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Gene: Mecom MGI:95457

Gene Summary

Name:

MDS1 and EVI1 complex locus

Synonyms:

D630039M04Rik, Jbo, MDS1-EVI1, Prdm3, Mds1, ZNFPR1B1, Evi-1, Evi1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased erythrocyte cell number	Mecom^Jbo	HET	Early adult	7.77×10^-06
increased startle reflex	Mecom^Jbo	HET	Early adult	4.55×10^-15
decreased lean body mass	Mecom^Jbo	HET	Early adult	1.77×10^-05
abnormal startle reflex	Mecom^Jbo	HET	Early adult	3.60×10^-07
increased bone mineral content	Mecom^Jbo	HET	Early adult	6.88×10^-07
increased circulating amylase level	Mecom^Jbo	HET	Early adult	1.47×10^-06
abnormal locomotor activation	Mecom^Jbo	HET	Early adult	1.00×10^-05
increased total body fat amount	Mecom^Jbo	HET	Early adult	1.28×10^-14
decreased hemoglobin content	Mecom^Jbo	HET	Early adult	1.61×10^-12
limb grasping	Mecom^Jbo	HET	Early adult	3.97×10^-05
increased blood urea nitrogen level	Mecom^Jbo	HET	Early adult	1.69×10^-05
thrombocytopenia	Mecom^em1(IMPC)J	HET	Early adult	8.56×10^-10
increased lean body mass	Mecom^Jbo	HET	Early adult	5.49×10^-10
preweaning lethality, complete penetrance	Mecom^em1(IMPC)J	HOM	Early adult	0.00
decreased prepulse inhibition	Mecom^Jbo	HET	Early adult	1.85×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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Electroretinography 3

Fundus file

10 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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Electrocardiogram (ECG)

Waveform Image

15 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Mecom 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 Mecom (2 diseases)
Human diseases predicted to be associated with Mecom (2975 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome		Amegakaryocytic thrombocytopenia	ORPHA:71289
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2		Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738

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

Disease	Matching phenotypes	Source
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle...	OMIM:221300
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology...	ORPHA:860
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Gombo Syndrome	Clinodactyly, Abnormal heart morphology, Radial deviation of finger, Brachydactyly	OMIM:233270
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Multiple Epiphyseal Dysplasia Type 5	Back pain, Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decrea...	ORPHA:93311
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ...	OMIM:128980
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Upper limb phocomelia, Abnormal heart morphology, Stillbirth, Polydactyly, Abnormal c...	ORPHA:294975
Syndactyly, Type Iv	1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me...	OMIM:186200
Triphalangeal Thumb, Nonopposable	Polydactyly, Triphalangeal thumb	OMIM:190600
Deafness, Autosomal Recessive 20	Sensorineural hearing impairment, Hearing impairment	OMIM:604060
Metaphyseal Chondrodysplasia, Spahr Type	Hyperlordosis, Abnormality of the dentition, Carious teeth, Delayed skeletal maturation, Dispropo...	ORPHA:2501
Deafness, Autosomal Recessive 13	Sensorineural hearing impairment, Hearing impairment	OMIM:603098
Deafness, Autosomal Recessive 29	Sensorineural hearing impairment, Hearing impairment	OMIM:614035
Deafness, Autosomal Recessive 57	Sensorineural hearing impairment, Hearing impairment	OMIM:618003
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contr...	OMIM:606631
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Short stature, Kyphoscoliosis, Osteoporosis, Growth delay, Malar flattening, Failur...	OMIM:614727
Synpolydactyly 1	2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac...	OMIM:186000
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle...	OMIM:144750
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Abnormal hemoglobin, Short neck, Thrombocytopenia, Abnormal form of the vertebral ...	ORPHA:3319
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Accelerated skeletal maturation, Micrognathia, Irregular vertebral endplat...	OMIM:618363
Isolated Glycerol Kinase Deficiency	Short stature, Hyperlordosis, Cryptorchidism, Osteoporosis, Myopathy, Scoliosis	ORPHA:408
Polydactyly, Preaxial Ii	Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl...	OMIM:174500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Isolated Osteopoikilosis	Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ...	ORPHA:166119
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Maternal Uniparental Disomy Of Chromosome 9	Failure to thrive, Kyphoscoliosis, Short neck, Micrognathia, Hamstring contractures, Patellar dis...	ORPHA:96183
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Mucolipidosis Type Iii	Craniofacial hyperostosis, Short stature, Joint stiffness, Hyperlordosis, Abnormal form of the ve...	ORPHA:577
Brachydactyly, Type A4	Short middle phalanx of the 2nd finger, Short middle phalanx of the 5th finger, Type A brachydact...	OMIM:112800
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Hand muscle atrophy, Joint laxity, Lumbar hyperlordosis, Short stature, Spondylol...	OMIM:600561
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Type 1 coll...	OMIM:610915
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Fallot Complex With Severe Mental And Growth Retardation	Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Double outlet right ventricle,...	OMIM:601127
Brachyolmia Type 1, Toledo Type	Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Precocious cost...	OMIM:271630
Polydactyly, Postaxial, Type A1	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr...	OMIM:174200
Ck Syndrome	Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, Retrognathia, High palate, Scoliosis, Mal...	OMIM:300831
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Rhizomelic Chondrodysplasia Punctata, Type 1	Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc...	OMIM:215100
Atresia Of External Auditory Canal And Conductive Deafness	Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud...	OMIM:108760
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste...	ORPHA:324964
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Scapular winging, Lumbar hyperlordosis, Short stature, Paraspinal muscle hypertr...	OMIM:602484
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Disproportionate short stature,...	ORPHA:40
Alpha-Mannosidosis	Mandibular prognathia, Craniofacial hyperostosis, Short neck, Open bite, Kyphosis, Splenomegaly, ...	ORPHA:61
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha...	OMIM:618167
Brachydactyly, Type A2, With Microcephaly	Type A2 brachydactyly, Absent middle phalanx of 2nd finger, Thumbs hypoplastic with bulbous tips,...	OMIM:211369
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Flynn-Aird Syndrome	Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc...	OMIM:136300
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Trismus, Vertebral wedging, Platyspon...	OMIM:616583
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Open mouth, Spinal canal stenosis, Calvarial h...	OMIM:176920
Myosclerosis, Autosomal Recessive	Skeletal muscle atrophy, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Facial pal...	OMIM:255600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Nemaline Myopathy 7	Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee...	OMIM:610687
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird...	OMIM:620386
Brachyolmia Type 1, Hobaek Type	Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Dispropor...	OMIM:271530
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Alkaptonuria	Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thi...	OMIM:203500
Intellectual Developmental Disorder, X-Linked 19	Small for gestational age, Dental crowding, Kyphoscoliosis, Thick lower lip vermilion, Everted lo...	OMIM:300844
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype...	ORPHA:363454
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne...	OMIM:620389
Melorheostosis	Skeletal muscle atrophy, Increased bone mineral density, Joint stiffness, Bone pain, Arthritis, H...	ORPHA:2485
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Joint laxity, Delayed eruption of teeth, Short stature, Camptodactyly of finger, Kyph...	OMIM:612350
Renal, Genital, And Middle Ear Anomalies	Hearing impairment, Abnormality of the middle ear ossicles	OMIM:267400
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Camptosynpolydactyly, Complex	Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly	OMIM:607539
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Shor...	OMIM:618435
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Polydactyly, Preaxial Iv	Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent...	OMIM:174700
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Triphalangeal Thumb With Polysyndactyly	Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br...	OMIM:190605
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Kyphosis, Cryptorchidism...	ORPHA:2471
Dysspondyloenchondromatosis	Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo...	ORPHA:85198
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Microcephaly With Cervical Spine Fusion Anomalies	Vertebral fusion, Short stature, Spinal instability	OMIM:251250
Warburg Micro Syndrome 1	Short stature, Kyphoscoliosis, Micrognathia, Cryptorchidism, Osteoporosis, Thin vermilion border,...	OMIM:600118
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Small for gestational age, Ky...	OMIM:613330
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Joint hypermobility	ORPHA:300179
Sillence Syndrome	Back pain, Slender build, Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal...	ORPHA:3168
Scimitar Syndrome	Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Atrial septal defect, Single ...	ORPHA:185
Scheuermann Disease	Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Genu v...	OMIM:609223
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Short stature, Distal amyotrophy, Scoliosis, Type 1 muscle...	OMIM:619042
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Ankle clonus, High palate, Scoliosis, Joint contracture, Lower...	OMIM:611225
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ...	OMIM:609285
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac...	OMIM:610140
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Leukodystrophy, Hypomyelinating, 17	Mandibular prognathia, Kyphoscoliosis, Flexion contracture, Gingival overgrowth, Growth delay, Wi...	OMIM:618006
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome	Decreased muscle mass, Short stature, Kyphoscoliosis, High, narrow palate, Hypermobility of inter...	ORPHA:3433
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Osteoarthritis, Delayed epiphyseal ossification, Gene...	ORPHA:750
Dysplasia Of Head Of Femur, Meyer Type	Multicentric femoral head ossification, Congenital hip dislocation, Leukocytosis, Delayed skeleta...	ORPHA:168621
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Micrognathia...	ORPHA:536516
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck...	ORPHA:93284
Pycnodysostosis	Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma...	ORPHA:763
Congenital Myopathy 16	Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Micrognathia, Flexion contracture, High ...	OMIM:618524
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Patent ductus arteriosus...	OMIM:601927
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v...	OMIM:300718
Richieri Costa-Da Silva Syndrome	Joint dislocation, Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short n...	ORPHA:3101
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Severe short stature, Block vertebrae, Abnormal odontoid process mor...	OMIM:277300
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Skeletal muscle atrophy, Hyperlordosis, Osteolysis, Foot acroosteolysis,...	ORPHA:970
Feingold Syndrome Type 2	Toe syndactyly, Ventricular septal defect, Short thumb, Short middle phalanx of finger, Brachydac...	ORPHA:391646
Metatropic Dysplasia	Relatively short spine, Enlarged joints, Severe short stature, Kyphoscoliosis, Abnormal enchondra...	OMIM:156530
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi...	ORPHA:1159
Charcot-Marie-Tooth Disease, Axonal, Type 2X	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Ankle flexion contracture,...	OMIM:616668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos...	OMIM:606612
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank...	ORPHA:280333
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu...	ORPHA:97244
Winchester Syndrome	Arthropathy, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis,...	OMIM:277950
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe...	OMIM:167320
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Non-Syndromic Genetic Deafness	Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i...	ORPHA:87884
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Failure to thrive, Small for gestational age, Kyphoscoliosis, Microgna...	OMIM:214150
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten...	OMIM:615290
Camurati-Engelmann Disease	Skeletal muscle atrophy, Craniofacial osteosclerosis, Bone pain, Leukopenia, Cortical thickening ...	ORPHA:1328
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Slender build	ORPHA:352470
Ck Syndrome	Microretrognathia, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, High palate, Malar flat...	ORPHA:251383
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Short stature, Kyphoscoliosis	ORPHA:93304
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Familial Anetoderma	Irregular dentition, Generalized joint laxity, Lumbar hyperlordosis, High, narrow palate	ORPHA:228277
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Anauxetic Dysplasia 2	Short stature, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, P...	OMIM:617396
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Decreased muscle mass, Micrognathia, Postnatal growth retardation, Abnormal form of the vertebral...	ORPHA:73230
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Short neck, Micrognathia,...	OMIM:255800
Kbg Syndrome	Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Short stature, M...	ORPHA:2332
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger, Brachydac...	ORPHA:1937
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,...	OMIM:611067
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Retrognathia, High palate, Ty...	OMIM:161800
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormality of the knee, Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morp...	ORPHA:99642
King-Denborough Syndrome	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Centrally nucleated skeletal mus...	OMIM:619542
Whistling Face Syndrome, Recessive Form	Shoulder flexion contracture, Kyphoscoliosis, Short neck, Micrognathia, Narrow mouth, Whistling a...	OMIM:277720
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Abnormal ...	ORPHA:2635
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Small for gestational age, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossific...	OMIM:618392
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis	OMIM:617404
Fibrodysplasia Ossificans Progressiva	Spinal rigidity, Limitation of joint mobility, Ectopic ossification in ligament tissue, Ectopic o...	ORPHA:337
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr...	OMIM:619719
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Reduced bone mineral density, Iron deficiency anemia, High palate, Abnormal bone ossi...	ORPHA:93315
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio...	ORPHA:157973
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend...	ORPHA:62
Progressive Pseudorheumatoid Dysplasia	Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif...	OMIM:208230
Ichthyosis--Cheek--Eyebrow Syndrome	High palate, Kyphoscoliosis	OMIM:146720
Osteogenesis Imperfecta, Type Xiii	Skeletal muscle atrophy, Increased bone mineral density, Short stature, Recurrent fractures, Kyph...	OMIM:614856
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int...	OMIM:607088
Hall-Riggs Syndrome	Kyphosis, Delayed skeletal maturation, Hypoplasia of the primary teeth, Osteoporosis, Thick lower...	OMIM:234250
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures...	OMIM:610968
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Upper limb amyotrophy, K...	ORPHA:496689
Structural Heart Defects And Renal Anomalies Syndrome	Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste...	OMIM:617478
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Short stature, Abnormality of the dentition, Kyphosis, Increased circulati...	ORPHA:1858
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De...	OMIM:130060
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Short stature, Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly...	OMIM:612847
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Delayed eruption of teeth, Scapular winging, Ivory epiphyses of the distal phalanges ...	OMIM:190350
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis, Weakness of facial musculature, High palate, Cubit...	OMIM:610313
Lambert Syndrome	Ventricular septal defect, Jaundice, Cholestasis, Branchial anomaly, Intrahepatic biliary atresia...	ORPHA:1296
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Ring Chromosome 21 Syndrome	Fused thoracic vertebrae, Short stature, Decreased circulating antibody level, Azoospermia, Infer...	ORPHA:1445
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Small for gestational age, Premature...	ORPHA:2959
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Atypical Werner Syndrome	Sclerosis of hand bone, Skeletal muscle atrophy, Micrognathia, Reduced bone mineral density, Incr...	ORPHA:79474
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si...	ORPHA:2299
Bardet-Biedl Syndrome 11	Hypogonadism, Polydactyly, Obesity	OMIM:615988
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Cryptorchidism, Flexion contr...	ORPHA:75496
Congenital Muscular Dystrophy Without Intellectual Disability	Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac...	ORPHA:370980
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Brachydactyly	OMIM:615983
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Elbow dislocation, Limitation of joint mobility, Hypoplastic fron...	ORPHA:90650
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Short mandibular rami	OMIM:141300
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion	OMIM:155050
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses...	OMIM:305620
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Multiple joint dislocation, Generalized joint laxity, Abnormal c...	ORPHA:93360
Spinal Muscular Atrophy, Ryukyuan Type	Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy	OMIM:271200
Diaphanospondylodysostosis	Cleft palate, Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral ...	ORPHA:66637
Myasthenic Syndrome, Congenital, 14	Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w...	OMIM:616228
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Distal arthrogryposis, High palate, Camptodactyly	OMIM:618011
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora...	ORPHA:980
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Intellectual Developmental Disorder, Autosomal Recessive 39	Short stature, Kyphoscoliosis, Dental malocclusion	OMIM:615541
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal shoulder morphology, Brachydactyly, Abnormal mitral valve morphology, Mesomelia	ORPHA:1277
Bardet-Biedl Syndrome 16	Respiratory distress, Obesity, Polydactyly, Hypogonadism, Recurrent otitis media, Hearing impairment	OMIM:615993
Three M Syndrome 1	Joint dislocation, Mandibular prognathia, Scapular winging, Small for gestational age, Short stat...	OMIM:273750
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ...	ORPHA:284984
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl...	OMIM:101800
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Obesity, Scoliosis	OMIM:616756
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Contractu...	ORPHA:329178
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Dental crowding, Exaggerated med...	ORPHA:313892
Pseudodiastrophic Dysplasia	Smooth philtrum, Lumbar hyperlordosis, Rhizomelia, Phalangeal dislocation, Severe short stature, ...	OMIM:264180
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Craniosynostosis, Thic...	OMIM:619451
Transaldolase Deficiency	Edema, Hydrops fetalis, Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Coarctation of aor...	ORPHA:101028
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Short stature, Limb joint contracture, Ky...	OMIM:612079
Double Outlet Right Ventricle	Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet right ventricle, Heart m...	ORPHA:3426
Loeys-Dietz Syndrome 6	Knee osteoarthritis, High palate, Scoliosis, Hip osteoarthritis, Intervertebral disc degeneration	OMIM:619656
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Hypertrophic cardiomyopathy, Ascites, Thr...	ORPHA:295
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Bicuspid aortic valve, Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacar...	OMIM:604381
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Joint contracture, Kyphoscoliosis	OMIM:617977
Verheij Syndrome	Joint laxity, Vertebral fusion, Thin upper lip vermilion, Small for gestational age, Short statur...	OMIM:615583
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Ace...	OMIM:617405
Microcephalic Primordial Dwarfism, Montreal Type	Severe short stature, Micrognathia, Open bite, Cryptorchidism, Kyphosis, Carious teeth, Reduced b...	ORPHA:2617
Mucopolysaccharidosis Type 4	Joint dislocation, Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, K...	ORPHA:582
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,...	OMIM:231070
Kniest Dysplasia	Arthropathy, Enlarged joints, Short neck, Delayed epiphyseal ossification, Abnormal cartilage col...	ORPHA:485
Desbuquois Dysplasia 1	Joint dislocation, Short neck, Osteoarthritis, Genu varum, Joint laxity, Microretrognathia, Hyper...	OMIM:251450
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Truncus ar...	OMIM:616589
Renal-Hepatic-Pancreatic Dysplasia 2	Truncus arteriosus, Situs inversus totalis, Asplenia, Abnormal lung lobation, Stillbirth, Aortic ...	OMIM:615415
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis	Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis	OMIM:236660
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Enlarged joints, Severe short stature, ...	OMIM:313420
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho...	OMIM:607855
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Abnormal dental morphology, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Mal...	ORPHA:2522
Masa Syndrome	Kyphosis, Short stature, Hyperlordosis	OMIM:303350
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Posterior fusion of lumbosacral vertebrae	OMIM:192800
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Widely spaced teeth, Anterior beaking of lumbar vertebrae, Joi...	OMIM:253000
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordosis, Micrognathia, Increased ...	OMIM:616817
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Scapular winging, Sacral dimple, Short stature, Camptodactyly of finger, O...	ORPHA:1327
Hypochondroplasia	Hyperlordosis, Osteoarthritis, Abnormality of the elbow, Spinal canal stenosis, Abnormal form of ...	ORPHA:429
Tetrasomy X	Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly	ORPHA:9
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Overriding aorta, Patent ductus arteriosus, Severe failure to thrive, Pulmonic stenosis, Atrial s...	ORPHA:3304
Arthrogryposis, Distal, Type 3	Decreased muscle mass, Lumbar hyperlordosis, Congenital hip dislocation, Thoracolumbar scoliosis,...	OMIM:114300
Myopathy, Myofibrillar, 8	Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Distal joint laxit...	OMIM:617258
Jawad Syndrome	Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd...	OMIM:251255
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Vertebral fusion, Hip contracture, Short stature, Tarsal synostosis, Multiple pterygia, Short nec...	OMIM:178110
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Short stature, Abnormal...	ORPHA:2916
Myopathy, Distal, 1	Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra...	OMIM:160500
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Hyperlordosis, Fatty replacement of skeletal muscle, Osteolysis, Increased suscept...	ORPHA:52430
Polydactyly, Preaxial Iii	Preaxial polydactyly, Triphalangeal thumb	OMIM:174600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Acute rhabdomyolysis, Camptodactyly of finger, Short stature, Micr...	ORPHA:48431
Symphalangism, Distal	Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte...	OMIM:185700
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Joint laxity, Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nuclea...	OMIM:617760
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Micrognathia, Cryptorchidism, Furrow...	ORPHA:1387
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, ...	OMIM:193700
Roussy-Lévy Syndrome	Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic hand muscle atrophy, Genu valgum, Distal amyot...	ORPHA:3115
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Back pain, Kyphoscoliosis, Cervical spondylosis, Localized osteoporosis, Lower limb pain	ORPHA:199354
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv	Short stature, Kyphoscoliosis	OMIM:600384
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Broad ischia, Flat acetab...	OMIM:609052
Spondylometaphyseal Dysplasia, Kozlowski Type	Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal...	OMIM:184252
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Severe short stature, Hyperlordosis, Hypoplasia of the odontoid process, Cleft palate, Genu valgu...	OMIM:184250
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c...	OMIM:265000
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Upper limb muscle weakness, Distal amyotrophy, Foot dorsiflexor weakness, Kyphoscoliosis	OMIM:605588
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Anemia	ORPHA:1192
Microphthalmia, Syndromic 9	Ventricular septal defect, Agenesis of pulmonary vessels, Patent ductus arteriosus, Hypoplastic l...	OMIM:601186
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thin upper ...	ORPHA:3041
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos...	OMIM:255200
Brachydactyly, Type B1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Hemivertebrae, Delayed eruption of...	OMIM:113000
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal lung lobation, Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect	ORPHA:2516
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General...	ORPHA:2790
Forsythe-Wakeling Syndrome	Short stature, Delayed skeletal maturation, Osteoporosis, Growth delay, Decreased body weight, Th...	OMIM:613606
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Joint stiffness, ...	OMIM:609308
Potocki-Lupski Syndrome	Mandibular prognathia, Short stature, Small for gestational age, Dental crowding, Micrognathia, D...	OMIM:610883
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Brachydactyly	OMIM:612001
Bardet-Biedl Syndrome 14	Polydactyly	OMIM:615991
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Decreased muscle mass, Short stature, Dental crowding, Short n...	OMIM:130720
Whim Syndrome 2	Tetralogy of Fallot, Chronic neutropenia	OMIM:619407
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle...	OMIM:607155
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Distal amyotrophy, Kyphoscoliosis	OMIM:619099
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Increased bone mineral density, Short stature, Abnormal dent...	ORPHA:1798
Bruck Syndrome 1	Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp...	OMIM:259450
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi...	ORPHA:377
Aarskog-Scott Syndrome	Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Short stature, Short neck, H...	ORPHA:915
Cerebrooculofacioskeletal Syndrome 4	Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Short stature, Micrognathi...	OMIM:610758
Wild Type Abeta2M Amyloidosis	Arthropathy, Abnormal intervertebral disk morphology, Abnormality of the vertebral endplates, Bon...	ORPHA:85446
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Ciliary Dyskinesia, Primary, 39	Recurrent lower respiratory tract infections, Double outlet right ventricle, Bronchiectasis, Dext...	OMIM:618254
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Short stature, Abnormal dental morphology, Open bite, Dental malocclusion,...	ORPHA:3079
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Seckel Syndrome 1	Pancytopenia, Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognathi...	OMIM:210600
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Severe short stature, Hyperlordosis, Short neck, Delayed epiphyseal ossification, P...	ORPHA:93352
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Facial palsy, Recurrent fractures, Splenomegaly,...	OMIM:611490
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality ...	ORPHA:2114
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Monosomy 5P	Microretrognathia, Short stature, Recurrent fractures, Short neck, Joint hyperflexibility, High p...	ORPHA:281
Charcot-Marie-Tooth Disease Type 1A	Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis	ORPHA:101081
Noonan Syndrome 12	Ventricular septal defect, Polyhydramnios, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Su...	OMIM:618624
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Bethlem Myopathy 2	Scapular winging, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Myopathy, ...	OMIM:616471
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl...	ORPHA:488232
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Splenomegaly, Abnormal form of the vertebral bodies, Abnormal cortical...	ORPHA:1802
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C...	ORPHA:90646
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Craniofacial hyperostosis, Hypogonadotropic hypogonadism, Facial palsy, ...	ORPHA:3068
