:628
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo...	OMIM:614727
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Coxa vara, Arthralgia of the hip, Lumbar hyperlordosis, ...	ORPHA:99642
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat...	OMIM:147891
Acrodysostosis 1 With Or Without Hormone Resistance	Mild postnatal growth retardation, Neonatal epiphyseal stippling, Short metatarsal, Hypoplastic v...	OMIM:101800
Shox-Related Short Stature	Short stature, Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, ...	ORPHA:314795
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os...	OMIM:177170
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Tapered finger, Flat capital femoral epiphysis, Thenar muscle atrophy, Moderately sho...	ORPHA:157965
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Short stature, Abnor...	ORPHA:950
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short...	OMIM:600325
Holoprosencephaly-Craniosynostosis Syndrome	Short stature, Craniosynostosis, Coxa valga, Hypoplastic vertebral bodies, Clinodactyly of the 5t...	ORPHA:2163
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia, Arachnodactyly, Short stature, Joint stiffness	ORPHA:1144
Gm1-Gangliosidosis, Type Ii	Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Platyspondyly, Limb undergrowth, Scoli...	OMIM:230600
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Hypoplastic distal hume...	OMIM:164745
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Hypoplasia of the radius, Hemiver...	OMIM:212780
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Kyphoscol...	OMIM:614856
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Plin1-Related Familial Partial Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating...	ORPHA:280356
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow, Flexion contracture, Disp...	ORPHA:263463
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, M...	OMIM:609052
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent...	OMIM:613313
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Kyphoscoliosis, Postaxial polydactyly	OMIM:612913
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Short stature, Rocker botto...	ORPHA:2616
Femoral-Facial Syndrome	Short femur, Short stature, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morphology,...	ORPHA:1988
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc...	OMIM:215100
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Pes planus, Tapered finger, Obesity, Short foot, Pes cavus	OMIM:309585
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Micrognathia, Postnatal growth retardation, Wide anterior fontanel, Ulnar...	OMIM:619135
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Tracheobronchomalacia, Short phalanx of ...	ORPHA:56304
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Short stature, Premature osteoarthritis, Coxa vara, Genu ...	OMIM:607078
Mietens Syndrome	Hypoplasia of the ulna, Severe short stature, Talipes, Coxa valga, Metatarsus adductus, Avascular...	ORPHA:2557
Maternal Uniparental Disomy Of Chromosome 9	Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dislocation, Intrauter...	ORPHA:96183
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Pes planus, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Short stature, Small hand, C...	OMIM:617755
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hyp...	OMIM:609325
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Hyperlordosis, Metaphyse...	ORPHA:2501
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat...	ORPHA:457395
Infantile Liver Failure Syndrome 3	Abnormal acetabulum morphology, Short stature, Abnormality of the epiphysis of the femoral head, ...	OMIM:618641
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocati...	ORPHA:75840
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Microretrognathia, Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Short stature, Sho...	ORPHA:2994
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital...	ORPHA:93308
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Disproportionate short stature, Flattened epiphysis, Tibi...	ORPHA:93356
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Progressive Pseudorheumatoid Arthropathy Of Childhood	Enlarged epiphyses, Irregularity of vertebral bodies, Wrist swelling, Coxa vara, Abnormal shoulde...	ORPHA:1159
Cerebrooculofacioskeletal Syndrome 4	Short stature, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Kyphoscoliosis, Failure...	OMIM:610758
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Kyphoscoliosis, Ankle contracture, Spinal rigidity, Scoliosis...	OMIM:620386
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Retinal cotton wool spot, Gastrointestinal hemorrhage, Raynaud phenomenon, Abnormal retinal vascu...	ORPHA:247691
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ...	ORPHA:166011
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Myotonia With Skeletal Abnormalities And Mental Retardation	Short stature, Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum	OMIM:255710
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Joint laxity, Thoracic kyphosis, Arachnodactyly	ORPHA:2172
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Ovoid vertebral bodies, Coxa valga, Micrognathia, Wide anterior f...	ORPHA:163649
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni...	ORPHA:536516
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great...	OMIM:100800
Mesomelic Dysplasia, Savarirayan Type	Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ...	OMIM:605274
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Pes planus, Arachnodactyly, Short stature, Postaxial polydactyly, Tapered finger, G...	OMIM:619721
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ...	OMIM:201170
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, Talipes equinovarus, Camptodactyly, A...	OMIM:618011
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Disproportionate s...	OMIM:609223
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Scholte Syndrome	Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia, Short foot	OMIM:300977
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Ck Syndrome	Long toe, Microretrognathia, Lumbar hyperlordosis, Kyphoscoliosis, Long fingers, Slender build, J...	ORPHA:251383
Anauxetic Dysplasia 2	Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kyphoscoliosis, Ovoid verteb...	OMIM:617396
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Lamb-Shaffer Syndrome	Pes planus, Overlapping toe, Long fingers, Vertebral clefting, Scoliosis, Clinodactyly, Long hallux	OMIM:616803
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur...	OMIM:239000
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Postaxial hand p...	ORPHA:65759
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short neck, Knee flexi...	OMIM:114300
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Short stature	OMIM:300484
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equin...	OMIM:618484
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla...	ORPHA:93333
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing,...	OMIM:620076
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Knee flexion contracture, Wrist flexion contracture, Arachn...	OMIM:121050
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco...	OMIM:313420
Arthrogryposis, Distal, Type 2B2	Broad hallux, Sandal gap, Ulnar deviation of the wrist, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Roussy-Lévy Syndrome	Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Talipes equinovarus, Scoliosis, Pes c...	ORPHA:3115
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Wide anteri...	ORPHA:1860
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Metaphyseal wideni...	OMIM:300232
Acromicric Dysplasia	Short metacarpal, Severe short stature, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot...	OMIM:102370
Bullous Dystrophy, Hereditary Macular Type	Severe short stature, Short finger, Tapered finger	OMIM:302000
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:3027
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia	ORPHA:357175
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Short neck, Kyphos...	ORPHA:958
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Short stature, Kyphosis, Joint contracture of the 5th fi...	ORPHA:1883
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Knee disl...	OMIM:143095
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short...	OMIM:301900
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Short stature, Kyphosis, Absen...	OMIM:108145
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive	Severe short stature, Tapered finger, Split hand, Split foot, Scoliosis	OMIM:220600
Smith-Mccort Dysplasia 2	Short neck, Short metatarsal, Short phalanx of finger, Short metacarpal, Short stature, Hyperlord...	OMIM:615222
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Micrognathia, Shor...	OMIM:255800
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti...	ORPHA:79345
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific...	OMIM:618392
Boudin-Mortier Syndrome	Long toe, Mallet finger, Pes planus, Joint laxity, Arachnodactyly, Long fingers, Pseudoepiphyses ...	OMIM:619543
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia	OMIM:615162
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Intellectual Developmental Disorder, X-Linked, Syndromic, Raymond Type	Pes planus, Arachnodactyly, Joint contracture of the 5th finger	OMIM:300799
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Short stature, Obesity, Genu valgum, Joint hyperflexibility	ORPHA:1035
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth	OMIM:218650
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Fibrochondrogenesis 1	Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Hyperlordosis, Hypop...	OMIM:184250
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Acromegaloid Facial Appearance Syndrome	Micrognathia, Tapered finger, Large for gestational age, Large hands, Short 5th metacarpal, Joint...	OMIM:102150
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Odontoid Hypoplasia	Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o...	OMIM:613628
Vertebral Hypoplasia With Lumbar Kyphosis	Lumbar kyphosis, Vertebral hypoplasia	OMIM:192900
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ...	ORPHA:93351
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal form of the vertebral bodi...	ORPHA:3104
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Micrognathia, Short neck, Elbow flexion contracture...	OMIM:277720
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Short femur, Fractured radius, Small for gestational age, Decreased fibular diameter,...	OMIM:616897
Galloway-Mowat Syndrome 2, X-Linked	Short stature, Arachnodactyly, Micrognathia, Scoliosis, Intrauterine growth retardation	OMIM:301006
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Beaking of verte...	ORPHA:79255
2Q32Q33 Microdeletion Syndrome	Broad hallux phalanx, Arachnodactyly, Short stature, Micrognathia, Growth delay, Joint hyperflexi...	ORPHA:251019
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s...	OMIM:607326
Intellectual Developmental Disorder, X-Linked 19	Small for gestational age, Long foot, Scoliosis, Kyphoscoliosis	OMIM:300844
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Sandal gap, Rhizomelia, Small for gestational age, Hypoplasia of the ...	OMIM:607143
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Humeroradial synostosis, Arachnodactyly, Oligodactyly	OMIM:614416
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ...	ORPHA:85172
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Short stature, Absent thumb, Unilateral radial aplasia, Hypoplasia of the...	OMIM:614900
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me...	OMIM:602111
Charcot-Marie-Tooth Disease Type 4D	Kyphoscoliosis, Abnormal foot morphology, Split hand, Upper limb amyotrophy, Hammertoe, Distal up...	ORPHA:99950
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t...	ORPHA:3098
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Proximal muscle weakness in upper limbs, Ankle flexion contracture, Kyphoscoliosis, Calf muscle h...	OMIM:616668
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Joint laxity, Hypoplasia of the femoral he...	OMIM:610797
Congenital Generalized Lipodystrophy	Low anterior hairline, Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Large hands, Oligom...	ORPHA:528
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi...	ORPHA:505237
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Split hand, Talipes equinovarus, Kyphoscoliosis	OMIM:607831
Ulna Metaphyseal Dysplasia Syndrome	Short stature, Abnormal morphology of ulna, Abnormal fibula morphology, Abnormal form of the vert...	ORPHA:1837
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen...	ORPHA:264580
Parana Hard Skin Syndrome	Growth delay, Short stature, Restricted chest movement, Tapered finger	ORPHA:2812
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga,...	ORPHA:356961
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures...	OMIM:610968
Joubert Syndrome 18	Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Ta...	OMIM:614815
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi...	OMIM:112350
Juberg-Hayward Syndrome	Toe syndactyly, Severe short stature, Short thumb, Hypoplasia of the radius, Abnormal finger morp...	ORPHA:2319
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Short stature...	OMIM:600373
Fryns-Smeets-Thiry Syndrome	Arachnodactyly, Short stature, Cachexia, Micrognathia, Patellar aplasia, Hip dislocation, Joint h...	ORPHA:2058
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Short stature, Kyphoscoliosis	OMIM:615541
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Roussy-Levy Hereditary Areflexic Dystasia	Hammertoe, Pes cavus, Kyphoscoliosis	OMIM:180800
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Tapered finger, Kyphosis, Obesity, Large hands, Scoliosis	ORPHA:276630
Charcot-Marie-Tooth Disease, Type 4B2	Kyphoscoliosis, Split hand, Hammertoe, Talipes equinovarus, Ulnar claw, Pes cavus	OMIM:604563
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Thoracic kyphosis, Clinodactyly, Pes cavus	OMIM:619092
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ...	OMIM:613848
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Paternal Uniparental Disomy Of Chromosome 5	Abnormal fibular epiphysis morphology, Rhizomelic arm shortening, Short lower limbs, Kyphoscoliosis	ORPHA:96190
Intellectual Developmental Disorder, Autosomal Recessive 79	Pes planus, Short hallux, Long fingers, Clinodactyly of the 5th finger, Slender finger	OMIM:620393
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A...	ORPHA:1836
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Arachnodactyly, Kyphoscoliosis, Methioninuria, Limitation of joint mobility, Osteoporosis, Scolio...	OMIM:236200
Stickler Syndrome, Type I	Arachnodactyly, Micrognathia, Joint stiffness, Kyphosis, Irregular femoral epiphysis, Osteoarthri...	OMIM:108300
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Pes cavus	OMIM:118220
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Abnormal morphology...	ORPHA:2633
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Radial deviation of the hand, Pes ...	OMIM:607323
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Arachnodactyly, Joint stiffness, Deviation of finger, Bilateral talipes equinovarus, Congenital f...	ORPHA:1154
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Short stature, Kyphoscoliosis, Flexion contracture, Hyperextensible ...	OMIM:275900
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Joint stiffness, Flexion cont...	ORPHA:115
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Long toe, Pes planus, Osteopenia, Arachnodactyly, Short stature, Kyphoscoliosis, Palmoplantar cut...	ORPHA:75496
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris...	OMIM:259600
Warburg Micro Syndrome 1	Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Failure to thrive, Jo...	OMIM:600118
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Short stature, Postaxial polydac...	ORPHA:397715
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Short stature, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fu...	OMIM:614078
Transaldolase Deficiency	Thrombocytopenia, Hydrops fetalis, Telangiectasia, Hepatosplenomegaly, Biventricular hypertrophy,...	ORPHA:101028
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco...	OMIM:615349
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Short neck, Long fingers, Bul...	ORPHA:1617
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Scoliosis, Short femur, Foot oligodactyly, Amelia	OMIM:601357
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox...	OMIM:617425
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Short stature, Hypertriglyc...	OMIM:612526
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Kyphoscoliosis, Micrognathia, Missi...	OMIM:200980
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Arachnodactyly, Short stature, Cachexia, Micrognathia, Short neck, Small hand, E...	ORPHA:371364
Nemaline Myopathy 7	Pes planus, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Knee flexion contracture, Shou...	OMIM:610687
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscol...	ORPHA:3041
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Proximal 16P11.2 Microduplication Syndrome	Short stature, Arachnodactyly, Hemivertebrae, Scoliosis, Failure to thrive, Decreased body mass i...	ORPHA:370079
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Osteopenia, Severe short st...	OMIM:231070
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ...	OMIM:251450
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Scoliosis, Brachyd...	ORPHA:776
Distal Duplication 15Q	Arachnodactyly, Camptodactyly of finger, Joint stiffness, Short neck, Micrognathia, Intrauterine ...	ORPHA:1707
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Sho...	OMIM:251230
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short stature, Short neck, Joint stiff...	OMIM:252940
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Palmar pits, Plantar pits, Hemivertebrae, Vertebral wedging, Sc...	ORPHA:377
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r...	OMIM:313400
Coffin-Siris Syndrome 5	Sandal gap, Arachnodactyly, Short stature, Intrauterine growth retardation, Short distal phalanx ...	OMIM:616938
Alpha-2-Deficient Collagen Disease	Arachnodactyly	OMIM:203760
Gm1-Gangliosidosis, Type I	Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bodies, Scolio...	OMIM:230500
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2115
Frontometaphyseal Dysplasia 1	Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo...	OMIM:305620
Mass Syndrome	Arachnodactyly, Scoliosis	OMIM:604308
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Short stature, Hepat...	ORPHA:369
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl...	OMIM:601559
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Hip dislocation,...	OMIM:616507
Stickler Syndrome, Type Ii	Long fingers, Arachnodactyly, Joint hypermobility, Micrognathia	OMIM:604841
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Limitation of joint mobility, Arachnodactyly, Hip dislocation	ORPHA:171719
Arthrogryposis, Distal, With Impaired Proprioception And Touch	Pes planus, Sandal gap, Arachnodactyly, Short stature, Flexion contracture, Hip dysplasia, Talipe...	OMIM:617146
Multiple Sulfatase Deficiency	Hypoplastic vertebral bodies, Broad hallux, Broad thumb, Short stature	OMIM:272200
Cog7-Cdg	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea...	ORPHA:79333
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Kniest Dysplasia	Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal cartilage collage...	OMIM:156550
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Micrognathia, Short neck, Progressive intervertebral spa...	ORPHA:1716
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Kyphoscoliosis, Split hand, Hammertoe, Ulnar claw, Pes cavus	OMIM:118200
Ataxia-Oculomotor Apraxia Type 4	Kyphoscoliosis, Abnormal toe morphology, Obesity, Distal lower limb muscle weakness, Pes cavus	ORPHA:459033
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Missing ribs, Hemivertebrae, Abnormal form of the vertebral bodies, Jo...	ORPHA:2759
Trichohepatoenteric Syndrome 1	Brittle hair, Polyhydramnios, Hepatic fibrosis, Hypoalbuminemia, Sparse hair, Intrauterine growth...	OMIM:222470
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda...	OMIM:258860
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont...	ORPHA:496689
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Premature ovarian insufficiency, Short stature, Thin nail, Absent eyelashes, Hype...	OMIM:618625
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Hemivertebrae, Flat acetabular r...	OMIM:619345
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae, Kyphos...	OMIM:309350
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing...	OMIM:600920
Marden-Walker Syndrome	Arachnodactyly, Micrognathia, Short neck, Wide anterior fontanel, Kyphosis, Postnatal growth reta...	OMIM:248700
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Joint hyperflexibility, Palmoplantar keratod...	ORPHA:2824
Donohue Syndrome	Precocious puberty, Postnatal growth retardation, Long penis, Hyperinsulinemia, Acanthosis nigric...	OMIM:246200
Larsen-Like Syndrome	Joint laxity, Short stature, Kyphoscoliosis, Wide anterior fontanel, Talipes equinovarus, Radial ...	OMIM:608545
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Postnatal growth re...	OMIM:263750
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Campto...	ORPHA:2804
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Kuskokwim Syndrome	Talipes, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form of the vertebral bodie...	ORPHA:1149
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat...	ORPHA:79230
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
16P13.11 Microduplication Syndrome	Pes planus, Arachnodactyly, Craniosynostosis, Joint hyperflexibility, Hand polydactyly	ORPHA:261243
Solitary Bone Cyst	Back pain, Abnormal tibia morphology, Abnormal pubic bone morphology, Abnormal form of the verteb...	ORPHA:83468
Lipodystrophy, Familial Partial, Type 3	Reduced subcutaneous adipose tissue, Decreased HDL cholesterol concentration, Prominent superfici...	OMIM:604367
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Micrognat...	OMIM:610756
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Cerebrooculofacioskeletal Syndrome 1	Failure to thrive, Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Mic...	OMIM:214150
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Small for gestational age, Short stature, Postnatal growth retardation, Low anterior hairline, Lo...	ORPHA:73272
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Alagille Syndrome	Hypoplasia of the ulna, Failure to thrive, Micrognathia, Abnormal form of the vertebral bodies, V...	ORPHA:52
Laurence-Moon Syndrome	Finger syndactyly, Hypoplasia of penis, Epicanthus, Renal insufficiency, Short stature, Cryptorch...	ORPHA:2377
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ...	ORPHA:79240
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Genu recurvatum, Single transverse palmar crease, Micrognathia, Flexion contracture, ...	OMIM:130070
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Abnormal finger flexion crease, Decrease...	ORPHA:2980
Rajab Interstitial Lung Disease With Brain Calcifications 2	Short stature, Arachnodactyly, Joint hypermobility, Scoliosis	OMIM:619013
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, Micrognathia, Elb...	OMIM:264180
Galloway-Mowat Syndrome 7	Hallux valgus, Arachnodactyly, Single transverse palmar crease, Kyphoscoliosis, Micrognathia, Sho...	OMIM:618348
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Dysplastic sacrum, ...	OMIM:134780
Cervical Vertebrae, Agenesis Of	Cervical vertebral agenesis	OMIM:214290
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Deviation of the...	ORPHA:391408
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Sandal gap, Rhizomelia, Cervical kyphosis, Micrognat...	OMIM:108721
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Hypoplasia of the radius, Patel...	OMIM:617604
Transaldolase Deficiency	Synophrys, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Hepatomegaly, Patent duc...	OMIM:606003
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Verteb...	OMIM:611209
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Scaling skin, Elevated hepatic iron concentration, ...	ORPHA:101330
Central Core Disease	Joint laxity, Pes planus, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis...	ORPHA:597
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Contractures-Developmental Delay-Pierre Robin Syndrome	Overlapping toe, Arachnodactyly, Thoracolumbar scoliosis, Micrognathia, Metatarsus adductus, Shor...	ORPHA:436003
Crisponi/Cold-Induced Sweating Syndrome 1	Short palm, Pes planus, Kyphoscoliosis, Tapered finger, Micrognathia, Short neck, Elbow flexion c...	OMIM:272430
Ruvalcaba Syndrome	Short metacarpal, Short stature, Micromelia, Kyphosis, Limited elbow extension, Small hand, Short...	OMIM:180870
Ataxia-Telangiectasia	Elevated hepatic transaminase, Recurrent respiratory infections, Hypopigmentation of hair, Diabet...	ORPHA:100
Ichthyosis--Cheek--Eyebrow Syndrome	Pes planus, Kyphoscoliosis	OMIM:146720
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ...	ORPHA:536467
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Maternal diabetes, Splenomeg...	ORPHA:79083
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor...	OMIM:277300
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Genu recurvatum, Arachnodactyly, Kyphosis, Scoliosis	OMIM:609008
Porphyria Cutanea Tarda, Type I	Eczema, Porphyrinuria, Hepatic fibrosis, Fragile skin, Hypertrichosis	OMIM:176090
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy...	ORPHA:231226
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Hypertrophic Neuropathy Of Dejerine-Sottas	Pes planus, Kyphoscoliosis, Split hand, Hammertoe, Scoliosis, Ulnar claw, Distal lower limb muscl...	OMIM:145900
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplas...	ORPHA:110
Clark-Baraitser syndrome	Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Obesity, Genu valgum, Scolio...	OMIM:300602
Brown-Vialetto-Van Laere Syndrome 2	Kyphoscoliosis, Split hand, Scoliosis	OMIM:614707
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis...	ORPHA:93329
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase...	OMIM:615703
Syndromic X-Linked Intellectual Disability 7	Short stature, Obesity, Tapered finger	ORPHA:85274
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Short stature, Urinary incontine...	ORPHA:263487
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Arachnodactyly, Short stature, Micrognathia, Short neck, Calcaneovalgus deformity, Flexion contra...	ORPHA:562528
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Howell-Jolly bodies, Ventricular septal defect, Portal inflammation, Elevated circulating alanine...	OMIM:613759
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Erythrokeratodermia Variabilis	Alopecia, Diabetes mellitus, Short stature, Skin rash, Tapered finger, Abnormal hair morphology, ...	ORPHA:317
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Joint stiffness, Abnorm...	ORPHA:1350
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Eunuchoid habitus, Small hypothenar eminence, Arachnodactyly, Joint hypermobility, Th...	ORPHA:2463
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr...	OMIM:616145
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increased serum iron, ...	ORPHA:446
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, I...	OMIM:615285
Omodysplasia 1	Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Diabetes mellitus, Hypogonadotropic hypogo...	OMIM:235200
Spinal Muscular Atrophy, Ryukyuan Type	Pes cavus, Kyphoscoliosis	OMIM:271200
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Broa...	OMIM:300280
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ...	ORPHA:1354
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Short stature, Micromelia, ...	ORPHA:93296
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Arachnodactyly, Increased vertebral height, Scoliosis, Camptodactyly, Camptodactyly of toe, Broad...	OMIM:610474
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of...	ORPHA:239
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Hamel Cerebro-Palato-Cardiac Syndrome	Arachnodactyly, Short stature, Micrognathia	ORPHA:93946
Cohen Syndrome	Finger syndactyly, Arachnodactyly, Sandal gap, Short stature, Tapered finger, Micrognathia, Kypho...	ORPHA:193
Nicolaides-Baraitser Syndrome	Abnormal finger morphology, Short palm, Sparse hair, Alopecia, Curly eyelashes, Highly arched eye...	ORPHA:3051
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Tetrasomy 15Q26	Microretrognathia, Arachnodactyly, Kyphoscoliosis, Camptodactyly, Intrauterine growth retardation	OMIM:614846
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Short stature, Down-sloping shoulders, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ver...	OMIM:616817
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Failure to thrive, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulati...	OMIM:617872
Congenital Myopathy 23	Scapular winging, Flexion contracture, Kyphoscoliosis	OMIM:609285
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap...	OMIM:208500
Hemochromatosis, Neonatal	Nonimmune hydrops fetalis, Increased circulating ferritin concentration, Cholestasis, Hepatocellu...	OMIM:231100
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Hypoplastic pubic b...	ORPHA:93346
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis	OMIM:236660
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Joint laxity, Arachnodactyly, Abdominal obesity, Talipes equinovarus, Scoliosis, Camptodactyly	OMIM:301039
Hemochromatosis, Type 3	Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc...	OMIM:604250
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Short stature, Elevated cir...	OMIM:232400
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly, Obesity	ORPHA:261222
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Short stature, Proximal femoral metaphyseal irregularity, Disproportionate short-trun...	OMIM:602271
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Chromosome 3Q29 Deletion Syndrome	Small for gestational age, Tapered finger, Long fingers, Clinodactyly of the 5th finger, Failure ...	OMIM:609425
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den...	OMIM:136300
Arthrogryposis, Distal, Type 2A	Short neck, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture, Ulnar devi...	OMIM:193700
Alg8-Cdg	Elevated hepatic transaminase, Hyponatremia, Brachydactyly, Abnormality of subcutaneous fat tissu...	ORPHA:79325