14Q24.1Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Truncus arteriosus, P...	ORPHA:401935
Schimke Immunoosseous Dysplasia	Osteopenia, Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Thoracic kyphosis, ...	OMIM:242900
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,...	OMIM:259600
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Enlarged joints, Rhizomelia, Kyphoscoliosis, Abnormality of the elbow,...	ORPHA:263463
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ...	ORPHA:206546
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Severe short stature, Facial palsy, Hy...	ORPHA:2780
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Short neck, Abnormal sacrum morphology, Cleft palate, Abnormalit...	ORPHA:2345
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardation, Dental maloccl...	OMIM:608940
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis, Short stature	ORPHA:2786
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ...	OMIM:603034
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta...	OMIM:160150
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Thoracic kyphosis, Neutropenia, Decreased circulating IgG leve...	OMIM:271510
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,...	ORPHA:477817
Central Core Disease	Joint laxity, Multiple joint contractures, Congenital hip dislocation, Kyphoscoliosis, Myopathy, ...	ORPHA:597
Preeclampsia/Eclampsia 1	Hypertension, Thrombocytopenia, Edema	OMIM:189800
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:312150
Genitopalatocardiac Syndrome	Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the...	OMIM:231060
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Parkinson-Dementia Syndrome	Kyphoscoliosis	OMIM:260540
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, High palate, Premature loss of teet...	OMIM:102500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Hip dislocation, Skeletal muscl...	OMIM:613156
Spondylometaphyseal Dysplasia, Kozlowski Type	Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Genu varum, C...	ORPHA:93314
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu...	ORPHA:99050
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Joint laxity, Hyperlordosis, Microcy...	OMIM:600462
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Delayed s...	ORPHA:3085
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo...	OMIM:615779
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph...	OMIM:184100
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Sacral dimple, Short stature, Dental crowding, Kyphoscoliosis, Microgna...	OMIM:616331
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis, Short stature, Generalized joint laxity, Patellar hypoplasia, Irregular pat...	OMIM:609325
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Sho...	OMIM:612921
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Retrognathia, High palate, Neutropeni...	OMIM:618005
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Short stature, Camptodactyly	OMIM:618453
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join...	OMIM:618323
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Short neck, Micrognathia, Flexi...	OMIM:616549
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, Growth delay, ...	OMIM:244600
Striatonigral Degeneration, Childhood-Onset	Ankle clonus, Lumbar hyperlordosis	OMIM:617054
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Long upper lip, Hip dislocation, Advance...	OMIM:615349
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Short neck, Micrognathia, Generalized joint laxity, High palate, Sho...	ORPHA:251028
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Severe short stature, Short neck, Hemivertebrae, Disproportionat...	OMIM:122600
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Dental crowding, Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, High palate, Scolios...	OMIM:236200
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Osteoporosis, Hip dislocation, Cleft pal...	ORPHA:447980
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Mandibular prognathia, Lumbar hyperlordosis, Short stature, Accelerated skeletal maturation, Prem...	OMIM:165800
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Camptodactyly of finger, Abnormal dental enamel morpholo...	ORPHA:2710
2q37 monosomy	Brachydactyly	DECIPHER:44
Orofaciodigital Syndrome Xi	Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis	OMIM:612913
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Vertebral segmentation defect	OMIM:618845
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Polyhydramnios, Asplenia, Abnormal lung lobation, ...	OMIM:265380
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Short stature, Kyphoscoliosis, Abnormality of the dentition, Thi...	ORPHA:391307
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri...	ORPHA:2064
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Decreased muscle mass, Smooth phi...	OMIM:309583
X-Linked Intellectual Disability, Stocco Dos Santos Type	Kyphosis, Small for gestational age, Short stature, Congenital bilateral hip dislocation	ORPHA:85288
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent...	OMIM:616852
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Intellectual Developmental Disorder, X-Linked 111	Kyphoscoliosis	OMIM:301107
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Abnormal macrophage morpho...	ORPHA:353
Contractural Arachnodactyly, Congenital	Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Micrognathia,...	OMIM:121050
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Dental crowding, Kyphoscoliosis, Splenomegaly, Macroglossia, High pala...	OMIM:616354
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Polydactyly, Postaxial, Type A8	Postaxial polydactyly, Genu valgum	OMIM:618123
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os...	OMIM:259440
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Osteomalacia, Recurrent fractures,...	ORPHA:562
Microphthalmia, Syndromic 13	Short stature, Kyphoscoliosis, Widely-spaced incisors	OMIM:300915
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
22Q11.2 Duplication Syndrome	Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt...	ORPHA:1727
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Short stature, Kyphoscoliosis, Fle...	ORPHA:35173
Craniosynostosis 3	Sagittal craniosynostosis, Dental malocclusion, Left unicoronal synostosis, Right unicoronal syno...	OMIM:615314
Acrocapitofemoral Dysplasia	Short stature, Ovoid vertebral bodies, Hyperlordosis, Delayed skeletal maturation, Scoliosis, Gen...	ORPHA:63446
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Thin upper lip vermilion, Small for gestational age, Kyphoscoliosis, Short neck, Pr...	ORPHA:391408
Foxg1 Syndrome	Short stature, Kyphoscoliosis, Severe postnatal growth retardation, Scoliosis, Decreased body weight	ORPHA:561854
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Mucopolysaccharidosis, Type Ivb	Joint laxity, Mandibular prognathia, Ulnar deviation of the wrist, Ovoid vertebral bodies, Hyperl...	OMIM:253010
Cooks Syndrome	Split hand, Broad thumb, Triphalangeal thumb, Brachydactyly	ORPHA:1487
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Pancytopenia, Failure to thrive, Increased bone mineral ...	OMIM:259700
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Enlarged joints, Short stature, Disproportionate short-limb short stature, ...	ORPHA:156728
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi...	OMIM:618469
Carpenter Syndrome	Craniosynostosis, Kyphoscoliosis, Cryptorchidism, Obesity, Genu valgum, Polysplenia	ORPHA:65759
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited elbow movement,...	OMIM:300280
Acropectoral Syndrome	Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb	OMIM:605967
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Intellectual Developmental Disorder, Autosomal Dominant 23	Thin upper lip vermilion, Sacral dimple, Dental crowding, Hyperlordosis, Micrognathia, Kyphosis, ...	OMIM:615761
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi...	ORPHA:75566
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Intellectual Developmental Disorder, Autosomal Dominant 2	Cholesteatoma	OMIM:614113
Congenital Myopathy 4A, Autosomal Dominant	Congenital hip dislocation, Lumbar hyperlordosis, Facial palsy, Limb joint contracture, Centrally...	OMIM:255310
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal cardiac septum morphology, Abnorm...	ORPHA:2370
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Harrod Syndrome	Cryptorchidism, Kyphosis, Dental malocclusion, Joint hyperflexibility, High palate, Scoliosis, Na...	ORPHA:2115
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Small for gestational age, Short stat...	OMIM:216550
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi...	OMIM:613818
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Hip disl...	OMIM:616507
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Genu recurvatum, Acute rhabdomyoly...	OMIM:604168
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso...	ORPHA:94068
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Hypoplasia of the thy...	OMIM:617022
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Short neck, Micrognathia, High palate, Wrist flexion contracture, Long p...	ORPHA:800
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Wieacker-Wolff Syndrome	Short stature, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Micrognathia, Hip dislocation, ...	OMIM:314580
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Thin upper lip vermilion, Short stature, Dental crowding, Delayed skeletal maturation...	OMIM:617877
Sclerosteosis 1	Mandibular prognathia, Facial palsy, Sclerotic scapulae, Irregular menstruation, Dental malocclus...	OMIM:269500
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Joint stiffness, Splenomegaly, Ovoid thoracolumbar vertebrae, Everted lower lip v...	OMIM:252930
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Preaxial hand polydactyly, Overfolded helix, Abnormal antihelix morphology, Large ...	ORPHA:79113
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect	OMIM:601355
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly	ORPHA:3303
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis,...	ORPHA:59
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Facial hypotonia, Kyphoscoliosis, Short neck, Micrognathia, Flexion contracture, Obesity, High pa...	OMIM:300055
Larsen-Like Syndrome	Joint dislocation, Joint laxity, Short stature, Kyphoscoliosis, Delayed skeletal maturation, Dent...	OMIM:608545
Congenital Myasthenic Syndromes With Glycosylation Defect	Joint laxity, Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb ...	ORPHA:353327
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio...	OMIM:135100
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Disproportionate short stature, Flat acetabular roof, Irregular vertebral e...	OMIM:609616
Mulchandani-Bhoj-Conlin Syndrome	Severe short stature, Hyperlordosis, Retrognathia, Scoliosis, Intrauterine growth retardation, Fa...	OMIM:617352
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Kyphosis, Osteoarthritis...	ORPHA:77259
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Scoliosis, Thoracic hemivert...	ORPHA:1436
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy	OMIM:613723
Moyamoya Disease With Early-Onset Achalasia	Abnormal cerebral vascular morphology, Raynaud phenomenon, Abnormal platelet aggregation, Hyperte...	ORPHA:401945
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-marrow foam cel...	OMIM:607616
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Micrognathia, Narrow pala...	ORPHA:1323
Branchiootic Syndrome	Sensorineural hearing impairment, Abnormality of the inner ear, Atresia of the external auditory ...	ORPHA:52429
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Bardet-Biedl Syndrome 10	Hypogonadism, Polydactyly, Obesity	OMIM:615987
Anauxetic Dysplasia 1	Joint laxity, Hip contracture, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Severe sh...	OMIM:607095
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Hyperlordosis, Short neck, Abnormal sacrum morphology, Cleft palate, Verteb...	ORPHA:1797
Ullrich Congenital Muscular Dystrophy 2	Facial palsy, Kyphoscoliosis, Flexion contracture, High palate, Increased variability in muscle f...	OMIM:616470
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Meta...	ORPHA:1927
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Hyperlordosis, Short neck, K...	ORPHA:2789
Pseudoachondroplasia	Genu recurvatum, Limited hip extension, Osteoarthritis, Delayed epiphyseal ossification, Genu var...	OMIM:177170
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Kyphoscoliosis	OMIM:117850
Three M Syndrome 3	Small for gestational age, Short stature, Hyperlordosis, Short neck, Increased vertebral height, ...	OMIM:614205
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Micrognathia...	OMIM:256050
Leukodystrophy, Hypomyelinating, 3	Joint contracture, Failure to thrive, Lower limb amyotrophy, Kyphoscoliosis	OMIM:260600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Disproportionate short stature, Decreased circulating antibody leve...	OMIM:617425
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Kyphosis, Narrow mouth, Tongue fasciculations, Facial myokymia, Failure to thrive	OMIM:620007
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98855
Blepharophimosis-Impaired Intellectual Development Syndrome	Joint laxity, Thin upper lip vermilion, Exaggerated cupid's bow, Cryptorchidism, Delayed skeletal...	OMIM:619293
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Myotonia With Skeletal Abnormalities And Mental Retardation	Short stature, Kyphoscoliosis, Vertebral wedging, Genu valgum, Skeletal muscle hypertrophy, Firm ...	OMIM:255710
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Lumbar hyperlordosis, Short stature, Rhizomelia, Micrognathia, Cryptorchidism, Hip dislocation, D...	OMIM:602471
13Q12.3 Microdeletion Syndrome	Thin upper lip vermilion, Short stature, Congenital diaphragmatic hernia, Kyphoscoliosis, Cryptor...	ORPHA:412035
Urban-Rogers-Meyer Syndrome	Short stature, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis, ...	ORPHA:3409
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t...	OMIM:183900
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Lumbar hyperlordosis, Short neck, Splenomegaly, Delayed epiphyseal ossification, Ge...	OMIM:602557
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Failure to thrive, Elevated circulating creatinine concentration, Increased blood u...	OMIM:617872
Scholte Syndrome	Everted lower lip vermilion, Decreased testicular size, Kyphoscoliosis, Patellar hypoplasia	OMIM:300977
Braddock-Carey Syndrome 1	Hyperlordosis, Pierre-Robin sequence, Cleft palate, Growth delay, Thick vermilion border, Everted...	OMIM:619980
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Kyphoscoliosis, Short neck, Postnatal growth retardation, Punctate vertebral calcific...	OMIM:302960
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus	OMIM:611867
Digeorge Syndrome	Pilonidal sinus, Short stature, Impaired T cell function, Micrognathia, Thrombocytopenia, Splenom...	OMIM:188400
Joubert Syndrome 18	Joint laxity, Trident pelvis, Kyphoscoliosis, Cleft palate, Lobulated tongue, Camptodactyly, Intr...	OMIM:614815
Eiken Syndrome	Absence of the sacrum, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Short...	ORPHA:79106
Brown-Vialetto-Van Laere Syndrome 2	Facial palsy, Kyphoscoliosis, Generalized amyotrophy, Scoliosis, Tongue fasciculations, Limb musc...	OMIM:614707
Mucolipidosis Iii Gamma	Short stature, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Genu valgum, Scoliosis	OMIM:252605
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Severe short stature, Hyperlordosis, Abnormal zygomatic bone morphology, U...	ORPHA:2511
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Short neck, Micrognathia, Kyphosis, Cryptorchidism, High palate, Camptod...	OMIM:618393
Acrootoocular Syndrome	Delayed eruption of teeth, Small hypothenar eminence, Small for gestational age, Short stature, K...	ORPHA:2980
Van Maldergem Syndrome 1	Osteopenia, Joint laxity, Sacral dimple, Wide cranial sutures, Irregular dentition, Tented upper ...	OMIM:601390
Coffin-Siris Syndrome 6	Short stature, Kyphoscoliosis, Micrognathia, High, narrow palate, Deep philtrum, Cleft palate, Sh...	OMIM:617808
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o...	OMIM:616007
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha...	ORPHA:370010
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Disproportionate short-limb short stature,...	OMIM:146000
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Myopathy, Scoliosis, Failure to thrive	OMIM:618234
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Thenar muscle at...	OMIM:612394
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness	OMIM:617087
Roussy-Levy Hereditary Areflexic Dystasia	Distal amyotrophy, Kyphoscoliosis	OMIM:180800
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Genu recurvatum, Camptodactyly of finger, Joint...	ORPHA:137834
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased inter...	OMIM:607944
Bardet-Biedl Syndrome 18	Brachydactyly	OMIM:615995
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Joint hyperflexibility, Hypogonadism, Cubitus valgus, Congenital muscular dystrophy, De...	ORPHA:1875
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Prominent metopic ridge, Short stature, Fused cervical vertebrae, Scoliosis, Thoracic hemivertebrae	OMIM:309620
Arthrogryposis, Distal, Type 5D	Decreased muscle mass, Congenital hip dislocation, Short stature, Tongue atrophy, Limited elbow m...	OMIM:615065
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Distal amyotrophy, Hyperlordosis	OMIM:162370
Typical Nemaline Myopathy	Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ...	ORPHA:171436
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Meniere Disease	Vertigo, Tinnitus, Hearing impairment	OMIM:156000
Mitochondrial Myopathy And Sideroblastic Anemia	Micrognathia, Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Delaye...	ORPHA:2598
Diastrophic Dysplasia	Joint dislocation, Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Elbo...	ORPHA:628
3M Syndrome	Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Short stature, Abnormal ...	ORPHA:2616
Bardet-Biedl Syndrome 7	Postaxial polydactyly, 2-3 toe syndactyly, Obesity, Polydactyly, Hypogonadism, Clinodactyly	OMIM:615984
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Joint laxity, Scapular winging, Microretrognathia, Short stature, Hyperlordosi...	OMIM:618870
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu...	OMIM:620249
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m...	OMIM:615156
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Gm1 Gangliosidosis	Mandibular prognathia, Short stature, Camptodactyly of finger, Hyperlordosis, Joint stiffness, Ky...	ORPHA:354
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Joint Laxity, Short Stature, And Myopia	Short stature, Cervical kyphosis, Kyphoscoliosis, Multiple joint dislocation, Joint hypermobility	OMIM:617662
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Osteosclerosis of ri...	ORPHA:174
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical...	ORPHA:98863
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Spondylo-Ocular Syndrome	Abnormal intervertebral disk morphology, Facial hypotonia, Short stature, Short neck, Osteoporosi...	ORPHA:85194
Sialidosis Type 2	Skeletal muscle atrophy, Short stature, Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis	ORPHA:87876
Otosclerosis 7	Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a...	OMIM:611572
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Thoracomelic Dysplasia	Hyperlordosis, Elbow dislocation, Short neck, Genu valgum, Joint hyperflexibility, Disproportiona...	ORPHA:1803
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Abscess, Splenomegaly, Per...	OMIM:612852
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Short neck, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 ve...	OMIM:214300
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita	Flexion contracture of finger, Small for gestational age, Postnatal growth retardation, Cryptorch...	ORPHA:319332
20Q11.2 Microdeletion Syndrome	Finger clinodactyly, Adducted thumb, Camptodactyly, Brachydactyly	ORPHA:444051
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Noonan Syndrome 4	Short stature, Large for gestational age, Short neck, Cryptorchidism, Delayed skeletal maturation...	OMIM:610733
Lamb-Shaffer Syndrome	Mild postnatal growth retardation, Micrognathia, Fused cervical vertebrae, Thoracic kyphosis, Thi...	ORPHA:530983
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Short stature, Kyphosis, Obesity, Oligodontia, Everted lower lip vermilion, Scoliosis, Anodontia	ORPHA:276630
Koolen-De Vries Syndrome	Vertebral fusion, Short stature, Abnormal dental enamel morphology, Abnormality of the dentition,...	ORPHA:96169
Bruck Syndrome	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli...	ORPHA:2771
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Tongue atrophy, Lumbar hyperlordosis, Multiple joint contractures, Incre...	OMIM:617114
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Horizontal sacrum, Delayed eruption of permanent teeth, Scoliosis...	OMIM:112350
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Howell-Jolly bodies, Ventricular septal defect, Left superior vena cava...	OMIM:613759
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Irregular carpal bones, Hip dis...	OMIM:226980
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Distal amyotrophy, Foot dorsiflexor weakness, Limb muscle weakness, Kyphoscoliosis	OMIM:118220
Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr...	ORPHA:98853
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con...	ORPHA:75840
Cerebrooculofacioskeletal Syndrome 2	Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Micrognathia, Growth delay, I...	OMIM:610756
3Mc Syndrome	Diastasis recti, Craniosynostosis, Hyperlordosis, Bilateral cryptorchidism, Postnatal growth reta...	ORPHA:293843
Myasthenic Syndrome, Congenital, 16	High palate, Hyperlordosis	OMIM:614198
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Cryptorchidism, Facet joint arthrosis, ...	OMIM:618000
Synpolydactyly 2	Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar...	OMIM:608180
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp...	OMIM:610017
Phenobarbital Embryopathy	Abnormal mitral valve morphology, Tetralogy of Fallot, Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Flynn-Aird Syndrome	Skeletal muscle atrophy, Cachexia, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis	ORPHA:2047
Steel Syndrome	Lumbar hyperlordosis, Short stature, Hip dislocation, Scoliosis, Carpal synostosis, Limited elbow...	OMIM:615155
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Mitochondrial Complex I Deficiency, Nuclear Type 8	Stiff neck, Kyphoscoliosis	OMIM:618230
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Foam cells	OMIM:269600
Loeys-Dietz Syndrome 3	Joint laxity, Protrusio acetabuli, Craniosynostosis, Osteoarthritis, Knee osteoarthritis, Dental ...	OMIM:613795
Split-Foot Malformation With Mesoaxial Polydactyly	1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Sensorineural hea...	OMIM:616890
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Sandhoff Disease	Splenomegaly, Kyphosis, Failure to thrive	ORPHA:796
Emanuel Syndrome	Congenital hip dislocation, Multiple joint contractures, Dental crowding, Congenital diaphragmati...	ORPHA:96170
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Brachydactyly	ORPHA:168796
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac...	OMIM:611588
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy...	ORPHA:49827
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytos...	ORPHA:3226
Seckel Syndrome 8	Short stature, Kyphoscoliosis, Micrognathia	OMIM:615807
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Ataxia-Oculomotor Apraxia Type 4	Progressive distal muscular atrophy, Kyphoscoliosis, Obesity, Muscular dystrophy, Distal lower li...	ORPHA:459033
Rahman Syndrome	Cryptorchidism, Accelerated skeletal maturation, Kyphoscoliosis, Camptodactyly	OMIM:617537
Charcot-Marie-Tooth Disease Type 4D	Upper limb amyotrophy, Distal lower limb muscle weakness, Lower limb amyotrophy, Kyphoscoliosis	ORPHA:99950
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Tented upper lip vermilion, Short neck, Short stature, Thoracolumbar scoliosis, Hyper...	ORPHA:457395
Spastic Paraplegia 20, Autosomal Recessive	Short stature, Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Ankle clonus, Di...	OMIM:275900
Van Maldergem Syndrome 2	Osteopenia, Joint laxity, Sacral dimple, Wide cranial sutures, Tented upper lip vermilion, Irregu...	OMIM:615546
Dental Anomalies And Short Stature	Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Pla...	OMIM:601216
Pleural Mesothelioma	Abnormal pleura morphology, Abnormal lung morphology, Abnormal cardiovascular system physiology, ...	ORPHA:50251
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Hyperlordosis, Cryptorc...	OMIM:234100
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Short stature, Recurrent fractures, Kyphoscoliosis, Grow...	OMIM:163200
Momo Syndrome	Delayed eruption of teeth, Short stature, Large for gestational age, Short neck, Thick lower lip ...	ORPHA:2563
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Distal amyotrophy, Kyphoscoliosis	OMIM:607831
Larsen Syndrome	Cervical kyphosis, Knee dislocation, Spina bifida occulta, Hypoplastic cervical vertebrae, Joint ...	OMIM:150250
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Emanuel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Truncus arteriosus, Patent ductus ar...	OMIM:609029
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Abnormal bone structure, Anemia	ORPHA:46532
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibe...	OMIM:620285
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthritis, Disproportionat...	OMIM:271650
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Scheuermann-like ve...	OMIM:301900
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, High palate, M...	ORPHA:536467
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Non-Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141179
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Intrauterine growth retardation, Scoliosis, Camptodactyly	OMIM:619751
Koolen-De Vries Syndrome	High palate, Widely spaced teeth, Vertebral fusion, Prominent metopic ridge, Short stature, Cleft...	OMIM:610443
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Hyperlordosis, Splenomeg...	OMIM:613327
Cardiac-Urogenital Syndrome	Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C...	OMIM:618280
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron...	ORPHA:244
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy, Intrauterine growth retardation, Failure to thrive	OMIM:618237
Desbuquois Dysplasia 2	Joint laxity, Lumbar hyperlordosis, Severe short stature, Dental crowding, Short neck, Postnatal ...	OMIM:615777
Orofaciodigital Syndrome Xvii	Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me...	OMIM:617926
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short neck, Micrognathia, O...	ORPHA:1427
Frank-Ter Haar Syndrome	Osteopenia, Thin upper lip vermilion, Cortical irregularity, Anterior concavity of thoracic verte...	OMIM:249420
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl...	OMIM:253700
Acrocraniofacial Dysostosis	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Tapered finger, Coxa valga, Conduct...	ORPHA:949
Crisponi/Cold-Induced Sweating Syndrome 1	Facial palsy, Kyphoscoliosis, Short neck, Micrognathia, Narrow mouth, Carious teeth, Trismus, Elb...	OMIM:272430
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Otopalatodigital Syndrome Type 2	Failure to thrive, Increased bone mineral density, Tarsal synostosis, Camptodactyly of finger, Mi...	ORPHA:90652
Charcot-Marie-Tooth Disease, Type 4B2	Distal amyotrophy, Foot dorsiflexor weakness, Kyphoscoliosis	OMIM:604563
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Flexion contracture, Kyphoscoliosis	OMIM:617105
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Lumbar hyperlordosis, Camptodactyly of finger, Wrist swelling, Polyarticular arthropathy, Knee os...	ORPHA:2848
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Osteoarthritis, Flexion...	ORPHA:666
Autism Spectrum Disorder Due To Auts2 Deficiency	Small for gestational age, Short stature, Micrognathia, Kyphosis, Cryptorchidism, Retrognathia, C...	ORPHA:352490
Shashi-Pena Syndrome	Thin upper lip vermilion, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cer...	OMIM:617190
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Abnormal sacroiliac joint morphology, Craniofacial osteoscler...	ORPHA:793
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorc...	OMIM:617796
Ane Syndrome	Multiple joint contractures, Hypogonadotropic hypogonadism, Short stature, Kyphoscoliosis, Cariou...	ORPHA:157954
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Triphalangeal thumb, Bilateral triphalangeal...	OMIM:124480
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Dehydration, Anemia, Cardiomyopathy, Stroke, Neutropenia, Failure to thrive, Thromb...	ORPHA:79312
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Smooth philtrum, Thin upper lip vermilion, Rhizomel...	ORPHA:263508
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Abnormality of the dentition, Kyphosis, Delayed skeletal maturation, Scoliosis, ...	ORPHA:1548
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Broad thumb, Bra...	ORPHA:1278
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis, Congenital fibrosis of extraocular muscles, Thin upper lip vermilion	OMIM:609384
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Distal amyotrophy, Foot dorsiflexor weakness, Limb muscle weakness, Kyphoscoliosis	OMIM:118200
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu...	ORPHA:86812
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal odontoid process morphology, Kyphoscoliosis, Delayed skeletal maturation, Flat acetabula...	ORPHA:2976
Hypertrophic Neuropathy Of Dejerine-Sottas	Kyphoscoliosis, Distal amyotrophy, Tongue fasciculations, Scoliosis, Distal lower limb muscle wea...	OMIM:145900
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Bicuspid aortic valve, Abnormal hand morphology, Clinodactyly of the 5th finger, Short digit, Sho...	ORPHA:228190
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Congenital hip dislocation, Short s...	ORPHA:2962
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Short stature, Obesity, Kyphoscoliosis	ORPHA:3077
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Joint laxity, Genu recurvatum, Craniosynostosis, Micrognathia, Hypoplasia of the maxi...	OMIM:182212
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Limited hip extension, Short neck, Flexion contr...	OMIM:143095
Pelger-Huet Anomaly	Abnormality of neutrophils, Abnormality of the dentition, Kyphosis, Hyposegmentation of neutrophi...	OMIM:169400
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Hip dislocation, Scoliosis	OMIM:300434
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Facial diplegia, Hig...	OMIM:611890
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Kyphoscoliosis, Proportionate short stature, Cryptorchidism, Deep philtrum...	ORPHA:404443
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Limitation o...	OMIM:313400
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac...	OMIM:259420
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Flexion contracture, Patellar hypoplasia, Knee flexion contract...	ORPHA:2614
Mulibrey Nanism	Dental crowding, Short stature, Absent frontal sinuses, Enamel hypoplasia, Hypoplastic frontal si...	OMIM:253250
Heart Defects, Congenital, And Other Congenital Anomalies	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Patent foramen ovale,...	OMIM:600001
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dental maloc...	OMIM:608931
Heart And Brain Malformation Syndrome	Polyhydramnios, Ventricular septal defect, Interrupted aortic arch	OMIM:616920
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Klippel-Feil Syndrome 3, Autosomal Dominant	Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion	OMIM:613702
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Familial Congenital Mirror Movements	Fused cervical vertebrae, Hypogonadotropic hypogonadism	ORPHA:238722
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Upper limb hypertonia, Joint hyperflexibility	ORPHA:319199
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Charcot-Marie-Tooth Disease, Type 4K	Skeletal muscle atrophy, Kyphoscoliosis	OMIM:616684
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Persi...	OMIM:619151
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Short stature, Autoimmune t...	ORPHA:1855
Heterotaxy, Visceral, 1, X-Linked	Polyhydramnios, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal ...	OMIM:306955
Weismann-Netter Syndrome	Severe short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Abnormal cortic...	ORPHA:3344
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Premature ovarian insufficiency, Short stature, Kyphosis, High, narrow palate, Obesity, Scoliosis...	OMIM:618124
Spinocerebellar Ataxia Type 27	Akinesia, Tremor, Limb ataxia, Hand tremor, Gait ataxia, Gait disturbance, Difficulty walking, Tr...	ORPHA:98764
Oculoskeletodental Syndrome	Short stature, Hyperlordosis, Abnormality of the dentition, Delayed skeletal maturation, Oligodon...	ORPHA:557003
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology	ORPHA:1110
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Spina bifida occulta, Bi...	OMIM:300373
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Short stature, Elbow dislocation, Anterior vertebral fusion, Shoulder dislocation, Radioulnar syn...	OMIM:171480
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Short stature, Narrow mouth, Growth delay, Downturned corners of mouth, Wide mouth, Long philtrum...	OMIM:617333
Transaldolase Deficiency	Pancytopenia, Ventricular septal defect, Small for gestational age, Thrombocytopenia, Splenomegal...	OMIM:606003
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Congenital Toxoplasmosis	Failure to thrive in infancy, Cardiomegaly, Lymphadenopathy, Anemia, Ascites, Thrombocytopenia	ORPHA:858
Intellectual Developmental Disorder, Autosomal Dominant 26	Small for gestational age, Short stature, Micrognathia, Kyphosis, Deep philtrum, Wide mouth, Shor...	OMIM:615834
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Short stature, Short neck, Open bite, Spleno...	OMIM:115150
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc...	ORPHA:169186
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Dehydration, Leukopenia, Bone marrow hypocellularity, Thromb...	OMIM:243500
Roifman Syndrome	Hip contracture, Biconvex vertebral bodies, Thin upper lip vermilion, Hypogonadotropic hypogonadi...	ORPHA:353298
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Wide mouth, Truncal obesity, Short phi...	ORPHA:2429
Cri-Du-Chat Syndrome	Microretrognathia, Small for gestational age, Diastasis recti, Short neck, Cryptorchidism, Thick ...	OMIM:123450
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Small for gestational...	ORPHA:2255
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short stature, Short nec...	OMIM:613686
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid pr...	OMIM:300232
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Rhizomelia, Hyperlordosis, Abnormal form of the vertebral bodies, Genu valgum	ORPHA:2831
Rapidly Involuting Congenital Hemangioma	Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges...	ORPHA:141184
Klippel-Feil Syndrome 1, Autosomal Dominant	Congenital muscular torticollis, Short neck, Cleft palate, Scoliosis, Cervical C2/C3 vertebral fu...	OMIM:118100
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Branchiogenic Deafness Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens...	ORPHA:50815
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Kyphoscoliosis, Protruding tongue, Postnatal growth retardation, Kyphosis,...	OMIM:301040
Clark-Baraitser syndrome	Joint laxity, Exaggerated median tongue furrow, Genu recurvatum, Kyphosis, Thick lower lip vermil...	OMIM:300602
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Tremor, Schistocytosis, Elevated circulating creatinine concentration, Microangi...	OMIM:274150
Smith-Mccort Dysplasia 2	Mandibular prognathia, Enlarged interphalangeal joints, Short stature, Hyperlordosis, Short neck,...	OMIM:615222
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Short stature, Kyphoscoliosis, Postnatal growth retardation, Cryptorchi...	OMIM:612513
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Brachydactyly	OMIM:615982
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Reduced bone mineral density, Genu valgum, Downturned corners of mouth, Thi...	ORPHA:2983
Myotonia Permanens	Short stature, Hyperlordosis, Generalized muscle hypertrophy, Limitation of joint mobility, Skele...	ORPHA:99735
Warburg Micro Syndrome 3	Decreased muscle mass, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexion contra...	OMIM:614222
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Short stature, Recurrent fractures, Postnata...	OMIM:616294
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Elbow dislocation, Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia o...	ORPHA:3236
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Block vertebrae, Tarsal synostosis, Hyperlordosis, Short neck...	OMIM:272460
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Diastema, Short neck, Dental malocclusion, Malar flattening	ORPHA:436245
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough,...	ORPHA:724
Proteus-Like Syndrome	Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Open bite, Splenomegaly, Hyperostosis	ORPHA:2969
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Short neck, Neutropenia, Microdontia, Lumbar hyperlordosis, Short statu...	ORPHA:1830
Classical-Like Ehlers-Danlos Syndrome Type 2	Joint dislocation, Osteopenia, Thoracic scoliosis, Micrognathia, Knee dislocation, Shoulder dislo...	ORPHA:536532
Monosomy 18P	Short stature, Kyphoscoliosis, Micrognathia, Short neck, Carious teeth, Cleft palate, Downturned ...	ORPHA:1598
Multiple Epiphyseal Dysplasia, Beighton Type	Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Short stature, Joint stiffness...	ORPHA:166011
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Joubert Syndrome 23	Sensorineural hearing impairment, Tachypnea, Polydactyly, Apnea	OMIM:616490
Chromosome 10Q26 Deletion Syndrome	Thin upper lip vermilion, Scapular winging, Congenital hip dislocation, Lumbar hyperlordosis, Sma...	OMIM:609625
Epiphyseal Dysplasia, Multiple, 6	Abnormality of the knee, Osteoarthritis, Schmorl's node, Irregular vertebral endplates, Intervert...	OMIM:614135
Muenke Syndrome	Capitate-hamate fusion, Dental malocclusion, High palate, Malar flattening, Coronal craniosynostosis	OMIM:602849
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis	OMIM:300886
Takenouchi-Kosaki Syndrome	Smooth philtrum, Thin upper lip vermilion, Increased mean platelet volume, Cryptorchidism, Dental...	OMIM:616737
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fract...	OMIM:259710
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Limited elbow moveme...	OMIM:101200
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Accelerated skeletal maturation, Kyphosis, Disproportionate...	ORPHA:1354
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Short neck, Kyphosis, Cryptorchidism, Flexion contracture, High palate, Scoliosis, Arthrogryposis...	ORPHA:178148
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Small hypothenar eminence, Lumbar hyperlordosis, Streak ova...	ORPHA:2232
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Small for gestational age, Polyhydramnios, Abnormal left ventricular f...	OMIM:301056
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss	ORPHA:64741
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Thoracic kyphosis, Multicentric ossification of proximal femor...	OMIM:223800
Cdkl5-Deficiency Disorder	Kyphosis, Deep philtrum, Growth delay, Thick vermilion border, Everted lower lip vermilion, Scoli...	ORPHA:505652
Recombinant Chromosome 8 Syndrome	Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou...	OMIM:179613
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Recurrent joint dislocation, Decreased muscle mass, ...	ORPHA:2953
Calvarial Hyperostosis	Calvarial hyperostosis	OMIM:302030
Joubert Syndrome 37	Prominent metopic ridge, Lumbar hyperlordosis, Short stature, Cryptorchidism, Obesity, High palat...	OMIM:619185
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Short stature, Craniosynostosis, Hyperlordosis, Prominent crus o...	ORPHA:794
Branchiogenic-Deafness Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Atresia of the external auditory cana...	OMIM:609166
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Failure to thrive, Thrombocytopenia	ORPHA:67048
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis, Abnor...	OMIM:128100
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Multiple prenatal fractures, N...	OMIM:618644
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Abnormality of th...	ORPHA:906
Wildervanck Syndrome	Fused cervical vertebrae	OMIM:314600
Cartilage-Hair Hypoplasia	Short neck, Accelerated skeletal maturation, Abnormal form of the vertebral bodies, Abnormal bone...	ORPHA:175
Velocardiofacial Syndrome	Ventricular septal defect, Interrupted aortic arch, Unilateral primary pulmonary dysgenesis, Pulm...	OMIM:192430
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Large for gestational age, Micrognathia, Cuboid-shaped vertebra...	OMIM:612731
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis, Long philtrum	OMIM:619467
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, T lymphocytopenia, Decrease...	ORPHA:508533
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Zimmermann-Laband Syndrome 3	Kyphosis, Flexion contracture, Thick lower lip vermilion, Gingival overgrowth, High palate, Bifid...	OMIM:618658
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short stature, Micrognathia, Capitate-hamate fusion, Radial head subluxation, Cleft palate, Genu ...	OMIM:614078
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Short stature, Craniosy...	OMIM:213980
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Joint laxity, Short stature, Hyperlordosis, Micrognathia, Wide mouth, High palate, Short philtrum...	OMIM:300986
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Bardet-Biedl Syndrome 19	Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxial foot polydactyly, Hypogonad...	OMIM:615996
Mosaic Trisomy 20	Vertebral fusion, Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Spinal canal stenosis, Cleft...	ORPHA:1724
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi...	ORPHA:93357
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the knee, Severe short stature, Cleft soft palate, Kyphoscoliosis, Micrognathia, D...	ORPHA:93316
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Coarctation of aorta, ...	OMIM:620210
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal aortic morphology, Abnormal ...	ORPHA:3405
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Increased intervertebral space, Thoracic platyspondyly, Beaking of vertebral bodies, Lumbar platy...	OMIM:618961
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilia, Keratitis, Clubbing, Bronchiectasis, Hip dislocation, Recurrent otitis medi...	OMIM:618523
Keipert Syndrome	Broad hallux, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad thumb, Brachydac...	OMIM:301026
Jansen-De Vries Syndrome	Thin upper lip vermilion, Short stature, Hyperlordosis, Central diaphragmatic hernia, Wide mouth	OMIM:617450
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Short stature, Proportionate short stature, Distal tibial bowing, Genu valg...	OMIM:156500
Au-Kline Syndrome	Prominent metopic ridge, Sacral dimple, Thoracolumbar scoliosis, Sagittal craniosynostosis, Crani...	OMIM:616580
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Ullrich Congenital Muscular Dystrophy 1	Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist...	OMIM:254090
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Anemi...	ORPHA:163979
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Diffuse Neonatal Hemangiomatosis	Polyhydramnios, Patent ductus arteriosus, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Cockayne Syndrome B	Mandibular prognathia, Severe short stature, Small for gestational age, Delayed eruption of prima...	OMIM:133540
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Kyphoscoliosis, Hyposegmentation of neutrop...	OMIM:620075
Pfeiffer Syndrome	Mandibular prognathia, Short stature, Hyperlordosis, Short neck, High palate, Short philtrum, Hyp...	ORPHA:710
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Enlarged joints, Short stature, Micrognathia, Premature osteoarthritis, Fle...	OMIM:215150
Kniest Dysplasia	Hip contracture, Enlarged joints, Rhizomelia, Tracheomalacia, Short neck, Delayed epiphyseal ossi...	OMIM:156550
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, Osteoporosis, Scoliosis, Narrow mouth, M...	OMIM:615381
Mucopolysaccharidosis, Type X	Hyperlordosis, Diastema, Open bite, Disproportionate short-trunk short stature, Genu valgum, Plat...	OMIM:619698
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect	OMIM:617516
Acromicric Dysplasia	Short metacarpal, Small hand, Abnormal femur morphology, Abnormal epiphysis morphology, Short pal...	ORPHA:969
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:453504
Reticular Dysgenesis	Recurrent respiratory infections, Abnormality of neutrophils, Dehydration, Weight loss, Leukopeni...	ORPHA:33355
Hemophagocytic Lymphohistiocytosis, Familial, 4	Edema, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Bifi...	ORPHA:352665
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Thr...	OMIM:613011
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Conical tooth, Anemia, Neutropenia, Tooth malpos...	OMIM:617475
Eosinophilic Fasciitis	Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis	ORPHA:3165
Cockayne Syndrome A	Mandibular prognathia, Hip contracture, Short stature, Delayed eruption of primary teeth, Carious...	OMIM:216400
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Short stature, Rhizomelia, Short neck, Micrognathia, Kyphosis, Abnormali...	ORPHA:3098
Trichorhinophalangeal Syndrome Type 1	Short stature, Camptodactyly of finger, Hyperlordosis, Avascular necrosis of the capital femoral ...	ORPHA:77258
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Postnatal growth retardation, Platyspondyly, Scoliosis, Genu varum	OMIM:618728
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos...	OMIM:220210
Congenital Contractural Arachnodactyly	Congenital kyphoscoliosis, Camptodactyly of finger, Joint stiffness, Flexion contracture, Congeni...	ORPHA:115
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, D...	OMIM:619797
Idiopathic Juvenile Osteoporosis	Recurrent fractures, Kyphosis, Osteoporosis, Bone pain, Vertebral compression fracture	ORPHA:85193
Bardet-Biedl Syndrome 22	Large for gestational age, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly	OMIM:617119
Arthrogryposis, Distal, Type 4	Osteopenia, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal art...	OMIM:609128
Aceruloplasminemia	Refractory anemia, Torticollis, Decreased circulating ceruloplasmin concentration, Ataxia, Decrea...	ORPHA:48818
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Foot joint contracture, Short neck...	ORPHA:444072
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Small for gestational age, Upper limb asymmetry, Protruding ear, Polydactyly, Decreased body weig...	ORPHA:231140
Smith-Mccort Dysplasia 1	Multicentric femoral head ossification, Short stature, Short neck, Hypoplasia of the odontoid pro...	OMIM:607326
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Small for gestation...	OMIM:268400
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Failure to thrive in infancy, Short ...	OMIM:613385
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Bone pain, Anemia, Thrombocytopenia	OMIM:610539
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l...	OMIM:230650
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Vestibulocochlear Dysfunction, Progressive	Vestibular areflexia, Tinnitus, Progressive hearing impairment	OMIM:193005
Proteus Syndrome	Decreased muscle mass, Thymus hyperplasia, Macroorchidism, Abnormal dental enamel morphology, Cra...	ORPHA:744
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Down...	OMIM:194190
Schaaf-Yang Syndrome	Mandibular prognathia, Failure to thrive in infancy, Short stature, Abnormality of the philtrum, ...	OMIM:615547
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Macrodontia, Hyperlordosis, Mic...	OMIM:618443
Osteogenesis Imperfecta, Type Xxii	Short stature, Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractur...	OMIM:619795
Deafness, Autosomal Dominant 2A	Tinnitus, Hearing impairment	OMIM:600101
Deafness, Autosomal Dominant 58	Tinnitus, Hearing impairment	OMIM:615654
Caudal Regression Syndrome	Decreased muscle mass, Joint stiffness, Cryptorchidism, Aplasia/Hypoplasia of the sacrum, Orofaci...	ORPHA:3027
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Kyphoscoliosis, Clef...	OMIM:109400
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa...	OMIM:271700
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Ventricular septal defect, Parachute mitral valve, Patent ductu...	OMIM:618316
Combined Oxidative Phosphorylation Deficiency 32	Joint contracture, Kyphoscoliosis	OMIM:617664
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Macrocytic anemia, Failure to thrive, Ventricular septal defect, Patent ...	OMIM:612561
Zimmermann-Laband Syndrome	Short neck, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palate,...	ORPHA:3473
Charlie M Syndrome	Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly	ORPHA:1406
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25...	OMIM:619802
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu...	ORPHA:1782
Eosinophilopenia	Decreased eosinophil count, Allergic rhinitis	OMIM:131430
Hamamy Syndrome	Osteopenia, Thin upper lip vermilion, Recurrent fractures, Craniosynostosis, Microcytic anemia, M...	OMIM:611174
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing...	ORPHA:3210
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Thin upper lip vermilion, Severe short stature, Kyphoscoliosis, Severe generaliz...	OMIM:210730
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Small for gestational age, Ovoid verte...	OMIM:260400
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia, Failure to thrive, Short stature, Scoliosis	OMIM:616577
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer...	OMIM:605376
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Short metatarsal, Fibular hyp...	OMIM:228900
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Cryptorchidism, Polydactyly, Low-set ears, Conductive hearing impairment, Hypoplastic ischia	OMIM:616910
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Pericardial effusion, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, Brachydactyly	OMIM:614684
Wolcott-Rallison Syndrome	Dehydration, Iron deficiency anemia, Ascites, Lymphocytosis, Neutropenia, Atrial septal defect, D...	ORPHA:1667
Mevalonic Aciduria	Normocytic hypoplastic anemia, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Fluct...	OMIM:610377
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Facial palsy, Generalized osteosclerosis, Cranial hyperostosis, Abnormal c...	ORPHA:3416
Igg4-Related Aortitis	Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Weight loss, Ascend...	ORPHA:449400
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae,...	ORPHA:96121
Terminal Osseous Dysplasia	Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh...	OMIM:300244
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Hydrops fetalis, Intracranial hemorrhage, ...	ORPHA:85212
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, High, narrow palate, Dental malocclusion	OMIM:619692
Gaucher Disease, Type Iii	Pancytopenia, Splenomegaly, Thrombocytopenia, Decreased body weight, Vascular calcification	OMIM:231000
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis,...	ORPHA:3063
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Mandibular prognathia, Prominent metopic ridge, Kyphosis, Cleft palate, Decreased circulating ant...	ORPHA:85317
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Neuropathic spinal arthropathy, Dental crowding, Kyphoscoliosis, Deep philtrum, Hepatosplenomegal...	ORPHA:397709
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased...	OMIM:259770
Atelis Syndrome 1	Ventricular septal defect, Bronchiectasis, Anemia, Leukopenia, Atrial septal defect, Thrombocytop...	OMIM:620184
Congenital Rubella Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Anemia, Atrial septal defect, ...	ORPHA:290
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Hyperlordosis, Abnormal joint morphology, Amenorrhea, Hyp...	ORPHA:3130
Fountain Syndrome	Craniofacial hyperostosis, Short stature, Kyphosis, Thick lower lip vermilion, Gingival overgrowt...	ORPHA:3219
Charcot-Marie-Tooth Disease, Type 4A	Distal amyotrophy, Kyphoscoliosis	OMIM:214400
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Kyphosis, Disproportionate short statu...	ORPHA:15
Congenital Disorder Of Glycosylation, Type Ih	Edema, Patent ductus arteriosus, Anemia, Ascites, Perimembranous ventricular septal defect, Neona...	OMIM:608104
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia...	OMIM:619313
Sengers Syndrome	Osteopenia, Premature ovarian insufficiency, Growth delay, Myopathy, Thrombocytopenia	OMIM:212350
Chronic Intestinal Pseudoobstruction	Abnormal platelet morphology	ORPHA:2978
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Short st...	ORPHA:97360
Cardiac-Valvular Ehlers-Danlos Syndrome	Joint dislocation, Genu recurvatum, Recurrent shoulder dislocation, Thoracolumbar scoliosis, Kyph...	ORPHA:230851
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Kyphoscoliosis, Short neck, Acanthocytosis, Micrognathia, Flexion contracture,...	OMIM:618947
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Muscular Dystrophy, Duchenne Type	Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, K...	OMIM:310200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Mandibular prognathia, Kyphoscoliosis, Protruding tongue, Contractures of the large joints, Evert...	ORPHA:324410
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Recurrent respiratory infections, Failure to thrive in infancy, Cervical lymphadenopathy, B lymph...	OMIM:618987
Familial Tumoral Calcinosis	Calcification of muscles, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva,...	ORPHA:53715
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den...	OMIM:614669
Chromosome 15Q26-Qter Deletion Syndrome	Abnormal cardiac septum morphology, Short middle phalanx of finger, Talipes equinovarus, Brachyda...	OMIM:612626
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Thoracic he...	OMIM:268310
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexi...	OMIM:619040
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Diastema, Kyphosis, Cryptorchidis...	OMIM:619718
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Short stature, Postnatal growth retardation, Thrombocytopenia, Osteoporosis, Genu val...	OMIM:612199
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia, Moyamoya phenomenon	OMIM:615750
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the lowe...	ORPHA:88630
Kbg Syndrome	Vertebral fusion, Tented upper lip vermilion, Short stature, Macrodontia, Short neck, Cryptorchid...	OMIM:148050
Wilson Disease	Back pain, Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Bone pain, Increas...	ORPHA:905
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Irregular menstruation, Obesity, P...	OMIM:615986
Fucosidosis	Cervical platyspondyly, Absent/hypoplastic paranasal sinuses, Lumbar hyperlordosis, Short stature...	OMIM:230000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Abnormal pleura morphology, Myocardial fibrosis, Hepatosplenomegaly, Bone ma...	ORPHA:210136
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Oligodontia, Spina bifida occulta, Wrist flexion contractur...	ORPHA:1826
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Coarctation of aorta, Normochromic anemia, Neutropenia, Atrial septal d...	OMIM:614857
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e...	OMIM:618775
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Short stature, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Cleft lip, Dent...	OMIM:616894
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Scolio...	OMIM:619574
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Abdominal obesity, Muscular dystrophy, L...	OMIM:615980
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Rhizomelia, Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Th...	OMIM:618019
Follicular Lymphoma	Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Pleural effu...	ORPHA:545
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Bilateral trilobed lung, Right atrial isomerism, Ventricular septal d...	OMIM:270100
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Aredyld Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog...	ORPHA:1133
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Joint laxity, Mandibular prognathia, Short stature, Kyphosis, Crypt...	OMIM:300354
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Osteogenesis Imperfecta, Type Iv	Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibi...	OMIM:166220
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pharyngi...	OMIM:308240
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Edema, Recurrent pneumonia, Abnormal pulmonary interstitial morphology, Hepatosplen...	OMIM:619644
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle...	OMIM:614954
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Kagami-Ogata Syndrome	Diastasis recti, Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Splenomegaly, Flexion c...	OMIM:608149
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Delayed epiphyseal ossification, Fragmented epip...	ORPHA:166016
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Cr...	OMIM:615419
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Cryptorchidism	OMIM:618512
Cerebellofaciodental Syndrome	Short stature, Short neck, Cryptorchidism, Delayed skeletal maturation, Dental malocclusion, Genu...	OMIM:616202
Charcot-Marie-Tooth Disease, Type 4D	Distal amyotrophy, Claw hand deformity, Kyphoscoliosis	OMIM:601455
15Q24 Microdeletion Syndrome	Joint laxity, Small for gestational age, Short stature, Congenital diaphragmatic hernia, Abnormal...	ORPHA:94065
Ruvalcaba Syndrome	Short stature, Dental crowding, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Limited elb...	OMIM:180870
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Kyphoscol...	OMIM:253200
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Lumbar hyperlordosis, Ovoid vertebral bodies, Flat acetabular roof, Platyspondyly, Disproportiona...	OMIM:608728
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Scoliosis	ORPHA:816
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Joint stiffness, Osteoarthritis, Platyspondyly, Avascula...	ORPHA:1345
Wt Limb-Blood Syndrome	Pancytopenia, Micrognathia, Cryptorchidism, Retrognathia, Radioulnar synostosis, Joint contractur...	OMIM:194350
Dystonia-Deafness Syndrome 1	Cleft palate, Small for gestational age, Kyphoscoliosis, Cleft upper lip	OMIM:607371
Craniometaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Dental crowding, Facial palsy, Cranial hyperostosis, Sclerosis of skull ba...	OMIM:123000
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Tremor, Unsteady gait, Blepharospasm, Falls, Gait imbalance, Loss of ...	ORPHA:240094
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Dental crowding, Micrognathia, Ragged-red muscle fibers, High palate, General...	OMIM:620351
20P13 Microdeletion Syndrome	Finger syndactyly, Posteriorly rotated ears, Abnormal pinna morphology, Failure to thrive in infa...	ORPHA:313781