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormality o...	ORPHA:3130
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility, Zygotic cleavage failure	OMIM:619011
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Large tarsal bones, Micrognathia, Flex...	OMIM:215150
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, Short stature, Hyper...	OMIM:226980
Proteus Syndrome	Kyphoscoliosis, Facial hyperostosis, Spinal canal stenosis, Hypertrophy of skin of soles, Calvari...	OMIM:176920
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Generalized joint lax...	ORPHA:93357
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat...	ORPHA:231214
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Large for gestational age, Osteoporosis, Ankle clonus, Scolio...	OMIM:615398
46,Xx Gonadal Dysgenesis	Osteopenia, Arachnodactyly, Short stature, Reduced bone mineral density, Delayed puberty, Osteopo...	ORPHA:243
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Congenital Disorder Of Glycosylation, Type Ia	Renal cyst, Abnormality of the amniotic fluid, Hepatic fibrosis, Hypoalbuminemia, Hypocholesterol...	OMIM:212065
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, S...	ORPHA:2872
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated circulating ala...	OMIM:617950
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Elevated circulati...	OMIM:610717
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hammertoe, Ulnar claw, Hepatic steatosis, Mildly elevated creatine...	OMIM:618400
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Hip dislocation	OMIM:614100
Chronic Mucocutaneous Candidiasis	Abnormal endocardium morphology, Recurrent respiratory infections, Dyspareunia, Abnormal fingerna...	ORPHA:1334
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Pes planus, Arachnodactyly, Short stature, Hyperlordosis, Micrognathia, Scoliosis, ...	OMIM:300986
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz...	ORPHA:179
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Parakeratosis, Sparse eyelashes, Thick hair, Portal hypertension, Sparse ...	OMIM:607626
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Short stature, Osteomyelitis, Skin ra...	ORPHA:47
13Q12.3 Microdeletion Syndrome	Short stature, Kyphoscoliosis, Obesity, Hip dysplasia, Camptodactyly, Intrauterine growth retarda...	ORPHA:412035
Intellectual Developmental Disorder, Autosomal Dominant 66	Clinodactyly of the 5th finger, Arachnodactyly, Scoliosis, Toe clinodactyly	OMIM:619910
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,...	OMIM:151210
Nicolaides-Baraitser Syndrome	Dry hair, Low anterior hairline, Short metatarsal, Prominent interphalangeal joints, Sparse hair,...	OMIM:601358
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Short metacarpal, Severe short stature, Thoracolumbar kyphoscoliosis...	OMIM:618853
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Mesoaxial hand polyd...	OMIM:615996
Intellectual Developmental Disorder, Autosomal Dominant 45	Pes planus, Slender build, Arachnodactyly, Scoliosis	OMIM:617600
Oocyte/Zygote/Embryo Maturation Arrest 10	Repeated implantation failure, Female infertility, Formation of multiple pronuclei during fertili...	OMIM:619176
Senior-Loken Syndrome	Premature ovarian insufficiency, Short stature, Congenital hepatic fibrosis, Chronic kidney disea...	ORPHA:3156
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Low...	ORPHA:35173
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormality of the knee, Short stature, ...	ORPHA:319195
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Flexion contracture, Hip dislocation, Hype...	ORPHA:481152
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation	OMIM:619751
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis	OMIM:300718
Insulin-Resistance Syndrome Type A	Hyperkeratosis, Type II diabetes mellitus, Generalized hirsutism, Delayed puberty	ORPHA:2297
Dystonia-Deafness Syndrome 1	Kyphoscoliosis, Hypoplastic scapulae, Small for gestational age, Femoral retroversion	OMIM:607371
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Polyhydramnios, Cardiomegaly, Large for gestational age, Low anterior hair...	ORPHA:363705
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Short stature, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short d...	ORPHA:1858
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferr...	OMIM:606069
Wilson-Turner Syndrome	Pes planus, Short stature, Micrognathia, Tapered finger, Small hand, Short foot, Truncal obesity,...	ORPHA:3459
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Clinodactyly of the 5th finger, Pes planus, Tapered finger	OMIM:618147
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Premature birth, Decreased serum iron, Wid...	OMIM:614602
Distal Duplication 5Q	Hypoplasia of the ulna, Short stature, Craniosynostosis, Micrognathia, Absent thumb, Hypoplasia o...	ORPHA:96097
19P13.3 Microduplication Syndrome	Kyphoscoliosis, Micrognathia, Long fingers, Hip dislocation, Osteoporosis, Growth delay, Hip dysp...	ORPHA:447980
Anonychia With Flexural Pigmentation	Macular telangiectasia, Abnormal hair morphology, Hyperkeratosis, Anonychia, Follicular hyperkera...	ORPHA:69125
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Syndactyly, Hypoplastic fingernail, Hypospadias, Small for gestational age, Dysmen...	ORPHA:397590
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short...	OMIM:619638
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Blindness-Scoliosis-Arachnodactyly Syndrome	Arachnodactyly, Scoliosis	ORPHA:171844
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture, Small hand, Obesity, Scoliosis, Pe...	OMIM:300055
Laron Syndrome	Limb undergrowth, Short long bone, Severe short stature, Delayed menarche	OMIM:262500
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Joint laxity, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of t...	OMIM:613776
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:611225
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Joint laxity, Arachnodactyly, Short stature, Coxa valga, Elbow dislocation, Metaphyse...	OMIM:620083
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Hypertriglyceridem...	OMIM:300635
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Postnatal growth retardation, Hemi...	OMIM:302960
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, C...	ORPHA:465508
Microphthalmia, Syndromic 8	Cryptorchidism, Split foot, Blepharophimosis, Microphthalmia, Premature skin wrinkling, Short pal...	OMIM:601349
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus,...	ORPHA:84064
Brachyolmia Type 3	Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor...	OMIM:113500
Griscelli Syndrome	Encephalocele, Abnormal eyebrow morphology, Hepatomegaly, Abnormal circulating lipid concentratio...	ORPHA:381
Schaaf-Yang Syndrome	Short stature, Rocker bottom foot, Failure to thrive in infancy, Tapered finger, Kyphosis, Flexio...	OMIM:615547
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Pes planus, Joint hypermobility, Kyphoscoliosis	ORPHA:300179
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Edinburgh Malformation Syndrome	Joint stiffness, Micrognathia, Long fingers, Ulnar deviation of finger, Failure to thrive, Slende...	ORPHA:1895
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Pancreatitis, ...	ORPHA:2348
Ivic Syndrome	Severe short stature, Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb,...	ORPHA:2307
Erythrokeratodermia Variabilis Et Progressiva 5	Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis	OMIM:617756
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology	ORPHA:3032
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Short stature, Camptodactyly of finger, Recurrent fractures, Micrognathia, Short ...	ORPHA:3409
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Coxa val...	OMIM:618150
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Sandal gap, External genital hypoplasia, Elevated ci...	ORPHA:79322
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye...	OMIM:600785
Charcot-Marie-Tooth Disease, Type 4A	Ulnar claw, Hammertoe, Kyphoscoliosis	OMIM:214400
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Spinocerebellar Ataxia, Autosomal Recessive 20	Kyphoscoliosis, Talipes equinovarus, Scoliosis, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:616354
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of joint mobility, Symphalangi...	ORPHA:2741
Gillessen-Kaesbach-Nishimura Syndrome	Thickened nuchal skin fold, Epicanthus, Telecanthus, Ulnar deviation of the hand, Polyhydramnios,...	OMIM:263210
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Arachnodactyly, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, ...	OMIM:615539
Progeria-Short Stature-Pigmented Nevi Syndrome	Lack of facial subcutaneous fat, Microcytic anemia, T lymphocytopenia, Decreased serum estradiol,...	ORPHA:2959
Coffin-Siris Syndrome 6	Short stature, Kyphoscoliosis, Micrognathia, Clinodactyly, Brachydactyly	OMIM:617808
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L...	ORPHA:1423
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Slender finger, Short neck	OMIM:613192
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislo...	ORPHA:536532
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Chromosome 15Q11.2 Deletion Syndrome	Swan neck-like deformities of the fingers, Arachnodactyly, Single transverse palmar crease, Elbow...	OMIM:615656
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Nonimmune hydrops ...	OMIM:617021
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Genu recurvatum, Short stature, Kyphoscoliosis, Split hand, Talipes equinovarus, Pes cavus	OMIM:604168
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Micrognathia, Multiple prenatal fractures, Wide anterio...	OMIM:259420
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Ogden Syndrome	Redundant neck skin, Bicuspid aortic valve, Redundant skin, Maternal diabetes, Cardiomegaly, Abno...	OMIM:300855
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Oocyte/Zygote/Embryo Maturation Arrest 13	Repeated implantation failure, Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility, Zygotic cleavage failure	OMIM:619009
Shprintzen-Goldberg Syndrome	Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio...	ORPHA:2462
Joint Laxity, Short Stature, And Myopia	Short stature, Cervical kyphosis, Kyphoscoliosis, Talipes equinovarus, Joint hypermobility	OMIM:617662
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Severe short stature, Arachnodactyly, Camptodactyly of finger, Long palm, Tape...	ORPHA:2215
Fontaine Progeroid Syndrome	Small scrotum, Bicuspid aortic valve, Redundant skin, Synophrys, Low anterior hairline, Coarse ha...	OMIM:612289
Oocyte/Zygote/Embryo Maturation Arrest 12	Abnormal preimplantation embryonic development, Female infertility	OMIM:619697
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot, Multiple prenatal fra...	OMIM:271225
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypoproteinemia, Decrease...	ORPHA:247585
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Hallux valgus, Pes planus, Osteopenia, Contracture of the proximal interphalangeal joint of the 2...	OMIM:130060
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Short stature, Thoracolumbar scoliosis, Micrognathia, Hyperlordosis, Kyphosis, Small hand, Obesit...	OMIM:618443
Mosaic Trisomy 1	Long toe, Broad toe, Microretrognathia, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Campt...	ORPHA:1692
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Kyphosco...	ORPHA:1145
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Knee dislocation, Short phalan...	OMIM:615777
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, H...	OMIM:619487
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Lateral humeral condyle ...	OMIM:164900
Distal Duplication 17Q	Hallux valgus, Joint laxity, Severe short stature, Overlapping toe, Arachnodactyly, Rhizomelia, M...	ORPHA:3379
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Obesity, Cholestasis, Stage 5 chronic kidney disease, Tubulointer...	OMIM:616629
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hem...	OMIM:608709
Rahman Syndrome	Talipes equinovarus, Kyphoscoliosis, Camptodactyly	OMIM:617537
Occipital Horn Syndrome	Joint laxity, Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusio...	OMIM:304150
Moynahan Syndrome	Alopecia, Short stature, Cachexia, Hyperkeratosis, Hypogonadism, Sparse hair	ORPHA:2574
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy...	ORPHA:2976
Short Stature, Brussels Type	Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of...	ORPHA:2867
Acrocephalopolydactyly	Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty	OMIM:300604
Seckel Syndrome 8	Short stature, Kyphoscoliosis, Micrognathia	OMIM:615807
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Areflexia of upper limbs, Intrinsic hand muscle atrophy, Clubbing of fingers, Are...	OMIM:619574
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Short stature, Kyphoscoliosis, Metatarsus adductus, Postnatal growth retardation,...	OMIM:612513
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Osteoporosis, Increased susceptibility to fractures, J...	ORPHA:90354
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Erythema, Sk...	ORPHA:2584
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Pes planus, Joint laxity, Arachnodactyly, Genu recurvatum, Craniosynostosis, Microgna...	OMIM:182212
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Short neck, Postnatal growth retardation, Humerora...	ORPHA:3404
Leukodystrophy, Hypomyelinating, 17	Growth delay, Flexion contracture, Kyphoscoliosis	OMIM:618006
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent...	OMIM:616229
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger	OMIM:618725
Microcephaly 27, Primary, Autosomal Dominant	Tapered finger, Metatarsus adductus, Short finger, Clinodactyly of the 5th finger, Hip subluxatio...	OMIM:619180
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Toe syndactyly, Arachnodactyly, Short palm, Intrauterine growth retardation	ORPHA:73246
Charcot-Marie-Tooth Disease Type 1A	Calf muscle hypertrophy, Pes cavus, Kyphoscoliosis	ORPHA:101081
Congenital Heart Defects And Skeletal Malformations Syndrome	Pes planus, Arachnodactyly, Sandal gap, Short stature, Kyphosis, Scoliosis, Camptodactyly, Clinod...	OMIM:617602
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, Ca...	ORPHA:824
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Severe short stature, Talipes, Kyphoscoliosis, Micrognathia, Severe generalized ...	OMIM:210730
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Pes planus, Sacral dimple, Sandal gap, Short stature, Long fingers, Limitation of joint...	ORPHA:261279
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Metaphyse...	ORPHA:536471
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Talipes equinovarus, Hepatic failure, Hepatic bridg...	OMIM:616719
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Hydrops fetalis, Renal cyst, Hepatic fibrosis, Sparse hair, Syndactyly, Hypospadias, ...	OMIM:614091
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Postnat...	OMIM:617093
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Recurrent fractures, Craniosynostosis, Joint st...	ORPHA:83
Noonan Syndrome 8	Curly hair, Epicanthus, Atrial septal defect, Short stature, Ventricular septal defect, Polyhydra...	OMIM:615355
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Joint laxity, Overlapping toe, Rocker bottom foot, Bilateral ...	ORPHA:488642
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Pes cavus, Kyphoscoliosis	OMIM:605588
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Aplasia/Hypopla...	ORPHA:971
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated circulating creatine kinase concentration, Lymphadenitis, Neonatal omphalitis, Inflammat...	OMIM:615895
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Hyposp...	OMIM:301045
Hydatidiform Mole, Recurrent, 3	Hydatidiform mole, Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Hydatidiform mole, Female infertility	OMIM:618432
Spondyloocular Syndrome	Long toe, Pes planus, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Short stature,...	OMIM:605822
Adams-Oliver Syndrome	Leukopenia, Absent fingernail, Sparse hair, Pulmonary artery atresia, Encephalocele, Finger synda...	ORPHA:974
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Kyphoscoliosis, Short stature, 2-3 toe syndactyly, Scoliosis	ORPHA:391307
Otospondylomegaepiphyseal Dysplasia	Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Anterior beaking of lu...	OMIM:253000
Achard Syndrome	Joint laxity, Arachnodactyly, Micrognathia	OMIM:100700
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Loeys-Dietz Syndrome 6	Pes planus, Arachnodactyly, Knee osteoarthritis, Scoliosis, Hip osteoarthritis, Intervertebral di...	OMIM:619656
Cardiac-Valvular Ehlers-Danlos Syndrome	Hallux valgus, Pes planus, Sandal gap, Recurrent shoulder dislocation, Genu recurvatum, Thoracolu...	ORPHA:230851
Mucolipidosis Iii Gamma	Short stature, Abnormality of the hand, Short neck, Flat capital femoral epiphysis, Hyperlordosis...	OMIM:252605
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Disproportion...	OMIM:619479
Congenital Myopathy 12	Arachnodactyly, Small for gestational age, Jaw contracture, Camptodactyly, Overlapping fingers, J...	OMIM:612540
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Non-Distal Duplication 13Q	Postaxial hand polydactyly, Arachnodactyly, Micrognathia	ORPHA:1702
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga...	OMIM:208085
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding, Venous malformation	OMIM:600195
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Sparse hair, Atrial septal defect, Decreased circulat...	OMIM:620005
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration	OMIM:615555
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),...	ORPHA:280365
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Short stature, Micromelia, Short neck, Wide distal femoral metaphysis, Sma...	OMIM:613320
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper...	ORPHA:99413
Aquagenic Palmoplantar Keratoderma	Abnormal phalangeal joint morphology of the hand, Recurrent sinopulmonary infections, Excessive s...	ORPHA:498359
Mosaic Monosomy X	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Ectopic kidney, Hypoplastic toenails, Gastrointestinal inflammation, Hyper...	ORPHA:881
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, O...	OMIM:259770
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Hepatomegaly, Elevated hepatic transaminase, Portal hyper...	OMIM:216360
Neuhauser Syndrome	Osteopenia, Pes planus, Genu recurvatum, Arachnodactyly, Short stature, Micrognathia, Genu valgum...	OMIM:249310
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda...	OMIM:618659
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Kyphoscoliosis	OMIM:617977
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Kyphoscoliosis	OMIM:619099
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Short stature, Kyphoscoliosis, Micrognathia, Partial duplication of...	OMIM:616331
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra...	ORPHA:95699
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Short stature, Recurrent fractures, Increased susceptibility to fractures, Femoral bo...	OMIM:615066
Baralle-Macken Syndrome	Pes planus, Kyphosis, Obesity, Tapered finger	OMIM:619255
Say Syndrome	Ulnar deviation of the 3rd finger, Short stature, Micrognathia, Tapered finger, Short distal phal...	OMIM:181180
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus	OMIM:618845
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar creas...	OMIM:218330
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Short stature, Aplastic anemia, Dilated cardiomyopathy, Palmopl...	OMIM:613989
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Ventricular septal defect, Splenomegaly, Postaxial hand polydactyly,...	OMIM:615630
Lipodystrophy, Congenital Generalized, Type 2	Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Large hands, Umbilical hernia, Hirsutism, ...	OMIM:269700
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated...	ORPHA:435660
Distal 22Q11.2 Microdeletion Syndrome	Pes planus, Bowing of the long bones, Toe syndactyly, Arachnodactyly, Sandal gap, Camptodactyly o...	ORPHA:261330
Pierpont Syndrome	Short palm, Prominent fingertip pads, Telecanthus, Short stature, Cryptorchidism, Short toe, Unil...	OMIM:602342
Autosomal Recessive Spastic Paraplegia Type 23	Short stature, Hip dislocation, Kyphoscoliosis	ORPHA:101003
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Plantar hyperkeratosis, Abnormal trabecular bone morphology, ...	ORPHA:2909
Keratoderma Hereditarium Mutilans	Alopecia, Autoamputation of digits, Hypogonadotropic hypogonadism, Amniotic constriction ring, Ho...	ORPHA:494
Congenital Disorder Of Glycosylation, Type Iih	Epicanthus, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concent...	OMIM:611182
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Osteopathia Striata With Cranial Sclerosis	Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Short stature, Tracheomalacia, Mic...	OMIM:300373
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Increased urine succinate level, Elevated...	OMIM:619048
Charcot-Marie-Tooth Disease, Type 4D	Claw hand deformity, Kyphoscoliosis, Talipes cavus equinovarus, Hammertoe, Pes cavus	OMIM:601455
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Gm1-Gangliosidosis, Type Iii	Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Anterior beaking of lumbar vertebrae, ...	OMIM:230650
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration	OMIM:242530
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial...	OMIM:304120
Congenital Muscular Dystrophy Without Intellectual Disability	Achilles tendon contracture, Kyphoscoliosis	ORPHA:370980
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Large for gestational age, Kyphosis, Flexion cont...	ORPHA:314588
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Short stature, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, T...	ORPHA:3201
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Abnormal reprodu...	ORPHA:70472
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Ulnar deviation of the hand, Short stature, Limb joint contracture, Kyphoscoliosis, Delayed puberty	OMIM:612079
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Cardiofaciocutaneous Syndrome	Brittle hair, Redundant skin, Sparse hair, Atrial septal defect, Dystrophic fingernails, Prematur...	ORPHA:1340
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Decreased skull ossification, Parti...	ORPHA:955
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Talipes equinovarus, Hepatosplenomegaly	ORPHA:466794
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Frank-Ter Haar Syndrome	Short palm, Osteopenia, Bowing of the long bones, Anterior concavity of thoracic vertebrae, Kypho...	OMIM:249420
Cohen Syndrome	Pes planus, Short metacarpal, Thoracic scoliosis, Lumbar hyperlordosis, Single transverse palmar ...	OMIM:216550
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Acrocraniofacial Dysostosis	Short stature, Craniosynostosis, Tapered finger, Coxa valga, Micrognathia, Abnormal form of the v...	ORPHA:949
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Short neck, Large for gestational age, Flexion con...	ORPHA:96334
Distal 17P13.1 Microdeletion Syndrome	Arachnodactyly, Limited elbow movement, Abnormal hand morphology, Generalized joint laxity, Limit...	ORPHA:319171
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Abnormal toe morphology, Abnormal...	OMIM:163200
Foxg1 Syndrome	Short stature, Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Decreased body weight	ORPHA:561854
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Abnormality of the knee, Lumbar hyperlordosis, Broad hallux, Micrognathia, Short neck...	ORPHA:251028
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619386
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration	OMIM:161900
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal ossification, Flexion co...	OMIM:616007
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Decreased body weight, Short stature, Tapered finger	OMIM:619033
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Aromatase Deficiency	Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism...	ORPHA:91
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Long fingers, Mild short stature, Tapered finger	OMIM:618292
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Finger clinodactyly, Sh...	ORPHA:79474
Aortic Aneurysm, Familial Thoracic 9	Arachnodactyly	OMIM:616166
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Increased body weight, Hepatic steatosis, Alopecia, Acne, Increased circulating cortiso...	ORPHA:189427
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Inflammation of the large intestine, Elevated...	OMIM:614576
Acquired Partial Lipodystrophy	Proteinuria, Progeroid facial appearance, Lymphocytosis, Microscopic hematuria, Hepatic steatosis...	ORPHA:79087
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly...	ORPHA:166277
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow...	OMIM:200600
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo...	ORPHA:392
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Kyphoscolios...	OMIM:309583
Spondyloenchondrodysplasia With Immune Dysregulation	Metaphyseal dysplasia, Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short iliac bones, Me...	OMIM:607944
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,...	OMIM:618188
Loeys-Dietz Syndrome 5	Pes planus, Scapular winging, Arachnodactyly, Short stature, Kyphoscoliosis, Failure to thrive in...	OMIM:615582
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Tyrosinosis	Hypertyrosinemia	OMIM:276800
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Cardiomyopathy, Ethylmalonic aciduria, Increase...	ORPHA:26792
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Short stature, Tapered finger, Truncal obesity, Cubitus valgus, Bilateral single transverse palma...	ORPHA:85280
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Flexion contracture, Kyphoscoliosis	OMIM:607855
Nephrotic Syndrome, Type 11	Clinodactyly, Partial duplication of thumb phalanx, Arachnodactyly, Micrognathia	OMIM:616730
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:79085
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Palmoplantar hyperkeratosis, Hyperkeratosis, Abnorma...	ORPHA:89838
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Joint laxity, Hyperlordosis, Hypop...	OMIM:253010
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-...	ORPHA:435651
Mccune-Albright Syndrome	Abnormal femur morphology, Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wastin...	ORPHA:562
Mucopolysaccharidosis, Type Vi	Epiphyseal dysplasia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscoliosis...	OMIM:253200
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Obesity, Postaxial foot...	OMIM:209900
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Synophrys, Wide pen...	ORPHA:3455
Ring Chromosome Y Syndrome	Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge...	ORPHA:261529
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Eczema, Microcytic anemia, Dry skin, Cutis laxa, Coloboma, Hyperke...	OMIM:612379
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi...	OMIM:609128
King-Denborough Syndrome	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Fa...	OMIM:619542
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Metaphyseal widening, Low anterior hairline, Leukopenia, Coarse hair, Hypoalbuminemia,...	OMIM:617303
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Short stature, Camptodactyly of finger, Tapered finger, Talipes equinovarus, Short palm, Clinodac...	ORPHA:85279
Congenital Disorder Of Glycosylation, Type Iie	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Low anterior h...	OMIM:608779
Bloom Syndrome	Facial erythema, Clinodactyly of the 5th finger, Decreased circulating IgG level, Hepatic steatos...	OMIM:210900
Lipodystrophy, Congenital Generalized, Type 1	Acanthosis nigricans, Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Large hands, Umbilical her...	OMIM:608594
Intellectual Developmental Disorder, X-Linked 111	Kyphoscoliosis	OMIM:301107
Diamond-Blackfan Anemia 1	11 pairs of ribs, Failure to thrive, Short stature, Absent thumb, Hypoplastic ilia, Short thumb, ...	OMIM:105650
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Asplenia, Nephrocalcinosis, Male hypogonadism, Hypo...	OMIM:240300
Werner Syndrome	Abnormal hair whorl, Premature graying of hair, Thyroid carcinoma, Prematurely aged appearance, S...	ORPHA:902
Fanconi Anemia, Complementation Group O	Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, ...	OMIM:613390
Intellectual Developmental Disorder, Autosomal Recessive 61	Joint laxity, Tapered finger, Long fingers, Talipes equinovarus, Scoliosis, Prominent fingertip p...	OMIM:617773
Trichothiodystrophy 1, Photosensitive	Brittle hair, Sparse hair, Tiger tail banding, Decreased circulating IgG level, Trichoschisis, Sh...	OMIM:601675
3Q27.3 Microdeletion Syndrome	Arachnodactyly, Kyphoscoliosis	ORPHA:397695
Hidrotic Ectodermal Dysplasia	Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p...	ORPHA:189
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy...	OMIM:617925
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Acanthosis nigricans, Hepa...	ORPHA:79084
Mpi-Cdg	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic...	ORPHA:79319
Short Syndrome	Telecanthus, Prominent superficial veins, Small for gestational age, Rieger anomaly, Insulin-resi...	OMIM:269880
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis, Palmoplantar hyperkeratosis, Sparse lateral eyebrow	ORPHA:363523
Fg Syndrome Type 1	Finger syndactyly, Broad toe, Hypospadias, Premature birth, Facial wrinkling, Optic nerve hypopla...	ORPHA:93932
Basan Syndrome	Single transverse palmar crease, Tapered finger, Cutaneous syndactyly of toes, Palmoplantar kerat...	OMIM:129200
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Pes planus, Single transverse palmar crease, Broad thumb, Scoliosis, Clinodactyly of the 5th fing...	ORPHA:329224
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Short stature, Kyphosis, Hip dislocation, Joint hyperflexibilit...	ORPHA:96169
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, ...	OMIM:616723
Myasthenic Syndrome, Congenital, 25, Presynaptic	Kyphosis, Scoliosis, Spinal rigidity	OMIM:618323
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Oligomenorrhea, Acanthosis nigricans, ...	OMIM:613877
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Pes planus, Arachnodactyly, Craniosyno...	OMIM:616914
15Q Overgrowth Syndrome	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnoda...	ORPHA:314585