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosis	ORPHA:3454
Primary Dystonia, Dyt4 Type	Eunuchoid habitus, Torticollis, Kyphoscoliosis, Movement abnormality of the tongue, Open mouth	ORPHA:98805
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Congenital Gerbode Defect	Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho...	ORPHA:99095
Parkinson Disease 17	Tremor, Resting tremor, Akinesia	OMIM:614203
Multiple Epiphyseal Dysplasia Type 4	Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Arthralgia of the hi...	ORPHA:93307
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation, Joint subluxat...	OMIM:617821
Autosomal Recessive Spondylocostal Dysostosis	Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Congenital diaph...	ORPHA:2311
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lym...	OMIM:603909
Microphthalmia, Lenz Type	Delayed eruption of teeth, Short stature, Camptodactyly of finger, Abnormal dental morphology, Hy...	ORPHA:568
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Short stature, Bilateral cryptorchidis...	ORPHA:3042
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Scoliosis, Skeletal muscle atrophy	ORPHA:101078
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Edema, Microcytic anemia, Venous i...	ORPHA:90308
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Elbow flexion contracture, Dental malocclusion, K...	ORPHA:2920
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S...	ORPHA:289176
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Accelerated skeletal...	OMIM:602535
Mirage Syndrome	Hypergonadotropic hypogonadism, Short stature, Thrombocytopenia, Radial club hand, Cryptorchidism...	OMIM:617053
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Hypergonadotropic hypogonadism, Short stature, Centrally nucleated skele...	OMIM:248800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Lymphopenia, Pulmonary insufficiency, Absence of lymph node germinal center, Recurrent upper resp...	ORPHA:277
Tetrasomy 15Q26	Microretrognathia, Kyphoscoliosis, High palate, Camptodactyly, Intrauterine growth retardation	OMIM:614846
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba...	OMIM:250250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Congenital Fiber-Type Disproportion Myopathy	Congenital hip dislocation, Dental crowding, Micrognathia, Flexion contracture, Knee flexion cont...	ORPHA:2020
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Felty Syndrome	Recurrent respiratory infections, Pericarditis, Splenomegaly, Recurrent pharyngitis, Recurrent pn...	ORPHA:47612
Wrinkly Skin Syndrome	Osteopenia, Delayed eruption of teeth, Decreased muscle mass, Congenital hip dislocation, Short s...	ORPHA:2834
Autosomal Recessive Spastic Paraplegia Type 25	Cervical spondylosis, Upper limb pain, Abnormal lumbar spine morphology, Herniation of interverte...	ORPHA:101005
X-Linked Mandibulofacial Dysostosis	Abnormal mitral valve morphology, Branchial anomaly, Pulmonic stenosis, Webbed neck	ORPHA:1131
Episodic Ataxia Type 1	Calf muscle hypertrophy, Kyphoscoliosis, Scoliosis	ORPHA:37612
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a...	OMIM:608978
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Leukopenia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:229050
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest...	ORPHA:2326
Bor Syndrome	Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of the cochlea, Atr...	ORPHA:107
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Polyhydramnios, Asplenia, Patent...	OMIM:164280
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Wildervanck Syndrome	Fused cervical vertebrae, Facial palsy, Short neck	ORPHA:3456
Shwachman-Diamond Syndrome	Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Sinusitis, Oral ulcer, Leu...	ORPHA:811
Atypical Juvenile Parkinsonism	Resting tremor, Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Dystonia, Short stepped...	ORPHA:391411
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Smooth philtrum, Thin upper lip vermilion, Tented upper lip vermilion, Increased mean platelet vo...	ORPHA:487796
Fanconi Anemia, Complementation Group I	Short stature, Short neck, Neutropenia, Fused cervical vertebrae, Bone marrow hypocellularity, De...	OMIM:609053
Acrocardiofacial Syndrome	Ventricular septal defect, Mitral stenosis, Coarctation of aorta, Atrial septal defect, Truncus a...	ORPHA:2008
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Kleefstra Syndrome 2	Kyphosis, Growth delay, Everted lower lip vermilion, Scoliosis, Bifid uvula	OMIM:617768
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Presynaptic Congenital Myasthenic Syndromes	Neuropathic spinal arthropathy, Joint laxity, Microretrognathia, Congenital hip dislocation, Kyph...	ORPHA:98914
Congenital Myasthenic Syndrome	Neuropathic spinal arthropathy, Joint laxity, Microretrognathia, Congenital hip dislocation, Kyph...	ORPHA:590
Crisponi Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Limitation of joint mobility, Flexion contractur...	ORPHA:1545
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia	ORPHA:100024
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Galloway-Mowat Syndrome 7	Short stature, Kyphoscoliosis, Micrognathia, Cleft lip, Cleft palate, High palate, Cubitus valgus...	OMIM:618348
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the patella, Micrognathia, Hip dislocation, Cleft palate, Fused cervical ve...	ORPHA:3320
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Edema, Angioedema, Intracranial hemorrhage, Stroke...	ORPHA:449285
Monosomy 18Q	Mandibular prognathia, Short stature, Kyphoscoliosis, Bilateral cryptorchidism, Delayed skeletal ...	ORPHA:1600
Tuberculosis	Abnormal lung morphology, Weight loss	ORPHA:3389
Weill-Marchesani Syndrome	Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly	ORPHA:3449
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short stature, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Osteopenia, Hyperlordosis, Thin lower lip vermilion, Abnormal T cell subset distribution, Decreas...	ORPHA:221139
Kaposiform Lymphangiomatosis	Abnormal thoracic spine morphology, Metrorrhagia, Thrombocytopenia, Abnormal sacrum morphology, S...	ORPHA:464329
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Giant Cell Arteritis	Pericarditis, Abnormality of thrombocytes, Sudden cardiac death, Epistaxis, Abnormal pleura morph...	ORPHA:397
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Postaxial polydactyly	OMIM:213010
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Hyperlordosis, Cleft...	ORPHA:3253
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Mandibular prognathia, Facial hypotonia, Genu recurvatum, Short stature, Malar flat...	ORPHA:364028
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel h...	OMIM:211900
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Immunodeficiency 27A	Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged...	OMIM:209950
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Brachytelomesophalangy, Abnorma...	ORPHA:2619
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Vertebral fusion, S...	OMIM:139210
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of ...	OMIM:277600
Localized Scleroderma	Skeletal muscle atrophy, Abnormality of the dentition, Flexion contracture, Dental malocclusion, ...	ORPHA:90289
Systemic Capillary Leak Syndrome	Pericarditis, Myocarditis, Leukocytosis, Pedal edema, Weight loss, Pleural effusion, Hypotension,...	ORPHA:188
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Dehydration, Cardiomyopathy, Leukopenia, Anemia	ORPHA:27
Leri Pleonosteosis	Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal epiphysis morpho...	ORPHA:2900
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, ...	ORPHA:98850
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ...	OMIM:620135
Faciodigitogenital Syndrome, Autosomal Recessive	Vertebral fusion, Proportionate short stature, Cryptorchidism, Deep philtrum, Trismus, Hyperexten...	OMIM:227330
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Arthrogryposis And Ectodermal Dysplasia	Skeletal muscle atrophy, Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft ...	OMIM:601701
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Myocardial infarction, Stroke, Microangiopathic hemolytic anemia, Arrhythmia, Th...	ORPHA:54057
Kaposi Sarcoma	Generalized lymphadenopathy, Lymphedema, Venous insufficiency, Abnormality of the spleen, Abnorma...	ORPHA:33276
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Knee pain	OMIM:614441
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	Brachydactyly	OMIM:618879
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
9Q21.13 Microdeletion Syndrome	Craniosynostosis, Postnatal growth retardation, Cryptorchidism, Abnormal tongue morphology, Downt...	ORPHA:531151
Loeys-Dietz Syndrome 5	Smooth philtrum, Decreased muscle mass, Scapular winging, Failure to thrive in infancy, Short sta...	OMIM:615582
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Short stature, Carious teeth, Cryptorchidism, Delayed sk...	ORPHA:2701
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Autosomal Recessive Spastic Paraplegia Type 23	Short stature, Hip dislocation, Kyphoscoliosis	ORPHA:101003
Bone Marrow Failure Syndrome 3	Congenital hip dislocation, Aplastic anemia, Micrognathia, Oral ulcer, Reduced bone mineral densi...	OMIM:617052
Immunodeficiency 62	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Bronchiectasis, Increa...	OMIM:618459
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia...	ORPHA:363417
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly...	OMIM:126550
Distal Deletion 10Q	Thin upper lip vermilion, Prominent metopic ridge, Lumbar hyperlordosis, Scapular winging, Failur...	ORPHA:96148
Methylcobalamin Deficiency Type Cble	Pancytopenia, Macrocytic anemia, Postnatal growth retardation, Osteoporosis, Lower limb hypertoni...	ORPHA:2169
Odontochondrodysplasia 1	Death in infancy, Short metacarpal, Brachydactyly, Micromelia, Metaphyseal widening, Flat acetabu...	OMIM:184260
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Congenital kyphoscoliosis, Short...	ORPHA:536545
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Neonatal Lupus Erythematosus	Prolonged QT interval, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block, Thrombocytop...	ORPHA:398124
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Micrognathia, Postnatal growth retardation, Obesity, High palate, Short philtrum, Scoliosis, Intr...	ORPHA:254531
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Recurrent upper respiratory tract infections, Abnormal pulmonary ...	OMIM:613101
Necrotizing Enterocolitis	Shock, Small for gestational age, Edema, Leukocytosis, Abnormal heart morphology, Bradycardia, Hy...	ORPHA:391673
Rothmund-Thomson Syndrome	Osteopenia, Aplastic anemia, Selective tooth agenesis, Reduced bone mineral density, Neutropenia,...	ORPHA:2909
Spastic Paraplegia 46, Autosomal Recessive	Kyphosis, Ankle clonus, Infertility, Scoliosis, Limb muscle weakness, Lower limb muscle weakness	OMIM:614409
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development	Kyphoscoliosis	OMIM:618339
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck, Platyspondyly,...	OMIM:612813
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent lower respiratory ...	OMIM:613501
Camurati-Engelmann Disease	Mandibular prognathia, Skeletal muscle atrophy, Increased bone mineral density, Lower limb pain, ...	OMIM:131300
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita...	ORPHA:89936
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Kyphoscoliosis	ORPHA:96190
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Joint laxity, Lumbar hyperlordosis, Short stature, Bilateral camptodactyly, Lumbar kyp...	OMIM:619234
Facioscapulohumeral Dystrophy	Skeletal muscle atrophy, Hyperlordosis	ORPHA:269
Congenital Enterovirus Infection	Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,...	ORPHA:292
Dyskeratosis Congenita	Short stature, Recurrent fractures, Abnormality of neutrophils, Abnormality of the dentition, Hyp...	ORPHA:1775
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Postural tremor, Akinesia, Dystonia, Freezing of gait	OMIM:619911
Osteopetrosis, Autosomal Recessive 8	Facial palsy, Splenomegaly, Anemia, Osteopetrosis, Failure to thrive, Thrombocytopenia	OMIM:615085
Pycnodysostosis	Persistent open anterior fontanelle, Increased bone mineral density, Short stature, Delayed erupt...	OMIM:265800
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Scapular winging, Micrognathia, Hyperlordosis, Dental malocclusion, Loc...	ORPHA:73223
Cockayne Syndrome Type 1	Ataxia, Scarring, Foot joint contracture, Tremor, Gait disturbance, Difficulty walking, Increased...	ORPHA:90321
22Q11.2 Deletion Syndrome	Polyhydramnios, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus...	ORPHA:567
Spinal Arteriovenous Metameric Syndrome	Abnormality of the vertebral column, Bone pain, Kyphoscoliosis	ORPHA:53721
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Osteopenia, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Mi...	ORPHA:221016
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Martsolf Syndrome 1	Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Short stat...	OMIM:212720
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Leukopenia, Neutropenia, Failure to thrive, T...	OMIM:251000
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Leukopenia, Pleuritis, Thrombocytopenia	OMIM:152700
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Dextrocardia, Situs i...	OMIM:615994
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m...	ORPHA:453499
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Short stature, Micrognathia, Postnatal growth retardation, Cryptorchid...	ORPHA:96184
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E...	OMIM:618138
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Rhabdoid Tumor	Weight loss, Anemia, Hypertension, Lymphadenopathy, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Odontotrichoungual-Digital-Palmar Syndrome	Brachydactyly, Single transverse palmar crease, Short first metatarsal, Prominent interdigital fo...	OMIM:601957
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Brachydactyly	OMIM:613819
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge...	OMIM:615559
Rubinstein-Taybi Syndrome 2	Short stature, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow palate, High ...	OMIM:613684
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e...	OMIM:617638
Congenital Myopathy 13	Skeletal muscle atrophy, Short stature, Kyphoscoliosis, Micrognathia, Fatty replacement of skelet...	OMIM:255995
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Brachydactyly	OMIM:610498
Rothmund-Thomson Syndrome Type 1	Osteopenia, Aplastic anemia, Patellar hypoplasia, Neutropenia, Microdontia, Genu varum, Calcinosi...	ORPHA:221008
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to ...	OMIM:163950
Alexander Disease	Osteopenia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis, Failure to...	ORPHA:58
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis, Slender build	OMIM:300676
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Transient ischemic attack, Myocardial infarction, Pulmonary embo...	ORPHA:464343
Multiple Synostoses Syndrome 1	Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin...	OMIM:186500
Spinocerebellar Ataxia Type 21	Tremor, Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Indomethacin Embryofetopathy	Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios	ORPHA:1909
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Joint hyperflexibility	OMIM:614898
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Zimmermann-Laband Syndrome 2	Short stature, Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick verm...	OMIM:616455
Acrocephalopolydactyly	Limb undergrowth, Short long bone, Brachydactyly	ORPHA:221054
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Cranial hyperostosis, Dental malocclusion, Diaphysea...	OMIM:259730
Gillespie Syndrome	Truncus arteriosus	OMIM:206700
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Malar flattening, Short stature, Widely spaced teeth, Dental malocclusion	OMIM:616108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Momo Syndrome	Delayed eruption of teeth, Short neck, Delayed skeletal maturation, Thick lower lip vermilion, De...	OMIM:157980
Immunodeficiency 32B	Recurrent respiratory infections, Neutrophilia, Eosinophilia, Pneumonia, Splenomegaly, Bronchiect...	OMIM:226990
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Ky...	OMIM:309350
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Mild short stature, High palate, Dental malocclusion	OMIM:618292
Spinal Muscular Atrophy, Type I	Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect	OMIM:253300
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Atrial septal defect...	ORPHA:921
Silver-Russell Syndrome Due To A Point Mutation	Syndactyly, Small for gestational age, Dysmenorrhea, Cryptorchidism, Asthma, Short 5th finger, Po...	ORPHA:397590
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil ...	OMIM:618986
Idiopathic Achalasia	Recurrent aspiration pneumonia, Bronchitis, Weight loss	ORPHA:930
Bone Dysplasia, Lethal Holmgren Type	Recurrent respiratory infections, Patent ductus arteriosus, Weight loss, Atrial septal defect, Hy...	ORPHA:1842
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neutropenia, Bronchiectasis, ...	OMIM:150550
Lymphangiectasia, Intestinal	Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Perianal absces...	OMIM:612541
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
1Q21.1 Microdeletion Syndrome	Failure to thrive, Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aort...	ORPHA:250989
Immunodeficiency 46	Recurrent sinopulmonary infections, Intermittent thrombocytopenia, Neutropenia, Failure to thrive...	OMIM:616740
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Branchial cyst, Finger syndactyly, Ankle flexion contracture, Tapered finger, Knee flexion contra...	ORPHA:435938
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Short stature, Limited wrist extension, Kyphosis, Distal arthrogryposis, F...	OMIM:108145
Cockayne Syndrome Type 2	Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism, Flexion contr...	ORPHA:90322
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Micrognathia, Delayed epiphyseal ossi...	OMIM:114290
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Bleeding Disorder, Platelet-Type, 11	Impaired collagen-induced platelet aggregation, Abnormal platelet count, Impaired ristocetin-indu...	OMIM:614201
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l...	ORPHA:171881
Tularemia	Brain abscess, Tachycardia, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervical lympha...	ORPHA:3392
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Anisospondyly, Micrognathia,...	ORPHA:2484
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Abnormal pulmonary interstitial morphology,...	OMIM:230800
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Primary Intestinal Lymphangiectasia	Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Weight loss, Ascites, Pleural ...	ORPHA:90362
Megabladder, Congenital	Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ...	OMIM:618719
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Diffuse alveolar hemorrhage, Splenomegaly, Anemia, Reduced natur...	OMIM:616050
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Small hand, Short foot, Clinodactyly of the 5th finge...	ORPHA:444002
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Short stature, Short neck, Postnatal growth retardation, Delayed epiph...	OMIM:613320
Cornelia De Lange Syndrome 2	Proximal placement of thumb, Limited elbow movement, Small hand, Short foot, Hypertrophic cardiom...	OMIM:300590
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Micrognathia, Postnatal growth ret...	ORPHA:300570
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Short stature, Facial palsy, Short neck, Kyphosis, Achilles t...	OMIM:301041
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Failure to thrive, Abnormal pulmonary valve morphology, Portal hyper...	ORPHA:974
Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement	Sensorineural hearing impairment, Vestibular areflexia	OMIM:609006
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortenin...	ORPHA:2839
Autosomal Recessive Spastic Paraplegia Type 77	Kyphoscoliosis, Bilateral cryptorchidism, Macrodontia of permanent maxillary central incisor, Ret...	ORPHA:466722
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Natal tooth, Short stature, Dental crowding, Microdontia, Cari...	OMIM:269300
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Hypoplasia of deltoi...	OMIM:173800
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Interphalangeal joint contractu...	OMIM:151200
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Erythrodontia, Short stature, Splenomegaly, Osteolysis, Pathologic ...	OMIM:263700
Mucopolysaccharidosis Type 6	Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Thick low...	ORPHA:583
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Limited elbow movement, Spinal rigidit...	ORPHA:268
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Leukocytosis, Vasculitis, Cong...	ORPHA:2331
Pontocerebellar Hypoplasia, Type 10	Thin upper lip vermilion, Kyphoscoliosis, Short neck, Cryptorchidism, Growth delay, High palate, ...	OMIM:615803
Pure Mitochondrial Myopathy	Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyo...	ORPHA:254854
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Patent ductus arteriosus, Coarctation of aorta, Interrupted aor...	ORPHA:17
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Short stature, Absent pubertal growth spurt, K...	ORPHA:464282
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Abnormal intervertebral disk morphology, Osteoarthritis, Limitation of joint m...	ORPHA:1416
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Short stature, Dental crowding, Micrognathia, Hy...	OMIM:257850
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Dental crowding, Protrus...	OMIM:225400
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Roifman Syndrome	Hip contracture, Short metacarpal, Single transverse palmar crease, Eczema, Eosinophilia, Splenom...	OMIM:616651
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Babesiosis	Hemolytic anemia, Myocardial infarction, Splenomegaly, Congestive heart failure, Recurrent pharyn...	ORPHA:108
Spinocerebellar Ataxia, Autosomal Recessive 31	Gingival overgrowth, Growth delay, High palate, Lumbar kyphoscoliosis, Retrognathia, Smooth philtrum	OMIM:619422
Subaortic Stenosis-Short Stature Syndrome	Short stature, Short neck, Micrognathia, Kyphosis, Obesity, Scoliosis, Microdontia, Synostosis of...	ORPHA:3191
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Camptodactyly of finger, Joint hypermobility, Micrognathia, Kyphosis...	OMIM:619951
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Hepatosplenome...	ORPHA:169160
Mesoaxial Hexadactyly And Cardiac Malformation	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:249670
Holoprosencephaly	Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphra...	ORPHA:2162
Spinocerebellar Ataxia 21	Postural tremor, Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Dysto...	OMIM:607454
Ciliary Dyskinesia, Primary, 40	Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca...	OMIM:618300
Meckel Syndrome, Type 11	Polydactyly	OMIM:615397
Yuan-Harel-Lupski Syndrome	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventr...	OMIM:616652
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Downturned corners of mouth, High palate, Widely spaced t...	OMIM:618371
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Craniosynostosis, Abnormal dental enamel morphology, Obesity, Increased blood urea...	ORPHA:251004
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Recurrent aspiration pneumonia	OMIM:300484
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Rhizomelia, Short neck	ORPHA:171866
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Kyphosis, Osteoporosis, Obesity, Abdominal obesity, Oligomenorrhea, Bico...	OMIM:219090
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Single transverse palmar crease, 2-3 toe syndactyly, Cutaneous syndactyly, Stillbirth, Talipes eq...	OMIM:236500
Preeclampsia	Increased body mass index, Small for gestational age, Elevated diastolic blood pressure, Hyperten...	ORPHA:275555
Immunodeficiency 22	Pericarditis, Abscess, Recurrent upper respiratory tract infections, Capillary leak, Anemia, Asci...	OMIM:615758
Acrodysplasia Scoliosis	Brachydactyly	ORPHA:2956
Immunodeficiency 102	Autoimmune thrombocytopenia, Recurrent upper respiratory tract infections, Neutropenia in presenc...	OMIM:301082
Hurler Syndrome	Short stature, Short neck, Joint stiffness, Hypoplasia of the odontoid process, Kyphosis, Flexion...	OMIM:607014
Nemaline Myopathy 9	Ventricular septal defect, Polyhydramnios	OMIM:615731
Isolated Cleft Lip	Small for gestational age, Abnormal Eustachian tube morphology, Talipes equinovarus, Conductive h...	ORPHA:199302
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch...	ORPHA:71493
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short thumb, Clinodactyly...	OMIM:600325
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Short stature, Recurrent fractures, Kyphosis, Ankylos...	OMIM:239000
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy	ORPHA:369840
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Elbow ankylosis, Bifid uvula, Increased bone mineral ...	ORPHA:2658
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Corticobasal Syndrome	Limb dystonia, Akinesia, Tremor, Gait disturbance, Dystonia	ORPHA:454887
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Lymp...	ORPHA:507
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna...	OMIM:142900
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Arachnodactyly, Eczema, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5...	OMIM:619721
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Elbow disloca...	ORPHA:2769
Trisomy 20P	Camptodactyly of finger, Short neck, Micrognathia, Kyphosis, Cryptorchidism, Abnormality of the d...	ORPHA:261318
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Short stature, Micrognathia, Kyphosis, Joint hyperflexibility, High palate, Short phi...	ORPHA:2479
Propionic Acidemia	Pancytopenia, Cerebellar hemorrhage, Dehydration, Anemia, Cardiomyopathy, Neutropenia, Failure to...	OMIM:606054
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Bardet-Biedl Syndrome 8	Situs inversus totalis, Postaxial polydactyly	OMIM:615985
Ruvalcaba Syndrome	Dental crowding, Kyphosis, Cryptorchidism, Abnormality of the elbow, Narrow mouth, Thin vermilion...	ORPHA:3121
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Brachydactyly, Single transverse palmar crease, Muscular ventricular septal defect, Adducted thumb	OMIM:620062
Marden-Walker Syndrome	Decreased muscle mass, Short neck, Postnatal growth retardation, Kyphosis, Cryptorchidism, Microg...	OMIM:248700
Sonoda Syndrome	Ventricular septal defect	OMIM:270460
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Short stature, Abnormality o...	ORPHA:229717
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Mandibular prognathia, Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased circulatin...	OMIM:300861
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Mesomelia-Synostoses Syndrome	Brachydactyly, Micromelia, Abnormality of the hand, Abnormality of the humerus, Abnormal metacarp...	ORPHA:2496
Coffin-Lowry Syndrome	Delayed eruption of teeth, Skeletal muscle atrophy, Craniofacial hyperostosis, Short stature, Abn...	ORPHA:192
Immunodeficiency 88	Asthma, Eosinophilia	OMIM:619630
Kabuki Syndrome 2	Joint laxity, Natal tooth, Short stature, Micrognathia, Postnatal growth retardation, Lower lip p...	OMIM:300867
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Fanconi Anemia, Complementation Group C	Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Thrombocy...	OMIM:227645
Intellectual Developmental Disorder, Autosomal Recessive 74	Brachydactyly	OMIM:617169
Pseudo-Torch Syndrome 3	Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Hypertension, Congenital thromboc...	OMIM:618886
Nephronophthisis 15	Polydactyly	OMIM:614845
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia...	ORPHA:2756
Cardioacrofacial Dysplasia 2	Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydactyly, Lim...	OMIM:619143
Feingold Syndrome Type 1	Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor...	ORPHA:391641
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Howell-Jolly bodies, Abnormal cardiac ventricle morpho...	ORPHA:85443
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Cole-Carpenter Syndrome	Delayed eruption of teeth, Short stature, Recurrent fractures, Abnormal dental enamel morphology,...	ORPHA:2050
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Cole-Carpenter Syndrome 1	Osteopenia, Short stature, Recurrent fractures, Micrognathia, Coronal craniosynostosis, Reduced b...	OMIM:112240
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Renal Tubular Dysgenesis	Tetralogy of Fallot, Pulmonary hypoplasia, Polyhydramnios, Oligohydramnios	ORPHA:3033
Rubinstein-Taybi Syndrome 1	Dental crowding, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Hypoplasia of the m...	OMIM:180849
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Multiple joint contractures, ...	OMIM:618291
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Short stature, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fin...	ORPHA:1883
Hadziselimovic Syndrome	Ventricular hypertrophy, Failure to thrive, Ventricular septal defect, Atrial septal defect, Tetr...	OMIM:612946
Dengue Fever	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Ascites, Th...	ORPHA:99828
X-Linked Intellectual Disability, Nascimento Type	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Ventricular septal defec...	ORPHA:163956
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo...	ORPHA:330001
Baralle-Macken Syndrome	Kyphosis, Obesity, High, narrow palate	OMIM:619255
Thymic Carcinoma	Palpebral edema, Edema, Mediastinal lymphadenopathy, Weight loss, Abnormal vena cava morphology	ORPHA:99868
Weill-Marchesani Syndrome 3	Aortic valve stenosis, Pulmonic stenosis, Brachydactyly	OMIM:614819
Sifrim-Hitz-Weiss Syndrome	Hypogonadotropic hypogonadism, Short stature, Cryptorchidism, Flat acetabular roof, Fused cervica...	OMIM:617159
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Abnormality o...	ORPHA:1005
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad...	ORPHA:2378
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Carious teeth, Enlarge...	OMIM:277440
Kagami-Ogata Syndrome	Pursed lips, Diastasis recti, Kyphoscoliosis, Large for gestational age, Short neck, Postnatal gr...	ORPHA:254519
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr...	OMIM:616276
Charcot-Marie-Tooth Disease Type 4B2	Proximal muscle weakness in upper limbs, Tongue atrophy, Kyphoscoliosis, Hand muscle weakness, Pr...	ORPHA:99956
19P13.12 Microdeletion Syndrome	Craniosynostosis, Short neck, Kyphosis, Cryptorchidism, Obesity, Cleft palate, Thin vermilion bor...	ORPHA:254346
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Failure to thrive, Kyphoscoliosis, Acanthocytosis, Myopathy, Distal ...	ORPHA:14
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Open mouth	OMIM:619149
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss...	OMIM:600081
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura...	OMIM:617397
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti...	OMIM:258860
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel...	OMIM:620282
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto...	ORPHA:67
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ...	ORPHA:2062
Microphthalmia, Syndromic 3	Vertebral fusion, Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation, Cry...	OMIM:206900
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi...	ORPHA:79345
Myopathy, Centronuclear, X-Linked	Facial palsy, Cryptorchidism, Flexion contracture, Dental malocclusion, High palate, Diaphragmati...	OMIM:310400
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
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Periorbital edema, Lymphadenopathy, B lymphocytopenia, Failure to thrive...	OMIM:618048
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ...	ORPHA:371428
Hypomelanosis Of Ito	Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Scoliosis	OMIM:300337
Perlman Syndrome	Edema, Polyhydramnios, Large for gestational age, Interrupted aortic arch, Ascites	OMIM:267000
Biemond Syndrome Type 2	Hypogonadism, Preaxial polydactyly, Obesity, Hypogonadotropic hypogonadism	ORPHA:141333
Bone Marrow Failure Syndrome 4	Recurrent respiratory infections, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:618116
Hajdu-Cheney Syndrome	Osteopenia, Short neck, Absent frontal sinuses, Micrognathia, Bone pain, Downturned corners of mo...	ORPHA:955
Frontonasal Dysplasia 1	Postaxial hand polydactyly, Tetralogy of Fallot, Pectoral muscle hypoplasia/aplasia, Radial devia...	OMIM:136760
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect...	OMIM:309801
Acro-Renal-Ocular Syndrome	Postnatal growth retardation, Vertebral fusion, Vertebral segmentation defect, Radial club hand	ORPHA:959
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Adams-Oliver Syndrome 4	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:615297
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Dental crowding, Kyphoscoliosis, Submucous cleft soft palate, Kyphosis, Cryptorchid...	OMIM:300967
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Postaxial polydactyly, Cryptorchidism, Obesity, Respiratory insufficiency, Short long bone, Brach...	OMIM:615633
3Mc Syndrome 2	Torticollis, Prominence of the premaxilla, Diastasis recti, Limited elbow movement, Craniosynosto...	OMIM:265050
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Conductive hearing impairment...	ORPHA:443811
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Facial palsy, Spinal rigidity, Ky...	OMIM:615084
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s...	OMIM:605282
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Short stature, Proportionate short stature, Joint stiffness, Hypoplasia of ...	OMIM:608328
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Skeletal muscle atrophy, Kyphosis, Osteoporosis, Truncal obesity	OMIM:219080
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia	ORPHA:85447
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Thrombocytopenia	ORPHA:3002
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Neutropenia, Short ...	ORPHA:193
Oligomeganephronia	Branchial cyst, Congenital diaphragmatic hernia, Secundum atrial septal defect, Optic disc colobo...	ORPHA:2260
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Short neck, Large for gestational age, Microgn...	ORPHA:96334
Alg12-Cdg	Thin upper lip vermilion, Ulnar deviation of the wrist, Partial absence of specific antibody resp...	ORPHA:79324
Bardet-Biedl Syndrome 3	Postaxial polydactyly, Brachydactyly	OMIM:600151
Isolated Congenital Hypoglossia/Aglossia	Aspiration pneumonia, Weight loss	ORPHA:141152
Langer Mesomelic Dysplasia	Mesomelic short stature, Lumbar hyperlordosis, Madelung deformity, Micrognathia	OMIM:249700
Ivic Syndrome	Severe short stature, Joint stiffness, Leukocytosis, Radioulnar synostosis, Scoliosis, Thrombocyt...	ORPHA:2307
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Joubert Syndrome 10	Low-set ears, Postaxial polydactyly	OMIM:300804
Incontinentia Pigmenti	Delayed eruption of teeth, Short stature, Eosinophilia, Kyphoscoliosis, Conical tooth, Leukocytos...	OMIM:308300
Catel-Manzke Syndrome	Atrial septal defect, Failure to thrive, Ventricular septal defect	ORPHA:1388
Dubowitz Syndrome	Abnormality of neutrophils, Micrognathia, High palate, Spina bifida occulta, Short stature, Crypt...	ORPHA:235
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Short stature, Osteom...	ORPHA:289157
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Cerebral edema, Stroke, Hypertrophic cardiomyop...	OMIM:611126
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Severe B lymphocytopenia, Micrognathia, Postnatal growth retardation, Contracture of the distal i...	ORPHA:83617
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Abnormal vascular ...	ORPHA:464321
Perry Syndrome	Akinesia, Tremor, Weight loss, Dystonia, Short stepped shuffling gait	OMIM:168605
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte...	ORPHA:79124
Achondroplasia	Lumbar hyperlordosis, Limited hip extension, Rhizomelia, Generalized joint laxity, Lumbar kyphosi...	OMIM:100800
Schinzel-Giedion Syndrome	Short neck, Micrognathia, Abnormality of the gingiva, Short philtrum, High palate, Myeloid leukem...	ORPHA:798
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Abnormality of the temporomandibular joint, Facial palsy, ...	ORPHA:258
Cinca Syndrome	Skin rash, Eosinophilia, Leukocytosis, Uveitis, Hepatosplenomegaly, Arthritis, Progressive sensor...	OMIM:607115
X-Linked Intellectual Disability, Cabezas Type	Short stature, Camptodactyly of finger, Cachexia, Short neck, Open bite, Kyphosis, Thick lower li...	ORPHA:85293
Grange Syndrome	Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp...	ORPHA:79094
Mucopolysaccharidosis, Type Vii	Short neck, Accelerated skeletal maturation, Flexion contracture, Widely spaced teeth, Anterior b...	OMIM:253220
Cranioacrofacial Syndrome	Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thrombocytopenia, Leuk...	ORPHA:824
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Facial palsy, Short s...	OMIM:259720
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Lymphadenopath...	OMIM:603554
Gm1-Gangliosidosis, Type I	Severe short stature, Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes...	OMIM:230500
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia, Recurrent respiratory infections	OMIM:233650
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Submucous cleft hard palate, Retrognathia, Fused cervical vertebrae, Spina bifida ...	OMIM:619227
Encephalocraniocutaneous Lipomatosis	Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap...	ORPHA:2396
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Bone marrow hypocellularity, P...	OMIM:613989
Congenital Disorder Of Glycosylation, Type Iil	Pancytopenia, Peau d'orange, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, A...	OMIM:614576
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, High, narrow palate, Thick l...	OMIM:162300
Q Fever	Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effusion, Myocarditis, Thro...	ORPHA:781
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	ORPHA:251076
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Hereditary Methemoglobinemia	Small for gestational age, Athetosis, Methemoglobinemia, Limb dystonia	ORPHA:621
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter...	OMIM:108900
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Dental crowding, Kyphoscoliosis, Short philtrum,...	ORPHA:397695
Laurence-Moon Syndrome	Finger syndactyly, Brachydactyly, Hand polydactyly, Bilateral single transverse palmar creases	ORPHA:2377
Fanconi Anemia, Complementation Group S	Short stature, Macrodontia, Dental malocclusion, Narrow palate, Failure to thrive, Thick upper li...	OMIM:617883
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Joint laxity, Hip contracture, Microretrognathia, Short stature, Kyphoscoliosis, Cleft palate, Kn...	ORPHA:488642
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Kyphosis, Disproportionate...	OMIM:616482
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Kyphosis, High, narrow palate, Joint hyperflexibility, Shoulder dislocation, Scoliosis	ORPHA:2181
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia, Short stature, Micrognathia, Abnormality of the dentition, Cryptorchidism, Thick lo...	ORPHA:85321
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o...	ORPHA:93322
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, Sterile absc...	OMIM:618282
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum	OMIM:300210
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Hurler-Scheie Syndrome	Short stature, Camptodactyly of finger, Thenar muscle atrophy, Joint stiffness, Kyphosis, Contrac...	OMIM:607015
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enlargement of the ankles, Recurrent fractures, Enlargement of the wri...	OMIM:264700
Suleiman-El-Hattab Syndrome	Single transverse palmar crease, Hearing impairment, Cryptorchidism, Overfolded helix, Protruding...	OMIM:618950
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Increased skull ossification, Cra...	OMIM:618476
Stiff-Person Syndrome	Lumbar hyperlordosis, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Anemia, A...	OMIM:184850
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachydactyly	OMIM:601224
Glycogen Storage Disease Due To Acid Maltase Deficiency	Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Flexion contrac...	ORPHA:365
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Polyhydramnios	OMIM:616873
Schneckenbecken Dysplasia	Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Flat acetabular roof, Advanced ...	OMIM:269250
Congenital Disorder Of Glycosylation, Type Il	Short neck, Kyphosis, Delayed skeletal maturation, Hip dislocation, Hepatosplenomegaly, Wide mout...	OMIM:608776
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Short Syndrome	Joint laxity, Delayed eruption of teeth, Small for gestational age, Micrognathia, Delayed skeleta...	OMIM:269880
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal diaphysis morphology, Clinodactyly of the ...	ORPHA:1515
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Lumbar hyperlordosis, Dental crowding, Hyperlordosis, Cryptorchidism, O...	OMIM:616078
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Ventricular septal defect, Atrial septal ...	ORPHA:261330
Stickler Syndrome, Type I	Arthropathy, Joint stiffness, Micrognathia, Kyphosis, Osteoarthritis, Submucous cleft hard palate...	OMIM:108300
Sialidosis Type 1	Skeletal muscle atrophy, Short stature, Splenomegaly, Kyphosis, Delayed skeletal maturation, Thic...	ORPHA:812
Acromesomelic Dysplasia 1	Joint laxity, Lumbar hyperlordosis, Ovoid vertebral bodies, Disproportionate short stature, Thora...	OMIM:602875
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Skeletal muscle atrophy, Cleft soft palate, Kyphoscoliosis, Atlantoaxial instability,...	OMIM:614557
Craniofacioskeletal Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch	OMIM:300712
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious teeth, Thin...	ORPHA:363444
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Short stature, Kyphoscoliosis, Hyperlordosis, Micrognathia, Bone cyst, Genu valgum, Ab...	ORPHA:363700
Cardiospondylocarpofacial Syndrome	Brachydactyly, Mitral valve prolapse, Synostosis of carpal bones, Short palm	ORPHA:3238
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Reduced bone mineral dens...	ORPHA:848
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis	OMIM:601152
Multiple Synostoses Syndrome 4	Overlapping toe, Tarsal synostosis, Brachydactyly	OMIM:617898
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, T lymphocytopenia, B lymphocytopenia, Failure to thrive secondary to recurrent infecti...	OMIM:601457
Prader-Willi Syndrome	Osteopenia, Thin upper lip vermilion, Decreased muscle mass, Failure to thrive in infancy, Hypogo...	OMIM:176270
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Congenital hip dislocation, Short stature, Hypoplastic acetabula...	OMIM:169550
Meacham Syndrome	Ventricular septal defect, Situs inversus totalis, Abnormality of the spleen, Patent ductus arter...	ORPHA:3097
Intellectual Developmental Disorder, Autosomal Recessive 73	Patent ductus arteriosus, Ventricular septal defect	OMIM:619717
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Malar flattening, Short neck, Postnatal growth retardation, Anterior scalloping of vertebral bodi...	OMIM:611717
Immunodeficiency, Common Variable, 1	Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutropil antibodie...	OMIM:607594
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Vertebral fusion, Congenital hip dislocation, Camptodactyly of finger, Con...	ORPHA:373
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc...	OMIM:601005
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Peroxisome Biogenesis Disorder 12A (Zellweger)	Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Decreased body weight	OMIM:614886
Atelosteogenesis, Type I	Rhizomelia, Short neck, Thoracic platyspondyly, Elbow dislocation, Cryptorchidism, Micrognathia, ...	OMIM:108720
Boutonneuse Fever	Cervical lymphadenopathy, Vasculitis, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, S...	ORPHA:534
Spondylometaphyseal Dysplasia, Algerian Type	Lumbar hyperlordosis, Severe short stature, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bo...	OMIM:184253
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis, Secondary amenorrhea, Truncal obesity	OMIM:610489
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, High, narrow palate, Growth dela...	ORPHA:1439
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Interstitial Nephritis, Karyomegalic	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:614817
Hypoplastic Left Heart Syndrome	Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial...	ORPHA:2248
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Atrial septal defect, Clinodactyly of the 5th ...	OMIM:201000
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Hypoplastic ilia, Hypoplastic i...	OMIM:151210
4Q21 Microdeletion Syndrome	Short neck, Abnormality of the dentition, Kyphosis, Growth delay, Downturned corners of mouth, Th...	ORPHA:238750
Distal Triplication 15Q	Craniosynostosis, Large for gestational age, Micrognathia, Kyphosis, Flexion contracture, Hydroce...	ORPHA:314588
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, Flat glenoid f...	OMIM:250420
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Small for gestational age, Akinesia, Hypochromic microcytic anemia, Hyp...	OMIM:619147
Fanconi Anemia, Complementation Group B	Aplastic anemia, Hypergonadotropic hypogonadism, Short neck, Growth delay, Hypogonadism, Intraute...	OMIM:300514
Noonan Syndrome 8	Failure to thrive, Ventricular septal defect, Polyhydramnios, Large for gestational age, Patent d...	OMIM:615355
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Ventricular septal defect, Abnormality of the pulmonary artery, Abnormal aor...	ORPHA:1166
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Syndactyly, Leukemia, Polydactyly, Large earlobe	OMIM:602501
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, M...	ORPHA:904
Moebius Syndrome	Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morphology, Talipes equinovaru...	OMIM:157900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Lympha...	OMIM:617718
Diamond-Blackfan Anemia 5	Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Nicolaides-Baraitser Syndrome	Short palm, Sandal gap, Abnormal finger morphology, Clubbing of toes, Abnormal epiphysis morpholo...	ORPHA:3051
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S...	OMIM:126320
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Chronic oral candidias...	OMIM:615387
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Tapered finger, Flattened epiphysis, Genu valgum, Polydactyly, Low-set ears...	OMIM:607131
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Diffuse alveolar hemorrhage, Leukocytosis, Weight loss, Anemia, Leukopen...	ORPHA:520
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis...	OMIM:240300
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ventricular septal defect, Preax...	OMIM:618142
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Short stature, Dental crowding, Congenital diaphragmatic hernia, Carious teeth, ...	OMIM:617602
Cockayne Syndrome	Skeletal muscle atrophy, Severe short stature, Abnormal dental morphology, Cachexia, Delayed erup...	ORPHA:191
Microcephaly, Short Stature, And Limb Abnormalities	Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Patellar hypoplasia,...	OMIM:617604
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Short stature, Thoracolumbar kyphoscoliosis, Macrodontia, Shor...	OMIM:212066
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Small for gestational age, Oligohydramnios, Dehydration, Atrial septal...	OMIM:208085
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Patent ductus arteriosus, T lymphocytopenia, Abnormal B cell morphology, P...	OMIM:618223
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Peritonitis, Enteroco...	ORPHA:2686
Alstrom Syndrome	Hypergonadotropic hypogonadism, Short stature, Accelerated skeletal maturation, Abnormality of th...	OMIM:203800
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis, Truncal obesity	OMIM:610475
Nail-Patella Syndrome	Back pain, Biceps aplasia, Lumbar hyperlordosis, Short stature, Absence of pectoralis minor muscl...	OMIM:161200
Temtamy Syndrome	Clinodactyly of the 5th finger, Short toe, Brachydactyly, Genu varum	ORPHA:1777
Schnitzler Syndrome	Increased bone mineral density, Splenomegaly, Leukocytosis, Bone pain, Arthritis, Increased circu...	ORPHA:37748
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Hemivertebrae, Scoliosis, Supernumerary vertebrae	OMIM:271520
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Enamel hypoplasia, Hip dislocation, Cle...	OMIM:164200
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, H...	OMIM:119600
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short stature, Delayed closure of...	OMIM:303600
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:86893
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Short stature, Kyphosis, Cryptorchidism, Flexion contractur...	ORPHA:398069
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, We...	ORPHA:133
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss...	OMIM:241530
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Fanconi Anemia, Complementation Group F	Pneumonia, Polyhydramnios, Patent ductus arteriosus, Anemia, Leukopenia, Bone marrow hypocellular...	OMIM:603467
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Red...	ORPHA:370959
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Larg...	ORPHA:457359
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Joint hypermobility, Joint stiffness, Postnatal growth retardation, Pierre-Robin...	OMIM:619184
16Q24.3 Microdeletion Syndrome	Smooth philtrum, Micrognathia, Kyphosis, Cryptorchidism, Wide mouth, Increased mean corpuscular v...	ORPHA:261250
Thanatophoric Dysplasia	Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Platyspo...	ORPHA:2655
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Mast Cell Sarcoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis	ORPHA:66661
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Cryptorchidism, High palate, Short philtrum, Decreased testicular size	OMIM:615433
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Skeletal muscle atrophy, Limb joint contracture, Short stature, Spleno...	OMIM:301072
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Kyphoscoliosis, Delayed skeletal maturation, High palate, Cubitus valgus, Retr...	OMIM:620237
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Facial palsy	OMIM:113650
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Oste...	ORPHA:79329
Cardiac Valvular Dysplasia 1	Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f...	OMIM:212093
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Autosomal Recessive Spastic Paraplegia Type 9B	Growth delay, Skeletal muscle atrophy, Short stature, Kyphoscoliosis	ORPHA:447760
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Dental crowding, Micrognathia, Kyphosis, Cryptorchidism, High...	OMIM:619005
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis	ORPHA:26137
Intellectual Developmental Disorder, Autosomal Dominant 59	Short foot, Brachydactyly, Short palm	OMIM:618522
Galactose Epimerase Deficiency	Splenomegaly, Weight loss	ORPHA:79238
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Eisenmenger Syndrome	Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Bacterial en...	ORPHA:97214
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Accel...	OMIM:619636
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Asthma, Recurrent pneumonia, De...	OMIM:243700
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Short stature, Limited elbow movement, Kyphoscoliosis, S...	OMIM:151100
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Spinal rigidity, Kyphosis, Ragged...	ORPHA:352447
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Multiple joint contractures, Short stature, Delayed closure ...	OMIM:305450
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure...	ORPHA:508542
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Bilateral cryptorchid...	OMIM:211380
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Joint stiffness, Thrombocytopenia, Flexion contracture, Lumbar ...	ORPHA:505248
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Short stature, Persistence of primary teeth, Cryptorchidism, Supernume...	OMIM:300166
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Dyskeratosis Congenita, Autosomal Dominant 3	Pancytopenia, Aplastic anemia, Short stature, Avascular necrosis of the capital femoral epiphysis...	OMIM:613990
Chondrodysplasia, Blomstrand Type	Fetal ascites, Polyhydramnios, Hydrops fetalis, Stillbirth, Preductal coarctation of the aorta	OMIM:215045
Juvenile Paget Disease	Short stature, Recurrent fractures, Abnormality of the dentition, Cranial hyperostosis, Osteoporo...	ORPHA:2801
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Abnormal lung lobation, Atrial septal defect, Truncus arteriosus, Fail...	ORPHA:2538
Acrorenal-Mandibular Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Hip dislocation, El...	OMIM:200980
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Aicardi-Goutieres Syndrome 5	Arthropathy, Flexion contracture, Thrombocytopenia	OMIM:612952
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Atrial septal defect, Tapered finger, 2-3 toe syndactyly, Abnormal heart morpholog...	ORPHA:485405
Pediatric Systemic Lupus Erythematosus	Edema, Pericardial effusion, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Ascites, Microangio...	ORPHA:93552
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Thin upper lip vermilion, Failure to thrive, Premature ovarian insufficiency, Hypergo...	OMIM:212065
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Large for gestational...	ORPHA:363705
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Ce...	ORPHA:99901
Sea-Blue Histiocytosis	Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Kyphosis, Sacral dimple, Micrognathia, Large for gestational age	OMIM:618272
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Phelan-Mcdermid Syndrome	Sacral dimple, Micrognathia, Dental malocclusion, High palate, Widely spaced teeth, Long philtrum...	OMIM:606232
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Short stature, Short neck, Micrognathia, Cryptorchidism, Kyphosis, Abnorma...	ORPHA:3082
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Tricuspid ...	ORPHA:261337
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Broad hallux, Ventricular septal defect, Clinodactyly of the 2nd toe, Coxa valga, Short distal ph...	OMIM:620073
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thr...	OMIM:603585
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Weight loss, Cardiomyopathy, Hyperten...	ORPHA:767
Al-Raqad Syndrome	Atrial septal defect, Sandal gap, Brachydactyly	OMIM:616459
Tricho-Retino-Dento-Digital Syndrome	Short 5th metacarpal, Abnormality of the hand, Brachydactyly	ORPHA:1264
8P23.1 Microdeletion Syndrome	Patent ductus arteriosus, Pulmonary artery stenosis, Obesity, Weight loss, Hypertrophic cardiomyo...	ORPHA:251071
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Congenital Myopathy 12	Small for gestational age, Akinesia, Jaw contracture, Abnormal circulating creatine kinase concen...	OMIM:612540
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pneumothorax, Bronchiectasis, Lymphadenopathy, Weight loss, Pleural effusion	ORPHA:411703
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus arteriosus, Part...	OMIM:190685
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Metaphyseal...	ORPHA:440354
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Weight loss, An...	ORPHA:160
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Coarc...	ORPHA:508498
Mitochondrial Complex I Deficiency, Nuclear Type 28	Akinesia, Choreoathetosis, Truncal ataxia, Hyperalaninemia, Failure to thrive	OMIM:618249
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Pulmonary edema, Cerebral ...	ORPHA:244242
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Leukocytosis, Weight loss, Hematochezia, Ascites, Anemia	ORPHA:2070
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Duane Retraction Syndrome	Skeletal muscle atrophy, Short neck, Micrognathia, Spina bifida occulta, Abnormal form of the ver...	ORPHA:233
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Recurrent pneumonia, Monocytosis, B lymphocytopenia, Recurrent sinusi...	OMIM:619281
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response, Failure to thrive, Flexion contracture	OMIM:618201
Lopes-Maciel-Rodan Syndrome	Ankle clonus, Kyphosis, Scoliosis	OMIM:617435
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Resting tremor, Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Shuffling gait, Abnormal vesti...	ORPHA:247234
Frontometaphyseal Dysplasia 2	Hip contracture, Decreased muscle mass, Congenital hip dislocation, Elbow contracture, Cryptorchi...	OMIM:617137
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Genu varum, Genu valgum, Sparse bone trabeculae, Genera...	OMIM:600785
Stickler Syndrome	Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit...	ORPHA:828
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Pelizaeus-Merzbacher Disease	Failure to thrive in infancy, Short stature, Cachexia, Joint stiffness, Kyphosis, Scoliosis	ORPHA:702
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Micrognathia, Cryptorchidism, Deep philtrum, Thrombocytopenia	ORPHA:1237
Joubert Syndrome 20	4-5 toe syndactyly, Postaxial polydactyly	OMIM:614970
Distal Deletion 12Q	Median cleft lip, Failure to thrive in infancy, Unilateral cryptorchidism, Kyphoscoliosis, Short ...	ORPHA:96149
Lead Poisoning	Delayed eruption of teeth, Decreased female libido, Small for gestational age, Abnormality of the...	ORPHA:330015
Activated Pi3K-Delta Syndrome	Pneumonia, Splenomegaly, Bronchiectasis, Lymphadenopathy, B lymphocytopenia, Recurrent upper and ...	ORPHA:397596
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Majeed Syndrome	Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic anemia, Splenomeg...	ORPHA:77297
Glanzmann Thrombasthenia 1	Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet aggregation, Abnormal pla...	OMIM:273800
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Postaxial polydactyly, Preaxial polydactyly, Femoral bowin...	OMIM:615503
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Complete atrioventricular canal defect, Genu valgum, Limb undergrowth, Atr...	OMIM:619142
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Weight loss,...	ORPHA:514
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, A...	OMIM:135750
Roberts Syndrome	Progressive flexion contractures, Craniosynostosis, Short neck, Postnatal growth retardation, Cry...	ORPHA:3103
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Clinodactyly of the 5th finger, Down-sloping shoulders, Brachydactyly	ORPHA:1390
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Anemia of inadequate production, Carious teeth, Splenomegaly, Delayed skeletal matura...	OMIM:612714
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Mandibular prognathia, Large for gestational age, Hyperlordosis, Kyphosis, High pal...	OMIM:617011
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout...	OMIM:619950
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Short Stature-Wormian Bones-Dextrocardia Syndrome	Dextrocardia, Camptodactyly of finger, Brachydactyly	ORPHA:2863
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Failure ...	ORPHA:331206
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hyperlordosis, Cleft lip, Hip dislocation, Obesity, Cleft palate, Hepatosplenomegaly, Genu valgum...	OMIM:301066