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Pancytopenia, Portal hypertension, Retinal telangiectasia, Premature graying of hair, Growth dela...	OMIM:617341
Monosomy 18P	Short stature, Kyphoscoliosis, Micrognathia, Short neck, Brachydactyly	ORPHA:1598
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-gluta...	ORPHA:53035
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Prolidase Deficiency	Arachnodactyly, Micrognathia, Genu valgum, Reduced bone mineral density, Palmoplantar keratoderma...	ORPHA:742
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Short stature, Acne, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypo...	ORPHA:247768
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
3-Methylglutaconic Aciduria, Type V	Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate aminotransferase concen...	OMIM:610198
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Micrognathia, Absent frontal sinuses, Sh...	OMIM:102500
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku...	ORPHA:1452
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Irregula...	OMIM:615238
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:615486
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septa...	OMIM:613404
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Short metatarsal, Renal cyst, Hepatic fibrosis, Nephronophthis...	OMIM:266920
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic...	OMIM:618955
Myoclonic-Astatic Epilepsy	Syndactyly, Frontal balding, Wide nasal bridge, Microphthalmia, Premature skin wrinkling	ORPHA:1942
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hepatitis, Skin ulcer, Hyperkeratosis, Onycholysis, Pte...	ORPHA:525
Palmoplantar Keratoderma And Congenital Alopecia 2	Alopecia totalis, Camptodactyly of finger, Amniotic constriction ring, Palmoplantar hyperkeratosi...	OMIM:212360
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Leukodystrophy, Hypomyelinating, 10	Failure to thrive, Arachnodactyly	OMIM:616420
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis...	ORPHA:199299
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Limb undergrowth, Intrauterine growth...	OMIM:618005
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, Ri...	OMIM:307800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Epicanthus, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy...	OMIM:610199
Bainbridge-Ropers Syndrome	Pes planus, Arachnodactyly, Scoliosis	ORPHA:352577
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Oligohydramnios, Cholestasis, Hepatosplenomegal...	ORPHA:541423
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Cirrho...	ORPHA:363400
Tatton-Brown-Rahman Syndrome	Kyphoscoliosis, Proportionate short stature, Short toe, Obesity, Widely spaced toes, Joint hyperm...	ORPHA:404443
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly, Recurrent respiratory infections, Large for gestational age	ORPHA:2432
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Microphthalmia, Syndromic 13	Short stature, Kyphoscoliosis	OMIM:300915
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Short neck, Flattened epiphysis, Genu valgum, Polydactyly, ...	OMIM:607131
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Wide nasal ...	OMIM:264470
Pierpont Syndrome	Telecanthus, Small for gestational age, Cryptorchidism, Abnormal subcutaneous fat tissue distribu...	ORPHA:487825
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Severe short stature, Micromelia, Micrognathia, Equin...	OMIM:224400
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo...	ORPHA:822
Joubert Syndrome 37	Hepatomegaly, Short stature, Postaxial polydactyly, Cryptorchidism, Obesity, Wide nasal bridge, H...	OMIM:619185
Acrokeratosis Verruciformis	Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Ridged nail, Acrokeratosis	OMIM:101900
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Micrognathia	ORPHA:1129
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Short neck, Flexion contractu...	OMIM:618947
Ichthyosis, Congenital, Autosomal Recessive 13	Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis	OMIM:617574
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Scoliosis	OMIM:617087
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Abnormality of the wrist, Ost...	ORPHA:198
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm...	ORPHA:140
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Osteoporosis, Femoral bowing, Platyspondyl...	OMIM:126550
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Loeys-Dietz Syndrome 4	Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Joint hyperflexibility, Talipes eq...	OMIM:614816
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir...	OMIM:251880
19P13.12 Microdeletion Syndrome	Hepatic steatosis, Epicanthus, Finger syndactyly, Hypospadias, Toe clinodactyly, Sandal gap, Atri...	ORPHA:254346
Microcephaly-Microcornea Syndrome, Seemanova Type	Epicanthus, Short stature, Upslanted palpebral fissure, Growth delay, Hypogonadism, Microphthalmia	ORPHA:2528
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Cerebrocostomandibular Syndrome	11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality...	ORPHA:3035
Ehlers-Danlos Syndrome, Periodontal Type, 1	Joint laxity, Arachnodactyly, Generalized joint laxity, Scoliosis, Palmoplantar cutis laxa	OMIM:130080
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Sacral dimple, Overlapping toe, Down-sloping shoulders, Short stature, Tapered finger, Short neck...	OMIM:617452
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1	Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ...	OMIM:613000
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Abnormality o...	ORPHA:3121
Tarp Syndrome	Extramedullary hematopoiesis, Atrial septal defect, Finger syndactyly, Cryptorchidism, Wide nasal...	ORPHA:2886
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Premature rupture of membranes, Hepatic fibrosis, Vesi...	OMIM:301068
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Venous insufficiency, Retinopathy, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:743
Monosomy 18Q	Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Kyphoscoliosis, Tapered finger, Shor...	ORPHA:1600
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Micrognathia, Coxa valg...	ORPHA:263508
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Coxa valga, Long fingers, Flexion contracture, Limb undergrowth	OMIM:608149
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse p...	OMIM:110100
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil...	OMIM:119800
Macrophage Activation Syndrome	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:158061
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
9Q31.1Q31.3 Microdeletion Syndrome	Short stature, Cervical kyphosis, Short neck, Tapered finger, Overweight, Small hand, Short clavi...	ORPHA:401923
Chung-Jansen Syndrome	Micrognathia, Tapered finger, Obesity, Hip dysplasia, Clinodactyly of the 5th finger, Joint hyper...	OMIM:617991
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Aplasia/Hypoplasia of toe...	ORPHA:3082
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Myopathy, Centronuclear, X-Linked	Flexion contracture, Arachnodactyly, Slender toe	OMIM:310400
Acromesomelic Dysplasia 4	Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi...	OMIM:619636
Autoimmune Lymphoproliferative Syndrome	Hydrops fetalis, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocyto...	ORPHA:3261
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Congenital hip dislocation, Femur fracture, Single transverse palmar crease, Ulnar...	OMIM:618291
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Porokeratosis Of Mibelli	Hyperkeratosis, Cutaneous photosensitivity, Porokeratosis	ORPHA:735
Dermatoleukodystrophy	Large hands, Thickened skin, Premature skin wrinkling, Progeroid facial appearance	OMIM:221790
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Marden-Walker Syndrome	Severe short stature, Arachnodactyly, Camptodactyly of finger, Talipes, Micrognathia, Metatarsus ...	ORPHA:2461
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Elevated circulating alanine amino...	OMIM:618805
Adams-Oliver Syndrome 6	Syndactyly, Cutis marmorata, Ventricular septal defect, Portal hypertension, Hypoplastic toenails...	OMIM:616589
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular...	OMIM:600002
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lympho...	OMIM:619991
Gombo Syndrome	Abnormal heart morphology, Radial deviation of finger, Delayed puberty, Microphthalmia, Clinodact...	OMIM:233270
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Short stature, Camptodactyly of finger, Abnormality of the hum...	ORPHA:3138
Glass Syndrome	Arachnodactyly, Anterior tibial bowing, Short stature, Micrognathia, Talipes equinovarus, Camptod...	OMIM:612313
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:600081
Allan-Herndon-Dudley Syndrome	Pes planus, Short stature, Small for gestational age, Kyphoscoliosis, Failure to thrive in infanc...	ORPHA:59
Monosomy 13Q34	Hepatic steatosis, Epicanthus, Metrorrhagia, Hypercalcemia, Fetal pyelectasis, Postaxial hand pol...	ORPHA:96168
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger	OMIM:618367
Intellectual Developmental Disorder With Seizures And Language Delay	Tapered finger	OMIM:619000
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Short ...	OMIM:614921
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin...	ORPHA:33110
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Pes planus, Congenital hip dislocation, Arachnodactyly, Congenital kyphoscoliosis, Ab...	ORPHA:536545
Cockayne Syndrome	Dry hair, Urinary incontinence, Hepatomegaly, Cryptorchidism, Renal hypoplasia, Nephrotic syndrom...	ORPHA:191
Panner Disease	Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar...	ORPHA:97336
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Short stature, Craniosynostosis, Irregular carpal...	OMIM:252600
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia...	OMIM:304790
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Premature birth, Cardi...	ORPHA:858
Palmoplantar Keratoderma, Norrbotten Recessive Type	Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections	OMIM:244850
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Short stature, Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic...	ORPHA:163654
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Triphalangeal thumb, Clino...	ORPHA:84
Cofs Syndrome	Short stature, Camptodactyly of finger, Wide nasal bridge, Hypogonadism, Microphthalmia, Cutaneou...	ORPHA:1466
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e...	ORPHA:1809
Alg9-Cdg	Abnormal lung lobation, Hydrops fetalis, Right ventricular dilatation, Abnormal left ventricular ...	ORPHA:79328
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Multiple pul...	OMIM:619418
Costello Syndrome	Redundant skin, Polyhydramnios, Hypoplastic toenails, Acanthosis nigricans, Deep-set nails, Short...	ORPHA:3071
Xp22.13P22.2 Duplication Syndrome	Short stature, Short neck, Tapered finger, Small hand, 2-3 toe syndactyly, Truncal obesity, Scoli...	ORPHA:284180
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Failure to thrive, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbumine...	OMIM:602579
Bethlem Myopathy 2	Kyphosis, Scoliosis	OMIM:616471
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Poikiloderma With Neutropenia	Elevated circulating creatine kinase concentration, Leukopenia, Conjunctivitis, Neutropenia, Shor...	OMIM:604173
Auriculoosteodysplasia	Short stature, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius, Abnormal metac...	ORPHA:114
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Prematurely aged appearance, Cryptorchidism, Dry sk...	ORPHA:2617
Hyperkeratosis-Hyperpigmentation Syndrome	Hyperkeratosis, Cutaneous photosensitivity	ORPHA:1336
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cac...	ORPHA:298
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Abnormal circulating lip...	ORPHA:829
Galactosemia I	Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Hypertriglyceridemia, Hyperc...	ORPHA:363618
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Short palm,...	OMIM:305400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypothyroidism, Hepatic ste...	ORPHA:79259
Gand Syndrome	Long toe, Long fingers	OMIM:615074
Warburg Micro Syndrome 3	Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexion contracture, Ankle clonus, Cl...	OMIM:614222
Gracile Syndrome	Increased serum pyruvate, Increased circulating ferritin concentration, Cholestasis, Aminoaciduri...	OMIM:603358
Baraitser-Winter Syndrome 1	Epicanthus, Short stature, Bicuspid aortic valve, Highly arched eyebrow, Postnatal growth retarda...	OMIM:243310
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Farber Disease	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ...	ORPHA:333
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Plantar pits, Irregular os...	OMIM:109400
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Arachnodactyly, Abnormal hip bone morphology, Reduced bone mineral density	ORPHA:2720
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Rhizomelic arm shortening, Brachydactyly	ORPHA:508542
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Tapered finger, ...	OMIM:616801
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Edema of the dorsum of feet, Tapered finger, Flexion contracture, Hyperextensibility at wrists, H...	ORPHA:544503
Congenital Enterovirus Infection	Fetal ascites, Polyhydramnios, Hydrops fetalis, Leukopenia, Hypoalbuminemia, Neutropenia, Infecti...	ORPHA:292
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Hypoplasia of the thymus, Genu varum, Long toe, Absent eyebrow, Al...	OMIM:264090
Oculocerebrofacial Syndrome, Kaufman Type	Arachnodactyly, Long foot, Micrognathia, Growth delay, Failure to thrive	ORPHA:2707
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Galloway-Mowat Syndrome 10	Arachnodactyly	OMIM:619609
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Sparse eyelashes, Aplastic anemia, Pterygium of nails, Nasolacri...	OMIM:224230
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Mitochondrial Complex I Deficiency, Nuclear Type 8	Stiff neck, Kyphoscoliosis	OMIM:618230
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara...	OMIM:602535
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis...	OMIM:612840
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Failure to thrive in...	OMIM:613385
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive	Hyperkeratosis, Fragile skin	OMIM:615028
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Premature birth, Portal h...	ORPHA:567983
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Coxa valga, Absent frontal sinuses, Tapered finger, Kyphosis, Postnatal growth re...	OMIM:301040
Spinocerebellar Ataxia 47	Clinodactyly, Small hand, Short stature, Tapered finger	OMIM:617931
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Arachnodactyly, Micrognathia, Flexion cont...	OMIM:309520
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis	ORPHA:394
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Joint stiffness, Abnormality of the lower limb, Hy...	ORPHA:245
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
Satoyoshi Syndrome	Alopecia, Short metacarpal, Short stature, Brachydactyly, Short metatarsal, Osteolytic defects of...	OMIM:600705
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hyper...	OMIM:615381
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Micrognathia, Preaxial hand...	ORPHA:280
Aceruloplasminemia	Refractory anemia, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Decr...	ORPHA:48818
Ichthyosis Hystrix Of Curth-Macklin	Autoamputation of digits, Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperke...	ORPHA:79503
Palmoplantar Keratoderma, Nagashima Type	Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis	OMIM:615598
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Long palm, Coxa valga, Avascular necrosis of the capital femo...	ORPHA:3342
Johanson-Blizzard Syndrome	Fair hair, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated gamma-glutamyltransferase le...	OMIM:243800
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, C...	ORPHA:251014
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Cyanosis, Bowing of the long bones, Postaxial polydactyly, I...	OMIM:619879
Trichothiodystrophy 3, Photosensitive	Lymphopenia, Brittle hair, Short stature, Increased circulating IgA level, Bilateral cryptorchidi...	OMIM:616395
Mental retardation, x-linked, syndromic, Turner type	Limited elbow extension, Tapered finger	OMIM:300706
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Occipital encephalocele, Hepatomegaly, Multicystic kidney dysplasi...	ORPHA:1454
Recon Progeroid Syndrome	Joint laxity, Short stature, Arachnodactyly, Proximal placement of thumb, Growth delay, Long thumb	OMIM:620370
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Scoliosis	ORPHA:101075
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar...	ORPHA:432
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Occipital encephalocele, Periportal fibrosis, Postaxial polydactyly	OMIM:213010
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Parakeratosis, Absent facial hair, Allergic rhini...	ORPHA:90368
Mehmo Syndrome	Growth delay, Obesity, Talipes equinovarus, Tapered finger	ORPHA:85282
Barber-Say Syndrome	Dermal translucency, Telecanthus, Absent nipple, Sparse eyelashes, Ectropion, Redundant skin, Bra...	OMIM:209885
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Kyphoscoliosis, Clinodactyly of the 5th finger, Cubitus valgus, Brachydactyly	OMIM:620237
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Severe short stature, Micromelia, Bowing of the legs, Hypoplastic ilia, Microgn...	ORPHA:1865
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Pes planus, Arachnodactyly, Hyperlordosis, Large for gestational age, Kyphosis, Lar...	OMIM:617011
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Pde4D Haploinsufficiency Syndrome	Micrognathia, Short metatarsal, Irregular vertebral endplates, Bilateral coxa valga, Short phalan...	ORPHA:439822
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Thoracic scoliosis, Kyphoscoliosis, Micrognathia, Metatarsus adductus, Postnatal gr...	ORPHA:300570
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Short stature, Micrognathia, Short tibia, Adactyly, Broad first ...	ORPHA:2751
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Short stature, Small ...	ORPHA:464306
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ...	OMIM:308230
Episodic Ataxia Type 1	Hand clenching, Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis	ORPHA:37612
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:300510
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Ankle clonus, Delayed menarche, Arachnodactyly, Adducted thumb	ORPHA:412057
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Pes planus, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusio aceta...	OMIM:225400
Wiedemann-Steiner Syndrome	Joint laxity, Pes planus, Sacral dimple, Short stature, Tapered finger, Micrognathia, Contracture...	OMIM:605130
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, Alopecia, Au...	ORPHA:227990
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short met...	OMIM:248800
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Mucopolysaccharidosis Type 4	Bowing of the long bones, Short stature, Coxa valga, Short neck, Hyperlordosis, Kyphosis, Spinal ...	ORPHA:582
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Flexion contracture, Growth delay, Polydactyly, Failure to thrive	ORPHA:17
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Short stature, Micrognathia, Cachexia, Kyphosis, Osteoarthri...	ORPHA:828
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Failure to thrive, Decreased fetal movement, Cryptorchidism, Patent ductus arterios...	OMIM:608104
Mosaic Trisomy 9	Hypoplasia of penis, Polyhydramnios, Micromelia, Asplenia, Abnormal lung lobation, Hydrops fetali...	ORPHA:99776
Orofaciodigital Syndrome I	Dry hair, Hepatic fibrosis, Sparse hair, Syndactyly, Alopecia, Short stature, Myelomeningocele, W...	OMIM:311200
Schopf-Schulz-Passarge Syndrome	Ridged nail, Narrow nail, Thin nail, Poroma, Multiple eyelid margin cysts, Hyperkeratosis, Ectode...	OMIM:224750
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
De Barsy Syndrome	Prominent veins on trunk, Coxa vara, Premature rupture of membranes, Sparse hair, Emphysema, Shor...	ORPHA:2962
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu...	OMIM:238970
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Pes planus, Sandal gap, Short stature, Tapered finger, Small hand, Obesity, Short foot, Clinodactyly	OMIM:618089
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f...	OMIM:210720
Graham Little-Piccardi-Lassueur Syndrome	Sparse scalp hair, Alopecia, Sparse axillary hair, Sparse pubic hair, Perifollicular hyperkeratosis	ORPHA:505
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Congenital alopecia totalis, Sparse eyebrow, Dry skin, Absent pubic hair, Cutis laxa, Hypogonadis...	ORPHA:2269
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Tapered finger, Abnormal toe...	DECIPHER:81
Bainbridge-Ropers Syndrome	Pes planus, Ulnar deviation of the hand, Arachnodactyly, Micrognathia, Growth delay, Contracture ...	OMIM:615485
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Splenomegaly, Leukocytos...	OMIM:259720
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Diarrhea 13	Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Obesity And Hypopigmentation	Red hair, Hepatic steatosis, Hyperinsulinemia, Obesity	OMIM:620195
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leukopenia, Hash...	ORPHA:227982
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Abnormal thumb morphology, Contractures of the large joints, Kyphoscoliosis	ORPHA:324410
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva...	OMIM:256040
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Growth delay, Joint contracture of the 5th finger, Clinodactyly of ...	OMIM:614407
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Entropion...	ORPHA:36426
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Cardiomyopathy, Abnormality of the amnioti...	OMIM:608540
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, E...	ORPHA:169160
Koolen-De Vries Syndrome	Vertebral fusion, Sacral dimple, Short stature, Small for gestational age, Kyphosis, Hypotrophy o...	OMIM:610443
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ectropion, Short stature, Hypertriglycerid...	ORPHA:98907
Ichthyosis, Lamellar, Autosomal Dominant	Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma	OMIM:146750
Epidermolysis Bullosa Simplex 1C, Localized	Hyperkeratosis	OMIM:131800
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Short stature, Recurrent fractures, Micrognathia, ...	ORPHA:2050
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Hypersensitivity pneumonitis, Dacry...	ORPHA:1163
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Short femur, Joint hypermobility, Genu valgum	OMIM:617798
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Tapered finger, Postnatal growth retardation, Hip dysplasia, Talipes equinovarus, Clinodactyly of...	OMIM:617219
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Abnorm...	ORPHA:79239
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure	ORPHA:60
Xylt1-Cdg	Joint laxity, Pes planus, Short stature, Coxa valga, Flared metaphysis, Growth delay, Truncal obe...	ORPHA:370930
Zaki Syndrome	Sacral dimple, Toe syndactyly, Short stature, Micrognathia, Long fingers, Ectrodactyly, Broad dis...	OMIM:619648
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type	Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis	ORPHA:86923
Estrogen Resistance Syndrome	Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific al...	ORPHA:785
Opitz-Kaveggia Syndrome	Prominent fingertip pads, Epicanthus, Syndactyly, Hypospadias, Short stature, Facial wrinkling, B...	OMIM:305450
Fanconi Anemia, Complementation Group I	Short stature, Short neck, Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical ve...	OMIM:609053
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Progeroid facial appearance,...	ORPHA:79086
Dowling-Degos Disease 2	Hyperkeratotic papule, Follicular hyperkeratosis	OMIM:615327
Palmoplantar Keratoderma, Punctate Type Iii	Hyperkeratosis, Acrokeratosis	OMIM:101850
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Polyhydramnios, Secundum atrial septal defect, Conjugated hyperbil...	OMIM:619534
Leukodystrophy, Hypomyelinating, 3	Joint contracture, Failure to thrive, Kyphoscoliosis	OMIM:260600
Dermatoleukodystrophy	Hyperkeratosis, Thickened skin	ORPHA:1659
Palmoplantar Keratoderma-Deafness Syndrome	Hyperkeratosis, Palmoplantar keratoderma	ORPHA:2202
Placental Insufficiency	Abnormal umbilical cord blood vessel morphology, Small for gestational age, Proportionate short s...	ORPHA:439167
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Localized osteoporosis, Cervical spondylosis, Kyphoscoliosis	ORPHA:199354
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Hypoplasia of the radius, Short ...	OMIM:617895
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Prominent fingertip pads, Diabetes mellitus, Recurrent skin infections, Decreased serum iron, Ove...	ORPHA:391372
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Clinodactyly of the 5th finger, Single transverse palmar crease, Kyphoscoliosis	OMIM:620075
Ichthyosis Hystrix, Lambert Type	Hyperkeratosis, Orthokeratotic hyperkeratosis	OMIM:146600
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Hypergranul...	OMIM:615508
Werner Syndrome	Diabetes mellitus, Prematurely aged appearance, Elevated circulating aspartate aminotransferase c...	OMIM:277700
Elastoderma	Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa	ORPHA:228240
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis	ORPHA:85288
8Q24.3 Microdeletion Syndrome	Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, Micromelia, Shor...	ORPHA:508488
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Kyphoscoliosis, Talipes equinovarus, Camptodactyly, Clinodactyly,...	ORPHA:397709
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Peroneal muscle atrophy, Metatarsus adductus, Hyperlo...	OMIM:181405
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Epicanthus, Brittle hair, Prematurely aged appearance, Redun...	ORPHA:2963
Fanconi Anemia, Complementation Group W	Absent thumb, Hypoplasia of the radius, Growth delay, Abnormal radial ray morphology, Intrauterin...	OMIM:617784
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Decreased palmar creases, Cervical kyphosis, Tapered finger, Kyphoscoliosis, C...	ORPHA:2953
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Parakeratosis, Hemolytic anemia, Aplastic anemia, Pa...	ORPHA:398124
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Tapered finger, Generalized joint laxity, Increased body weight, 2-3 toe syndactyly, Clinodactyly...	ORPHA:589905
Neu-Laxova Syndrome 1	Polyhydramnios, Fetal akinesia sequence, Micromelia, Calcaneovalgus deformity, Neonatal death, Pt...	OMIM:256520
Congenital Rubella Syndrome	Hepatomegaly, Atrial septal defect, Short stature, Ventricular septal defect, Skin rash, Splenome...	ORPHA:290
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A...	ORPHA:300298
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short stature, Hypogonadotropic hypogonadism, Prematurely aged appearance, Abnormal distal phalan...	ORPHA:1387
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Congenital Panfollicular Nevus	Hyperkeratosis	ORPHA:139414
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Elevated circulating creatine kinase concentration, Polyhydramnios, Leukopen...	OMIM:301056
Microphthalmia, Syndromic 9	Anophthalmia, Agenesis of pulmonary vessels, Pulmonary artery atresia, Atrial septal defect, Neon...	OMIM:601186
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:615633
Peho-Like Syndrome	Tapered finger	OMIM:617507
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hypospadias, Short stature, Preaxial polydactyly, Obesity, Colobom...	ORPHA:141333
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen...	ORPHA:90796
Restrictive Dermopathy	Ureteral duplication, Premature delivery because of cervical insufficiency or membrane fragility,...	ORPHA:1662
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Osteoarthritis, Shallow orbits, Generalized abnormality of s...	ORPHA:740
Radio-Renal Syndrome	Severe short stature, Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality...	ORPHA:3015
Joubert Syndrome 9	Encephalocele, Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Adams-Oliver Syndrome 4	Cutis marmorata, Ventricular septal defect, Hypoplastic toenails, Patent ductus arteriosus, Short...	OMIM:615297
Q Fever	Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa...	ORPHA:781
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio...	OMIM:212140
Short-Rib Thoracic Dysplasia 12	Polyhydramnios, Bowing of the legs, Short palm, Neonatal death, Patent foramen ovale, Hepatomegal...	OMIM:269860
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Wide nasal brid...	OMIM:615524
Cerebellofaciodental Syndrome	Pes planus, Short stature, Single transverse palmar crease, Tapered finger, Short neck, Shortenin...	OMIM:616202
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis	ORPHA:101078
Spinocerebellar Ataxia, Autosomal Recessive 31	Clinodactyly of the 5th finger, Lumbar kyphoscoliosis, Growth delay, Pes cavus	OMIM:619422
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Pes planus, Genu recurvatum, Tapered finger, Short 3rd toe, Joint hyperflexibility, Short 4th toe	OMIM:618707
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility...	ORPHA:244
Chromosome 10Q22.3-Q23.2 Deletion Syndrome	Arachnodactyly	OMIM:612242
Aase-Smith Syndrome I	Talipes equinovarus, Flexion contracture, Slender finger	OMIM:147800
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati...	OMIM:207900
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Decreased fetal movement, Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy	OMIM:615119
Trichothiodystrophy	Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Conjunctivitis, Neutropenia, Tige...	ORPHA:33364
Congenital Disorder Of Glycosylation, Type Id	Failure to thrive, Long fingers, Flexion contracture, Talipes equinovarus, Arthrogryposis multipl...	OMIM:601110
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Decreased fetal movement...	OMIM:616263
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Redundant neck skin, Polyhydramnios, Abnormally large globe, Abnormality of the uterus, Hypocalce...	ORPHA:1655
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbuminemia, Hypocho...	ORPHA:14
Reticulate Acropigmentation Of Kitamura	Hyperkeratosis	OMIM:615537
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat...	ORPHA:2552
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Long toe, ...	OMIM:615438