Thanatophoric Dysplasia Type 2	Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly	ORPHA:93274
Calcification Of Joints And Arteries	Intervertebral disk calcification, Ectopic ossification	OMIM:211800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,...	ORPHA:391487
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Micrognathia, Postnatal growth retardation, Cryptorchidism, Poorly ossi...	OMIM:619135
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Ankle clonus, Distal amyotrophy, Scoliosis	OMIM:609541
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Akinesia, Tremor, Blepharospasm, Falls, Gait imbalance, Dystonia	ORPHA:240071
Wolman Disease	Cachexia, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypop...	OMIM:617895
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Oligodontia, Widely spaced teeth, Advanced eruption of teeth, Microdontia, J...	OMIM:615873
Distal Duplication 18Q	Abnormal dental morphology, Camptodactyly of finger, Micrognathia, Progressive intervertebral spa...	ORPHA:1716
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching	OMIM:107500
Overlap Myositis	Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Abnormal heart morphology, Leukop...	ORPHA:206572
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Cutaneous finger syndactyly, Carpal synostosis, Clinod...	OMIM:148820
Neurodegeneration With Brain Iron Accumulation 5	Tremor, Akinesia, Dystonia	OMIM:300894
Atelosteogenesis Type Ii	Micromelia, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the hand or of fingers...	ORPHA:56304
Koolen-De Vries Syndrome Due To A Point Mutation	Joint dislocation, Hand muscle atrophy, Sacral dimple, Joint laxity, Small for gestational age, A...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Joint dislocation, Hand muscle atrophy, Sacral dimple, Joint laxity, Small for gestational age, A...	ORPHA:363958
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Chops Syndrome	Short stature, Splenomegaly, Cryptorchidism, High, narrow palate, Obesity, Downturned corners of ...	OMIM:616368
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Prominent metopic ridge, Congenital muscular torticollis, Severe short s...	ORPHA:2215
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Perianal abscess, Bronchiectasis, T lymphocytopenia, B lymphocy...	OMIM:618108
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Ascites, Weight loss	ORPHA:2198
Desmoplastic Small Round Cell Tumor	Cachexia, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Neoplasm of the lung, Ascite...	ORPHA:83469
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Postnatal growth retardation, Hem...	OMIM:304050
Chronic Hiccup	Dehydration, Weight loss	ORPHA:396
Greenberg Dysplasia	Abnormal pelvis bone ossification, Rhizomelia, Micromelia, Brachydactyly	ORPHA:1426
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Stiff neck, Fused cervical vertebrae, Scoliosi...	ORPHA:268882
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Osteomyelitis, Short stature, Sinusitis, Weight loss, Anem...	ORPHA:47
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Small for gestational age, Dextrocardia, Megaloblastic anemia, Thrombocytopenia, Pa...	OMIM:277380
Sanjad-Sakati Syndrome	Short stature, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Postnatal ...	ORPHA:2323
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Mandibular prognathia, Short stature, Dental crowding, Kyphoscoliosis, Bilateral cr...	OMIM:617402
Mucopolysaccharidosis-Plus Syndrome	Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Patent ductus arteriosus, Conge...	OMIM:617303
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Frontorhiny	Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sin...	ORPHA:391474
20Q13.33 Microdeletion Syndrome	Dilation of Virchow-Robin spaces, Small for gestational age, Failure to thrive in infancy, Abnorm...	ORPHA:261311
Sturge-Weber Syndrome	Hyperostosis, Gingival overgrowth	ORPHA:3205
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Joint laxity, Thin upper lip vermilion, Dental crowding, Kyphoscoliosis, Malar flattening, Bilate...	ORPHA:466791
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Ventricular septal defect, Small for gestational age, Complete atrio...	ORPHA:508488
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Progressive alveolar ridge hypertropy, Thoracolumbar kyphoscoliosis, Hy...	OMIM:252500
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Noonan Syndrome 14	Scapular winging, Short stature, Short neck, Kyphosis, Cryptorchidism, High, narrow palate, Wide ...	OMIM:619745
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Oligodontia, Microcytic anemia	ORPHA:324737
Mohr-Tranebjaerg Syndrome	Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures	OMIM:304700
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hepatic foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Portal...	OMIM:278000
Diamond-Blackfan Anemia	Acute myeloid leukemia, Radial artery aplasia, Ventricular septal defect, Small for gestational a...	ORPHA:124
Meckel Syndrome, Type 8	Pericardial effusion, Polydactyly, Talipes equinovarus	OMIM:613885
Microphthalmia, Syndromic 12	Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia	OMIM:615524
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Cleft palate, Short philtrum, Sco...	ORPHA:50
Maternal Phenylketonuria	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear...	ORPHA:2209
Charge Syndrome	Lymphopenia, Overriding aorta, Ventricular septal defect, Polyhydramnios, Secundum atrial septal ...	OMIM:214800
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Bronchiectasis, Right aortic arch, Dextrocardia	OMIM:617577
Mohr Syndrome	Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysis, Postaxial f...	OMIM:252100
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Cardiac arrest, Myocarditis, Angioedema, Weight loss, Lymphadenopathy, Interstitial...	ORPHA:139402
Ichthyosis-Prematurity Syndrome	Neonatal respiratory distress, Eosinophilia	ORPHA:88621
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Pedal edema, Lymphadenopathy, Leukopenia, Bone marrow h...	ORPHA:381
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Abnormal finger morp...	ORPHA:559
Progressive Osseous Heteroplasia	Brachydactyly	ORPHA:2762
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short stature, Recurrent fractures, Short neck, Micrognathia,...	ORPHA:140
Farber Disease	Abnormality of the knee, Skeletal muscle atrophy, Short stature, Thrombocytopenia, Abnormality of...	ORPHA:333
Senior-Loken Syndrome 9	Hypoplasia of the femoral head, Obesity, Tubulointerstitial nephritis, Hypogonadism, Polydactyly	OMIM:616629
15Q14 Microdeletion Syndrome	Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, L...	ORPHA:261190
Diffuse Alveolar Hemorrhage	Leukocytosis, Weight loss, Anemia, Pulmonary venous hypertension, Pulmonary fibrosis, Irregular s...	ORPHA:90060
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Downturned corners of mouth, Narrow m...	ORPHA:1780
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short stature, Elbow contracture, Kyphoscoliosis, Short neck, Delayed...	OMIM:304120
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Short stature, Craniosynostosis, Kyphosis, Contracture of the proximal ...	OMIM:618050
Fetal Minoxidil Syndrome	Ventricular septal defect	ORPHA:1918
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Small for gestational age, Postaxial polydactyly, Tapered finger, Cryptorchidism...	OMIM:613792
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Overweight, Patent ductus arteriosus, Recurrent upper respiratory trac...	OMIM:619769
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Rhabdomyolysis, Increased intramyocellu...	ORPHA:26791
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Global Developmental Delay With Or Without Impaired Intellectual Development	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary sequestration	OMIM:618330
Atypical Progressive Supranuclear Palsy Syndrome	Kyphoscoliosis	ORPHA:99750
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Joint laxity, Natal tooth, Short stature, Dental crowding, Carious teeth, Avascular necrosis of t...	ORPHA:353281
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Akinesia, Tremor, Gait disturbance, Dystonia	OMIM:606693
14Q11.2 Microdeletion Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:261120
Diamond-Blackfan Anemia 1	Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Neutro...	OMIM:105650
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Kyphosis, Growth dela...	ORPHA:261144
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ...	ORPHA:3353
Immunodeficiency, Common Variable, 8, With Autoimmunity	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphade...	OMIM:614700
Mucolipidosis Type Ii	Hip contracture, Prominent metopic ridge, Short stature, Diastasis recti, Craniosynostosis, Limit...	ORPHA:576
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
Laurence-Moon Syndrome	Polydactyly, Abnormality of the hand	OMIM:245800
Basilar Impression, Primary	Limb muscle weakness, Craniofacial asymmetry, Kyphoscoliosis, Short neck	OMIM:109500
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Paraspinal muscle hypertrophy	ORPHA:3198
Anauxetic Dysplasia 3	Short metacarpal, Hip subluxation, Squared iliac bones, Femoral bowing, Genu valgum, Short middle...	OMIM:618853
21Q22.11Q22.12 Microdeletion Syndrome	Smooth philtrum, Thin upper lip vermilion, Sacral dimple, Failure to thrive in infancy, Short sta...	ORPHA:261323
Acquired Purpura Fulminans	Intracranial hemorrhage, Shock, Internal hemorrhage, Thrombocytopenia	ORPHA:49566
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe syndactyly, Cone-sh...	OMIM:618659
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Splenomegaly, Ascites, Thrombocytopenia	OMIM:619463
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P...	ORPHA:392
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Asplenia, Stroke-like episode, Anemia, H...	OMIM:185070
Deeah Syndrome	Decreased hemoglobin concentration, Cervical hemivertebrae, Short stature, Short neck, Cryptorchi...	OMIM:619004
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Hypoplastic vertebral bodies, Downturned corners of mouth, Short philtrum, Premature ...	ORPHA:3455
Gaucher Disease Type 3	Recurrent respiratory infections, Mitral valve calcification, Pancytopenia, Abnormal heart valve ...	ORPHA:77261
Diamond-Blackfan Anemia 12	Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia	OMIM:615550
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Generalized Eruptive Histiocytosis	Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis	ORPHA:157991
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Dental malocclus...	OMIM:618975
Brucellosis	Liver abscess, Bronchitis, Leukopenia, Leukocytosis, Lymphadenopathy, Anemia, Pneumonia, Hyperspl...	ORPHA:1304
Lowry-Wood Syndrome	Squared iliac bones, Limited elbow extension, Hip dislocation, Elbow flexion contracture, Irregul...	OMIM:226960
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Pancytopenia, Mandibular prognathia, Facial hypotonia, Craniosynostosis...	ORPHA:309282
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia	ORPHA:2582
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Palpebral edema, Myocarditis, Thrombocytopenia, Splenomegaly, Vascul...	ORPHA:50918
Esophagitis, Eosinophilic, 2	Failure to thrive, Eosinophilia, Esophagitis	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Eosinophilia, Esophagitis	OMIM:610247
Retinitis Pigmentosa 89	Bicuspid aortic valve, Postaxial polydactyly	OMIM:618955
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Non-Distal Deletion 10Q	Clinodactyly of the 5th finger, Overlapping fingers, Bilateral single transverse palmar creases, ...	ORPHA:1581
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Glycogen Storage Disease Iv	Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cardiomyopathy, ...	OMIM:232500
Congenital Tracheomalacia	Failure to thrive, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:95430
Sitosterolemia 1	Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomat...	OMIM:210250
Satoyoshi Syndrome	Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, Genu valgum,...	OMIM:600705
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia, Opisthotonus	OMIM:250800
Erythrokeratodermia Variabilis	Brachydactyly, Patchy palmoplantar hyperkeratosis, Tapered finger	ORPHA:317
Pfapa Syndrome	Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss	ORPHA:42642
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Severe short stature, Short stature, Short neck, Kyphosis, Splenomegal...	OMIM:309900
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Restrictive Dermopathy 1	Natal tooth, Limb joint contracture, Kyphoscoliosis, Micrognathia, Ankylosis, Flexion contracture...	OMIM:275210
Manganese Poisoning	Akinesia, Postural tremor, Gait disturbance, Dystonia	ORPHA:306682
Feingold Syndrome 2	Ventricular septal defect	OMIM:614326
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect	OMIM:614876
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cervical C5/C6 verte...	ORPHA:87
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Alopecia-Intellectual Disability Syndrome	Split hand, Brachydactyly	ORPHA:2850
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Osteopenia, Joint laxity, Postnatal growth retardation, Hip dislocation, Wormian ...	OMIM:616603
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ...	ORPHA:183
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Ventricular septal defect, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of ...	OMIM:615630
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Osteoarthritis, Reduced bone mineral d...	ORPHA:56
Leukodystrophy, Hypomyelinating, 13	Joint contracture, Exaggerated startle response, Failure to thrive, Ataxia	OMIM:616881
Omenn Syndrome	Pneumonia, Eosinophilia, Splenomegaly, Short toe, Leukocytosis, Thyroiditis, Erythroderma, Abnorm...	ORPHA:39041
Cinca Syndrome	Joint dislocation, Abnormality of thrombocytes, Abnormality of neutrophils, Delayed closure of th...	ORPHA:1451
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finge...	ORPHA:3306
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal cardiac septum morphology, Cachexia	ORPHA:93941
Cardiospondylocarpofacial Syndrome	Joint laxity, Short stature, Tarsal synostosis, Congenital diaphragmatic hernia, Delayed skeletal...	OMIM:157800
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Split hand, Micromelia, Brachydactyly	ORPHA:2145
Septooptic Dysplasia	Polydactyly, Short finger	OMIM:182230
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Orofaciodigital Syndrome Vi	Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Po...	OMIM:277170
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Osteoporosis, Bone marrow hypocellularity, Microdon...	OMIM:224230
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Absent circulating B cells, Abnormal T cel...	OMIM:613500
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Xerostomia, Weight loss, Pleuritis	OMIM:617321
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Pulmonary embolism, Intracranial hemorrhage, Neutrophilia, Raynaud p...	ORPHA:3260
Joubert Syndrome 17	Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly	OMIM:614615
Pseudo-Torch Syndrome 1	Splenomegaly, Patent ductus arteriosus, Failure to thrive, Patent foramen ovale, Thrombocytopenia	OMIM:251290
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, High palate, Microdontia, Microretrognathia, Scapular win...	OMIM:278250
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Obesi...	OMIM:618493
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Hand monodactyly, Patella...	OMIM:609945
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Bilateral cryptorchidism, Hip dislocation, Retrognathia, Camptodactyly, Joint con...	OMIM:617403
Floating-Harbor Syndrome	Joint laxity, Thin upper lip vermilion, Prominent metopic ridge, Ivory epiphyses of the distal ph...	OMIM:136140
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Weight loss, Abnormal lymph...	ORPHA:54251
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta	OMIM:616145
Lowe Oculocerebrorenal Syndrome	Failure to thrive, Short stature, Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis...	OMIM:309000
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,...	OMIM:614613
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormal diaphysis morphology, Abnormality of the wri...	ORPHA:1657
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Preaxial polydactyly	ORPHA:64754
Poems Syndrome	Edema, Pericardial effusion, Weight loss, Lymphadenopathy, Pulmonary arterial hypertension, Throm...	ORPHA:2905
Xk Aprosencephaly Syndrome	Atrial septal defect, Ventricular septal defect, Polyhydramnios	ORPHA:3469
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Atrial septal defect, Ventricular septal defect	OMIM:608227
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Sacral dimple, Thin upper lip vermilion, Short neck, Postnatal gro...	OMIM:300966
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Trisomy 9P	Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down...	ORPHA:236
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,...	OMIM:250220
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
3C Syndrome	Finger syndactyly, Death in infancy, Ventricular septal defect, Abnormal mitral valve morphology,...	ORPHA:7
Alg8-Cdg	Small for gestational age, Edema, Hydrops fetalis, Anemia, Ascites, Failure to thrive, Thrombocyt...	ORPHA:79325
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Tremor, Steppage gait, Increased total iron binding capacity, Unconjugated hyp...	OMIM:613280
Kearns-Sayre Syndrome	Progressive intervertebral space narrowing, Skeletal muscle atrophy, Delayed skeletal maturation,...	ORPHA:480
Lujo Hemorrhagic Fever	Shock, Facial edema, Myocarditis, Leukocytosis, Periorbital edema, Atelectasis, Cerebral edema, S...	ORPHA:319213
Congenital Disorder Of Glycosylation, Type Iic	Short foot, Brachydactyly	OMIM:266265
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100083
Micro Syndrome	Short stature, Joint stiffness, Micrognathia, Cryptorchidism, Kyphosis, High palate, Short philtr...	ORPHA:2510
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia...	OMIM:608013
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Pseudopseudohypoparathyroidism	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:612463
Atypical Rett Syndrome	Growth delay, Kyphosis, Scoliosis	ORPHA:3095
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Vertebra...	OMIM:312870
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Lujan-Fryns Syndrome	Atrial septal defect, Arachnodactyly, Camptodactyly of finger, Brachydactyly	ORPHA:776
Aspergillosis	Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Dyspnea, Asthma, Chronic pulmonary ...	ORPHA:1163
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Brachydactyly	OMIM:603233
Orofaciodigital Syndrome Type 6	Low-set, posteriorly rotated ears, Syndactyly, Mesoaxial polydactyly, Apnea, Episodic tachypnea, ...	ORPHA:2754
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Atopic dermatitis, Leukocytosis, Weight...	ORPHA:2902
Thrombocytopenia-Absent Radius Syndrome	Short stature, Shoulder muscle hypoplasia, Eosinophilia, Micrognathia, Thrombocytopenia, Leukocyt...	OMIM:274000
Williams-Beuren Syndrome	Osteopenia, Joint laxity, Failure to thrive in infancy, Short stature, Kyphoscoliosis, Flexion co...	OMIM:194050
Prune Belly Syndrome	Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Tetralogy ...	ORPHA:2970
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Bronchiecta...	OMIM:616576
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ...	OMIM:617866
Joubert Syndrome 16	Polydactyly	OMIM:614465
Agammaglobulinemia 10, Autosomal Dominant	Recurrent respiratory infections, Transient neutropenia, Absent circulating B cells, Recurrent si...	OMIM:619707
Developmental Malformations-Deafness-Dystonia Syndrome	Short stature, Kyphosis, Orofacial cleft, Macroglossia, Scoliosis	ORPHA:79107
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Micrognathia, Kyphosis, Deep philtrum, Cryptorchidism, Cleft palate, Do...	ORPHA:404440
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Hypoplastic sc...	OMIM:210720
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Pneumonia, Edema, Pericardial effusi...	OMIM:615846
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Leukocytosis, Cerebral edema, Thrombocytopenia	ORPHA:83601
You-Hoover-Fong Syndrome	Accessory oral frenulum, Cleft palate, Kyphoscoliosis	OMIM:616954
Charge Syndrome	Aortic arch aneurysm, Polyhydramnios, Patent ductus arteriosus, Abnormal cardiac septum morpholog...	ORPHA:138
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Short philtrum, Decreased ...	ORPHA:500150
2P15P16.1 Microdeletion Syndrome	Prominent metopic ridge, Camptodactyly of finger, Facial palsy, Kyphosis, Narrow mouth, Retrognat...	ORPHA:261349
Trisomy 13	Median cleft lip, Abnormality of the dentition, Kyphosis, High, narrow palate, Cryptorchidism, Cl...	ORPHA:3378
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Dystonia 31	Abnormal posturing	OMIM:619565
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Abnormal coronary art...	ORPHA:3427
Diamond-Blackfan Anemia 7	Macrocytic anemia, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defect, Pate...	OMIM:612562
Hypophosphatemic Rickets, X-Linked Recessive	Enlargement of the ankles, Short stature, Osteomalacia, Recurrent fractures, Enlargement of the w...	OMIM:300554
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Cranial hyperostosis, Scoliosis	OMIM:612918
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Hypochromic microcytic anemia, Growth delay, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Carpenter Syndrome 2	Craniosynostosis, Short neck, Bilateral cryptorchidism, Cryptorchidism, High, narrow palate, Cari...	OMIM:614976
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Eczema, Allergic rhiniti...	OMIM:615816
Kury-Isidor Syndrome	Finger syndactyly, Ventricular septal defect, Rocker bottom foot, Proximal placement of thumb, Hi...	OMIM:619762
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf...	OMIM:613680
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, 2-3 toe syndactyly, Small thenar eminence, Joint contracture of the 4th finger, Joint...	OMIM:618914
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Micrognathia, Kyphosis, Cryptorchidism, Non-midline cleft lip, C...	ORPHA:2075
Duane-Radial Ray Syndrome	Facial palsy, Spina bifida occulta, Fused cervical vertebrae, Shoulder dislocation, Small thenar ...	OMIM:607323
Wolfram Syndrome 1	Sideroblastic anemia, Megaloblastic anemia, Stroke-like episode, Cardiomyopathy, Thrombocytopenia	OMIM:222300
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Short neck, Micrognathia, Kyph...	ORPHA:958
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphade...	ORPHA:100075
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal dental morphology, Tarsal synostosis, Abnormal dental enamel morphology, Micrognathia, K...	ORPHA:85199
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, Colonic eosi...	OMIM:618999
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume	OMIM:300048
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita	OMIM:617143
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphade...	ORPHA:97287
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Stroke-like epis...	OMIM:300845
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone-shaped ...	ORPHA:439822
Fibular Hemimelia	Joint laxity, Decreased hip abduction, Craniosynostosis, Joint stiffness, Limitation of joint mob...	ORPHA:93323
Skraban-Deardorff Syndrome	Right aortic arch, Ventricular septal defect	OMIM:617616
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Fetal Trimethadione Syndrome	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ...	ORPHA:1913
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:83473
Lowry-Wood Syndrome	Epiphyseal dysplasia, Elbow dislocation, Coxa vara, Irregular epiphyses, Abnormal epiphysis morph...	ORPHA:1824
Phaver Syndrome	Pulmonary artery atresia, Hypoplastic aortic arch, Ventricular septal defect, Coarctation of aorta	ORPHA:2876
Fanconi Anemia	Micrognathia, Reduced bone mineral density, Leukopenia, High palate, Short stature, Aplasia/Hypop...	ORPHA:84
Relapsing Fever	Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Hypotension, Thrombocytop...	ORPHA:91547
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly	OMIM:607361
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Dental crowding, Micrognathia, Kyphosis, Oligodontia,...	OMIM:617061
Wolf-Hirschhorn Syndrome	Sacral dimple, Abnormality of the philtrum, Congenital diaphragmatic hernia, Cleft upper lip, Mic...	ORPHA:280
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphade...	ORPHA:100080
Gaucher Disease, Type Ii	Double aortic arch, Splenomegaly, Anemia, Bronchiolitis, Failure to thrive, Recurrent aspiration ...	OMIM:230900
Rett Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Abnormality of the dentition, Kyphosis, Scoliosis	OMIM:312750
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Cryptorchidism, Flexion contracture, Hypogonadism, Scoliosis...	ORPHA:500055
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemophagocytosis, ...	OMIM:301078
Diamond-Blackfan Anemia 21	Hallux valgus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial hand polydacty...	OMIM:620072
Dopamine Beta-Hydroxylase Deficiency	Elevated circulating creatinine concentration, Anemia, Increased blood urea nitrogen	ORPHA:230
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Edema, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Lymphadenopathy, Hemop...	OMIM:603553
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin...	ORPHA:85167
Mmep Syndrome	Ventricular septal defect	ORPHA:3434
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Weight los...	OMIM:212750
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Right ventricular hypertrophy, Atrial septal defect, Clinodactyly, Pat...	OMIM:614261
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Weight loss, Lymphadeno...	ORPHA:100078
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic lymphatic leu...	OMIM:616005
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ...	ORPHA:91139
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Short stature, Hyperlordosis, Limb-girdle muscular dystrophy, Scoliosis, Intrauterine growth reta...	OMIM:615356
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane...	OMIM:304790
Marfanoid Habitus With Situs Inversus	Mandibular prognathia, Hyperextensibility of the finger joints, Genu recurvatum, Kyphosis, Scoliosis	OMIM:609008
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, S...	OMIM:602450
Meckel Syndrome, Type 10	Ulnar deviation of the hand, Abnormal pinna morphology, Postaxial polydactyly, Postaxial hand pol...	OMIM:614175
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi...	ORPHA:911
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Splenomegaly, Anemia, Leukopenia...	ORPHA:64743
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Micrognathia, Anisopoikilocytosis, A...	ORPHA:46059
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Severe short ...	ORPHA:2636
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Cachexia, Splenomegaly, Myocard...	ORPHA:3452
Developmental And Epileptic Encephalopathy 66	Ventricular septal defect, Dextrocardia, Neutropenia, Atrial septal defect, Anemia	OMIM:618067
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Truncal titubation, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Pericarditis, Portal hypertension, Edema, Pericardial effusion, Hepatosplenomeg...	OMIM:619487
Jaberi-Elahi Syndrome	Joint stiffness, Kyphosis, Scoliosis, Triangular mouth, Failure to thrive, Joint hypermobility	OMIM:617988
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus arteriosus, Pulmonary v...	ORPHA:210122
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Bicuspid aortic valve, Mesomelia, Camptodactyly, Prominent fingertip pa...	OMIM:618529
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosinophilia, Acut...	ORPHA:486
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Marfan Syndrome	Decreased muscle mass, Genu recurvatum, Protrusio acetabuli, Kyphoscoliosis, Dental crowding, Mic...	OMIM:154700
Cog4-Cdg	Recurrent upper respiratory tract infections, Failure to thrive in infancy, Thrombocytopenia, Hep...	ORPHA:263501
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucency, Hypotension, ...	OMIM:615668
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia	OMIM:616277
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Obstruction...	ORPHA:99867
Distal Deletion 15Q	Bicuspid aortic valve, Mitral atresia, Small for gestational age, Double outlet right ventricle w...	ORPHA:1596
Li-Campeau Syndrome	Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale	OMIM:619189
Congenital Myopathy 9A	Obesity, Akinesia	OMIM:618822
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Vulval varicose vein, Weight loss, Varicose veins, Syncope,...	ORPHA:71273
Czech Dysplasia	Flexion contracture, Limitation of joint mobility, Irregular vertebral endplates, Platyspondyly, ...	OMIM:609162
Orotic Aciduria	Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res...	OMIM:258900
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis, Intrauterine growth retardation, Limb hypertonia	OMIM:619909
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Craniosynostosis, Kyphosis, High, narr...	OMIM:616914
Becker Nevus Syndrome	Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis	ORPHA:64755
Joubert Syndrome 27	Polydactyly	OMIM:617120
Mogs-Cdg	Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Atrial septal defect, L...	ORPHA:79330
Pediatric-Onset Graves Disease	Craniosynostosis, Accelerated skeletal maturation, Splenomegaly, Neutropenia in presence of anti-...	ORPHA:525731
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Obesity, Narrow mouth	ORPHA:261222
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Multiple joint contractures, Difficulty walking	ORPHA:320406
Atelis Syndrome 2	Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Anemia, Downturned co...	OMIM:620185
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Clinodactyly, Single transverse palmar crease, Brachydactyly, Camptodactyly	OMIM:613604
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali...	ORPHA:353277
Cystic Echinococcosis	Multiple pulmonary cysts, Pulmonary cyst, Eosinophilia, Abscess, Abnormal heart morphology, Weigh...	ORPHA:400
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Syngap1-Related Developmental And Epileptic Encephalopathy	Anteverted ears, Macrotia, Postaxial polydactyly	ORPHA:544254
Vacterl/Vater Association	Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Cryptorchidism, Abnorma...	ORPHA:887
2Q31.1 Microdeletion Syndrome	Prominent metopic ridge, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Kyphos...	ORPHA:251014
Fucosidosis	Decreased muscle mass, Abnormality of the dentition, Kyphosis, Anterior beaking of lumbar vertebr...	ORPHA:349
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Weight loss, Abnormal left ve...	ORPHA:3208
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Cone-shaped epiphysis, Palmoplantar keratoderma, Arachnodactyly, Brachydactyly	ORPHA:2824
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Asplenia, Kyphosis, Cryptorchidism, Cleft lip, Cleft palate, Camptodactyly	OMIM:619123
Methimazole Embryofetopathy	Abnormal aortic morphology, Ventricular septal defect, Polyhydramnios, Coarctation of aorta	ORPHA:1923
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shorte...	ORPHA:163654
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Natal tooth, Broad hallux, Facial palsy, Optic disc coloboma, Pulmonary arterial ...	OMIM:620186
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly...	ORPHA:435638
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Cryptorchidism, Sensorineural hearing impairment, Failure to thrive, Postaxial polydactyly	OMIM:615824
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios...	ORPHA:284169
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Skin rash, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:147060
Tarp Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Small earlobe, Apnea, Single transverse pal...	ORPHA:2886
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphade...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphade...	ORPHA:100082
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T...	OMIM:614520
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Recurrent fractures, Micrognathia, Persistence of primary teeth, Nar...	ORPHA:2785
Opsismodysplasia	Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Abnormal epiphysis morphology, Abnor...	ORPHA:2746
Gaucher Disease	Joint dislocation, Osteopenia, Osteoarthritis, Bone pain, Avascular necrosis, Increased bone mine...	ORPHA:355
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volu...	OMIM:127550
Iniencephaly	Rhizomelia, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Orofacial cleft, Nar...	ORPHA:63259
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr...	ORPHA:49041
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Retrognathia, Scoliosis, Limb hypertonia	ORPHA:457351
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Coffin-Siris Syndrome 2	Brachydactyly, Abnormal heart morphology, Sandal gap, Short distal phalanx of finger	OMIM:614607
Tarp Syndrome	Atrial septal defect, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly,...	OMIM:311900
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, B lymphocytopenia, Recurrent bronchitis, Abnormal T cell morphology	OMIM:612692
Fanconi Anemia, Complementation Group E	Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne...	OMIM:600901
Zika Virus Disease	Ankle swelling, Wrist swelling, Arthritis, Increased circulating IgM level, Intrauterine growth r...	ORPHA:448237
Oculomaxillofacial Dysostosis	Abnormality of the humerus, Adducted thumb, Camptodactyly of finger, Brachydactyly	ORPHA:1794
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, T lymphocytopenia, B lymphocytopenia, Recurrent sinu...	ORPHA:217390
Pericardial And Diaphragmatic Defect	Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Palpitations, Pulmona...	ORPHA:2847
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:94080
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Akinesia, Limb dystonia	OMIM:616840
Postencephalitic Parkinsonism	Resting tremor, Oculogyric crisis, Tremor by anatomical site, Akinesia	ORPHA:97349
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures, Abnormal posturing, Abnormality of the tongue, Weight loss	ORPHA:216866
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Severe short stature, Joint stiffness, Hypoplas...	ORPHA:2588
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short iliac bones, Metaphyseal widening, Short foot, Acetabular spurs, Broad long bon...	OMIM:614376
Tangier Disease	Accelerated atherosclerosis, Chronic noninfectious lymphadenopathy, Carotid artery stenosis, Hepa...	ORPHA:31150
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Marfan Syndrome	Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Dental crowding, Protrusio acetabuli, ...	ORPHA:558
Sandifer Syndrome	Abnormal posturing, Torticollis, Anemia, Decreased cervical spine mobility	ORPHA:71272
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Short toe, Subvalvular aortic stenosis, Short phalanx ...	OMIM:600430
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Vascular ring	OMIM:603387
Cdags Syndrome	Sagittal craniosynostosis, Kyphosis, Cleft palate, Lambdoidal craniosynostosis, Malar flattening,...	OMIM:603116
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Failure to thrive, Thrombocy...	OMIM:267700
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Camptodactyly, Malar flattening, Joint contracture of the hand	OMIM:608257
Joubert Syndrome 7	Central apnea, Episodic tachypnea, Postaxial polydactyly, Postaxial hand polydactyly, Tachypnea, ...	OMIM:611560
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Low-set ears, Asp...	ORPHA:314655
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Abnormal pelvic girdle b...	ORPHA:1458
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Edema, Leukocytosis, Dilated cardiomyopathy, Dehydration, Weight loss, Leukopenia...	ORPHA:20
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Cachexia, Vacuolated lymphocyt...	ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Micrognathia, Thrombocytopenia, Splenomegaly, Supernumerary tooth, Osteoporosi...	OMIM:619525
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Marden-Walker Syndrome	Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Joint stiffness, Microgna...	ORPHA:2461
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Short neck, Micrognathia, Widely-spaced maxillary central incisors, H...	OMIM:309580
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Myocardial infarction, Abnormality...	ORPHA:36426
Alveolar Echinococcosis	Liver abscess, Pulmonary cyst, Abnormal pericardium morphology, Eosinophilia, Portal hypertension...	ORPHA:284
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Ventricular septal defect, Large for gestational age, Pulmonary artery stenosis, Acute lymphoblas...	OMIM:280000
Diabetic Embryopathy	Ventricular septal defect, Tetralogy of Fallot, Abnormal aortic morphology, Transposition of the ...	ORPHA:1926
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Hearing impairment, Postaxial hand polydactyly, Asthma, Obesit...	OMIM:209900
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Narrow joint spaces of the elbow, Decreased muscle mass, Small for gestational age, Dental crowdi...	ORPHA:96182
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Polyhydramnios, Transposition of the great arteries, Pulmonary hypoplasia, Neonatal...	OMIM:314390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Focal Dermal Hypoplasia	Joint laxity, Delayed eruption of teeth, Congenital hip dislocation, Short stature, Diastasis rec...	OMIM:305600
Tonne-Kalscheuer Syndrome	Abnormal heart morphology, Broad thumb, Brachydactyly	OMIM:300978
Combined Oxidative Phosphorylation Deficiency 55	Skeletal muscle atrophy, Short stature, Thrombocytopenia, Type 2 muscle fiber predominance, Myopa...	OMIM:619743
Stt3B-Cdg	Failure to thrive, Thrombocytopenia	ORPHA:370924
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Failu...	OMIM:102700
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Pancytopenia, Epistaxis, Edema, ...	ORPHA:167
Laron Syndrome	Short toe, Abnormality of the elbow, Brachydactyly	ORPHA:633
Classic Homocystinuria	Dental crowding, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, High ...	ORPHA:394
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, S...	ORPHA:522077
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Smith-Magenis Syndrome	Broad palm, Abnormal heart morphology, Short palm, Abnormal forearm morphology, Brachydactyly	OMIM:182290
Martin-Probst Syndrome	Pancytopenia, Short stature, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malo...	OMIM:300519
Agammaglobulinemia 8A, Autosomal Dominant	B lymphocytopenia	OMIM:616941
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure, Weight loss, Cardiomyo...	ORPHA:465508
Smith-Kingsmore Syndrome	Smooth philtrum, Thin upper lip vermilion, Rhizomelia, Diastasis recti, Large for gestational age...	OMIM:616638
Lig4 Syndrome	Recurrent respiratory infections, Pancytopenia, Small for gestational age, Telangiectasia, Acute ...	OMIM:606593
Poland Syndrome	Congenital diaphragmatic hernia, Short neck, Kyphosis, Cryptorchidism, Aplasia of the pectoralis ...	ORPHA:2911
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop...	ORPHA:99827
Congenital Disorder Of Glycosylation, Type Ix	Failure to thrive, Thrombocytopenia	OMIM:615597
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
Woolly Hair Nevus	Brachydactyly	ORPHA:79414
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Short stature, Overweight, Cranial hyperostosis, High palate, Decreased testicular size	ORPHA:457240
Cowden Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Decreased circulating antibody level, Hydrocel...	OMIM:158350
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Increased nuchal translucency, Coarctation of aorta, Abnormal heart mo...	OMIM:618494
Fanconi Anemia, Complementation Group A	Pancytopenia, Small for gestational age, Reticulocytopenia, Abnormal heart morphology, Anemia, Ne...	OMIM:227650
Recon Progeroid Syndrome	Joint laxity, Skeletal muscle atrophy, Prominence of the premaxilla, Smooth philtrum, Short statu...	OMIM:620370
Sepsis In Premature Infants	Tachycardia, Small for gestational age, Edema, Splenomegaly, Leukocytosis, Anemia, Bradycardia, H...	ORPHA:90051
Syndromic Diarrhea	Aortic regurgitation, Lymphopenia, Ventricular septal defect, Bicuspid aortic valve, Increased me...	ORPHA:84064
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Thin upper lip vermilion, Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Downtur...	OMIM:619557
Short Stature With Microcephaly And Distinctive Facies	Syndactyly, Short digit, Death in infancy, Proximal placement of thumb, Talipes equinovarus, Shor...	OMIM:615789
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Micrognathia, De...	OMIM:619503
Aspartylglucosaminuria	Joint laxity, Short stature, Kyphosis, Delayed skeletal maturation, Vacuolated lymphocytes, Thick...	OMIM:208400
Occipital Horn Syndrome	Joint laxity, Persistent open anterior fontanelle, Kyphosis, Capitate-hamate fusion, Osteoporosis...	OMIM:304150
Mckusick-Kaufman Syndrome	Finger syndactyly, Ventricular septal defect, Tarsal synostosis, Postaxial hand polydactyly, Post...	ORPHA:2473
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydramnios, Pate...	OMIM:605275
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal metacarpal morphology, Short distal phalanx of finger, Brachydactyly, Genu valgum	ORPHA:1295
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Cortical sclerosis, Postnatal growth retardation, Osteopetrosis, ...	OMIM:620366
Cushing Disease	Intra-oral hyperpigmentation, Leukocytosis, Osteoporosis, Increased body weight, Secondary amenor...	ORPHA:96253
Li-Ghorbani-Weisz-Hubshman Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:618974
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Polyhydramnios, Right ventricular dilatation, At...	OMIM:619472
Vitamin K Antagonist Embryofetopathy	Epiphyseal stippling, Brachydactyly, Short distal phalanx of finger	ORPHA:1914
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Drumstick terminal phalanges, Death in childhood, Hypertrophic cardiom...	OMIM:612938
Shprintzen Omphalocele Syndrome	Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Scoliosis, Decreased body w...	OMIM:182210
Retinitis Pigmentosa 51	Polydactyly	OMIM:613464
Grange Syndrome	Syndactyly, Bicuspid aortic valve, Finger clinodactyly, Coronary artery stenosis, Brachydactyly	OMIM:602531
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ...	OMIM:615279
Dent Disease 1	Enlargement of the ankles, Short stature, Recurrent fractures, Osteomalacia, Enlargement of the w...	OMIM:300009
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response, Failure to thrive, Joint contracture	OMIM:617864
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Failure to th...	ORPHA:90045
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Broad thumb, Brachydactyly	OMIM:614526
Intellectual Developmental Disorder, Autosomal Recessive 79	Ventricular septal defect	OMIM:620393
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Ventricular septal defect, Bilateral single transverse palmar creases, Large hands, Broad thumb, ...	ORPHA:1770
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defect	OMIM:616898
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Death in infancy, Adactyly, Split hand, Aplasia/Hypoplasia of f...	ORPHA:989
Pneumocystosis	Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int...	ORPHA:723
Shigellosis	Failure to thrive in infancy, Abscess, Pneumonia, Myocarditis, Leukocytosis, Dehydration, Hypovol...	ORPHA:810
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, Cryptorchidism, High palate, Shor...	OMIM:619244
Galloway-Mowat Syndrome	Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger, Micrognathia, Ab...	ORPHA:2065
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Sacral dimple, Tented upper lip vermilion, Facial hypotonia, Short neck...	OMIM:613458
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Brachydactyly	ORPHA:79320
Idiopathic Bronchiectasis	Cachexia, Myocardial infarction, Respiratory tract infection, Emphysema, Bronchiectasis, Acute in...	ORPHA:60033
Undifferentiated Pleomorphic Sarcoma	Weight loss	ORPHA:2023
Vici Syndrome	Micrognathia, T lymphocytopenia, Leukopenia, High palate, Neutropenia, Decreased circulating IgG ...	OMIM:242840
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of...	ORPHA:221
Prolidase Deficiency	Splenomegaly, Recurrent pneumonia, Diffuse telangiectasia, Anemia, Failure to thrive, Thrombocyto...	OMIM:170100
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar...	OMIM:613834
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hyp...	OMIM:617506
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Alg3-Cdg	Cardiomyopathy, Pulmonary hypoplasia, Coarctation of the descending aortic arch	ORPHA:79321
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Floating-Harbor Syndrome	Enlarged joints, Small for gestational age, Short stature, Kyphoscoliosis, Short neck, Avascular ...	ORPHA:2044
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardiac death, Abnormal ple...	ORPHA:537
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect	OMIM:613870
Lymphedema-Hypoparathyroidism Syndrome	Mitral valve prolapse, Increased carrying angle, Brachydactyly	OMIM:247410
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:613662
Craniotubular Dysplasia, Ikegawa Type	Short stature, Increased intervertebral space, Thick lower lip vermilion, Platyspondyly, Sclerosi...	OMIM:619727
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis, Obesity	ORPHA:77296
Trigonocephaly With Short Stature And Developmental Delay	Small for gestational age, Ventricular septal defect	OMIM:314320
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Kyphoscoliosis, Joint stiffness, Micrognathia, Cryptorchidism, Chordee, Long philtrum	OMIM:618820
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Neonatal alloimmune thrombocytopenia, Intra...	ORPHA:853
Adams-Oliver Syndrome 5	Syndactyly, Brachydactyly, Pulmonic stenosis, Right ventricular hypertrophy, Patent foramen ovale...	OMIM:616028
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Smooth philtrum, Severe B lymphocytopenia, Cra...	OMIM:620005
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Leukocytosis, Capillary leak, Intracranial...	ORPHA:340
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Abscess, Edema, Pneumonia, Respiratory tract infection, Myocarditis, Increase...	ORPHA:36234
Avian Influenza	Pneumonia, Congestive heart failure, Pneumothorax, Leukopenia, Pleural effusion, Lymphopenia, Thr...	ORPHA:454836
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Tented upper lip vermilion, Micrognathia, Kyphosis, Cont...	ORPHA:521426
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Congenital diaphragmatic hern...	OMIM:122470
Zttk Syndrome	Short stature, Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Kyphosi...	OMIM:617140
Classic Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly, Bone marrow hypocellularity, Weight loss	ORPHA:391
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Dehydration, Edema, Weight loss	ORPHA:103910
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Tented upper lip vermilion, Micrognathia, Kyphosis, Contractures of the large joints, High palate...	OMIM:617527
Aicardi-Goutieres Syndrome 1	Splenomegaly, Cardiomyopathy, Vasculitis, Thrombocytopenia	OMIM:225750
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Ventricular septal defect	ORPHA:3369
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Periorbital edema, Splenomegaly, Lymphadenopathy, Anemia, Failure to thrive, Thrombo...	OMIM:617591
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Short stature, Recurrent fractures, Thrombocytopenia, Splenomegaly, Dela...	OMIM:222700
Acitretin/Etretinate Embryopathy	Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A...	ORPHA:40366
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Lowe...	ORPHA:573278
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:607598
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Osteopenia, Dental crowding, Joint stiffness, Postnatal growth retardation, Micrognat...	OMIM:248370
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Death in infancy, Early ossification of capital femoral epiphyses, Cone-s...	OMIM:208500
Fryns Syndrome	Polyhydramnios, Abnormal aortic arch morphology, Abnormal cardiac septum morphology, Abnormal aor...	ORPHA:2059
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Larg...	ORPHA:77301
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Micrognathia, Abnormality of the dentition, Kyphosis, Eruption failure, High pal...	ORPHA:476126
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent respiratory infections, Decreased propor...	OMIM:606367
Hyperekplexia 2	Exaggerated startle response, Hiatus hernia	OMIM:614619
Netherton Syndrome	Recurrent skin infections, Allergic rhinitis, Eczema, Asthma, Hypereosinophilia, Chronic rhinitis...	OMIM:256500
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Hyperekplexia 3	Exaggerated startle response, Hiatus hernia	OMIM:614618
Erdheim-Chester Disease	Abnormal pericardium morphology, Congestive heart failure, Abnormal pulmonary interstitial morpho...	ORPHA:35687
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Eosinophilia, Myositis	OMIM:253600
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251110
Rheumatoid Arthritis	Joint swelling, Vasculitis, Weight loss	OMIM:180300
Keutel Syndrome	Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent...	ORPHA:85202
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetal...	OMIM:616897
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Small for gestational age, Ventricular septal defect, Polyhydramnios, Large for gestational age, ...	ORPHA:254534
Occipital Horn Syndrome	Osteopenia, Osteomalacia, Avascular necrosis of the capital femoral epiphysis, Kyphosis, High, na...	ORPHA:198
Cryptogenic Organizing Pneumonia	Pneumothorax, Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Broad palm,...	OMIM:305400
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Failure to thriv...	OMIM:615512
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Prominent metopic ridge, Short stature, Dental ...	OMIM:614188
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Prominent fingertip pads, Branchial anomaly, Brachydactyly, Short palm	ORPHA:466950
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Weight loss	ORPHA:26790
Multiple Endocrine Neoplasia Type 2	Joint laxity, Kyphoscoliosis, Hyperlordosis, Abnormal tongue morphology, Proximal amyotrophy, Thi...	ORPHA:653
Cowden Syndrome 5	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hydrocele testis, High palate...	OMIM:615108
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Head titubation, Kyphosis, Knee flexion contracture, Lymphopenia, Absent uvula	OMIM:619708
Immunodeficiency 40	Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte...	OMIM:616433
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Ménétrier Disease	Gastrointestinal hemorrhage, Peripheral edema, Hypochromic microcytic anemia, Weight loss	ORPHA:2494
Hereditary Late-Onset Parkinson Disease	Resting tremor, Akinesia, Weight loss, Shuffling gait, Dystonia	ORPHA:411602
Primrose Syndrome	Skeletal muscle atrophy, Bilateral cryptorchidism, Hypoplasia of the maxilla, Flexion contracture...	OMIM:259050
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Short stature, Micrognathia, Cryptorchidism, Cleft lip, Furrowed tongue, Hi...	OMIM:616975
Orofaciodigital Syndrome Iii	Kyphosis, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Thrombocytopenia, Sp...	OMIM:214500
Coffin-Siris Syndrome 7	Ventricular septal defect, Bicuspid aortic valve, Clinodactyly of the 5th finger, Patent foramen ...	OMIM:618027
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Brachydactyly, Abnormal metacarpal morphology	ORPHA:93262
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Beta-Ketothiolase Deficiency	Edema, Leukocytosis, Dehydration, Weight loss, Hypertension, Hypotension, Thrombocytosis	ORPHA:134
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Tachycardia, Ventricular septal defect, Small for gestational age, Pneumon...	ORPHA:26793
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Atrial septal defect, Ventricular septal defect, Pulmonic stenosis	OMIM:614262
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen	OMIM:223360
Bardet-Biedl Syndrome 6	Syndactyly, Postaxial polydactyly	OMIM:605231
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet...	OMIM:608643
Choanal Atresia	Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A...	ORPHA:137914
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Joubert Syndrome 15	Preaxial polydactyly	OMIM:614464
Jacobsen Syndrome	Smooth philtrum, Short stature, Short neck, Cryptorchidism, Hip dislocation, Abnormal form of the...	ORPHA:2308
3-Methylglutaconic Aciduria, Type Viib	Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehydration, Leukopenia, Neutropen...	OMIM:616271
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Kyphosis, Ankle clonu...	OMIM:211530
Miller-Dieker Lissencephaly Syndrome	Failure to thrive, Posteriorly rotated ears, Single transverse palmar crease, Cryptorchidism, Dee...	OMIM:247200
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:154230
Pseudohypoparathyroidism Type 1A	Calcinosis, Delayed eruption of teeth, Increased bone mineral density, Hypergonadotropic hypogona...	ORPHA:79443
Immunodeficiency 70	Decreased proportion of CD4-positive helper T cells, B lymphocytopenia, Recurrent sinusitis	OMIM:618969
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Recurrent upper respiratory tract infections, B lymphocytopenia, Pneumonia, Chronic bronchitis	OMIM:614069
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Thin upper lip vermilion, Short neck, Prominent crus of helix, Kyphosis, Cryptor...	OMIM:619194
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch...	OMIM:308230
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Mitral valve prolapse, Short distal phalanx of finger	ORPHA:1563
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Tibial bowing, Femoral bowing, Short tibia, Short phalanx of fin...	OMIM:601559
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Weaver Syndrome	Dysharmonic bone age, Mandibular prognathia, Diastasis recti, Accelerated skeletal maturation, Ky...	OMIM:277590
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Atrial septal defect, Abnormal mitral valve morphology, Symphalangism affecting the phalanges of ...	ORPHA:1292
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Abnormal mor...	ORPHA:570
Greenberg Dysplasia	Micromelia, Tetraphocomelia, Hypoplasia of the calcaneus, Neonatal death, Short phalanx of finger...	OMIM:215140
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia	OMIM:618056
Acute Radiation Syndrome	Telangiectasia, Interstitial pneumonitis, Granulocytopenia, Hypotension, Lymphopenia, Thrombocyto...	ORPHA:454831
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Short stature, Tracheomalacia, Micrognathia, Obesity, Downturned corner...	ORPHA:444077
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphopenia, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T ce...	ORPHA:169154
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Asthma, Bronchiectasis, Hypochromic microcytic anemia, Crohn's disease, Decrease...	OMIM:619632
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Ventricular septal defect, Secundum atrial septal defect, Congenital lobar overinflation, Coarcta...	OMIM:600987
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe...	ORPHA:79282
Hyperekplexia 1	Umbilical hernia, Exaggerated startle response, Inguinal hernia	OMIM:149400
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Abdominal obesity, Atrial ...	OMIM:301039
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Hardikar Syndrome	Short stature, Thoracolumbar scoliosis, Cleft soft palate, Hypersplenism, Splenomegaly, Osteoporo...	OMIM:301068
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Cachexia, Abnormality...	ORPHA:2072
Liposarcoma	Varicose veins, Weight loss	ORPHA:69078
Mucopolysaccharidosis Type 3	Mixed hearing impairment, Thickened helices, Abnormality of the middle ear ossicles, Avascular ne...	ORPHA:581
Cowden Syndrome 6	Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, Hydrocele testis, High palate...	OMIM:615109
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
3Mc Syndrome 1	Sacral dimple, Dental crowding, Diastasis recti, Cleft upper lip, Postnatal growth retardation, C...	OMIM:257920
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
Von Willebrand Disease, Type 3	Joint hemorrhage, Impaired platelet aggregation, Epistaxis, Thrombocytopenia	OMIM:277480
Spondyloepimetaphyseal Dysplasia, Krakow Type	Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, 2-3 toe syndactyly, Irregular epi...	OMIM:618162
Temtamy Syndrome	Short 2nd toe, Hip dislocation, Talipes equinovarus, Brachydactyly	OMIM:218340
Bardet-Biedl Syndrome 20	Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly, Asthma, 2-3 toe synd...	OMIM:619471
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Feingold Syndrome	Hallux valgus, Toe syndactyly, Deviation of the 2nd finger, Clinodactyly of the 5th finger, Brach...	ORPHA:1305
Arthrogryposis Multiplex Congenita 6	Arthrogryposis multiplex congenita, Akinesia	OMIM:619334
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Low-set, posteriorly rotated ears, Abnormal acetabulum morphology, Apnea, Postaxial polydactyly, ...	ORPHA:397715
Neurofibroma	Enlargement of parotid gland, Spinal canal stenosis, Kyphoscoliosis	ORPHA:252183
Gracile Bone Dysplasia	Slender long bone, Flared metaphysis, Death in infancy, Brachydactyly	OMIM:602361
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Ventricular septal defect	OMIM:618506
Cronkhite-Canada Syndrome	Splenomegaly, Cachexia, Anemia, Lymphedema	ORPHA:2930
Huntington Disease-Like 1	Abnormal posturing, Weight loss	ORPHA:157941
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Kyphosis, Ankle clonus, Scoliosis, Lower limb muscle weakness	ORPHA:88644
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly	OMIM:618381
Central Diabetes Insipidus	Failure to thrive, Dehydration, Weight loss	ORPHA:178029
Dpagt1-Cdg	Ataxia, Lipodystrophy, Akinesia, Tremor, Inability to walk, Flexion contracture, Osteoporosis, Ca...	ORPHA:86309
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel...	ORPHA:158061
Branchiooculofacial Syndrome	Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Postnatal growth retardation, ...	OMIM:113620
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocyt...	ORPHA:3322
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect	OMIM:616816
Meckel Syndrome, Type 2	Bowing of the long bones, Polydactyly, Postaxial hand polydactyly	OMIM:603194
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Radioulnar synostosis...	OMIM:614701
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Micrognathia, Postnatal growth retardation, Cryptorchidism, Conical t...	OMIM:263750
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios	OMIM:263630
Larsen Syndrome	Finger syndactyly, Accessory carpal bones, Abnormal epiphysis morphology, Broad distal phalanx of...	ORPHA:503
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Recurrent bacterial upper respiratory tract infections, Decreased proportion of memory B cells, B...	ORPHA:70593
Jacobsen Syndrome	Short neck, Micrognathia, Cryptorchidism, Flexion contracture, Intrauterine growth retardation, U...	OMIM:147791
Filippi Syndrome	Ventricular septal defect, Decreased body weight	OMIM:272440
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Growth delay, Decreased circulating total IgM,...	OMIM:612301
Pmm2-Cdg	Osteopenia, Joint laxity, Mandibular prognathia, Multiple joint contractures, Hypogonadotropic hy...	ORPHA:79318