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos...	ORPHA:275761
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,...	ORPHA:90793
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Long fingers, Flexion contracture, 2-3 toe syndactyly, Scoliosis	OMIM:218000
Erythrokeratoderma ''En Cocardes''	Hyperkeratosis	ORPHA:315
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300554
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absent pubic hair, Decreased c...	OMIM:614841
Trisomy 13	Atrial septal defect, Anophthalmia, Ventricular septal defect, Abnormal eyelash morphology, Crypt...	ORPHA:3378
Estrogen Resistance	Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin, Acne, Hype...	OMIM:615363
3P25.3 Microdeletion Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postax...	ORPHA:435638
Rhyns Syndrome	Osteopenia, Radial bowing, Short stature, Osteoporosis, Short long bone, Short femoral neck, Brac...	OMIM:602152
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co...	OMIM:268300
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Plantar hyperkeratosis, Hyperkeratosis, Skin fragility with non-scarring blistering, Nail dystrop...	ORPHA:79399
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ...	OMIM:232700
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
20Q13.33 Microdeletion Syndrome	Hallux valgus, Pes planus, Sacral dimple, Small for gestational age, Failure to thrive in infancy...	ORPHA:261311
Ullrich Congenital Muscular Dystrophy 2	Flexion contracture, Joint hypermobility, Kyphoscoliosis	OMIM:616470
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Optic nerve hypopl...	OMIM:300953
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:241530
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Meningocele, Renal cyst...	ORPHA:2031
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Growth dela...	OMIM:617247
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Streak ovary, Premature ovarian insufficiency, Duplicated lacrimal pun...	ORPHA:572333
Gapo Syndrome	Alopecia, Sparse eyelashes, Palpebral edema, Prematurely aged appearance, Dysmenorrhea, Sparse ey...	ORPHA:2067
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Cardiomegaly, Neonatal death, Hepatomegaly, Premature birth, Nonimmune hydrops fe...	OMIM:608013
Ring Chromosome 10 Syndrome	Sandal gap, Cachexia, Micrognathia, Short neck, Tapered finger, Intrauterine growth retardation	ORPHA:1438
Pseudoaminopterin Syndrome	Pes planus, Brachydactyly, Overlapping toe, Single transverse palmar crease, Postaxial polydactyl...	ORPHA:221120
Osteootohepatoenteric Syndrome	Proteinuria, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic steatosi...	OMIM:619377
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:264700
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Short stature, Talipes, Micrognathia, Short neck, Talipes equinovarus, B...	OMIM:300990
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
10Q22.3Q23.3 Microdeletion Syndrome	Microretrognathia, Curved middle phalanx of the 4th toe, Arachnodactyly, Talipes, Joint hyperflex...	ORPHA:276413
X-Linked Intellectual Disability, Stevenson Type	Tapered finger, Obesity, Genu valgum, Large hands, Long foot	ORPHA:85325
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Fair hair, Epicanthus, Premature birth, Cardiomegaly, Conjugated...	OMIM:269920
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kin...	OMIM:201475
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Severe short-limb dwarfism, Primary go...	ORPHA:436182
Leopard Syndrome 3	Curly hair, Short stature, Epidermal hyperkeratosis, Tetralogy of Fallot, Low posterior hairline,...	OMIM:613707
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Absent pubertal growth spurt, Hypoplas...	OMIM:250250
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scolio...	ORPHA:2479
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Pneumonia, Elevated circulating creatine kinase conce...	ORPHA:454836
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Disproportio...	ORPHA:583
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans	OMIM:144150
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi...	OMIM:166220
Primary Biliary Cholangitis	Abnormal circulating lipid concentration, Portal hypertension, Increased circulating IgA level, A...	ORPHA:186
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Kyphoscoliosis, Micrognat...	ORPHA:96170
Angioma Serpiginosum, Autosomal Dominant	Hyperkeratosis	OMIM:106050
Papillomatosis, Confluent And Reticulated	Hyperkeratosis	OMIM:167900
Charcot-Marie-Tooth Disease, Type 4K	Kyphoscoliosis	OMIM:616684
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam...	ORPHA:400
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Congenital contracture, Arachnodactyly, Talipes equinovarus, Micrognathia	OMIM:619036
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Epicanthus, Pancreatic fibrosis, Micromelia, Thickened skin, Postaxial hand polydac...	OMIM:200995
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Ulerythema Ophryogenesis	Acne, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, Contact dermat...	ORPHA:3406
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Small for gestationa...	OMIM:614813
Bone Marrow Failure Syndrome 3	Aplastic anemia, Pancreatic steatosis, Neutropenia, Sparse hair, Short stature, Cryptorchidism, S...	OMIM:617052
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Abnormal ...	ORPHA:314478
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome...	ORPHA:30391
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Knee osteoarthritis, Osteoporosis,...	ORPHA:2848
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Pallor, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Rotor Syndrome	Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem...	ORPHA:3111
Galloway-Mowat Syndrome 3	Short stature, Arachnodactyly, Micrognathia, Hip dislocation, Camptodactyly, Intrauterine growth ...	OMIM:617729
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th...	OMIM:260660
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Short stature, Kyphosis, Osteoporo...	ORPHA:3063
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Single transverse palmar crease, Craniosynostosis, Long fingers, Large...	OMIM:613174
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Severe short stature, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip...	ORPHA:1005
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Redundant neck skin, Short stature, Thick hair, Redundant skin, Postnatal growth retardation, Abn...	ORPHA:357074
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal ...	OMIM:615980
Patent Ductus Venosus	Hyperammonemia, Congenital portosystemic venous shunt, Decreased liver function, Persistent paten...	OMIM:601466
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Congenital hip dislocation, Micrognathia, Long fingers, Hypoplastic coccygeal vertebrae, Bilatera...	OMIM:619512
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Ddost-Cdg	Elevated hepatic transaminase, Failure to thrive, Short stature, Nephrotic range proteinuria, Pri...	ORPHA:300536
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndacty...	OMIM:270400
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Conju...	OMIM:619868
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Large for gestati...	ORPHA:457359
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Kyphosis, Abnormal tibia morphology, Upper limb asymmetry, Scol...	ORPHA:64755
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive...	OMIM:615559
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence o...	ORPHA:476126
Acrogeria	Telangiectasia of the skin, Prematurely aged appearance, Short stature, Small hand, Skin ulcer, F...	ORPHA:2500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Long eyelashes, Microphtha...	ORPHA:48431
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Pes planus, Tapered finger, Small hand, Hip dysplasia, Clinodactyly of the 5th finger	OMIM:618672
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neonatal death, Micropht...	OMIM:613730
6Q16 Microdeletion Syndrome	Long foot, Micrognathia, Obesity, Tapered finger	ORPHA:171829
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Poor wound heali...	ORPHA:2072
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit...	OMIM:617952
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Meckel Syndrome, Type 3	Occipital encephalocele, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ...	OMIM:607361
Galactokinase Deficiency	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Premature ovarian insufficie...	ORPHA:79237
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Limb joint contracture, Short stature, Overlapping toe, Tapered finger, Scoliosis	OMIM:300004
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Abnormal pleura morphology, Splenom...	ORPHA:549
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains...	OMIM:615846
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Familial Infantile Bilateral Striatal Necrosis	Basal ganglia gliosis, Optic atrophy, Astrocytosis	ORPHA:225154
Trichothiodystrophy 4, Nonphotosensitive	Epicanthus, Brittle hair, Sparse eyelashes, Ventricular septal defect, Abnormality of hair textur...	OMIM:234050
Premature Ovarian Failure 6	Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
You-Hoover-Fong Syndrome	Clinodactyly, Kyphoscoliosis, Brachydactyly	OMIM:616954
Cerebrooculofacioskeletal Syndrome 3	Decreased fetal movement, Rocker bottom foot, Talipes equinovarus, Microphthalmia, Cutaneous phot...	OMIM:616570
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Short stature, Small for gestational age, Kyphoscoliosis, Micrognathi...	OMIM:268400
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Obesity, Tapered finger	ORPHA:352530
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Diaphyseal s...	OMIM:259710
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Hypoplast...	OMIM:608836
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Short stature, Obesity, Kyphoscoliosis	ORPHA:3077
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Chromosome 5Q12 Deletion Syndrome	Long toe, Sacral dimple, Short neck, Micrognathia, Long fingers, Postnatal growth retardation, De...	OMIM:615668
White-Sutton Syndrome	Joint laxity, Short stature, Micrognathia, Short neck, Obesity, Hypoplastic cervical vertebrae, B...	OMIM:616364
Leprechaunism	Nephrocalcinosis, Increased circulating renin level, Acanthosis nigricans, Hepatomegaly, Enlarged...	ORPHA:508
Macrocephaly-Intellectual Disability-Autism Syndrome	Penile freckling, Hurthle cell thyroid adenoma, Preaxial hand polydactyly, Thyroid carcinoma, Foo...	ORPHA:210548
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Hyperlordosis, Long fingers, Talipes equinovarus, Pes cavus	ORPHA:169186
Mucopolysaccharidosis, Type Vii	Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking of lumbar vertebr...	OMIM:253220
Borjeson-Forssman-Lehmann Syndrome	Short stature, Tapered finger, Short toe, Joint hyperflexibility, Truncal obesity, Abnormal hip b...	ORPHA:127
Familial Visceral Myopathy	Joint stiffness, Arachnodactyly, Camptodactyly of finger, Micrognathia	ORPHA:2604
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Metaph...	OMIM:156400
Joubert Syndrome 1	Epicanthus, Highly arched eyebrow, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst, O...	OMIM:213300
Chromosome 3Pter-P25 Deletion Syndrome	Sacral dimple, Overlapping toe, Short stature, Postaxial polydactyly, Micrognathia, Tapered finge...	OMIM:613792
Arterial Tortuosity Syndrome	Joint laxity, Arachnodactyly, Micrognathia, Flexion contracture, Scoliosis	OMIM:208050
Familial Osteodysplasia, Anderson Type	Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Bifid femur, A...	ORPHA:2769
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Cutis marmorata, Proteinuria, Splenomegaly, S...	ORPHA:91138
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Acantholysis, Sparse eyebrow, Dilated cardiomyopathy, Palmoplantar hy...	OMIM:605676
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Pontocerebellar Hypoplasia, Type 10	Growth delay, Short neck, Kyphoscoliosis, Tapered finger	OMIM:615803
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Coloboma, Uraciluria, Microphthalmia, Failure to thrive, Reduced dihydropyrimidine ...	OMIM:274270
Roifman Syndrome	Clinodactyly of the 5th finger, Hepatomegaly, Short metacarpal, Premature birth, Short stature, S...	OMIM:616651
Distal Deletion 12Q	Broad hallux, Overlapping toe, Single transverse palmar crease, Micrognathia, Short neck, Wide an...	ORPHA:96149
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho...	ORPHA:99429
Bresek Syndrome	Decreased testicular size, Alopecia, Optic nerve hypoplasia, Cryptorchidism, Postaxial hand polyd...	ORPHA:85284
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Cl...	ORPHA:96148
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Severe short stature, Micromelia, Micrognathia, Short long bone, Talipe...	OMIM:224410
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon...	OMIM:615503
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Macrovesicular hepatic steatosis	OMIM:618234
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Recurrent respiratory infections, Entropion...	ORPHA:537
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Abnormality of the ovary, Decreased testicular size, Ptosis	ORPHA:1875
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve...	ORPHA:247598
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Alopecia, Decreased circulating ceruloplasmin concentration, Short...	OMIM:242150
Coffin-Lowry Syndrome	Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Craniofacial hyp...	ORPHA:192
Pediatric Hepatocellular Carcinoma	Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat...	ORPHA:33402
Meester-Loeys Syndrome	Pes planus, Arachnodactyly, Short stature, Cervical spine instability, Broad distal phalanx of fi...	OMIM:300989
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Scoliosis, Tapered finger	OMIM:618825
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Portal hypertension, Breech presentation, Hepatitis, Cholesta...	ORPHA:440713
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Angioma Serpiginosum, X-Linked	Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair	OMIM:300652
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Abnormal internal genitalia, Postaxial hand polydact...	OMIM:612284
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ...	OMIM:607765
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F...	OMIM:619503
Marfan Syndrome	Osteopenia, Pes planus, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow ...	ORPHA:558
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type	Abnormal foot morphology, Flexion contracture, Decreased body weight, Slender finger, Adducted thumb	OMIM:300243
Pitt-Hopkins Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse p...	OMIM:610954
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Hepatomegaly, Alopecia, Sparse eyelashes, Elevated circulating creatine kinase concentration, Spa...	OMIM:615704
X Small Rings	Joint laxity, Toe syndactyly, Tapered finger, Short neck, Osteoporosis, 2-3 toe syndactyly, Upper...	ORPHA:96201
Kagami-Ogata Syndrome	Kyphoscoliosis, Micrognathia, Short neck, Coxa valga, Large for gestational age, Limitation of jo...	ORPHA:254519
Neonatal Marfan Syndrome	Long toe, Arachnodactyly, Small for gestational age, Micrognathia, Long fingers, Flexion contract...	ORPHA:284979
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Recurrent respiratory infections, Overweight, Cryptorchidism, Follicular hyperkeratosis, Delayed ...	ORPHA:486815
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Reduced subcutaneous adipose tissue, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashe...	OMIM:137940
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Kyphoscoliosis	OMIM:300886
Camurati-Engelmann Disease	Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick...	ORPHA:1328
Lymphedema, Primary, With Myelodysplasia	Long fingers, Tapered finger	OMIM:614038
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Osteomalacia, Recurrent fractures...	OMIM:300009
Down Syndrome	Thickened nuchal skin fold, Epicanthus, Prematurely aged appearance, Sandal gap, Obesity, Decreas...	ORPHA:870
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly	ORPHA:2786
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat...	ORPHA:39812
Tetrasomy 5P	Overlapping toe, Short hallux, Micrognathia, Short neck, Wide anterior fontanel, Long fingers, Po...	ORPHA:3309
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Conjunctival icterus, Increased circulatin...	OMIM:194380
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Thin bony cortex, Recurrent fractures, Bowing of th...	OMIM:277440
Oculocerebrocutaneous Syndrome	Alopecia, Anophthalmia, Cryptorchidism, Orbital encephalocele, Orbital cyst, Eyelid coloboma, Mic...	OMIM:164180
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Clinodactyly,...	OMIM:249000
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Abnormality o...	ORPHA:699
Marfan Syndrome	Pes planus, Medial rotation of the medial malleolus, Arachnodactyly, Protrusio acetabuli, Genu re...	OMIM:154700
Ulnar Agenesis And Endocardial Fibroelastosis	Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Focal Facial Dermal Dysplasia Type Iii	Epicanthus, Sparse lower eyelashes, Redundant skin, Abnormal hair pattern, Highly arched eyebrow,...	ORPHA:1807
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, External genital hypoplasia, Hypergranulosis, Thin nail, Abnormal hair morphology, Shor...	OMIM:242100
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pad...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pad...	ORPHA:363958
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Autosomal Recessive Spastic Paraplegia Type 77	Hip dysplasia, Kyphoscoliosis, Equinovarus deformity	ORPHA:466722
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Long toe, Pes planus, Short stature, Small for gestational age, Postnatal growth retardation, Lon...	OMIM:613355
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Postnatal growth retardation, Short long...	OMIM:619184
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Failure to thrive, Perianal erythema, Short stature, Splenomegaly, Paronychia, Low ...	OMIM:201100
Microphthalmia, Syndromic 3	Vertebral fusion, Short stature, Missing ribs, Postnatal growth retardation, Hemivertebrae, Butte...	OMIM:206900
Lamellar Ichthyosis	Recurrent respiratory infections, Renal insufficiency, Short stature, Chronic otitis media, Lack ...	ORPHA:313
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hy...	ORPHA:281090
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Short stature, Femoral retroversion, Micromelia, Kyphosis, Scoliosis	ORPHA:79107
Congenital Fiber-Type Disproportion Myopathy	Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Microg...	ORPHA:2020
15Q24 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Proximal placement of thumb, Coloboma, Mic...	ORPHA:94065
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Lipoid Proteinosis Of Urbach And Wiethe	Hyperkeratosis, Patchy alopecia, Thickened skin	OMIM:247100
Fanconi Anemia, Complementation Group S	Epicanthus, Short stature, Proximal placement of thumb, Blepharophimosis, Low anterior hairline, ...	OMIM:617883
Dysostosis, Stanescu Type	Bowing of the long bones, Increased bone mineral density, Short stature, Micromelia, Short neck, ...	ORPHA:1798
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderm...	ORPHA:454
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Presynaptic Congenital Myasthenic Syndromes	Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Kyph...	ORPHA:98914
Congenital Myasthenic Syndrome	Microretrognathia, Neuropathic spinal arthropathy, Joint laxity, Congenital hip dislocation, Kyph...	ORPHA:590
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Alopecia, Small scrotum, Telecanthus, Cryptorchidism, Fine hair, Upslanted palpebr...	ORPHA:228390
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Chanarin-Dorfman Syndrome	Hepatomegaly, Alopecia, Congenital nonbullous ichthyosiform erythroderma, Hepatic steatosis, Ectr...	OMIM:275630
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu...	OMIM:614300
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Arima Syndrome	Hepatomegaly, Postaxial foot polydactyly, Proteinuria, Polyuria, Postaxial hand polydactyly, Stag...	OMIM:243910
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Hypospadias, Ventricular septal defect, Postnatal growth retardation, Cryptorchidism,...	ORPHA:494344
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Epicanthus, Telecanthus, Telangiectasia of the skin, Pancytope...	ORPHA:99812
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Short stature, Tapered finger, Micrognathia, Preaxial hand...	OMIM:620072
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mmep Syndrome	Ventricular septal defect, Cryptorchidism, Split foot, Triphalangeal thumb, Microphthalmia	ORPHA:3434
Boomerang Dysplasia	Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Complement Component 4B Deficiency	Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia	OMIM:614379
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Epicanthus, Short stature, Ventricular septal defect, Cryptorchidism, Clinodactyly, B...	ORPHA:369891
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Intrauterine gr...	OMIM:613861
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Ane Syndrome	Multiple joint contractures, Ulnar deviation of the hand, Short stature, Kyphoscoliosis, Delayed ...	ORPHA:157954
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Hypopla...	OMIM:311900
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Increased ci...	ORPHA:766
Developmental And Epileptic Encephalopathy 41	Flexion contracture, Kyphoscoliosis	OMIM:617105
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Obesity, Long hallux, Tapered finger	OMIM:619854
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Brittle hair, Cholangitis, Microvesicular hepati...	OMIM:124000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Syndactyly, Cardiomegaly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratos...	OMIM:613576
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Oculocerebral Hypopigmentation Syndrome, Cross Type	Arachnodactyly, Short stature, Abnormal thumb morphology, Limitation of joint mobility, Growth delay	ORPHA:2719
Fanconi Anemia, Complementation Group P	Short stature, Micrognathia, Absent thumb, Short thumb, Hypoplasia of the radius, Growth delay	OMIM:613951
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp...	ORPHA:289157
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta...	OMIM:619484
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Abnormal lung morphology, Paraproteinemia, Acral ulcerat...	ORPHA:91139
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the o...	OMIM:252500
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Femoral bowing, Short long bone, Talipe...	OMIM:617022
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Short stature, Small for gestational age, Kyphoscoliosis, B...	ORPHA:97360
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Short stature, Kyphosis, Bilateral camptodactyly, Growt...	OMIM:619557
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, ...	ORPHA:436252
Neural Tube Defects, Susceptibility To	Absence of the sacrum, Sacral dimple, Spina bifida occulta, Asymmetry of spinal facet joints	OMIM:182940
Noonan Syndrome With Multiple Lentigines	Abnormal endocardium morphology, Hypospadias, Short stature, Abnormal pulmonary valve morphology,...	ORPHA:500
Jacobsen Syndrome	Clitoral hypoplasia, Eyelid coloboma, Chorioretinal coloboma, Clinodactyly of the 5th finger, Atr...	OMIM:147791
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dens...	OMIM:252930
Mandibulofacial Dysostosis, Guion-Almeida Type	Short stature, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, Slender finger	OMIM:610536
Noonan Syndrome 2	Polyhydramnios, Atrial septal defect, Atrioventricular canal defect, Short stature, Sparse eyebro...	OMIM:605275
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia, Coloboma, Orbital cyst	OMIM:251505
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi...	OMIM:170100
Frontonasal Dysplasia 1	Epicanthus, Brachydactyly, Widow's peak, Postaxial hand polydactyly, Anterior basal encephalocele...	OMIM:136760
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Prominent fingertip pads, Tapered finger	OMIM:615722
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Telecanthus, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortical...	OMIM:231680
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Combined Oxidative Phosphorylation Deficiency 47	Elevated hepatic transaminase, Hepatomegaly, Toe syndactyly, Cryptorchidism, Cone-shaped epiphyse...	OMIM:618958
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash...	ORPHA:572
Noonan Syndrome 10	Curly hair, Epicanthus, Atrial septal defect, Short stature, Mitral stenosis, Ventricular septal ...	OMIM:616564
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Absent testis, Postaxial polydactyly	OMIM:613094
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis, Postnatal growth retardation, Adducted thumb, Cutis laxa, Talipes equi...	OMIM:616603
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ...	OMIM:300755
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Pes planus, Tapered finger, Flexion contracture, Hip dysplasia, Talipes equinovarus...	OMIM:619293
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Acantholysis, 4-5 finger syndactyly, Camptodactyl...	ORPHA:158687
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Sandal gap, Tapered finger, Obesity, Scoliosis, Clinodactyly of the 5th finger	OMIM:618430
Chilblain Lupus	Inflammatory abnormality of the skin, Cutis marmorata, Skin rash, Discoid lupus rash, Skin ulcer,...	ORPHA:90280
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Elevated circulating creati...	ORPHA:228305
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Digital constriction ring, P...	ORPHA:79395
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hepatomegaly, Thickened nuchal skin fold, Redundant neck skin, Ventricular septa...	OMIM:235255
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Pes planus, Broad hallux, Arachnodactyly, Short finger, Cubitus valgus, Homocystinuria	OMIM:601552
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Periodontitis, Skin vesicle, S...	ORPHA:1775
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Short sta...	OMIM:300998
Sjögren-Larsson Syndrome	Short stature, Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin, Inflammatory abnormalit...	ORPHA:816
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Decreased fetal movement, Premature ovarian insufficiency, Short stature, Elevated circulating cr...	OMIM:619518
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Polyhydramnios, Clinodactyly of the 5th finger, Sparse h...	OMIM:115150
Papillon-Lefèvre Syndrome	Palmoplantar keratoderma, Arachnodactyly, Osteolysis, Palmoplantar hyperkeratosis	ORPHA:678
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Dysgammaglobulinemia, Splenomegaly, Growth delay, Hypocalcemia, Ascites, ...	ORPHA:100025
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame...	OMIM:615300
Shukla-Vernon Syndrome	Long fingers, Tapered finger	OMIM:301029
Malan Syndrome	Long fingers, Scoliosis, Coxa valga	OMIM:614753
Naxos Disease	Curly hair, Subungual hyperkeratosis, Right ventricular cardiomyopathy, Abnormal morphology of ri...	OMIM:601214
Tibial Hemimelia	Absent tibia	OMIM:275220
Ichthyosis, Hystrix-Like, With Deafness	Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow...	OMIM:602540
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Tapered finger, Short 3rd toe, Short thumb, Split hand, Intrinsic hand muscle atrophy, Short 4th ...	OMIM:618569
Omenn Syndrome	Hepatomegaly, Alopecia, Eosinophilia, Pneumonia, Splenomegaly, Thickened skin, Leukocytosis, Shor...	ORPHA:39041
Keppen-Lubinsky Syndrome	Progeroid facial appearance, Polyhydramnios, Abnormally large globe, Postnatal growth retardation...	ORPHA:435628
Noonan Syndrome 13	Joint laxity, Pes planus, Overlapping toe, Micrognathia, Metatarsus adductus, Tapered finger, Low...	OMIM:619087
Floating-Harbor Syndrome	11 pairs of ribs, Joint laxity, Brachydactyly, Ivory epiphyses of the distal phalanges of the han...	OMIM:136140
Caroli Syndrome	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho...	ORPHA:480520
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Female infertility, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Hypot...	OMIM:617577
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Retinal dystrophy, Chorioretinal coloboma	ORPHA:231736
Xeroderma Pigmentosum	Conjunctival telangiectasia, Ankyloblepharon, Aminoaciduria, Pterygium, Alopecia, Short stature, ...	ORPHA:910
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Prematurely ...	OMIM:610965
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Bowing of the legs, Hirsutism, Hepatosplenomegaly, Clitoral hypertr...	ORPHA:313855
Ritscher-Schinzel Syndrome 4	Ulnar deviation of the hand, Short stature, Tapered finger, Narrow palm, Hip dislocation, Hip dys...	OMIM:619435
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Epicanthus, Palpebral edema, Metatarsus adductus, ...	OMIM:214110
Ovarian Dysgenesis 5	Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ...	OMIM:617690
Wrinkly Skin Syndrome	Epicanthus, Short stature, Short nail, Redundant skin, Progeroid facial appearance, Cryptorchidis...	OMIM:278250
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Elevated circulating creatine kinase concentration, Cardiomyopathy, Elevated circu...	ORPHA:52430
Cutis Laxa, Autosomal Recessive, Type Iia	Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C...	OMIM:219200
Arthrogryposis And Ectodermal Dysplasia	Short stature, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint contractu...	OMIM:601701
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Flexion contracture, Pes cavus, Scoliosis, Tapered finger	OMIM:616505
Short Syndrome	Alopecia, Diabetes mellitus, Telecanthus, Severe short stature, Wide nasal bridge, Weight loss, H...	ORPHA:3163
Combined Oxidative Phosphorylation Deficiency 32	Joint contracture, Kyphoscoliosis	OMIM:617664
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis	OMIM:620007
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Long fingers, Cutaneous syndactyly, Scoliosis, Overlapping fingers	OMIM:618316
Lipodystrophy, Familial Partial, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Prominent superficial vein...	OMIM:151660
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Long toe, Joint laxity, Micrognathia, Long fingers, Broad distal phalanx of finger, Intrauterine ...	ORPHA:363686
Ehlers-Danlos Syndrome, Classic-Like, 2	Hallux valgus, Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wou...	OMIM:618000
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar...	ORPHA:209919
Degcags Syndrome	Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying o...	OMIM:619488
Netherton Syndrome	Decreased circulating IgG level, Sparse scalp hair, Parakeratosis, Brittle hair, Recurrent respir...	OMIM:256500
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Hyperkeratosis, Hypertrophic cardiomyop...	ORPHA:79279
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Alopecia, Fine hair, Hematuria, Hyperkeratosis, Pulmonary fibro...	ORPHA:1839
Alagille Syndrome 1	Hypoplasia of the ulna, Hemivertebrae, Failure to thrive, Butterfly vertebral arch, Short distal ...	OMIM:118450
Neurooculocardiogenitourinary Syndrome	Epicanthus, Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidis...	OMIM:618652
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Preaxial hand polydactyly, Short ne...	ORPHA:233
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter...	OMIM:307200
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci...	OMIM:214950
Epidermolysis Bullosa Dystrophica, Pretibial	Hyperkeratosis, Nail dystrophy	OMIM:131850
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis	ORPHA:2598
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Acanthosis nigricans, Sparse hair, Decreased adipose tissue arou...	OMIM:606721
Fibrous Dysplasia Of Bone	Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral...	ORPHA:249
Ramon Syndrome	Diabetes mellitus, Telangiectasia of the skin, Hyperkeratosis, Failure to thrive, Generalized hir...	ORPHA:3019
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ...	OMIM:617821
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Overlapping toe, Single transverse palmar crease, Tapered finger, Hip dysplasia, Bilateral talipe...	OMIM:617807
Subaortic Stenosis-Short Stature Syndrome	Epicanthus, Short stature, Acne, Biliary tract abnormality, Obesity, Membranous subvalvular aorti...	ORPHA:3191
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,...	OMIM:608154
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod...	ORPHA:284984
Bartsocas-Papas Syndrome 1	Cicatricial lagophthalmos, Bilateral cryptorchidism, Ectopic kidney, Ankyloblepharon, Pterygium, ...	OMIM:263650
Ablepharon-Macrostomia Syndrome	Redundant skin, Cutaneous finger syndactyly, Clinodactyly of the 5th finger, Sparse hair, Micrope...	OMIM:200110
Srd5A3-Cdg	Elevated hepatic transaminase, Optic disc hypoplasia, Decreased response to growth hormone stimul...	ORPHA:324737
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Pneumonia, Decreas...	ORPHA:1855
Macrocephaly/Autism Syndrome	Hepatomegaly, Epicanthus, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Cut...	OMIM:605309
Fetal Akinesia Deformation Sequence 1	Polyhydramnios, Fetal akinesia sequence, Ulnar deviation of the hand or of fingers of the hand, P...	OMIM:208150
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Ele...	ORPHA:53693
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Pes planus, Single transverse palmar crease, Tapered finger, Prominent crus of helix, Broad palm,...	OMIM:617804
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Hypoplasia of pe...	ORPHA:66634
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi...	ORPHA:175
Melioidosis	Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, Abnormal...	ORPHA:31202
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Parakeratosis, Super...	ORPHA:284426
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ...	ORPHA:521426
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e...	ORPHA:48435
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Finger syndactyly, Single transverse palmar crease, Ankle flexion contracture, Tapered finger, Kn...	ORPHA:435938
Focal Facial Dermal Dysplasia 3, Setleis Type	Epicanthus, Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, ...	OMIM:227260
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Hypoplasia of eyelid, Optic nerve hypoplasia, Short stature, Leukocytosis, Renal hypopl...	OMIM:619321
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Abnormal foot morphology, Fibro...	ORPHA:352540
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Hyperkeratosis, Hypophosphatemia, Iris colob...	ORPHA:2611
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Premature rupture of m...	OMIM:619573
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Gaucher Disease	Elevated circulating C-reactive protein concentration, Osteoarthritis, Hydrops fetalis, Hepatomeg...	ORPHA:355
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Failure to thrive, Ulnar deviation of the 3rd finger, Congenital hip dislocation, Foot joint cont...	ORPHA:456312
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Micrognathia, Kyph...	OMIM:617061
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Sparse scalp hair, Hepatomegaly, Sparse eyelashes, Portal hypertension, Sparse eyebrow, Scarring ...	ORPHA:59303
Cockayne Syndrome A	Dry hair, Ivory epiphyses of the phalanges of the hand, Sparse hair, Micropenis, Hepatomegaly, Pr...	OMIM:216400
Sandhoff Disease	Kyphosis	ORPHA:796
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Short stature, Sandal gap, Highly arched eyebrow, Nail dystrophy, Atrial...	OMIM:300887
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Palmoplantar hyperkeratosis, Chorioretinal coloboma, Sparse hair, Clin...	OMIM:280000
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Micrognathia, Long fingers, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, Sl...	OMIM:618343
Idiopathic Hypereosinophilic Syndrome	Cholangitis, Colitis, Pallor, Neutrophilia, Angioedema, Leukocytosis, Clubbing, Dilated cardiomyo...	ORPHA:3260
Mednik Syndrome	Erythema, Cholestasis, Upslanted palpebral fissure, Growth delay, Hepatic fibrosis, Neonatal deat...	OMIM:609313
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Rickets of th...	ORPHA:289176
Distal Deletion 19P	Long toe, Joint hyperflexibility, Arachnodactyly	ORPHA:96129
Otopalatodigital Syndrome Type 2	Bowing of the long bones, Increased bone mineral density, Failure to thrive, Tarsal synostosis, S...	ORPHA:90652
Myoectodermal Gonadal Dysgenesis Syndrome	Clitoral hypoplasia, Cutaneous finger syndactyly, Scaling skin, Short palm, Accessory spleen, Sho...	OMIM:618419
Seckel Syndrome 7	Severe short stature, Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hyp...	OMIM:614851
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Short stature, Tapered finger, Growth delay, Scoliosis, Camptodactyly, Clinodactyly	OMIM:619576
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Parakeratosis, Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic...	ORPHA:83617
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Ptosis, Hypoplastic fifth toenail, Short stature, Decreased response to growth...	OMIM:615866
Cutis Laxa, Autosomal Recessive, Type Ia	Joint laxity, Arachnodactyly	OMIM:219100
Iniencephaly	Rhizomelia, Rocker bottom foot, Hyperlordosis, Absent vertebra, Talipes equinovarus, Mandibular a...	ORPHA:63259
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Tubulointerstitial nephritis, ...	ORPHA:289390
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second...	OMIM:617565
Trisomy 17P	Short stature, Talipes, Micrognathia, Short neck, Tapered finger, Flexion contracture, Growth del...	ORPHA:261290
Erythrokeratodermia Variabilis Et Progressiva 4	Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker...	OMIM:617526
Hereditary Bullous Dystrophy, Macular Type	Growth delay, Short stature, Short finger, Tapered finger	ORPHA:1867
Cdkl5-Deficiency Disorder	Kyphosis, Scoliosis	ORPHA:505652
Citrullinemia, Type Ii, Neonatal-Onset	Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st...	OMIM:605814
Hurler Syndrome	Hypoplasia of the femoral head, Short stature, Coxa valga, Short neck, Hypoplasia of the odontoid...	OMIM:607014
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Sézary Syndrome	Hepatomegaly, Alopecia, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, ...	ORPHA:3162
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Infectious enceph...	ORPHA:391487
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Hepatomegaly, Alopecia, Brittle hair, Epicanthus, Short stature, Wide nasal bridge, Upslanted pal...	ORPHA:50812
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ...	OMIM:256810
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Short neck, Tapered finger, Obesity, Thoracic kyphosis, Scoliosis	OMIM:620250
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Ap...	OMIM:308240
Cockayne Syndrome B	Dry hair, Ivory epiphyses of the phalanges of the hand, Hypoplasia of the iris, Sparse hair, Micr...	OMIM:133540
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyly, Cryptorchidism, Bilatera...	ORPHA:404440
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Pes planus, Kyphoscoliosis, Hand muscle weakness, Arefle...	ORPHA:99956
Fetal Akinesia Deformation Sequence 4	Kyphosis, Short neck	OMIM:618393
Immunodeficiency 56	Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Bronchiect...	OMIM:615207
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h...	OMIM:269200
Moebius Syndrome	Syndactyly, Epicanthus, Brachydactyly, Hypogonadotropic hypogonadism, Clinodactyly, Split hand, C...	OMIM:157900
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Hand polydactyly, Ab...	ORPHA:2167
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Epicanthus, Short stature, Atrial septal defect, Polyhydramnios, L...	OMIM:607721
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl...	ORPHA:1606
Loeys-Dietz Syndrome 1	Joint laxity, Arachnodactyly, Craniosynostosis, Micrognathia, Postaxial hand polydactyly, Cervica...	OMIM:609192
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Renal tubular ac...	OMIM:614922
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Anophthalmia, Proteinuria, Prog...	ORPHA:90321
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Abnormal pleura morphology, Metatarsus adductus, Splenomegaly, ...	ORPHA:584
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Polyhydramnios, Sparse eyebrow, Wide nasal bridge, Hydrocele testis, ...	OMIM:618810
Lymphatic Malformation 12	Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Pleural thickening, Fetal pericardial e...	OMIM:620014
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Elevated circulating...	ORPHA:99901
Immunodeficiency 102	Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H...	OMIM:301082
Autosomal Recessive Cutis Laxa Type 2A	Thick hair, Progeroid facial appearance, Postnatal growth retardation, Excessive wrinkled skin, I...	ORPHA:357058
Cardiofaciocutaneous Syndrome 3	Curly hair, Short stature, Ventricular septal defect, Hyperkeratosis, Pulmonic stenosis, Atrial s...	OMIM:615279
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Perrault Syndrome 3	Streak ovary, Hypergonadotropic hypogonadism, Short stature, Elevated circulating luteinizing hor...	OMIM:614129
Cutis Laxa, Autosomal Recessive, Type Iiib	Prominent superficial veins, Cryptorchidism, Fine hair, Cutis laxa, Narrow palpebral fissure, Exc...	OMIM:614438
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Joint laxity, Sacral dimple, Short stature, Postaxial polydactyly, Tapered finger, Lower limb asy...	OMIM:300968
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Martsolf Syndrome 1	Osteopathia striata, Low anterior hairline, Finger joint hypermobility, Short palm, Micropenis, A...	OMIM:212720
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnorm...	ORPHA:2636
Meckel Syndrome	Ureteral duplication, Anophthalmia, Asplenia, Urethral atresia, Encephalocele, Accessory spleen, ...	ORPHA:564
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Scoliosis, Camptodactyly, Clinodactyly, Failur...	ORPHA:86309
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral ptosis, Short stature, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral mic...	OMIM:619318
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Progeroid facial appearance, Cryptorchidism, Uveitis, Conjunctivitis,...	ORPHA:90322
Joubert Syndrome 6	Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Chorioretinal coloboma...	OMIM:610688
Epidermolytic Palmoplantar Keratoderma	Abnormal fingernail morphology, Interphalangeal joint contracture of finger, Hypergranulosis, Epi...	ORPHA:2199
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Epicanthus, Very long chain fatty acid accumulation,...	OMIM:261515
Recessive X-Linked Ichthyosis	Hyperkeratosis, Cryptorchidism, Dry skin, Ichthyosis	ORPHA:461
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pes planus, Broad hallux, Tapered finger, Micrognathia, Short thumb, Short neck, Hip dysplasia, B...	OMIM:620224
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Short stature, Splenomegaly, Increased urinary ...	ORPHA:812
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Oculoskeletodental Syndrome	Hepatomegaly, Epicanthus, Small for gestational age, Short stature, Hypercalcemia, Cryptorchidism...	OMIM:618440
Dystrophic Epidermolysis Bullosa Pruriginosa	Hyperkeratosis, Abnormal toenail morphology, Increased circulating IgE level, Nail dystrophy	ORPHA:89843
Zellweger Syndrome	Thickened nuchal skin fold, Hepatomegaly, Failure to thrive, Epicanthus, Hypospadias, Very long c...	ORPHA:912
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Atrial septal defect, Epicanthus, Overlapping fingers, Overlapping toe, Ventricular septal defect...	OMIM:618494
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Low anterior hairline, Prominent fingertip pads, Prematurely aged appearance, Short stature, Tape...	OMIM:619950
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syn...	OMIM:603467
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Patent ductus arteriosus, Decreased retinol-binding protein level, Follicular hyperkeratosis, Com...	OMIM:615147
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency...	ORPHA:589
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Abnormality of the subungual region, Splenic rupture, Clubbin...	ORPHA:335
Loeys-Dietz Syndrome 2	Joint laxity, Syndactyly, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly,...	OMIM:610168
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Overlapping toe, Failure to thrive in infancy, Kyphoscoliosis, Micrognat...	ORPHA:798
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Widow's peak, Upper eye...	OMIM:167730
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:129900
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula...	OMIM:614837
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal eyelid morphology, Abnormal lung lobation, Hypoplasia of the thymus, Abn...	ORPHA:567
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Short stature, Micrognathia, Long fingers, Wide ant...	ORPHA:401973
Incontinentia Pigmenti	Abnormal hand morphology, Uveitis, Abnormal toenail morphology, Spina bifida occulta, Infectious ...	ORPHA:464
Bathing Suit Ichthyosis	Alopecia, Parakeratosis, Autoamputation of digits, Thickened skin, Erythroderma, Palmoplantar hyp...	ORPHA:100976
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Premature birth, Hypercalcemia, Polyhydramnios, Thrombocytopen...	ORPHA:2123
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic acidemia, Epicanthus, Broad hallux, Methylm...	OMIM:614105
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level...	OMIM:619938
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Hyperalaninemia, E...	OMIM:615273
Mandibuloacral Dysplasia Progeroid Syndrome	Palmoplantar hyperkeratosis, Macrovesicular hepatic steatosis, Shallow orbits, Sparse hair, Paten...	OMIM:619127
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Membr...	OMIM:619644
Witteveen-Kolk Syndrome	Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Microretrognathia, Joint...	OMIM:613406
Geleophysic Dysplasia 1	Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Joint stiffness, Shor...	OMIM:231050
Mogs-Cdg	External genital hypoplasia, Polyhydramnios, Cardiomegaly, Atrial septal defect, Decreased circul...	ORPHA:79330
Sifrim-Hitz-Weiss Syndrome	Short stature, Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck...	OMIM:617159
Relapsing Polychondritis	Uveitis, Conjunctivitis, Chondritis, Alopecia, Atelectasis, Hepatitis, Scleritis, Episcleritis, R...	ORPHA:728
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal...	OMIM:618078
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Short stature, Abnormal limb bone morphology, Fine hair, Hyperke...	ORPHA:1573
Mosaic Trisomy 16	Syndactyly, Small for gestational age, Single transverse palmar crease, Short thumb, Short femora...	ORPHA:1708
Ring Chromosome 7 Syndrome	Short stature, Single transverse palmar crease, Prominent crus of helix, Small hand, Genu valgum,...	ORPHA:1449
Developmental And Epileptic Encephalopathy 2	Short foot, Small hand, Scoliosis, Tapered finger	OMIM:300672
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fi...	OMIM:617527
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Sandestig-Stefanova Syndrome	Decreased fetal movement, Epicanthus, Laterally extended eyebrow, Small for gestational age, Rock...	OMIM:618804
Bohring-Opitz Syndrome	Syndactyly, Sacral dimple, Overlapping toe, Ulnar deviation of the wrist, Short stature, Tapered ...	OMIM:605039
C Syndrome	Micromelia, Dislocated radial head, Hepatomegaly, Short metacarpal, Clitoral hypertrophy, Short s...	OMIM:211750
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Scoliosis	ORPHA:99014
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Pes planus, Short stature, Proximal placement of thumb, Micrognathia, Taper...	ORPHA:251071
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina...	OMIM:604292
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Retinal detachment, Congestive heart failure, Arterial rupture, Aortic dissection, Arterial disse...	ORPHA:1900
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis	ORPHA:85317
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hyperkeratosis, Cong...	OMIM:602400
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab...	OMIM:214800
Kaposi Sarcoma	Venous insufficiency, Abnormal retinal morphology	ORPHA:33276
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Hemivertebrae, Ab...	ORPHA:3412
Warburg Micro Syndrome 4	Small scrotum, Short stature, Cryptorchidism, Low anterior hairline, Severe postnatal growth reta...	OMIM:615663
Loeys-Dietz Syndrome	Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Micrognathia, Joint hyperf...	ORPHA:60030
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Epicanthus, Short stature, Postnatal growth retardation, Cryp...	ORPHA:2834
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Pneumothorax, Renal cyst, Nep...	ORPHA:445038
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Polyhydramnios, Sparse hair, Atrial septal defect, Hypothyroidism, Iris coloboma,...	OMIM:620186
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Synophrys, Panhypopituitarism, Chor...	ORPHA:2162
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Otitis media, Hypocholesterolemia, Clinodactyly of the 5...	OMIM:223370
Qazi-Markouizos Syndrome	Delayed ossification of carpal bones, Tapered finger	ORPHA:3010
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose veins, Stroke, Nonart...	OMIM:125310
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Tarsal synostosis, Craniosynostosis, Small for gestational ag...	OMIM:201750
Abruzzo-Erickson Syndrome	Epicanthus, Toe syndactyly, Hypospadias, Short stature, Cryptorchidism, Coronal hypospadias, Shor...	ORPHA:921
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Pes planus, Arachnodactyly, Scoliosis	ORPHA:91387
Incontinentia Pigmenti	Ridged nail, Uveitis, Coarse hair, Pallor, Sparse hair, Atrophic, patchy alopecia, Hypoplasia of ...	OMIM:308300
Kawasaki Disease	Abnormality of nail color, Pericarditis, Proteinuria, Abnormal heart valve morphology, Skin rash,...	ORPHA:2331
Focal Cortical Dysplasia, Type Ii	Astrocytosis	OMIM:607341
Restrictive Dermopathy 1	Limb joint contracture, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Wide anterior fontanel,...	OMIM:275210
Sarcoidosis	Abnormal lung morphology, Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial n...	ORPHA:797
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of t...	ORPHA:2470
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Autosomal Dominant Cutis Laxa	Dermal translucency, Redundant neck skin, Prematurely aged appearance, Redundant skin, Unilateral...	ORPHA:90348
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Kyphoscoliosis	ORPHA:53721
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti...	ORPHA:228308
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Epicanthus, Hyperoxaluria, Wide nasal bridge, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform eryt...	OMIM:242300
Radial-Renal Syndrome	Absent radius, Short stature, Absent thumb	OMIM:179280
Galloway-Mowat Syndrome 1	Short stature, Small for gestational age, Micrognathia, Talipes equinovarus, Camptodactyly, Hand ...	OMIM:251300
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Right ventricular dilatation, Abnormal circulating c...	ORPHA:369840
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Spinal ri...	ORPHA:2062
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Severe short stature, Elevated ci...	OMIM:617253
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated circulating C-r...	OMIM:612852
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Telangiectasia	OMIM:219250
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Joint laxity, Short stature, Thoracolumbar scoliosis, Tap...	ORPHA:480880
Fanconi Anemia, Complementation Group D2	Anemic pallor, Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Mic...	OMIM:227646
Congenital Isolated Acth Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ...	ORPHA:199296
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia, Short stature, Talipes equinovarus, Intrauterine growth retardation	OMIM:616171
Alg12-Cdg	Sandal gap, Ulnar deviation of the wrist, Proximal placement of thumb, Micrognathia, Long fingers...	ORPHA:79324
Micro Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplastic labia minora, Wide nasal bridge, ...	ORPHA:2510
Frontonasal Dysplasia 2	Encephalocele, Telecanthus, Sparse eyelashes, Alopecia totalis, Blepharophimosis, Bilateral crypt...	OMIM:613451
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Baraitser-Winter Syndrome 2	Telecanthus, Short stature, Highly arched eyebrow, Coloboma, Long palpebral fissure, Microphthalm...	OMIM:614583
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Hypoalbuminemia, Hypocalcemia, Emphysema, Hepatic steatosis, Short stature, Portal...	OMIM:613658
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Short stature, Small for gestational age, Progeroid facial appearance, S...	ORPHA:50811
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Abnormal fingernail morphology, Cachexia, Tapered finger, Hypoplastic toe...	ORPHA:2930
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Parakeratosis, Erythema, Dilated cardiomyopathy, Leukonychia, Hyperkeratosis, Palmoplantar kerato...	OMIM:615821
Laron Syndrome	Hypoplasia of penis, Severe short stature, Prematurely aged appearance, Abnormality of the endocr...	ORPHA:633
Hamamy Syndrome	Long toe, Syndactyly, Osteopenia, Down-sloping shoulders, Recurrent fractures, Tapered finger, Mi...	OMIM:611174
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Parakeratosis, Alopecia totalis, Posterior blepharitis, Palmoplantar hy...	OMIM:300918
Fanconi Renotubular Syndrome 3	Aminoaciduria, Elevated circulating creatinine concentration	OMIM:615605
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Short stature, Thrombocytopenia, Premature gray...	ORPHA:3322
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Menometrorrhagia, Renal insufficiency, Thickened skin, Weight loss, Hyp...	ORPHA:79430
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Ichthyosis follicularis, Ectodermal dysplasia, Atrichia, Scaling skin, Periungual erythema, Atria...	OMIM:308205
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Failure to thrive in infancy, Cutis marmorata, Increased circulating interleu...	OMIM:301220
Congenital Arthrogryposis With Anterior Horn Cell Disease	Kyphosis, Scoliosis, Short neck	OMIM:611890
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Anhydramnios, Polydac...	OMIM:613885
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat...	OMIM:188400
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis	ORPHA:319199
Cat-Eye Syndrome	Short stature, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Downslanted palpebral fissu...	ORPHA:195
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Ketonuria, Elevated circulating alanine aminotransferase concentration, L...	OMIM:261680
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Microphthalmia, Cutaneous photosensitivity, Small for gestational age	OMIM:278780
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Cong...	ORPHA:312
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Dicarboxylic aciduria, Elev...	OMIM:212138
Bazex Syndrome	Parakeratosis, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Scaling sk...	ORPHA:166113
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Atrial septa...	OMIM:614866
Klippel-Trénaunay Syndrome	Hepatomegaly, Abnormality of the menstrual cycle, Microcytic anemia, Patent ductus arteriosus, Hy...	ORPHA:90308
Leopard Syndrome 1	Scapular winging, Short stature, Limited elbow movement, Missing ribs, Short neck, Kyphoscoliosis...	OMIM:151100
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Kyphoscoliosis	ORPHA:98805
Woodhouse-Sakati Syndrome	Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone st...	ORPHA:3464
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Multiple Benign Circumferential Skin Creases On Limbs	Epicanthus, Small scrotum, Hypospadias, Short stature, Cryptorchidism, Thickened skin, Abnormalit...	ORPHA:2505
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Keratitis, Facial erythema, Follicu...	OMIM:308800
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Small for gestational age, Kyph...	ORPHA:2044
Wolcott-Rallison Syndrome	Acute hepatic failure, Neonatal insulin-dependent diabetes mellitus, Iron deficiency anemia, Abno...	ORPHA:1667
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Scarring alopecia of scalp, Posterior blepharitis, Patellar...	ORPHA:477
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Scoliosis	OMIM:300861
Premature Aging Syndrome, Penttinen Type	Short palm, Prominent superficial veins, Flexion contracture of finger, Prematurely aged appearan...	OMIM:601812
Nizon-Isidor Syndrome	Prominent fingertip pads, Long fingers, Thoracolumbar kyphosis, Pes planus	OMIM:618872
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Abnormal pulmonary valve morphology, Cryptorc...	ORPHA:1194
Cohen-Gibson Syndrome	Osteopenia, Joint laxity, Coxa valga, Hypoplastic iliac wing, Long fingers, Flexion contracture, ...	OMIM:617561
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Distally placed thumb, Encephalocele, Hypospadias, Short stature, Tapered finger, ...	OMIM:619148
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Short stature, Abnormal fingernail morphology, Skin ulcer, Fine...	ORPHA:1806
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Flexion contracture, Tapered finger	OMIM:613870
Nabais Sa-De Vries Syndrome, Type 2	Clinodactyly of the 5th finger, Micrognathia, Failure to thrive in infancy, Tapered finger	OMIM:618829
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Focal Dermal Hypoplasia	Acute hepatic failure, Hypoplasia of the iris, Chorioretinal coloboma, Abnormality of the nail, I...	ORPHA:2092
Triploidy	Hepatomegaly, Hypoplasia of penis, Finger syndactyly, Hypospadias, Polyhydramnios, Cryptorchidism...	ORPHA:3376
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sparse hair,...	OMIM:607903
Kapur-Toriello Syndrome	Overlapping fingers, Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Patent d...	OMIM:244300
Prolactinoma	Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed p...	ORPHA:2965
Mend Syndrome	Microretrognathia, Sacral dimple, Overlapping toe, Broad hallux, Short stature, Micrognathia, Lon...	OMIM:300960
2P15P16.1 Microdeletion Syndrome	Pes planus, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, G...	ORPHA:261349
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Polyhydramnios, Large for gestati...	OMIM:229850
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Kyphosis, Scoliosis, Short neck	ORPHA:178148
Amed Syndrome, Digenic	Acute myeloid leukemia, Telecanthus, Short stature, Adrenal hypoplasia, Thrombocytopenia, Hypopla...	OMIM:619151
Fanconi-Bickel Syndrome	Hepatocellular carcinoma, Nephrocalcinosis, Nephropathy, Hepatomegaly, Elevated circulating aspar...	ORPHA:2088
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Angular cheilitis, Acantholysis, Punctate palmoplantar hyperkeratosis, Cheilitis, Leukonychia, Hy...	OMIM:616295
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen...	OMIM:619381
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Joint laxity, Arachnodactyly, Generalized joint laxity, Distal arthrogryposis,...	OMIM:601776
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea...	ORPHA:1916
Diaphanospondylodysostosis	Epicanthus, Hypoplastic fingernail, Increased nuchal translucency, Short nose, Disproportionate s...	OMIM:608022
Osteogenesis Imperfecta, Type Xx	Kyphoscoliosis, Multiple prenatal fractures, Disproportionate short-limb short stature, Intrauter...	OMIM:618644
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormality of the liver, Hyp...	ORPHA:85443
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Epidermolysis Bullosa, Lethal Acantholytic	Syndactyly, Sandal gap, Alopecia totalis, Acantholysis, Widely spaced toes, Absent fingernail, Ne...	OMIM:609638
Aredyld Syndrome	Hepatomegaly, Short stature, Cachexia, Splenomegaly, Abnormality of the ureter, Upslanted palpebr...	ORPHA:1133
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent...	ORPHA:540
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Failure to thrive in infancy, Kyphoscoliosis, Absent thumb,...	ORPHA:500150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Pes planus, Vertebral fusion, Overlapping toe, Sacral di...	OMIM:213980
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Hip dislocation, Hip dysplasia, Talipes equinovarus, Camptodactyly, Joint contrac...	OMIM:617403
Mednik Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, In...	ORPHA:171851
Developmental And Epileptic Encephalopathy 80	Micrognathia, Tapered finger, Growth delay, Talipes equinovarus, Triphalangeal thumb, Failure to ...	OMIM:618580
Leprosy	Absent eyebrow, Alopecia, Autoamputation of digits, Abnormality of the spleen, Testicular mass, L...	ORPHA:548
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Syndactyly, Short stature, Anemia of inadequate production, Anisoc...	OMIM:615631
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis	OMIM:618237
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Sex rev...	OMIM:154230
Fanconi Anemia, Complementation Group A	Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Male infertility, Short stature, C...	OMIM:227650
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, Synophrys, Coloboma, Chorioretinal coloboma, Otitis media, ...	OMIM:619475
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Pes planus, Short stature, Rocker bottom foot, Micrognathia, Tapered finger	OMIM:620070
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of alkaline pho...	OMIM:137920
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Chemosis, Generalized abnormality of ...	ORPHA:95455
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinusitis, Atypical or p...	ORPHA:83471
Chromosome 1Q41-Q42 Deletion Syndrome	Short stature, Sandal gap, Supernumerary nipple, Ventricular septal defect, Sparse eyebrow, Crypt...	OMIM:612530
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Plantar hyperkeratosis, Epidermal hyperkeratosis, Sparse eyebrow, Leukony...	OMIM:104100
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Growt...	OMIM:231530
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Epicanthus, Cutis marmorata, Ventricular septal defect, Polydactyly, Microphthalmia, ...	OMIM:602501
Chromosome 9P Deletion Syndrome	Long toe, Pes planus, Sandal gap, Hallux varus, Tapered finger, Micrognathia, Short neck, Dermato...	OMIM:158170
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Immunodeficiency 59 And Hypoglycemia	Short stature, Slender finger, Micrognathia	OMIM:233600
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Micrognathia, Wide anterior fontanel, Lon...	OMIM:617746
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Chemosis, Nephritis, Infe...	ORPHA:73263
Pitt-Hopkins Syndrome	Pes planus, Single transverse palmar crease, Tapered finger, Short neck, Postnatal growth retarda...	ORPHA:2896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Elevated circulating creatine kinase concentration, Low anterior hairline, Coloboma, Left ventric...	OMIM:613153
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Dry skin, Hyp...	ORPHA:238468
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, 4-hydroxyphenylacetic aciduri...	OMIM:617156
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Short stature, Rhizomelia, M...	OMIM:614376
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Micrognathia, Short neck, Long fingers, Hip dislocation, Positional fo...	ORPHA:96092
Adams-Oliver Syndrome 2	Decreased fetal movement, Alopecia, Cutis marmorata, Low anterior hairline, Narrow palpebral fiss...	OMIM:614219
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Very long chain fatty acid accumu...	ORPHA:98908
Psoriasis 14, Pustular	Parakeratosis, Neutrophilia, Psoriasiform dermatitis, Cholangitis, Elevated circulating C-reactiv...	OMIM:614204
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Trisomy 18	Atrial septal defect, Abnormal toenail morphology, Iris coloboma, Short stature, Spina bifida, Cr...	ORPHA:3380
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Heart murmur, Rod-cone dystrophy, Retinal degeneration	ORPHA:166035
Peroxisome Biogenesis Disorder 1A (Zellweger)	Redundant neck skin, Adrenal hypoplasia, Aminoaciduria, Ulnar deviation of the hand or of fingers...	OMIM:214100
Chilton-Okur-Chung Neurodevelopmental Syndrome	Pes planus, Short fourth metatarsal, Short fifth metatarsal, Short stature, Single transverse pal...	OMIM:619841
Cornelia De Lange Syndrome 1	Short stature, Single transverse palmar crease, Proximal placement of thumb, Micromelia, Microgna...	OMIM:122470
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Postnatal growth retardation, Hypoplasia of the radius, P...	OMIM:192350
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Increased circulating free fatt...	OMIM:610768
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Urinary incontinence, Dysuria, Abnormality of the urethra, Polycystic ovaries, Menorrhagia,...	ORPHA:2795
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Portal...	ORPHA:367
Fucosidosis	Cervical platyspondyly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis, Short stature...	OMIM:230000
Intellectual Developmental Disorder, Autosomal Dominant 23	Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis	OMIM:615761
Frontofacionasal Dysplasia	Encephalocele, Telecanthus, Short stature, Blepharophimosis, Upper eyelid coloboma, Limbal dermoi...	ORPHA:1791
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism	ORPHA:745
Hallermann-Streiff Syndrome	Sparse scalp hair, Recurrent respiratory infections, Sparse eyelashes, Small for gestational age,...	OMIM:234100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Unilateral ptosis, Bicuspid aortic valve, Coloboma, Short palm, Clinodactyly of the 5th finger, A...	ORPHA:508498
Ichthyosis, Congenital, Autosomal Recessive 14	Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbullous icht...	OMIM:617571
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma	Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Amnio...	OMIM:601952
Ablepharon Macrostomia Syndrome	Absent eyebrow, Hypoplasia of penis, Ambiguous genitalia, Abnormality of female external genitali...	ORPHA:920
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Brachydactyly, Prematurely aged appearance, Bowing of...	ORPHA:1318
Intellectual Developmental Disorder, Autosomal Dominant 43	Pes planus, Hip dysplasia, Failure to thrive, Tapered finger	OMIM:616977
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Neonatal omphalitis, Leukopenia, Hypoplasia of the thymus, Otitis ...	OMIM:612541
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Atrial septal defect, Ventricular septal defect...	ORPHA:488618
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Bowing of the long bones, Rhizomelia, Ventricular septal defect, Proximal placement of thumb, Wid...	ORPHA:93267
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia	ORPHA:363741
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Short stature, Coloboma, Microphthalmia, Clinodactyly, Iris coloboma, Brachydactyly	OMIM:610023
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm...	ORPHA:2273
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Pes planus, Overlapping toe, Short stature, Kyphoscoliosis, Knee flexion contractur...	OMIM:617402
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Abnormal tibia morphology, Bone cyst,...	ORPHA:363700
Heme Oxygenase 1 Deficiency	Hepatomegaly, Increased circulating interleukin 6 concentration, Hemolytic anemia, Proteinuria, E...	OMIM:614034
Cimdag Syndrome	Cholelithiasis, Microvesicular hepatic steatosis, Hypogonadism, Hepatomegaly	OMIM:619273
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Prominent fingertip pads, Epicanthus, Supernumerary nipple, Sparse eyebrow, Synophrys, Wide nasal...	OMIM:620098
3-Methylglutaconic Aciduria, Type Viib	Decreased fetal movement, Rhizomelia, Polyhydramnios, Recurrent pneumonia, Growth delay, Leukopen...	OMIM:616271
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Pes planus, Short stature, Thoracolumbar kyphoscoliosis, Proximal placement of thumb,...	OMIM:212066
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre...	ORPHA:168558
Radio-Tartaglia Syndrome	Pes planus, Micrognathia, Tapered finger, Obesity, Scoliosis, Pes cavus, Brachydactyly	OMIM:619312
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Single tra...	ORPHA:444072
Fanconi Anemia, Complementation Group C	Anemic pallor, Ectopic kidney, Reticulocytopenia, Neutropenia, Intrauterine growth retardation, S...	OMIM:227645
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Cystathioninuria, Hyperhomocystinemia, Neutropenia, Atrial septal defect, H...	OMIM:277380
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Hypertrophic cardiomyopa...	OMIM:220110
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon...	ORPHA:534
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Bowing of the long bones, Redundant skin, Lack of skin elasticity, E...	OMIM:612940
Zimmermann-Laband Syndrome 3	Kyphosis	OMIM:618658
Fucosidosis	Hepatomegaly, Cardiomegaly, Hypothyroidism, Abnormality of the gallbladder, Vascular skin abnorma...	ORPHA:349
Developmental Delay With Variable Neurologic And Brain Abnormalities	Upslanted palpebral fissure, Camptodactyly, Long palpebral fissure, Microphthalmia, Sparse latera...	OMIM:619694
Beckwith-Wiedemann Syndrome	Ureteral duplication, Redundant skin, Polyhydramnios, Cardiomegaly, Large for gestational age, Su...	ORPHA:116
Lymphatic Malformation 4	Hydrocele testis, Hyperkeratosis, Prominent superficial veins, Toenail dysplasia	OMIM:615907
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Ectopic k...	OMIM:600901
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Decreased response to growth hormone stimulation test, Proximal ...	ORPHA:1896
Toluene Embryopathy	Micrognathia, Short stature, Tapered finger	ORPHA:1920
Genetic Hyperferritinemia Without Iron Overload	Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevated hepatic...	ORPHA:254704
Cat Eye Syndrome	Atrial septal defect, Epicanthus, Short stature, Ventricular septal defect, Absent radius, Patent...	OMIM:115470
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Hallux valgus, Pes planus, Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the p...	OMIM:300967
Irida Syndrome	Decreased circulating copper concentration, Intrahepatic cholestasis, Hyperkeratosis, Pallor, Ich...	ORPHA:209981
Adrenomyodystrophy	Short stature, Primary adrenal insufficiency, Megacystis, Failure to thrive, Hepatic steatosis	ORPHA:977
Nephronophthisis 11	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Hepatic fib...	OMIM:613550
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Lissencephaly 6 With Microcephaly	Single transverse palmar crease, Tapered finger	OMIM:616212
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Cockayne Syndrome Type 3	Optic disc pallor, Retinal atrophy, Retinal dystrophy, Subdural hemorrhage, Retinal hemorrhage, A...	ORPHA:90324
Congenital Myopathy 13	Short stature, Kyphoscoliosis, Micrognathia, Flexion contracture, Bilateral talipes equinovarus, ...	OMIM:255995
Nanophthalmos	Microphthalmia	ORPHA:35612
Atrophoderma Vermiculata	Erythema, Hyperkeratotic papule, Follicular hyperkeratosis	ORPHA:79100
Kinsship Syndrome	Osteopenia, Pes planus, Sacral dimple, Short stature, Single transverse palmar crease, Coxa valga...	OMIM:619297
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Atrial septal defect, Finger syndactyly, Hypospadias, Sparse eyebr...	ORPHA:464738
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Alopecia, Subcutaneous lipoma, Ventricular septal defect, Cryptorchidism, H...	OMIM:613001
X-Linked Intellectual Disability, Pai Type	Intrauterine growth retardation, Tapered finger	ORPHA:85322
Pediatric-Onset Graves Disease	Abnormal eyelid morphology, Thyrotoxicosis with diffuse goiter, Increased circulating T4 concentr...	ORPHA:525731
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Growth delay, Hypocholestero...	ORPHA:71
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Trichohepatoneurodevelopmental Syndrome	Polyhydramnios, Synophrys, Coarse hair, Clinodactyly of the 5th finger, Bilateral coxa valga, Tho...	OMIM:618268
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis	OMIM:614898
Ohdo Syndrome, X-Linked	Epicanthus, Small scrotum, Overlapping toe, Ulnar deviation of the hand, Sparse eyebrow, Cryptorc...	OMIM:300895
Xk Aprosencephaly Syndrome	Abnormal morphology of the radius, Ventricular septal defect, Abnormal external genitalia, Polyhy...	ORPHA:3469
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Hemolytic anemia...	OMIM:618278
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Recurrent respiratory infections, Decreased fetal movement, Autoimmune hemolytic an...	OMIM:618495
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia, ...	ORPHA:543
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:348
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasi...	OMIM:220210
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Joint laxity, Toe syndactyly, Single transverse palmar crease, Micrognathia, Tapered finger, Flex...	OMIM:619720
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Epicanthus, Increased circulating lactate dehydrogenase concentr...	OMIM:611881
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Growth delay, Scoliosis, Camptodactyly, ...	OMIM:601353
Hypomelanosis Of Ito	Kyphosis, Scoliosis	OMIM:300337
Olmsted Syndrome 1	Subungual hyperkeratosis, Parakeratosis, Autoamputation of digits, Hyperparakeratosis, Periorific...	OMIM:614594
Peho Syndrome	Edema of the dorsum of feet, Tapered finger	OMIM:260565
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Decreased serum creatinine	OMIM:300539
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar...	ORPHA:624
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Peters-Plus Syndrome	Hypoplasia of the vagina, Ureteral duplication, Bilobate gallbladder, Polyhydramnios, Proximal pl...	OMIM:261540
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Recur...	ORPHA:2399
Pmm2-Cdg	Elevated circulating thyroid-stimulating hormone concentration, Hyperplastic labia majora, Hepati...	ORPHA:79318
Ebola Hemorrhagic Fever	Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod...	ORPHA:319218
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Scoliosis	OMIM:618124
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Epicanthus, Toe syndactyly, Short stature, Cryptorchidism, Patent ductus ar...	ORPHA:250989
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Renal cyst, Coloboma, Vesicoureteral reflux, Clinodactyly of the 5th finger, Patent foramen ovale...	OMIM:616975
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ...	OMIM:212050
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurrent upper respir...	OMIM:252900
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Epicanthus, Hypospadias, Ventricular septal defect, Recurrent pneumonia, 2-...	OMIM:616449
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Lumbar hyperlordosis, Overlapping toe, Tapered finger, Long fingers, Wid...	OMIM:618371
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Atrial septal defect, Bilateral fetal pyelectasis, Polyhydramnios, Large for gestat...	OMIM:300868
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Short stature, Progeroid facial appearance, Upslanted palpebral fissure, Patchy alopecia, Broad d...	OMIM:617763
Rubinstein-Taybi Syndrome 1	Premature thelarche, Polyhydramnios, Bilateral cryptorchidism, Low anterior hairline, Papillary c...	OMIM:180849
Cranioectodermal Dysplasia 2	Unilateral ptosis, Cholangitis, Polyhydramnios, Hydrops fetalis, Renal cyst, Ectodermal dysplasia...	OMIM:613610
Temtamy Syndrome	Telecanthus, Brachydactyly, Short toe, Chorioretinal coloboma, Clinodactyly of the 5th finger, Mi...	ORPHA:1777
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul...	OMIM:618329
Tolchin-Le Caignec Syndrome	Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia	OMIM:618971
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Microphthalmia	OMIM:601794
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia, ...	OMIM:601076
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Leukocytosi...	ORPHA:20
Chromosome 17Q12 Deletion Syndrome	Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Short stature, Highly arched eyeb...	OMIM:614527
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Neoplasm of the lung, Weight l...	ORPHA:1332
Noonan Syndrome 1	Short stature, Failure to thrive in infancy, Kyphoscoliosis, Micrognathia, Short neck, Postnatal ...	OMIM:163950
Warburg Micro Syndrome 2	Small scrotum, Overlapping toe, Clinodactyly of the 5th toe, Postnatal growth retardation, Crypto...	OMIM:614225
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Vertebral fusion, Short stature, Short toe, 2-3 toe syndactyl...	OMIM:139210
Joubert Syndrome 14	Encephalocele, Epicanthus, Ventricular septal defect, Highly arched eyebrow, Postaxial polydactyl...	OMIM:614424
Acrokeratosis Verruciformis Of Hopf	Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Leukonychia, ...	ORPHA:79151
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen...	ORPHA:79124
3Q29 Microdeletion Syndrome	Tapered finger, Joint hyperflexibility, Six lumbar vertebrae, Clinodactyly of the 5th finger, Fai...	ORPHA:65286
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Redundant skin, Elevated circulating creatine kinase ...	ORPHA:904
Ichthyosis Prematurity Syndrome	Premature birth, Allergic rhinitis, Polyhydramnios, Caseous vernix-like desquamation, Dermatograp...	OMIM:608649
Mevalonic Aciduria	Failure to thrive, Short stature, Failure to thrive in infancy, Kyphoscoliosis	OMIM:610377
Autosomal Recessive Spastic Paraplegia Type 9B	Growth delay, Short stature, Kyphoscoliosis, Absent Achilles reflex	ORPHA:447760
Dowling-Degos Disease	Abnormal fingernail morphology, Penile freckling, Hyperkeratosis, Arthritis, Scrotal hyperpigment...	ORPHA:79145
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Tapered finger, Hyperlordosis, Hip dislocation, Obesity, Genu valgum, Hip dysplasia, ...	OMIM:301066
Woodhouse-Sakati Syndrome	Alopecia, Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypergonad...	OMIM:241080
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Pes planus, Short stature, Kyphoscoliosis, Tapered finger, Micrognathia, Short neck, Obesity, Tal...	OMIM:309580
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Hematur...	ORPHA:319251
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Oroticaciduria, Hepatitis, Hypera...	ORPHA:415
Trichothiodystrophy 7, Nonphotosensitive	Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat...	OMIM:618546
Rauch-Steindl Syndrome	Hepatomegaly, Epicanthus, Telecanthus, Short stature, Highly arched eyebrow, Almond-shaped palpeb...	OMIM:619695
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr...	ORPHA:1304
Sporadic Creutzfeldt-Jakob Disease	Gliosis, Astrocytosis	ORPHA:204
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Tapered finger, Scoliosis, Broad thumb, Bilateral single transverse palm...	ORPHA:1236
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Multicystic kidney dysplasia, Diabetes mellitus...	ORPHA:93111
Refsum Disease	Renal insufficiency, Short metacarpal, Splenomegaly, Cardiomyopathy, Hammertoe, Nail dysplasia, I...	ORPHA:773
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Short stature, Tapered finger, Short thumb, Clinodactyly of the 5th finger, Abnormal vertebral mo...	OMIM:616728
Pseudotrisomy 13 Syndrome	Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Cryptorchidism, Posta...	OMIM:264480
Mucopolysaccharidosis, Type Ii	Hepatomegaly, Decreased iduronate sulfatase level, Ptosis, Short stature, Severe short stature, A...	OMIM:309900
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Epicanthus, Premature birth, Short stature, Polyhydramnio...	OMIM:618541
Iron Overload, Susceptibility To	Increased circulating ferritin concentration, Elevated transferrin saturation, Elevated circulati...	OMIM:620121
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Sacral dimple, Hyperextensibility at elbow, Rhizomelia, Short sta...	ORPHA:319182
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Chime Syndrome	Short palm, Sparse hair, Aplasia/Hypoplasia of the phalanges of the hand, Skin ulcer, Acute leuke...	ORPHA:3474
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,...	OMIM:226990
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Hallux valgus, Thumb contracture, Duplication of distal phalanx of toe, Tapered finger, Duplicati...	ORPHA:324540
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development	Erythema, Growth delay, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythro...	OMIM:614457
Chromosome 16P13.3 Duplication Syndrome	Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Micro...	OMIM:613458
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Absent eyelashes, Abnormal ...	ORPHA:861
Galloway-Mowat Syndrome 4	Short stature, Tapered finger	OMIM:617730
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Failure to thrive in infancy, Equinus calcaneus, Cholestasis, Cardiomyopathy,...	ORPHA:746
Loeys-Dietz Syndrome 3	Joint laxity, Pes planus, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, ...	OMIM:613795
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Thrombocytopenia, Growth delay, Neutropenia, Microphthalmia, Leukemia,...	OMIM:614082
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Telecanthus, Sparse eyelashes, Short stature, Fifth finger distal phalanx clinodactyl...	OMIM:257850
Hartsfield Syndrome	Encephalocele, Telecanthus, Split hand, Aplasia/Hypoplasia of the radius, Microphthalmia, Intraut...	ORPHA:2117
Leukocyte Adhesion Deficiency Type Ii	Severe periodontitis, Microcytic anemia, Low anterior hairline, Skin vesicle, Abnormal isohemaggl...	ORPHA:99843
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Ankle flexion contracture, Tapered finger, Kyphosis...	ORPHA:464311
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Laterally curved eyebrow, Atrial septal defect, Contr...	OMIM:300166
Olmsted Syndrome 2	Parakeratosis, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperkeratosis, P...	OMIM:619208
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Rhizomelia, Short stature, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphysea...	ORPHA:163966
Radial Aplasia, X-Linked	Absent radius	OMIM:312190
Cryoglobulinemia, Familial Mixed	Elevated circulating creatinine concentration	OMIM:123550
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Small for gestational age, Tapered finger, Micrognathia, Talipes equinovarus, Short palm, Broad t...	OMIM:614501
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Pallor, Male hypogonadism, Hypert...	ORPHA:91347
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Scoliosis	OMIM:300676
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Hepatomegaly, Respiratory tract infection, Hepatosplenomegaly, Telangiec...	ORPHA:93400
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Plantar hyperkeratosis, Short nail, Hypergranulosis, Th...	OMIM:257980
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Diaphyseal sclerosis, Hepatosplenomegaly, Distal ren...	OMIM:259730
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Polyhydramnios, Patent ductus arterios...	ORPHA:2547
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Follicular hyperkeratosis, Bitot spots of the conjunctiva	OMIM:277350
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Broad hallux, Urinary incontinence, Patent ductus arteriosus, 2-3 toe syndactyly, Joi...	OMIM:619934
Ichthyosis, Annular Epidermolytic, 1	Abnormal hair morphology, Erythema, Hyperparakeratosis, Palmoplantar hyperkeratosis, Congenital b...	OMIM:607602
Huriez Syndrome	Congenital palmoplantar hyperkeratosis, Tapered finger	OMIM:181600
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Astrocytosis	OMIM:600795
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu...	OMIM:613102
Pachydermoperiostosis	Abnormal hair quantity, Hepatomegaly, Osteomyelitis, Abnormal fingernail morphology, Acne, Abnorm...	ORPHA:2796
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Tapered finger, Spinal rigidity, Flexion contracture, Growth delay, Pectoralis hypo...	OMIM:254940
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Abnormal eyelid morphology, Scaling skin, Atrial septal defect, Abnormal toenail mo...	ORPHA:2526
Lipoid Proteinosis	Recurrent respiratory infections, Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp	ORPHA:530
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Venous insufficiency, Congestive heart failure, Arteriovenous malformation	ORPHA:137608
Split Cord Malformation	Back pain, Pes planus, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Lower l...	ORPHA:573278
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem...	OMIM:619525
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Mcdonough Syndrome	Kyphosis, Scoliosis	ORPHA:2471
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cystinosis, Nephropathic	Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hy...	OMIM:219800
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thickene...	OMIM:603554
Hurler-Scheie Syndrome	Recurrent respiratory infections, Hepatomegaly, Short stature, Camptodactyly of finger, Heparan s...	OMIM:607015
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Down-sloping shoulders, Tapered finger, Clinodactyly	OMIM:615560
Immunodeficiency 7	Hepatomegaly, Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidi...	OMIM:615387
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Gonadal calcification, Increased circulating surfactant prot...	ORPHA:60025
Proteus-Like Syndrome	Venous insufficiency, Retinal detachment	ORPHA:2969
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Lopes-Maciel-Rodan Syndrome	Kyphosis, Scoliosis	OMIM:617435
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Pre...	ORPHA:79477
Mixed Connective Tissue Disease	Hepatomegaly, Alopecia, Hemolytic anemia, Pericarditis, Myositis, Skin rash, Gastritis, Splenomeg...	ORPHA:809
Viss Syndrome	Long toe, Microretrognathia, Pes planus, Joint laxity, Arachnodactyly, Rocker bottom foot, Joint ...	OMIM:619472
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Ptosis, Intrahepatic cholestasis with episodic jaund...	ORPHA:100085
Lysinuric Protein Intolerance	Leukopenia, Aminoaciduria, Sparse hair, Hepatomegaly, Short stature, Anemia, Stage 5 chronic kidn...	OMIM:222700
Optic Atrophy-Intellectual Disability Syndrome	Short stature, Tapered finger	ORPHA:401777
Vulvovaginal Gingival Syndrome	Ridged nail, Parakeratosis, Erythema, Abnormality of female external genitalia, Abnormality of tu...	ORPHA:83453
Hallermann-Streiff Syndrome	Alopecia, Telecanthus, Sparse eyelashes, Proportionate short stature, Abnormality of hair texture...	ORPHA:2108
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Intellectual Developmental Disorder, Autosomal Dominant 26	Kyphosis, Scoliosis	OMIM:615834
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Atrial septal defect, Small scrotum, Proteinuria, Postnatal growth retardation, Cryptorchidism, R...	ORPHA:2728
Charge Syndrome	Bifid scrotum, Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Eyelid coloboma, Choriore...	ORPHA:138
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck	ORPHA:2522
Coffin-Siris Syndrome 12	Joint laxity, Short stature, Micrognathia, Short thumb, Slender finger, Cutaneous syndactyly, Rad...	OMIM:619325
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Small for gestatio...	ORPHA:404454
Vascular Ehlers-Danlos Syndrome	Redundant skin, Osteoarthritis, Periodontitis, Uterine rupture, Alopecia, Hypospadias, Prematurel...	ORPHA:286
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Decreased liver function, Cirrhos...	OMIM:613280
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir...	ORPHA:263455
Epidermolytic Hyperkeratosis 2	Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato...	OMIM:620150
Ichthyosis, Congenital, Autosomal Recessive 10	Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General...	OMIM:615024
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Failure to thrive, Sparse eyelashes, Hypospadias, Short stature, Sparse eyebrow, Unilateral micro...	OMIM:618874
Pachyonychia Congenita	Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyp...	ORPHA:2309
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Short thumb, Patent ductus arteriosus, 2-3 toe syndactyly, Flexion contrac...	ORPHA:2712
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Hyphema, Remnants of the hyaloid vascular system, Retinal fold	OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Decreased adipose tissue around neck, Prominent superficial veins, Proger...	OMIM:608612
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Ptosis	ORPHA:1473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Retinal detachment, Remnants of the hyaloid vascular system, Retinal dysp...	OMIM:614643
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Kyphosis, Flexion contr...	ORPHA:3042
Aymé-Gripp Syndrome	Short stature, Rocker bottom foot, Craniosynostosis, Tapered finger, Postnatal growth retardation...	ORPHA:1272
Proteus Syndrome	Neoplasm of the thymus, Abnormal lung lobation, Abnormal finger morphology, Renal cyst, Chorioret...	ORPHA:744
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Chromomycosis	Keratitis, Abnormal lung morphology, Hyperparakeratosis, Hyperkeratosis, Keratoconjunctivitis sic...	ORPHA:182
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia, Ankyloblepharon	ORPHA:85275
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Micrognathia, Long fingers, Distal arthrogryposis, Patellar dislocatio...	OMIM:617557
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula...	ORPHA:436159
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Neuropathy, Hereditary Sensory, Type If	Hallux valgus, Osteomyelitis, Osteolytic defects of the phalanges of the hand, Hyperkeratosis, Me...	OMIM:615632
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dilated c...	OMIM:611126
Iga Pemphigus	Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Aca...	ORPHA:555905
Harlequin Ichthyosis	Recurrent respiratory infections, Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythrod...	ORPHA:457
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Short stature, Atrial septal defect, Microphthalmia, Intrauterine growth...	ORPHA:1915
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hallux valgus, Pes planus, Joint laxity, Kyphoscoliosis, Synostosis involving the 1st metacarpal,...	ORPHA:466791
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Prematurely aged appearance, Short stature, Progeroid facial appearance, Ab...	ORPHA:90154
Kleefstra Syndrome Due To A Point Mutation	Short stature, Large for gestational age, Tapered finger, Tracheomalacia, Failure to thrive	ORPHA:261652
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmop...	OMIM:148700
Amelo-Onycho-Hypohidrotic Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry...	ORPHA:1028
Autism Spectrum Disorder Due To Auts2 Deficiency	Kyphosis, Scoliosis	ORPHA:352490
Lissencephaly 8	Microphthalmia, Occipital encephalocele, Talipes equinovarus, Elevated circulating creatine kinas...	OMIM:617255
Congenital Macroglossia	Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Lymphopenia, Aplasia of the thymus, Eosinophilia, Pneumonia, Gen...	OMIM:602450
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Sclerodactyly, Ovotestis, Orthoke...	OMIM:610644
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased HDL cholesterol concentration, Hyp...	ORPHA:412
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Epicanthus, Short stature, Overlapping toe, Wide nasal bridge, Abnormal heart morphology, Narrow ...	OMIM:618571
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Ma...	OMIM:609049
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Pes planus, Single tran...	OMIM:303600
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Aplasia/Hypoplasia of the lens, Short stature, Ventricular septal de...	ORPHA:85194
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Down-sloping shoulders, Short neck, Micrognathia, Long fingers, 2-3 toe cutaneous syndactyly	OMIM:301091
Sirenomelia	Absence of the sacrum, Aplasia/Hypoplasia of the radius, Sirenomelia	ORPHA:3169
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Polyhydramnios, Large for gestational age, ...	ORPHA:254534
Teebi-Shaltout Syndrome	Syndactyly, Telecanthus, Ureteral stenosis, Slow-growing hair, Short stature, Highly arched eyebr...	OMIM:272950
Nanophthalmos 4	Microphthalmia	OMIM:615972
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Poor wound healing, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis	ORPHA:36386
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Temtamy Syndrome	Highly arched eyebrow, Short 2nd toe, Talipes equinovarus, Chorioretinal coloboma, Microphthalmia...	OMIM:218340
Orofaciodigital Syndrome Type 4	Finger syndactyly, Severe short stature, Camptodactyly of finger, Micromelia, Micrognathia, Preax...	ORPHA:2753
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:611638
Hydrolethalus	Anophthalmia, Premature birth, Polyhydramnios, Micromelia, Cryptorchidism, Postaxial hand polydac...	ORPHA:2189
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi...	ORPHA:77259
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal lactate dehydrogenase level, Abnormal...	ORPHA:899
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Short stature, Anisocytosis, Abnormal erythrocyte morphology, Incr...	ORPHA:98870
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Kyphosis, Scoliosis	OMIM:619797
Behavioral Variant Of Frontotemporal Dementia	Astrocytosis	ORPHA:275864
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Pes planus, Kyphoscoliosis, Atlantoaxial instability, Talipes equinovarus	OMIM:614557
Cutis Laxa, Autosomal Recessive, Type Ib	Arachnodactyly, Joint hypermobility, Micrognathia	OMIM:614437
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Acne, Unilateral renal agenesis, Increased circulating dehydroepiand...	OMIM:158330
Takenouchi-Kosaki Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Scoliosis, Camptodactyly, Clinodactyly	OMIM:616737
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short toe, Delayed ossification of carpal bones, Short distal phalanx of finger, Tapered finger	OMIM:239300
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, M...	OMIM:611134
Ichthyosis, Congenital, Autosomal Recessive 6	Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Generalized ...	OMIM:612281
Peeling Skin Syndrome 5	Hyperkeratosis, Scaling skin	OMIM:617115
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Scoliosis	OMIM:614409
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormality of the spleen, Abnormal lung lobation, Abnormal finger morphology, Atri...	ORPHA:2538
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Obesity, Tapered finger	OMIM:619680
Autosomal Dominant Spastic Paraplegia Type 10	Varicose veins, Rod-cone dystrophy	ORPHA:100991
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red...	OMIM:266200
Pseudoxanthoma Elasticum	Thickened nuchal skin fold, Abnormal endocardium morphology, Telangiectasia of the skin, Acne, Sk...	ORPHA:758
Atypical Progressive Supranuclear Palsy Syndrome	Kyphoscoliosis	ORPHA:99750
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating IgG level, Abnormal T cell cou...	ORPHA:331206
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele, Coloboma	ORPHA:324416
Fryns Syndrome	Thickened nuchal skin fold, Multicystic kidney dysplasia, Hypospadias, Polyhydramnios, Cryptorchi...	ORPHA:2059
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Thrombocytopenia, Unilateral microphthalmos, Failure to thrive, Anemia	OMIM:615085
Inherited Creutzfeldt-Jakob Disease	Stroke-like episode, Astrocytosis	ORPHA:282166
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Single transverse palmar crease, Tapered finger	OMIM:612949
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Epicanthus, Urethrovaginal fistula, Micromelia, Cryptorchidism, Congenital h...	ORPHA:93271
Gracile Bone Dysplasia	Failure to thrive, Short stature, Asplenia, Flared metaphysis, Micropenis, Hypocalcemia, Aniridia...	OMIM:602361
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Joint stiffness, Kyphoscoliosis, Micrognathia	OMIM:618820
Osteoporosis-Pseudoglioma Syndrome	Short stature, Isosexual precocious puberty, Metaphyseal widening, Abnormal femoral neck/head mor...	ORPHA:2788
Joubert Syndrome 22	Postaxial hand polydactyly, Renal hypoplasia, 2-3 toe syndactyly, Postaxial foot polydactyly, Col...	OMIM:615665
Developmental And Epileptic Encephalopathy 1	Growth delay, Microphthalmia, Micropenis	OMIM:308350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Elevated circulating creatine kinase concentration, Cardiomyopathy	OMIM:613155
Wolf-Hirschhorn Syndrome	Hyperconvex fingernails, Atrial septal defect, Iris coloboma, Accessory spleen, Hypospadias, Shor...	OMIM:194190
Peeling Skin Syndrome 4	Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ichthyosis, Orthokeratosis	OMIM:607936
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Tapered finge...	OMIM:200990
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Cryptorchidi...	ORPHA:568
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Epicanthus, Redundant neck skin, Overlapping toe, Polyhydramnios, Postnatal growth reta...	ORPHA:254528
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra...	OMIM:613095
Peters Plus Syndrome	Ureteral duplication, Polyhydramnios, Micromelia, Bicuspid pulmonary valve, Clitoral hypoplasia, ...	ORPHA:709
Mucoepithelial Dysplasia, Hereditary	Alopecia, Eosinophilia, Pneumonia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous cand...	OMIM:158310
Gonadoblastoma	Gonadal dysgenesis with female appearance, male, Female external genitalia in individual with 46,...	ORPHA:206484
Deeah Syndrome	Hepatomegaly, Epicanthus, Decreased hemoglobin concentration, Short stature, Decreased response t...	OMIM:619004
Limb-Mammary Syndrome	Aplasia of the ovary, Clinodactyly of the 5th finger, Syndactyly, Alopecia, Psoriasiform dermatit...	ORPHA:69085
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Conjunctival hyperemia, Cellular urinary casts, Jaundice, ...	ORPHA:509
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula...	OMIM:614842
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Anophthalmia, Proximal placement of thumb, Cryptorchidism, Postaxial foot poly...	ORPHA:139471
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Hyperlordosis	ORPHA:3085
Sepsis In Premature Infants	Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen...	ORPHA:90051
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Astrocytosis	OMIM:611087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Kyphosis	OMIM:618138
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Abs...	OMIM:148210
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Ectopic kidney, Gonadotropin defici...	ORPHA:672
Noonan Syndrome	Abnormal hair quantity, Hepatomegaly, Thickened nuchal skin fold, Brachydactyly, Hypogonadotropic...	ORPHA:648
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac...	OMIM:224120
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Short stature, Craniosynostosis, Tapered finger, Micrognathia, Small for gestati...	OMIM:309590
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph...	OMIM:158000
Warty Dyskeratoma	Abnormal fingernail morphology, Acrokeratosis, Acantholysis, Epidermal thickening, Abnormal labia...	ORPHA:69745
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased hemoglobin concentration, Highly arched eyebrow, Cryptorchidism, Thromboc...	OMIM:619005
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Skin Creases, Congenital Symmetric Circumferential, 1	Long fingers, Short neck, Micrognathia	OMIM:156610
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma	OMIM:600251
Parkes Weber Syndrome	Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V...	ORPHA:90307
Erythrokeratodermia Variabilis Et Progressiva 3	Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis	OMIM:617525
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Short neck, Craniosyno...	OMIM:608156
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Failure to thrive, Epicanthus, Toe syndactyly, Intrahepatic ch...	ORPHA:46059
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Abnormal circulating selenium concentration, Decreased serum iron, Del...	ORPHA:89842
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Milroy Disease	Epicanthus, Erysipelas, Hydrocele testis, Hyperkeratosis, Toenail dysplasia	ORPHA:79452
Congenital Myopathy 17	Overlapping toe, Failure to thrive in infancy, Tapered finger, Distal arthrogryposis, Hand clench...	OMIM:618975
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	1-2 toe syndactyly, Broad hallux, Talipes, Tapered finger, Small hand, Short foot, Growth delay, ...	OMIM:301044
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:607155
Cataract 9, Multiple Types	Microphthalmia, Iris coloboma	OMIM:604219
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ...	OMIM:615356
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Polyhydramnios, Hepatoblastoma, Clinodactyly of the 5t...	ORPHA:373
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Iris coloboma	OMIM:610092
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Abnormal eyelid morphology, Epispadias, Abnormal fallopian tube morphology, Abnorma...	ORPHA:2556
Acute Disseminated Encephalomyelitis	Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis	ORPHA:83597
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Epicanthus, Short metacarpal, Cryptorchidism, Wide nasal bridge, Growth delay, Campto...	OMIM:614230
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Short stature, Progeroid faci...	ORPHA:90153
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, 2-3 toe syndactyly, Obesity, Scoliosis, Tibial torsion	OMIM:618653
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Pes planus, Broad hallux, Sandal gap, Short stature, Tapered finger, Hyperlordosis,...	OMIM:615873
Familial Benign Copper Deficiency	Aplasia/Hypoplasia of the fovea, Short stature, Decreased circulating copper concentration, Acne,...	ORPHA:1551
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re...	OMIM:603194
Fabry Disease	Conjunctival telangiectasia, Abnormal femur morphology, Nephropathy, Emphysema, Short stature, An...	ORPHA:324
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Synophrys, Lacrimal duct atresia, Pri...	OMIM:603457
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula...	OMIM:227810
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Nail dyst...	OMIM:617337
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple	OMIM:618272
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Short stature, Hypoplasia of the radius	ORPHA:140952
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal...	OMIM:601847
7Q11.23 Microduplication Syndrome	Pes planus, Sacral dimple, Short stature, Single transverse palmar crease, Craniosynostosis, Micr...	ORPHA:96121
Ectodermal Dysplasia/Short Stature Syndrome	Short stature, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia	OMIM:616029
Gapo Syndrome	Hepatomegaly, Alopecia, Epicanthus, Sparse eyelashes, Redundant skin, Prominent scalp veins, Spar...	OMIM:230740
Myofibrillar Myopathy 10	Kyphosis	OMIM:619040
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Antecubital pterygium, Renal hypoplasia, Wide nasal brid...	OMIM:616258
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Septo-optic dysplasia, Polyhydramnios, Cryptorchidism, Abnormal lun...	ORPHA:3301
Cutis Laxa, Autosomal Recessive, Type Ic	Redundant skin, Adrenal hypoplasia, Hypoplasia of the thymus, Multiple bladder diverticula, Emphy...	OMIM:613177
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Dry skin, Hyperkeratosis, Scaling skin, Erythroderma, Failure to thrive	OMIM:609180
Alg1-Cdg	Kyphosis, Scoliosis	ORPHA:79327
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Scimitar Syndrome	Left-to-right shunt, Anomalous origin of left coronary artery from the pulmonary artery, Heart bl...	ORPHA:185
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy, Oligohydr...	OMIM:619053
Frank-Ter Haar Syndrome	Kyphosis, Beaking of vertebral bodies, Scoliosis	ORPHA:137834
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Elevated circulating creatine kinase concentrati...	ORPHA:370959
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Ketonuria, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycin...	OMIM:210200
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Hypospadias, Ventricular septal defect, Cryptorchidism, Patent...	ORPHA:77298
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis	ORPHA:77300
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Parakeratosis, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering, Nail dys...	ORPHA:158681
19P13.13 Microdeletion Syndrome	Pes planus, Sandal gap, Long fingers, Deep plantar creases, Clinodactyly	ORPHA:357001
Goldberg-Shprintzen Syndrome	Short neck, Tapered finger, Increased femoral anteversion, Small hand, Clinodactyly of the 5th fi...	OMIM:609460
Alpha-Mannosidosis	Kyphosis, Scoliosis, Short neck	ORPHA:61
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Micrognathia, Small hand, Obesity, Fibular hypoplasia, Hypoplasia of proximal radi...	ORPHA:444077
Renpenning Syndrome 1	Brittle hair, Coloboma, Atrial septal defect, Clinodactyly of the 5th finger, Sparse hair, Hyposp...	OMIM:309500
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Hepatomegaly, Short stature, Hemolytic anemia, Splenomegaly, Jaundice, ...	OMIM:263700
Crisponi Syndrome	Kyphosis, Scoliosis	ORPHA:1545
Familial Chylomicronemia Syndrome	Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlip...	ORPHA:444490
Focal Dermal Hypoplasia	Ridged nail, Ureteral duplication, Brittle hair, Anophthalmia, Osteopathia striata, Short metatar...	OMIM:305600
Robinow Syndrome, Autosomal Dominant 1	Broad toe, Brachydactyly, Limited elbow extension and supination, Rhizomelia, Sacral dimple, Shor...	OMIM:180700
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Lens coloboma, Renal hypoplasia, 2-3 toe syndactyly, Umbilical hernia, Joint contract...	OMIM:618914
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest...	ORPHA:26793
Craniofacial Microsomia 1	Block vertebrae, Micrognathia, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, ...	OMIM:164210
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Patent ductus arteriosus, Supravalvar pulmonary stenosis...	OMIM:620185
Peho Syndrome	Tapered finger, Limitation of joint mobility, Flexion contracture, Pedal edema, Arthrogryposis mu...	ORPHA:2836
Mandibuloacral Dysplasia With Type A Lipodystrophy	Reduced subcutaneous adipose tissue, Sparse scalp hair, Alopecia, Hepatomegaly, Calcinosis, Coxa ...	OMIM:248370
Lichen Planus Pemphigoides	Hyperkeratosis, Conjunctivitis, Skin vesicle, Blepharitis, Abnormality of the nail	ORPHA:254478
Seckel Syndrome 2	Small for gestational age, Hypospadias, Short stature, Ectopic kidney, Growth delay, Clinodactyly...	OMIM:606744
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Small scrotum, Hypospadias, Short stature, Tapered finger, Cryptorchidism, Synophrys,...	OMIM:616734
Pemphigus Vulgaris	Urticaria, Recurrent cutaneous abscess formation, Weight loss, Acantholysis	ORPHA:704
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Kyphosis, Scoliosis	ORPHA:464282
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropenis, Mesocardia, Pe...	OMIM:618280
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a...	OMIM:600376
Congenital Varicella Syndrome	Microphthalmia, Micromelia, Intrauterine growth retardation	ORPHA:291
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat...	OMIM:602347
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Polyhydramnios, Synophrys, Atrial septal defect, Microphthalmia	ORPHA:261272
Palmoplantar Carcinoma, Multiple Self-Healing	Parakeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke...	OMIM:615225
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Tapered toe, Large for gestational age, Tapered finger, Clinodactyly of the 5th fi...	ORPHA:544488
Basilar Impression, Primary	Kyphoscoliosis, Short neck	OMIM:109500
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Lymphopenia, Hypertriglyceridemia, Myositis, Sinusit...	OMIM:617591
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Ullrich Congenital Muscular Dystrophy 1	Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of fingers, Recurrent lower resp...	OMIM:254090
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Hypoplastic fingernail, Neonatal insulin-dependent diabetes mellitus, Ventricular s...	ORPHA:96191
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Epicanthus, Absent platelet dense granules, Chronic oral candidiasis, Albinism, Dec...	OMIM:608233
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Thickened nuchal skin fold, Ketonuria, Hypospadias, Small for gestational age, Highly arched eyeb...	OMIM:220111
Chromosome 15Q25 Deletion Syndrome	Short stature, Short neck, Long fingers, Growth delay, Intrauterine growth retardation	OMIM:614294
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Anophthalmia, Abnormal lung lobation, Urethral atresia, Malfo...	ORPHA:2052
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Increased circulating androstenedi...	OMIM:202010
De Sanctis-Cacchione Syndrome	Parakeratosis, Entropion, Severe short stature, Bilateral cryptorchidism, Keratitis, Gonadal hypo...	OMIM:278800
4Q21 Microdeletion Syndrome	Kyphosis, Scoliosis, Short neck	ORPHA:238750
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agene...	OMIM:617914
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Short stature, Limb joint contracture, Tapered finger, Flexion contracture, Truncal obesity, Scol...	OMIM:301072
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod...	ORPHA:2311
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Chorioretinal colo...	ORPHA:857
Familial Cerebral Cavernous Malformation	Venous malformation, Choroidal hemangioma, Retinal cavernous angioma, Cerebral hemorrhage	ORPHA:221061
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P...	ORPHA:261537
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Dry skin, Follicular hyperkeratosis	OMIM:617066
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Wide nasal bridge, Upper eyelid coloboma, Microphthalmia	OMIM:613456
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Sialidosis Type 2	Kyphosis	ORPHA:87876
8Q21.11 Microdeletion Syndrome	Finger syndactyly, Epicanthus, Hypoplasia of penis, Camptodactyly of finger, Eczema, Cryptorchidi...	ORPHA:284160
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Recurrent respiratory infecti...	OMIM:614941
Dermatosparaxis Ehlers-Danlos Syndrome	Epicanthus, Severe short stature, Abnormality of subcutaneous fat tissue, Coxa valga, Avascular n...	ORPHA:1901
Monosomy 9P	Epicanthus, Hypospadias, Thin nail, Highly arched eyebrow, Blepharophimosis, Proximal placement o...	ORPHA:261112
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Leukopenia, Lymphocytosis, Neutropenia, He...	ORPHA:50918
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Hy...	ORPHA:2328
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycardia	OMIM:126320
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Short stature, Decrea...	OMIM:614008
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased...	ORPHA:453499
Ichthyosis, Congenital, Autosomal Recessive 3	Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode...	OMIM:606545
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Brachydactyly, Severe short stature, Hypospadias, E...	ORPHA:2658
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Short stature, Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone...	OMIM:617088
Vohwinkel Syndrome, Variant Form	Parakeratosis, Hypergranulosis, Amniotic constriction ring, Honeycomb palmoplantar hyperkeratosis...	OMIM:604117
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Hydrops fetalis, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fancon...	OMIM:557000
Cole Disease	Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ...	OMIM:615522
Pemphigus Foliaceus	Psoriasiform dermatitis, Acantholysis, Pustule, Erythema, Crusting erythematous dermatitis, Scali...	ORPHA:79481
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke...	OMIM:613736
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thromb...	OMIM:102700
Histiocytoid Cardiomyopathy	Hepatomegaly, Cyanosis, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, ...	ORPHA:137675
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Telecanthus, Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnormal hair morpholo...	OMIM:607597
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Short stature, Ventricular septal defect, Ovotestis, Hypoplasia of...	OMIM:309801
Livedoid Vasculopathy	Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficiency, Hypertension, Va...	ORPHA:542643
Frontorhiny	Encephalocele, Epicanthus, Brachydactyly, Camptodactyly of finger, Widow's peak, Finger clinodact...	ORPHA:391474
Von Willebrand Disease	Venous insufficiency	ORPHA:903
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Microretrognathia, Sacral dimple, Toe syndactyly, Single transverse palmar crease, Tapered finger...	ORPHA:459070
Okamoto Syndrome	Redundant neck skin, Urinary incontinence, Abnormally large globe, Primum atrial septal defect, A...	ORPHA:2729
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin ra...	ORPHA:319213
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal...	OMIM:611561
Flynn-Aird Syndrome	Kyphosis, Scoliosis	ORPHA:2047
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis	OMIM:615433
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Interstitial pn...	ORPHA:454831
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom...	OMIM:615688
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Telecanthus, Splenomegaly, W...	ORPHA:163746
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Long fingers, Calcaneovalgus deformity, Abnormality of the palmar creases, Tapered finger	ORPHA:521445
Coffin-Siris Syndrome 1	Dry hair, Ectopic kidney, Prominent interphalangeal joints, Prominent fingertip pads, Clinodactyl...	OMIM:135900
Ovarian Fibroma	Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Pleural effusion, Ascites, ...	ORPHA:314473
Oculodentodigital Dysplasia	Atrial septal defect, Dry hair, Epicanthus, Slow-growing hair, Neurogenic bladder, Blepharophimos...	OMIM:164200
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Premature birth, Abnormalit...	ORPHA:3385
Alkaptonuria	Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral density, Arthritis, ...	ORPHA:56
Williams-Beuren Syndrome	Hallux valgus, Osteopenia, Joint laxity, Short stature, Down-sloping shoulders, Kyphoscoliosis, F...	OMIM:194050
Difference Of Sex Development-Intellectual Disability Syndrome	Kyphosis, Spina bifida occulta, Short neck	ORPHA:2983
Papillorenal Syndrome	Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal corticomedullary diffe...	OMIM:120330
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper...	OMIM:239200
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Polyhydramnios, Cryptorchidi...	ORPHA:2166
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia, Short stature	OMIM:251270
Intellectual Developmental Disorder, Fra12A Type	Hyperkeratosis, Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Postnatal growth retardation, Flexi...	ORPHA:487796
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus...	OMIM:612965
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n...	ORPHA:90062
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Scoliosis	OMIM:609541
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, V...	ORPHA:2152
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Short stature, Preaxial hand polydactyly, Nasolacrimal duct obstruc...	ORPHA:1297
Chromosome 13Q14 Deletion Syndrome	Epicanthus, Overlapping toe, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Gro...	OMIM:613884
Proboscis Lateralis	Anophthalmia, External genital hypoplasia, Abnormal morphology of bony orbit of skull, Eyelid col...	ORPHA:141099
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Parakeratosis, Neurogenic bladder, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin	OMIM:618527
Deafness, X-Linked 7	Telecanthus, Wide nasal bridge, Unilateral microphthalmos, Thick eyebrow, Ptosis	OMIM:301018
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit...	ORPHA:2975
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis	ORPHA:98863
Ichthyosis, Congenital, Autosomal Recessive 9	Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ...	OMIM:615023
Thanatophoric Dysplasia	Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis	ORPHA:2655
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Aspiration pneumonia, Atrial septal defect, Vesicoureteral reflux, Patent ...	ORPHA:438213
Bethlem Myopathy	Camptodactyly of finger, Elevated circulating creatine kinase concentration, Interphalangeal join...	ORPHA:610
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis	ORPHA:171436
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Hypergranulosis, Palmoplantar hyperkeratosis, Neoplasm of the lung, Pa...	ORPHA:79501
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aciduria, ...	OMIM:203700
Atypical Rett Syndrome	Kyphosis, Scoliosis	ORPHA:3095
Zimmermann-Laband Syndrome 1	Hepatomegaly, Thick eyebrow, Hyperextensibility of the finger joints, Thick hair, Highly arched e...	OMIM:135500
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Small f...	OMIM:260400
Porokeratosis 3, Multiple Types	Parakeratosis, Porokeratosis, Nail dystrophy	OMIM:175900
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Epicanthus, Multicystic kidney dysplasia, Short stature, Vaginal neoplasm, ...	ORPHA:1052
Rodrigues Blindness	Short stature, Fine hair, Ectodermal dysplasia, Sparse hair, Microphthalmia	OMIM:268320
Reactive Arthritis	Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Weight loss, Enthesitis, Hyperk...	ORPHA:29207
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormal lung morphology, Epididymitis,...	ORPHA:2035
Infantile Digital Fibromatosis	Hyperkeratosis, Parakeratosis	ORPHA:199267
Familial Idiopathic Dilatation Of The Right Atrium	Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial fibrillation, A...	ORPHA:1677
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Malformed lacrimal duct, Abnormal thymus morpholog...	OMIM:219000
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Renal cyst, Premature graying of hair, Sparse hair, Cl...	OMIM:113620
Scleromyxedema	Aged leonine appearance, Abnormality of thyroid physiology, Elevated circulating creatine kinase ...	ORPHA:167635
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Brachydactyly, Aplasia of the distal phalanx of the 5th toe, Synophrys, Short nose, ...	ORPHA:364577
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98855
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, S...	OMIM:616026
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Cerebrotendinous Xanthomatosis	Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, Abnormal eyel...	ORPHA:909
Wieacker-Wolff Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:314580
Kindler Epidermolysis Bullosa	Urethral stricture, Inflammation of the large intestine, Colitis, Conjunctivitis, Periodontitis, ...	ORPHA:2908
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Hallux valgus, Syndactyly, Long toe, Ulnar deviation of the hand, Broad hallux, Arachnodactyly, P...	ORPHA:261552
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Preaxial hand polydactyly, Optic...	ORPHA:1553
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, Absent eyela...	OMIM:305100
Pruritic Urticarial Papules And Plaques Of Pregnancy	Parakeratosis, Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Eczem...	ORPHA:64745
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Rhizomelia, Short stature, Metaphyseal cupping, Metaphyseal cupping of proximal phalanges, Metaph...	OMIM:300863
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Microphthalmia, Syndromic 1	Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Kyphos...	OMIM:309800
Superficial Epidermolytic Ichthyosis	Ichthyosis, Erythema, Palmoplantar keratoderma, Acantholysis	ORPHA:455
Gjc2-Related Late-Onset Primary Lymphedema	Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ...	ORPHA:568051
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Abnormal metaphysis morphology, Tapered finger	ORPHA:86818
Hyperkeratosis Lenticularis Perstans	Hyperkeratosis lenticularis perstans, Skin ulcer	ORPHA:409
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn...	OMIM:601803
Sickle Cell Disease	Hepatomegaly, Renal insufficiency, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Spleni...	OMIM:603903
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Familial Benign Chronic Pemphigus	Skin vesicle, Hyperkeratosis, Erythema, Acantholysis	ORPHA:2841
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Microretrognathia, Sacral dimple, Talipes equinovarus, Tapered finger	OMIM:613603
Ichthyosis, Congenital, Autosomal Recessive 8	Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis	OMIM:613943
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:615181
Momo Syndrome	Epicanthus, Cutis marmorata, Short stature, Hyperconvex nail, Large for gestational age, Abnormal...	ORPHA:2563
Ehlers-Danlos Syndrome, Vascular Type	Premature delivery because of cervical insufficiency or membrane fragility, Nodular pattern on pu...	OMIM:130050
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Upslanted palpebral fissure, Microphthalmia, Epicanthus, Downslanted palpebral fissures	OMIM:152950
Stevenson-Carey Syndrome	Coloboma, Camptodactyly, Atrial septal defect, Microphthalmia, Downslanted palpebral fissures	OMIM:611961
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Hypoplastic toenails, Biliary atresia, Dextrotranspositio...	OMIM:306955
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar...	OMIM:146255
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Sacral dimple, Short stature, Small for gestational age, Failure to thrive in infa...	ORPHA:268261
Psoriasis 2	Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin	OMIM:602723
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis	ORPHA:500180
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Short stature, Optic nerve hypoplasia, Cryptorchidism,...	OMIM:610125
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Wide nasal bridge, Growth del...	OMIM:616920
Xeroderma Pigmentosum, Complementation Group B	Short stature, Progeroid facial appearance, Hypogonadism, Microphthalmia, Cutaneous photosensitivity	OMIM:610651
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Pes cavus, Proportionate shortening of all digits, Tapered finger, Short neck,...	ORPHA:280633
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis	ORPHA:98853
Curry-Jones Syndrome	Duplication of thumb phalanx, Preaxial hand polydactyly, Lipomyelomeningocele, 2-3 finger syndact...	OMIM:601707
Crimean-Congo Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Increased circulating IgG level, Leukopenia, ...	ORPHA:99827
Seckel Syndrome	Sparse scalp hair, Prematurely aged appearance, Short stature, Cachexia, Sandal gap, Clinodactyly...	ORPHA:808
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidis...	OMIM:618183
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Microphthalmia, Short thumb, Intrauterine growth retardation	OMIM:609054
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Short neck	OMIM:608776
Bohring-Opitz Syndrome	Recurrent respiratory infections, Short stature, Cardiomegaly, Synophrys, Wide nasal bridge, Colo...	ORPHA:97297
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Small hand, Antecubital pterygium, Ankyloblepharon, Popliteal pt...	OMIM:619339
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Anophthalmia, Hypospadias, Rhizomelia, Precocious puberty, 2-3 toe syndactyly, Colobo...	OMIM:615877
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Prominent finger...	OMIM:619539
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly, Downslanted palpebral fissures, Thrombocytopenia	OMIM:619981
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Chapped lip, Short stature, Recurrent skin infections, Recurrent pneumonia, C...	ORPHA:158668
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosi...	OMIM:173200
Aceruloplasminemia	Diabetes mellitus, Decreased serum iron, Increased circulating ferritin concentration, Acerulopla...	OMIM:604290
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Thickened skin, Hyperkeratosis	ORPHA:79431
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas...	ORPHA:963
Thanatophoric Dysplasia Type 2	Kyphosis, Platyspondyly	ORPHA:93274
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas...	ORPHA:314769
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Short stature, Coloboma, Shallow orbits, Clinodactyly of the 5th finger, Microphthalmia, Decrease...	OMIM:617306
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Sever...	OMIM:266810
Classical Ehlers-Danlos Syndrome	Osteoarthritis, Premature rupture of membranes, Ecchymosis, Acrocyanosis, Dislocated radial head,...	ORPHA:287
Neurofibroma	Palmar neurofibroma, Spinal canal stenosis, Kyphoscoliosis	ORPHA:252183
Adams-Oliver Syndrome 1	Encephalocele, Alopecia, Toe syndactyly, Cutis marmorata, Bicuspid aortic valve, Supernumerary ni...	OMIM:100300
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Subacute Cutaneous Lupus Erythematosus	Psoriasiform lesion, Discoid lupus rash, Cheilitis, Malar rash, Hyperkeratosis, Vasculitis in the...	ORPHA:163525
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Optic disc coloboma, Renal cyst, ...	OMIM:608091
Fountain Syndrome	Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:3219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Coloboma, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Ankyloblepharon, Hypoplas...	OMIM:119500
Myasthenic Syndrome, Congenital, 20, Presynaptic	Kyphosis, Scoliosis	OMIM:617143
Kabuki Syndrome	Ptosis, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Short stature, Highly arch...	ORPHA:2322
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ...	OMIM:309000
Aicardi Syndrome	Spina bifida, Proximal placement of thumb, Precocious puberty, Postnatal growth retardation, Opti...	OMIM:304050
Wieacker-Wolff Syndrome, Female-Restricted	Kyphosis, Scoliosis, Short neck	OMIM:301041
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Coloboma, Shallow orbits, Atrial septal defect, Vesicoureteral reflux, Hyp...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Coloboma, Shallow orbits, Atrial septal defect, Vesicoureteral reflux, Hyp...	ORPHA:352665
Progressive Non-Fluent Aphasia	Stroke, Astrocytosis	ORPHA:100070
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Ventricular septal defect, Camptodactyly of toe, Obesity, Wide nasal ...	ORPHA:251038
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology	ORPHA:276280
Phakomatosis Pigmentokeratotica	Spina bifida, Precocious puberty, Cryptorchidism, Unilateral renal hypoplasia, Coloboma, Patchy a...	ORPHA:2874
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Generalized hyperkeratosis, Shor...	ORPHA:201
Currarino Syndrome	Sacrococcygeal teratoma, Aplasia/Hypoplasia of the sacrum, Lower limb asymmetry	ORPHA:1552
Distal 22Q11.2 Microduplication Syndrome	Sacral dimple, Toe syndactyly, Camptodactyly of finger, Micrognathia, Tapered finger, Scoliosis, ...	ORPHA:261337
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis	OMIM:300354
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Ichthyosis, Congenital, Autosomal Recessive 5	Parakeratosis, Acanthocytosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform eryt...	OMIM:604777
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyelashes, Sparse eyebrow, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles, Sparse...	OMIM:224900
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Dec...	OMIM:232220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Elevated circulating creatine kinase concentration, Optic nerve hypoplas...	OMIM:236670
Lymphedema-Distichiasis Syndrome	Ectropion, Ventricular septal defect, Nonimmune hydrops fetalis, Yellow nails, Patent ductus arte...	OMIM:153400
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Erythrokeratodermia Variabilis Et Progressiva 1	Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma	OMIM:133200
Ramon Syndrome	Short stature, Angiokeratoma, Enlarged labia minora, Telangiectasia, Hyperkeratosis, Decreased bo...	OMIM:266270
Ichthyosis, Annular Epidermolytic, 2	Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok...	OMIM:620148
Glucagonoma	Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Increased cir...	ORPHA:97280
Monosomy 9Q22.3	Epicanthus, Ovarian fibroma, Large for gestational age, Cardiac fibroma, Polydactyly, Microphthal...	ORPHA:77301
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Abnormal lung lobation, Renal cyst, Short palm, Hepatoblastoma, Atrial septal def...	OMIM:312870
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Pulmonary artery sling, Supernumerary nipple, Short stature, Ventricu...	OMIM:235730
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Absent thumb, Absent radius, Renal hypoplasia, Wide nasal bridge, Upsl...	OMIM:614083
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Sacroiliac arthritis	OMIM:106300
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Short stature, Single transverse palmar crease, Tapered finger, Short thumb, Short foo...	OMIM:619522
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Short stature, Optic nerve hypoplasia, Decreased body weight, Microphthalmia, Mild short stature	OMIM:614833
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Ectodermal Dysplasia And Immunodeficiency 2	Sparse scalp hair, Hepatomegaly, Recurrent respiratory infections, Anhidrotic ectodermal dysplasi...	OMIM:612132
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Astrocytosis, Cardiomyopathy, Reduced left ventricular ejection fraction, Pulmonary arterial hype...	ORPHA:258
Gaucher Disease Type 3	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Proteinuria, Mitral valve calcifica...	ORPHA:77261
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Bowing of the long bones, Abnormal pulmonary valv...	ORPHA:667
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Severe short stature, Hypospadias, Optic nerve hypoplasia, Unilateral rena...	ORPHA:468631
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery...	ORPHA:71273
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Single coronary artery origin, Abnormal coronary artery morpho...	ORPHA:3384
6Q Terminal Deletion Syndrome	Hallux valgus, Hypospadias, Highly arched eyebrow, Phimosis, Low anterior hairline, Obesity, Hype...	ORPHA:75857
Intellectual Developmental Disorder, Autosomal Dominant 42	Pes planus, Tapered finger, Narrow palm, Growth delay, Hand clenching, Failure to thrive, Limited...	OMIM:616973
Enlarged Parietal Foramina	Abnormal cerebral vein morphology, Venous malformation	ORPHA:60015
Singleton-Merten Syndrome 2	Psoriasiform lesion, Short stature, Aortic valve calcification, Osteolytic defects of the phalang...	OMIM:616298
Mycetoma	Recurrent bacterial skin infections, Prominent superficial veins, Osteomyelitis, Abdominal mass, ...	ORPHA:2583
Aicardi Syndrome	Precocious puberty, Optic disc coloboma, Small hand, Chorioretinal coloboma, Delayed puberty, Hep...	ORPHA:50
Acrokeratoelastoidosis Of Costa	Hypergranulosis, Palmoplantar hyperkeratosis, Granulomatosis, Orthokeratosis, Hyperkeratotic papule	ORPHA:38
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Preaxial polydactyly, Wide ...	OMIM:243605
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Congenital Myopathy 22A, Classic	Kyphosis, Thoracic scoliosis, Scoliosis, Spinal rigidity	OMIM:620351
Ppoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97278
Lateral Meningocele Syndrome	Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:2789
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Broad hallux, Sandal gap, Scarring alopecia of scalp, Clinodactyly, Wide nasal bridge, Microphtha...	OMIM:618727
Pelizaeus-Merzbacher Disease	Kyphosis, Scoliosis	ORPHA:702
Ayme-Gripp Syndrome	Short stature, Tapered finger, Radioulnar synostosis, Camptodactyly, Brachydactyly	OMIM:601088
Pemphigus Erythematosus	Malar rash, Acantholysis	ORPHA:79480
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis	OMIM:603387
Solitary Median Maxillary Central Incisor	Anophthalmia, Cyclopia, Decreased response to growth hormone stimulation test, Short stature, Col...	OMIM:147250
Pachyonychia Congenita 1	Follicular hyperkeratosis, Nail dystrophy, Palmoplantar hyperkeratosis, Onychogryposis	OMIM:167200
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Short stature, Thin long bone diaphyses, Post...	ORPHA:93325
Erythrokeratodermia Variabilis Et Progressiva 6	Parakeratosis, Superficial dermal perivascular inflammatory infiltrate	OMIM:618531
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Synophrys, Prominent fingertip pads, Clinodactyly of the 5th finger, Atria...	OMIM:612474
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Coloboma, Otitis media, Vesicoureteral reflux, Atrial sept...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Coloboma, Otitis media, Vesicoureteral reflux, Atrial sept...	ORPHA:353277
Darier-White Disease	Ridged nail, Acrokeratosis, Acantholysis, Enlargement of parotid gland, Subungual hyperkeratotic ...	OMIM:124200
Chromosome Xp11.3 Deletion Syndrome	Cryptorchidism, Short stature, Progeroid facial appearance	OMIM:300578
Periventricular Nodular Heterotopia 9	Single transverse palmar crease, Tapered finger, Clinodactyly of the 5th finger, Prominent finger...	OMIM:618918
Multiple Endocrine Neoplasia Type 2	Joint laxity, Kyphoscoliosis, Hyperlordosis	ORPHA:653
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Short stature, Long eyebrows, Widow's peak, Wide nasal bridge, Long eyelashes, ...	OMIM:201180
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Redundant skin, Poor wound healing, Progeroid facial appearance, Ven...	OMIM:123700
Otodental Syndrome	Lens coloboma, Retinal coloboma, Periodontitis, Otitis media with effusion, Microphthalmia, Iris ...	ORPHA:2791
Cystic Fibrosis	Male infertility, Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor p...	OMIM:219700
Pelvis-Shoulder Dysplasia	Short stature, Optic disc coloboma, Clinodactyly of the 5th finger, Microphthalmia, Spina bifida ...	OMIM:169550
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hyperkeratosis	OMIM:145250
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system, Retinal hamartoma, Abnormal optic nerve morphology, Epir...	ORPHA:637
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Telecanthus, Absent nipple, Ureteral stenosis, Highly arched ey...	ORPHA:1299
Tetragametic Chimerism	Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ...	ORPHA:199310
Peeling Skin Syndrome 6	Parakeratosis, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin	OMIM:618084
Shashi-Pena Syndrome	Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis	OMIM:617190
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Nasolacrimal duct obstruction, Eyelid coloboma, Vaginal atresia, Microphthalmia, Cr...	OMIM:248450
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hyperkeratosis, High anterior hairline, Adrenal insufficiency, Ptosis	OMIM:615510
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Ventricular septal defect, Aplasia of the distal phalanx of the 5th toe, Synophrys, ...	OMIM:608670
Porokeratosis 7, Multiple Types	Parakeratosis, Porokeratosis	OMIM:614714
Porokeratosis 1, Multiple Types	Parakeratosis, Porokeratosis	OMIM:175800
3C Syndrome	Kyphosis, Hemivertebrae, Scoliosis, Short neck	ORPHA:7
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Myocar...	OMIM:253800
Norrie Disease	Retinal detachment, Abnormal chorioretinal morphology, Remnants of the hyaloid vascular system, A...	ORPHA:649
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Clinodactyly of the 5th finger, Short thumb, Brachydactyly, Tapered finger	ORPHA:477993
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cyanosis, Small for gestational age, Premature birth, Cardiomegaly, Pericardial eff...	ORPHA:555874
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Slc39A8-Cdg	Failure to thrive in infancy, Short stature, Abnormal blood zinc concentration, Cutaneous syndact...	ORPHA:468699
Pelger-Huet Anomaly	Kyphosis	OMIM:169400
X-Linked Intellectual Disability Due To Gria3 Mutations	Kyphosis, Scoliosis	ORPHA:364028
Gm1 Gangliosidosis	Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis	ORPHA:354
Lymphedema-Distichiasis Syndrome	Patent ductus arteriosus, Varicose veins, Arrhythmia, Conjunctivitis	ORPHA:33001
Emanuel Syndrome	Kyphosis, Sacral dimple, Scoliosis	OMIM:609029
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Rett Syndrome	Kyphosis, Scoliosis	OMIM:312750
Fraser Syndrome 2	Unilateral renal agenesis, Low anterior hairline, Renal hypoplasia, Cutaneous syndactyly, Uretera...	OMIM:617666
Microphthalmia, Syndromic 6	Finger syndactyly, Failure to thrive, Small scrotum, Female hypogonadism, Anophthalmia, Adrenal h...	OMIM:607932
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Kyphosis, Scoliosis	ORPHA:88628
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Narrow palpebral fissure, Microphthalmia, Iris coloboma, Ptosis	OMIM:615145
Trisomy 20P	Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Platy...	ORPHA:261318
Linear Nevus Sebaceus Syndrome	Alopecia, Telecanthus, Growth delay, Adenoma sebaceum, Microphthalmia, Iris coloboma	ORPHA:2612
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Short stature, Autoimmune thrombocytopenia...	ORPHA:77293
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Prematurely aged appearance, Short stature, Cachexia, Skin rash, Urticaria, Cutaneous photosensit...	ORPHA:220295
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Iridocyclitis, Emphysema, Enlarge...	OMIM:181000
Cole-Carpenter Syndrome 2	Kyphosis, Platyspondyly	OMIM:616294
Pontocerebellar Hypoplasia, Type 17	Kyphosis	OMIM:619909
Alkaptonuria	Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration	OMIM:203500
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Finger syndactyly, Ventricular septal defect, Optic nerve hypoplasia, Polyhydramnio...	OMIM:620025
White Sponge Nevus 2	Hyperparakeratosis	OMIM:615785
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia, Downslanted palpebral fissures, Broad thumb, Brachydactyly	OMIM:614526
Jaberi-Elahi Syndrome	Kyphosis, Scoliosis	OMIM:617988
Frontofacionasal Dysplasia	Telecanthus, Blepharophimosis, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Cra...	OMIM:229400
Autosomal Recessive Ataxia, Beauce Type	Kyphosis, Scoliosis	ORPHA:88644
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Hyperkeratosis, Hammertoe, Cervix cancer	OMIM:620189
Geroderma Osteodysplastica	Growth delay, Severe short stature, Prematurely aged appearance, Redundant skin	ORPHA:2078
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc...	OMIM:130650
Spinocerebellar Ataxia 34	Erythroderma, Epidermal hyperkeratosis	OMIM:133190
Lateral Meningocele Syndrome	Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies	OMIM:130720
Microphthalmia, Isolated 8	Anophthalmia, Entropion, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthal...	OMIM:615113
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Brachydactyly, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's pea...	ORPHA:306542
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney, Hypoplastic toenails, Hydrops fetalis, Eyelid coloboma...	ORPHA:268249
Thauvin-Robinet-Faivre Syndrome	Varicose veins, Retinal coloboma	OMIM:617107
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:219090
Pycnodysostosis	Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis	ORPHA:763
Genitopalatocardiac Syndrome	Kyphosis, Scoliosis	ORPHA:2075
Nance-Horan Syndrome	Microphthalmia, Short metacarpal	ORPHA:627
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermatitis, Septate vagi...	ORPHA:2237
Exstrophy-Epispadias Complex	Bifid scrotum, Renal insufficiency, Urinary incontinence, Spina bifida, Bifid uterus, Cryptorchid...	ORPHA:322
Thymic Carcinoma	Abnormal vena cava morphology	ORPHA:99868
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body	OMIM:618476
Chondrodysplasia Punctata, Autosomal Dominant	Hyperkeratosis with erythema, Moderate postnatal growth retardation, Coarse hair, Talipes equinov...	OMIM:118650
Aspartylglucosaminuria	Recurrent respiratory infections, Hepatomegaly, Aspartylglucosaminuria, Abnormal morphology of ul...	ORPHA:93
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Epicanthus, Abnormality of hair texture, Hypophosphaturia, Thickened skin, Synophrys, Hypoplastic...	ORPHA:73223
Fanconi Anemia, Complementation Group R	Absent thumb, Growth delay, Anemia, Microphthalmia, Pelvic kidney, Radial dysplasia	OMIM:617244
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Scoliosis, Tapered finger	OMIM:619480
Brown-Vialetto-Van Laere Syndrome 1	Kyphosis, Scoliosis	OMIM:211530
Palmoplantar Keratoderma, Punctate Type Ia	Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis	OMIM:148600
Thoracic Outlet Syndrome	Varicose veins	ORPHA:97330
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Oculotrichoanal Syndrome	Anophthalmia, Abnormal hair pattern, Upper eyelid coloboma, Nasolacrimal duct obstruction, Microp...	ORPHA:2717
Xeroderma Pigmentosum, Complementation Group D	Entropion, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia,...	OMIM:278730
Holoprosencephaly 7	Synophrys, Bilateral microphthalmos, Wide nasal bridge, Upslanted palpebral fissure, Shallow orbi...	OMIM:610828
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Scoliosis	OMIM:177850
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Kyphosis, Platyspondyly, Lumbar hyperlordosis	OMIM:616482
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Kyphosis, Scoliosis	OMIM:619951
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Cobblestone-like hype...	ORPHA:90186
Kanzaki Disease	Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ...	OMIM:609242
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Peripheral pulmonary vesse...	OMIM:273395
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Gastrointestinal inflammation, Iron deficiency anemia, Urinary bladder sphinc...	ORPHA:79408
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Transient hypophosphatemia, Severe short stature, Small for gestational age, ...	OMIM:127000
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Chronic pa...	OMIM:232240
X-Linked Intellectual Disability, Cabezas Type	Kyphosis, Scoliosis, Short neck	ORPHA:85293
Seborrhea-Like Dermatitis With Psoriasiform Elements	Hyperkeratosis, Seborrheic dermatitis	OMIM:610227
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Ankyloblepharon	OMIM:611038
Menkes Disease	Gastrointestinal hemorrhage, Venous insufficiency, Arterial stenosis, Intracranial hemorrhage, Ab...	ORPHA:565
H Syndrome	Varicose veins, Abnormal cardiovascular system physiology, Facial telangiectasia	ORPHA:168569
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Bilateral microphthalmos, Upper e...	OMIM:154500
Tyrosinemia Type 2	Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail	ORPHA:28378
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Cardiomyopathy, Abnormal circulating creatine kinase concentration, Abnormal circulating copper c...	ORPHA:521411
Cowden Syndrome 5	Kyphosis, Scoliosis	OMIM:615108
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Chorioretinal coloboma, Triphalangeal thumb, Vesicoureteral refl...	OMIM:107480
Foix-Alajouanine Syndrome	Arteriovenous fistula, Venous malformation	ORPHA:79093
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct atresia, Histiocytoid cardiomyo...	OMIM:300952
Acth-Independent Macronodular Adrenal Hyperplasia	Kyphosis	OMIM:219080
Tylosis With Esophageal Cancer	Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis	OMIM:148500
Mosaic Trisomy 20	Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati...	ORPHA:1724
Pigmented Nodular Adrenocortical Disease, Primary, 2	Kyphosis	OMIM:610475
Liposarcoma	Varicose veins	ORPHA:69078
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Kyphosis, Scoliosis	OMIM:618493
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Progeroid facial appearance, Polyhydramn...	OMIM:614098
Cowden Syndrome 6	Kyphosis, Scoliosis	OMIM:615109
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Short neck, Kyphosis, Prominent protruding coccyx, Prominent coccyx, Scoliosis	OMIM:300966
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Toe clinodactyly	OMIM:620330
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Keratitis, Bilateral microphthalmos, Coloboma, Macular hypoplasia, Hypop...	ORPHA:2334
Familial Keratoacanthoma	Hyperkeratosis, Adenoma sebaceum, Skin ulcer	ORPHA:493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Microphthalmia, Elevated circulating creatine kinase concentration, Buphthalmos	OMIM:613150
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Optic nerve hypoplasia, Upper eyelid entropion, Unilateral renal agenesis, Postaxia...	ORPHA:457284
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Varicose veins, Retinal coloboma	ORPHA:500095
16Q24.3 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261250
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:212550
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po...	OMIM:616959
Holoprosencephaly 9	Anophthalmia, Short stature, Decreased response to growth hormone stimulation test, Anterior pitu...	OMIM:610829
Noonan Syndrome 14	Kyphosis, Short neck	OMIM:619745
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Hypotonia, Ataxia, And Delayed Development Syndrome	Short stature, Tapered finger	OMIM:617330
Varicose Veins	Varicose veins	OMIM:192200
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Kyphosis, Scoliosis	OMIM:619718
Thymic Neuroendocrine Tumor	Abnormal vena cava morphology, Prominent veins on trunk	ORPHA:97289
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Osteolysis, Bone cyst	ORPHA:2396
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Scoliosis	ORPHA:500055
X-Linked Intellectual Disability, Nascimento Type	Patent ductus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Pulmonary...	ORPHA:163956
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth	Varicose veins, Venous malformation	OMIM:613089
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Nephrolithiasis, Periodontitis, Abnormal fallopian tu...	ORPHA:722
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Vesicou...	ORPHA:83628
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Patent ductus arteriosus, Horner syndrome, Con...	OMIM:606519
Cowden Syndrome 1	Kyphosis, Scoliosis	OMIM:158350
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormality of the orbital region, Abnormal heart morpholo...	ORPHA:42775
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Kyphosis, Hemivertebrae, Scoliosis, Short neck	OMIM:618223
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Epicanthus, Finger syndactyly, Short stature, Brachydactyly, Wid...	ORPHA:1587
Ataxia-Telangiectasia-Like Disorder 2	Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Progeroid facial appear...	OMIM:615919
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis	OMIM:613454
Oculoauricular Syndrome	Phthisis bulbi, Nasolacrimal duct obstruction, Retinal coloboma, Macular hypoplasia, Chorioretina...	OMIM:612109
Alexander Disease	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:58
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s...	ORPHA:800
Multiple Endocrine Neoplasia, Type Iib	Kyphosis, Scoliosis, Hyperlordosis	OMIM:162300
Warburg-Cinotti Syndrome	Epicanthus, Symblepharon, Poor wound healing, Pneumothorax, Erythema, Osteolytic defects of the p...	OMIM:618175
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Pigmented Nodular Adrenocortical Disease, Primary, 1	Kyphosis	OMIM:610489
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Kyphosis, Scoliosis	ORPHA:1969
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia, Iris coloboma	OMIM:269400
Pachyonychia Congenita 3	Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d...	OMIM:615726
Oeis Complex	Hydroureter, Bifid uterus, Cryptorchidism, Myelomeningocele, Ambiguous genitalia, female, Epispad...	OMIM:258040
Anterior Segment Dysgenesis 2	Coloboma, Anterior segment of eye aplasia, Aniridia, Microphthalmia, Congenital aphakia	OMIM:610256
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Abnormal fingernail morphology, Supernumerary nipple, Bifid uterus, Sparse eyebrow, A...	ORPHA:1521
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, ...	ORPHA:79280
Clapo Syndrome	Varicose veins, Venous malformation	ORPHA:168984
Gitelman Syndrome	Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Varicose veins, Syncope,...	ORPHA:358
Robinow Syndrome, Autosomal Dominant 3	Kyphosis, Sacral dimple, Scoliosis, Short neck	OMIM:616894
Weaver Syndrome	Kyphosis, Scoliosis	OMIM:277590
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Subvalvular aortic stenosis,...	ORPHA:47159
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Aspartylglucosaminuria	Aspartylglucosaminuria, Kyphosis, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral b...	OMIM:208400
Magel2-Related Prader-Willi-Like Syndrome	Kyphosis, Scoliosis	ORPHA:398069
Intellectual Developmental Disorder, Autosomal Dominant 57	Kyphosis, Scoliosis	OMIM:618050
Mgat2-Cdg	Kyphosis, Scoliosis	ORPHA:79329
Cardiofacioneurodevelopmental Syndrome	Kyphosis	OMIM:619123
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Kyphosis	OMIM:609944
Cdags Syndrome	Kyphosis	OMIM:603116
Prader-Willi Syndrome	Kyphosis, Scoliosis	OMIM:176270
Pontocerebellar Hypoplasia Type 7	Epicanthus, Abnormal scrotal rugation, Cryptorchidism, Wide nasal bridge, Upslanted palpebral fis...	ORPHA:284339
Supranuclear Palsy, Progressive, 1	Gliosis, Astrocytosis	OMIM:601104
Nance-Horan Syndrome	Microphthalmia, Short phalanx of finger, Broad finger	OMIM:302350
Autosomal Recessive Robinow Syndrome	Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis	ORPHA:1507
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Varicose veins	OMIM:314300
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia, Cryptophthalmos, Ankyloblepharon	OMIM:123570
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma	OMIM:157170
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Elevated circulating creatine kinase concentration, Buphthalmos, Coloboma, Hypoplasia of the reti...	OMIM:253280
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Single umbilical artery, Aplasia of the vagina, Pulm...	OMIM:271520
Glomuvenous Malformation	Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation	ORPHA:83454
Triosephosphate Isomerase Deficiency	Kyphosis	OMIM:615512
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis	OMIM:619708
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Kyphosis, Scoliosis, Short neck	OMIM:619194
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Venous malformation	OMIM:612918
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Ascending tubular aorta aneurysm, Keratoconjunctivitis sicca, Arterial diss...	ORPHA:285
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Holoprosencephaly 1	Short stature, Adrenal hypoplasia, Micropenis, Aplasia of the nose, Microphthalmia, Cyclopia, Dia...	OMIM:236100
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Kyphosis, Lumbar hyperlordosis	ORPHA:2232
Lymphatic Malformation 7	Varicose veins	OMIM:617300
Smith-Lemli-Opitz Syndrome	Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:818
Osteogenesis Imperfecta	Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebral bodie...	ORPHA:666
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Myocardial steato...	ORPHA:391665
Lymphatic Malformation 6	Varicose veins, Intestinal lymphangiectasia	OMIM:616843
Autosomal Recessive Spastic Paraplegia Type 35	Kyphosis	ORPHA:171629
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Kyphosis	ORPHA:85199
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:617466
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Zttk Syndrome	Kyphosis, Hemivertebrae, Scoliosis	OMIM:617140
Isolated Arrhinia	Microphthalmia, Eyelid coloboma, Aplasia of the nose	ORPHA:1134
Mucolipidosis Type Ii	Kyphosis	ORPHA:576
Cerebrocostomandibular Syndrome	Kyphosis	ORPHA:1393
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Unilateral renal agenesis, Ectopic kidney, Horseshoe kidney, Aplasia of...	ORPHA:3109
Neurofibromatosis Type 1	Kyphosis, Scoliosis	ORPHA:636
17Q11 Microdeletion Syndrome	Kyphosis, Abnormality of the vertebral column, Beaking of vertebral bodies T12-L3, Scoliosis	ORPHA:97685
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hemolytic anemia, Elevated circulating creatine kinase co...	OMIM:175780
Sotos Syndrome	Kyphosis, Abnormal vertebral morphology, Scoliosis, Sacrococcygeal teratoma	ORPHA:821
Primrose Syndrome	Kyphosis, Posterior scalloping of vertebral bodies, Irregular vertebral endplates	OMIM:259050

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 Cbs

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 Cbs.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Cbs^em1(IMPC)Mbp	Exon Deletion	Mice
Cbs^{tm371579(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Cbs^{tm50944(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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