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o...	ORPHA:783
Isaacs Syndrome	Weight loss	ORPHA:84142
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Hogue-Janssen Syndrome 2	Deviation of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly	OMIM:616362
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Immunodeficiency 92	Pneumonia, Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia...	OMIM:619652
Oculopharyngodistal Myopathy	Recurrent aspiration pneumonia, Weight loss	ORPHA:98897
Peeling Skin Syndrome 1	Eosinophilia, Asthma, Palmoplantar hyperhidrosis, Erythroderma	OMIM:270300
Tay-Sachs Disease	Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys...	ORPHA:845
3Mc Syndrome 3	Abnormal pinna morphology, Cryptorchidism, Preaxial polydactyly, Radioulnar synostosis, Auricular...	OMIM:248340
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Kyphosis, Cleft palate, Furrowed tongue, High palate, Short philtrum,...	OMIM:616449
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Pericarditis, Recurrent intrapulmo...	ORPHA:900
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Patellar hypoplasia, Brachydactyly	ORPHA:464288
Noonan Syndrome 9	Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta	OMIM:616559
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Short stature, Carious teeth, Cryptorchidism, Premature los...	OMIM:305000
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Vexas Syndrome	Macrocytic anemia, Arteritis, Thrombocytopenia	OMIM:301054
Seckel Syndrome 9	Recurrent respiratory infections, Ventricular septal defect, Small for gestational age, Polyhydra...	OMIM:616777
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short toe, Short metatarsal, Short finger, Brachydactyly	OMIM:103580
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Recurrent pneumonia, ...	ORPHA:500159
Bent Bone Dysplasia Syndrome 1	Bent long bone, Hypoplastic pubic bone, Short clavicles, Brachydactyly	OMIM:614592
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Weight loss	ORPHA:79242
Fanconi Anemia, Complementation Group D2	Pancytopenia, Small for gestational age, Patent ductus arteriosus, Reticulocytopenia, Abnormal he...	OMIM:227646
Campomelia, Cumming Type	Death in infancy, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Hall-Riggs Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2107
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Ventricular septal defect, Bowing of the legs, Short toe, Broad palm, Short...	OMIM:269860
8Q12 Microduplication Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:228399
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Delayed cranial suture closure, Persistence of primary teeth, Postnatal growth ret...	ORPHA:93325
Holoprosencephaly-Craniosynostosis Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Coxa valga, Short distal phalanx of finger	ORPHA:2163
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Small hand, Short foot, Short...	ORPHA:1001
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Weight loss, Cachexia, Atherosclerosis	ORPHA:1979
Hypereosinophilic Syndrome, Idiopathic	Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Intellectual Developmental Disorder, Autosomal Dominant 47	Small for gestational age, Increased nuchal translucency, Ventricular septal defect	OMIM:617635
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Increased nuchal translucen...	OMIM:616564
Fraser Syndrome	Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Orofacial cleft, Vertebral...	ORPHA:2052
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Short metatarsal, Small hand, Small finger, S...	OMIM:170390
Femoral-Facial Syndrome	Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis	OMIM:134780
Chromosome Xq26.3 Duplication Syndrome	Kyphosis, Widely spaced teeth, Accelerated skeletal maturation	OMIM:300942
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis, Short hard palate, Genu varum	ORPHA:1969
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231226
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:99413
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Recurrent lower respiratory tract infections, B lymphocytopenia, Abnormal natu...	OMIM:615966
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, High pal...	ORPHA:881
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis, Palmoplantar ...	OMIM:617388
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly	OMIM:614800
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Ventricular septal defect, Dextrocardia, Situs inversus totalis...	OMIM:616037
Trichorhinophalangeal Syndrome Type 2	Bilateral single transverse palmar creases, Avascular necrosis of the capital femoral epiphysis, ...	ORPHA:502
Cowden Syndrome	Short stature, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, High palate, Scoliosis, Failur...	ORPHA:201
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:223900
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary...	ORPHA:117
Cleidocranial Dysplasia	Hypoplastic scapulae, Down-sloping shoulders, Tapered finger, Abnormal thumb morphology, Coxa var...	ORPHA:1452
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Ventricular septal defect, Brachydactyly	OMIM:619995
Serkal Syndrome	Ventricular septal defect, Pulmonary hypoplasia, Pulmonic stenosis, Oligohydramnios	ORPHA:139466
Pulmonary Alveolar Microlithiasis	Mitral valve calcification, Bronchitis, Right ventricular failure, Increased pulmonary vascular r...	ORPHA:60025
Pentalogy Of Cantrell	Ventricular septal defect, Abnormal pericardium morphology, Pulmonary hypoplasia, Polysplenia, At...	ORPHA:1335
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft palate, Micrognathia, Post...	OMIM:117650
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Bronchiectasis, B lymphocytopenia, Reduced natura...	OMIM:241600
Bardet-Biedl Syndrome 12	Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hypogonadism, Polydactyly	OMIM:615989
Autoinflammatory Disease, Systemic, X-Linked	Neutropenia, B lymphocytopenia, Cerebral hemorrhage, Hepatosplenomegaly	OMIM:301081
Ogden Syndrome	Congenital hip dislocation, Short neck, Micrognathia, Deep philtrum, Iron deficiency anemia, Shor...	OMIM:300855
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Brachydactyly	ORPHA:2180
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Cardiomyopathy, Abnormal cardiac septum morphology, Shor...	OMIM:217980
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Mediastinal lymphadenopathy, Prominent veins on trunk, Wei...	ORPHA:97289
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent pharyngitis, ...	ORPHA:293978
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Thin upper lip vermilion, Absent platelet dense granules, Reduced natural killer...	OMIM:608233
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Branchioskeletogenital Syndrome	Mandibular prognathia, Abnormality of the vertebral spinous processes, Thoracolumbar kyphoscolios...	ORPHA:1299
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Ventricular septal defect	ORPHA:94066
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lympha...	OMIM:181000
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect	OMIM:235750
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Posteriorly ...	OMIM:617237
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Dehydration, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia	OMIM:251100
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Absent thumb, Hypoplasia of the ...	ORPHA:96097
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr...	ORPHA:231214
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Hyperostosis Cranialis Interna	Calvarial hyperostosis, Osteosclerosis of the base of the skull, Facial palsy, Hyperostosis crani...	OMIM:144755
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Flexion contracture, Failure to thrive, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Atrial septal defect, Toe syndactyly, Bicuspid aortic valve, Single transverse palmar crease, Pro...	OMIM:610759
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Cachexia, Patent ductus arteriosus, Abnormal hear...	ORPHA:79076
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Holoprosencephaly 13, X-Linked	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ...	OMIM:301043
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Dental malocclusion, High palate, Cubitus valgus, Retrognathia, Malar flattening, B...	OMIM:601552
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pa...	OMIM:235255
Kapur-Toriello Syndrome	Failure to thrive, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	ORPHA:2328
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:329224
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	ORPHA:309246
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Bronchiectasis, Weight loss, Honeycomb...	ORPHA:79127
Acrofacial Dysostosis, Catania Type	Finger syndactyly, Brachydactyly, Small hand, Short palm, Clinodactyly of the 5th finger, Bilater...	ORPHA:1786
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, Cervical lymphad...	OMIM:602782
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Polydactyly, Complete duplication of thumb ...	ORPHA:59315
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic regurgitation, Failure to thrive, Obesity, Conotruncal defect, Coarctation of aorta, Abnor...	ORPHA:96147
Fetal Akinesia Deformation Sequence	Arthrogryposis multiplex congenita, Multiple joint contractures, Camptodactyly of finger, Akinesia	ORPHA:994
Atelosteogenesis Type I	Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu...	ORPHA:1190
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Ventricular septal defect	OMIM:613730
Pseudoaminopterin Syndrome	Low-set, posteriorly rotated ears, Brachydactyly, Overlapping toe, Single transverse palmar creas...	ORPHA:221120
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Broad thumb, Broad distal phalanx of finger, Brachydactyly	OMIM:617763
Keppen-Lubinsky Syndrome	Tented upper lip vermilion, Micrognathia, Postnatal growth retardation, Flexion contracture, Ging...	ORPHA:435628
Idiopathic Camptocormia	Myositis, Abnormal intervertebral disk morphology, Fatty replacement of skeletal muscle, Osteoart...	ORPHA:1320
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cachexia, Anemia, Weight loss	ORPHA:298
Agammaglobulinemia, X-Linked	Recurrent pneumonia, Cor pulmonale, Bronchiectasis, Bronchiolitis obliterans, T lymphocytopenia, ...	OMIM:300755
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Myopathy With Extrapyramidal Signs	Splenomegaly, Leukocytosis, Ventricular septal defect	OMIM:615673
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Dehydration, Weight loss, Hypovolemic shock, Recurrent upper and lo...	ORPHA:171876
Corneodermatoosseous Syndrome	Abnormality of the hand, Abnormal finger morphology, Palmoplantar keratoderma, Short palm, Abnorm...	ORPHA:3194
Nephroblastoma	Neoplasm of the lung, Hypertension, Lymphadenopathy, Weight loss	ORPHA:654
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Short metatarsal, Small hand, Cone-shaped epiphysis,...	OMIM:614813
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Short metacarpal, Abnormal metacarpal ...	ORPHA:95699
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Slender long bone, Brachydactyly	OMIM:618265
Secondary Short Bowel Syndrome	Weight loss, Failure to thrive, Dehydration, Atherosclerosis	ORPHA:95427
Caffey Disease	Joint hypermobility, Periosteal thickening of long tubular bones, Subperiosteal bone formation, C...	OMIM:114000
Neurodegeneration With Brain Iron Accumulation 1	Ataxia, Akinesia, Acanthocytosis, Tremor, Blepharospasm, Choreoathetosis, Gait disturbance, Dystonia	OMIM:234200
Osteoglophonic Dysplasia	Short metacarpal, Hypoplastic scapulae, Rhizomelia, Bowing of the long bones, Camptodactyly of fi...	OMIM:166250
Adnp Syndrome	Respiratory distress, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe mor...	ORPHA:404448
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Exaggerated startle response, Ataxia, Broad-based gait, Dystonia	ORPHA:438216
Ramon Syndrome	Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Scolios...	OMIM:266270
Huntington Disease-Like 2	Weight loss	OMIM:606438
Hypercalcemia, Infantile, 1	Failure to thrive, Dehydration, Weight loss	OMIM:143880
Pearson Syndrome	Reticulocytosis, Pancytopenia, Small for gestational age, Cardiac conduction abnormality, Thrombo...	ORPHA:699
Tick-Borne Encephalitis	Back pain, Skeletal muscle atrophy, Stiff neck, Facial palsy, Leukocytosis, Leukopenia, Increased...	ORPHA:297
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Pneumonia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Hemolytic anemia, Hypertensive crisis, Pneumonia, Edema, Respiratory tract infecti...	ORPHA:544482
Mosaic Trisomy 9	Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Polyhydramnios, Aspleni...	ORPHA:99776
Whim Syndrome	Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectasis, Recurrent upper respiratory t...	ORPHA:51636
Congenital Tracheal Stenosis	Ventricular septal defect, Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Patent duct...	ORPHA:141127
Glossopharyngeal Neuralgia	Jaw claudication, Weight loss, Syncope, Bradycardia, Vascular dilatation	ORPHA:221098
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni...	OMIM:557000
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Hypoplastic left heart	ORPHA:2772
Orofaciodigital Syndrome V	Sandal gap, Unilateral cryptorchidism, Postaxial polydactyly, Postaxial hand polydactyly, Postaxi...	OMIM:174300
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Hemolytic anemia, Autoimmune hemolytic anemia, Short stature, Rhabdomyos...	ORPHA:647
Mend Syndrome	Overlapping toe, Broad hallux, Posteriorly rotated ears, Long fingers, Cryptorchidism, 2-3 toe sy...	OMIM:300960
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Short phalanx of finger, Micromelia, Brachydactyly	OMIM:600092
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Kyphosis, High, narro...	ORPHA:464738
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Stroke, Bacterial endocardit...	ORPHA:1054
Mulibrey Nanism	Cachexia	ORPHA:2576
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Weight loss, Ascites	ORPHA:131
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia	OMIM:617101
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Crypto...	OMIM:209885
Nodular Non-Suppurative Panniculitis	Splenomegaly, Edema, Weight loss	ORPHA:33577
Sandhoff Disease, Infantile Form	Exaggerated startle response, Hepatosplenomegaly	ORPHA:309155
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Camptodactyly of finger, Bilateral single transverse palmar creases	ORPHA:2083
Generalized Arterial Calcification Of Infancy	Abnormality of the knee, Calcification of the auricular cartilage, Failure to thrive in infancy, ...	ORPHA:51608
Intellectual Developmental Disorder, Autosomal Dominant 48	Patent ductus arteriosus, Ventricular septal defect, Recurrent pneumonia, Bicuspid aortic valve	OMIM:617751
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Failure to thrive, Ventricular septal defect, Small for gestational age, In...	OMIM:222470
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Epistaxis, Abnormality of thrombocytes, Weight loss, Cardiomyopathy,...	ORPHA:79430
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia, Brachyd...	ORPHA:166035
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia, Cachexia, Cardiomegaly	ORPHA:42
Weiss-Kruszka Syndrome	Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi...	OMIM:618619
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Metaphyseal chondrodysplasia,...	OMIM:250410
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma	OMIM:610163
Marburg Hemorrhagic Fever	Shock, Lymphopenia, Pericarditis, Reticulocytosis, Tachycardia, Neutrophilia in presence of infec...	ORPHA:99826
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa...	ORPHA:2330
46,Xx Sex Reversal 5	Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect	OMIM:618901
Diamond-Blackfan Anemia 10	Macrocytic anemia, Ventricular septal defect, Patent ductus arteriosus, Reticulocytopenia, Steroi...	OMIM:613309
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl...	OMIM:210710
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Ventricular septal defect, Polyhydramnios	ORPHA:2256
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ventricular septal defect, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionat...	OMIM:263520
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Posteriorly rotated ears, Postaxial polydactyly, Tapered finger, Small hand...	OMIM:300968
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Raynaud phenomenon, Mediastinal lymphadenopathy, Respiratory tract infe...	ORPHA:79128
Osteoglosphonic Dysplasia	Rhizomelia, Brachydactyly	ORPHA:2645
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Atrial septal defect, Micromelia, Coxa vara, Narrow pelvis bone, Abnormal epiphysis morphology, H...	ORPHA:2637
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Mediastinal lymphadenopathy, Bro...	ORPHA:169105
Periventricular Nodular Heterotopia 7	Failure to thrive, Ventricular septal defect	OMIM:617201
Mend Syndrome	Sacral dimple, Short stature, Micrognathia, Asymmetry of the mouth, Cryptorchidism, Kyphosis, Cle...	ORPHA:401973
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries	OMIM:616789
Tyshchenko Syndrome	Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis	OMIM:615102
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Patent ductus arteriosus	ORPHA:861
Congenital Sialidosis Type 2	Hepatosplenomegaly, Polydactyly, Low-set ears, Hearing impairment	ORPHA:93400
Microsporidiosis	Brain abscess, Pneumonia, Cachexia, Bronchitis, Myocarditis, Abnormality of the spleen, Lymphaden...	ORPHA:2552
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Pneumonia, Bronchitis, Follicular hyperplasia, Splenomegal...	OMIM:619381
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polydactyly, Pneumoth...	OMIM:619879
Maternal Uniparental Disomy Of Chromosome 6	Cleft upper lip, Cleft palate, Hydrocele testis, Intrauterine growth retardation, Accelerated bon...	ORPHA:96181
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormal long bone morphology, Morbilliform rash...	ORPHA:228123
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Accelerated skeletal maturation, Dental malocclusion, Obesity, Ma...	ORPHA:48652
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Limb joint contracture	OMIM:620327
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Small for gestational age, Ankle flexion contracture, Kyphosis, Cryptorchidism...	ORPHA:464311
Holoprosencephaly 14	Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia	OMIM:619895
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Short stature, Cranial hyperostosis, Oligodontia, Hypodontia	OMIM:601345
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular...	ORPHA:70591
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Poorly ossified vertebrae, Scle...	ORPHA:3003
Wilson Disease	Hemolytic anemia, Osteomalacia, Joint hypermobility, Thrombocytopenia, Osteoarthritis, Splenomega...	OMIM:277900
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Malignant Peritoneal Mesothelioma	Ascites, Pedal edema, Weight loss	ORPHA:168811
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Moynahan Syndrome	Cachexia	ORPHA:2574
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Ventricular septal defect, Recurrent aspiration pneumonia	ORPHA:79243
Joubert Syndrome 39	Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly	OMIM:619562
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Syndactyly, Congenital hypoplastic anemia, Short thumb, Hemih...	OMIM:619488
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens...	ORPHA:369929
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight loss, Gra...	OMIM:608710
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi...	ORPHA:137675
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Hepatosplenomegaly, Weight loss, Hypertens...	ORPHA:85450
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	ORPHA:75389
Acute Adrenal Insufficiency	Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Weight loss, Stro...	ORPHA:95409
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Single transverse palmar crease, Cardiomegaly, Clinodacty...	OMIM:618143
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:601859
Biliary, Renal, Neurologic, And Skeletal Syndrome	Edema, Polyhydramnios, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricu...	OMIM:619534
Acrocallosal Syndrome	Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal pulmonary valve morphol...	OMIM:200990
Smith-Magenis Syndrome	Clinodactyly of the 5th finger, Toe syndactyly, Hand polydactyly, Brachydactyly	ORPHA:819
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Small for gestational age, Abnormal lung lobatio...	OMIM:614114
Chromosome 18Q Deletion Syndrome	Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Fail...	OMIM:601808
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Ventricular septal defect	ORPHA:2476
Supranuclear Palsy, Progressive, 1	Axial dystonia, Akinesia, Tremor, Falls, Gait imbalance, Retrocollis, Limb dystonia	OMIM:601104
Supranuclear Palsy, Progressive, 2	Axial dystonia, Postural tremor, Akinesia, Falls, Gait imbalance, Retrocollis	OMIM:609454
Glycine Encephalopathy With Normal Serum Glycine	Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion contracture, Ar...	OMIM:617301
Primary Sjögren Syndrome	Normocytic anemia, Lymphocytic interstitial pneumonia, Bronchitis, Raynaud phenomenon, Usual inte...	ORPHA:289390
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Portal hypertension, Splenomegaly, Ascites, Failure to thrive, Thrombocytopenia	OMIM:251880
Sandhoff Disease	Exaggerated startle response, Ataxia, Hepatosplenomegaly	OMIM:268800
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, Cleft upper lip, Cryptorchidism, High, nar...	OMIM:309800
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Short stature, Thoracolumbar kyphoscoliosis, Short neck	ORPHA:231720
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Kyphosis, High palate, Short philtrum, Malar flattening	OMIM:609944
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Abnormal diaphysis morphology, Abnorma...	ORPHA:2021
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ventricular septal defect	OMIM:610832
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Postaxial polydactyly, Cryptorchidism, Squared iliac bones, Preaxial polydactyly, Fla...	OMIM:616300
Perry Syndrome	Hypotension, Weight loss	ORPHA:178509
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Brachydactyly	OMIM:614099
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Perianal abscess, Weight loss, Iron deficiency anemia, Lymphocy...	OMIM:301074
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect, Pulmonary artery atresia	ORPHA:1908
Neuroblastoma, Susceptibility To, 1	Hypertension, Failure to thrive, Anemia, Weight loss	OMIM:256700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, High palate, High, narrow palate, Scoliosis	OMIM:177850
Neuroleptic Malignant Syndrome	Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Dehydration, Hypertension, Br...	ORPHA:94093
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Failure to thrive, Toe syndactyly, Arachnodactyly, Eczema, Small for gestational a...	ORPHA:464306
Cerebrocostomandibular Syndrome	Short stature, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Tracheomalacia, Intrauterine g...	ORPHA:1393
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Ventricular septal defect, Dextrocardia, Coronary artery fistula, Abnormal car...	OMIM:614294
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Edema, Normochromic anemia, Anasarca, Pleural effusion, Thrombocytopenia	OMIM:254900
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Mosaic Trisomy 16	Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Abnormal lung mor...	ORPHA:1708
Radio-Tartaglia Syndrome	Brachydactyly, Ventricular septal defect, Tapered finger	OMIM:619312
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect	ORPHA:93267
Chromosome 6Pter-P24 Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Atrial septal defect, Tetral...	OMIM:612582
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Carious teeth, Scapular winging, Dental malocclusion	OMIM:615560
Primary Hepatic Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy, Right ventricular failure, Heart murmur, Weight loss, Neop...	ORPHA:100085
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:276621
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Microcytic anemia, Flexion contracture, Bone pain, Increased circulating...	OMIM:256040
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko...	ORPHA:293173
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Polyhydramnios, Patent ductus arteri...	OMIM:609942
Transketolase Deficiency	Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he...	ORPHA:488618
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ventricular septal defect, Pulmonary artery stenosis, Bilateral lung agenesis, Pulmonary hypoplas...	OMIM:611812
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Failure to thrive, Ventricular septal defect, Cachexia	ORPHA:217346
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal form of the vertebral bodies,...	ORPHA:818
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, Severe failure to thrive, HbH hemoglobin	ORPHA:423479
Ogden Syndrome	Cardiogenic shock, Pulmonary artery stenosis, Ventricular septal defect, Arrhythmia	ORPHA:276432
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, B lymphocytopenia, Rectal ...	OMIM:601495
17Q11 Microdeletion Syndrome	Osteopenia, Short stature, Rhabdomyosarcoma, Kyphosis, Osteoporosis, Osteolysis, Abnormality of t...	ORPHA:97685
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:612462
Dent Disease	Enlargement of the ankles, Recurrent fractures, Osteomalacia, Enlargement of the wrists, Delayed ...	ORPHA:1652
Craniosynostosis 2	Triphalangeal thumb, Brachydactyly	OMIM:604757
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Witteveen-Kolk Syndrome	Branchial fistula, Toe syndactyly, Overlapping toe, Decreased response to growth hormone stimulat...	OMIM:613406
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short foot, Large hands, Talipes equinovarus, Cubitus valgus, Short distal phalanx of finger, Bra...	OMIM:300534
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Joint contracture, Akinesia	OMIM:225790
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Osteopo...	ORPHA:79277
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Atrial septal defect, Failure to thrive, Ventricular septal defect, Decreased body weight	OMIM:617452
Somatomammotropinoma	Mandibular prognathia, Broad jaw, Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormality of the...	ORPHA:314769
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Leukopeni...	ORPHA:797
Inflammatory Bowel Disease 11	Hematochezia, Weight loss	OMIM:191390
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Hearing impairment, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidias...	OMIM:158310
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
Holoprosencephaly 9	Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Cryptorc...	OMIM:610829
Autosomal Dominant Hyper-Ige Syndrome	Osteomyelitis, Skin rash, Eczema, Eosinophilia, Cough, Chronic otitis media	ORPHA:2314
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Abnormal heart valve morphology, Pneumonia, Lymphaden...	ORPHA:31204
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Atrial septal defect, Ventricular septal defect, Brachydactyly	ORPHA:457193
Costello Syndrome	Ventricular septal defect, Failure to thrive in infancy, Polyhydramnios, Mitral valve prolapse, P...	ORPHA:3071
Graves Disease, Susceptibility To, 1	Congestive heart failure, Weight loss	OMIM:275000
Rat-Bite Fever	Pericarditis, Myocarditis, Lymphadenitis, Endocarditis, Weight loss, Anemia	ORPHA:31205
Craniofacial Microsomia 1	Block vertebrae, Hypoplasia of facial musculature, Micrognathia, Hypoplasia of the maxilla, Cleft...	OMIM:164210
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity	OMIM:620133
Mullegama-Klein-Martinez Syndrome	Sensorineural hearing impairment, Absent stapes, Microtia, Polydactyly, Atresia of the external a...	OMIM:301022
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Aortopulmonary collateral arteries, Polyhydramnios, Aortopulmonary win...	OMIM:620025
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Flexion contracture, Elevated circulating creatine kinase concentra...	OMIM:253800
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Short stature, Neonatal alloimmune thrombocytopenia, Hepat...	ORPHA:51
Craniofacial Dyssynostosis With Short Stature	Patent ductus arteriosus, Ventricular septal defect	OMIM:218350
Riboflavin Transporter Deficiency	Hypertension, Cachexia	ORPHA:97229
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Tracheomalacia, Metatarsus adductus, Osteopathia striata, Abnormal Eustachian tube morphology, Hi...	ORPHA:513456
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Postaxial foot po...	OMIM:620107
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Lymphadenopathy, Subconjun...	ORPHA:509
Delpire-Mcneill Syndrome	Ventricular septal defect	OMIM:619083
Desbuquois Syndrome	Ventricular septal defect	ORPHA:1425
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Posteriorly rotated ears, Single transverse...	OMIM:607932
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hematochezia, Cachexia, Xerostomia, Anemia	OMIM:175500
Autoimmune Pulmonary Alveolar Proteinosis	Foam cells, Crazy paving pattern, Intraalveolar phospholipid accumulation, Weight loss	ORPHA:747
Shwachman-Diamond Syndrome 2	Normocytic anemia, Short stature, High palate, Neutropenia, Failure to thrive, Thrombocytopenia, ...	OMIM:617941
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Ventricular septal defect, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary l...	ORPHA:1655
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Complete atrioventricular canal defect, Preaxial polydactyly, Hypoplastic ...	OMIM:617925
Trisomy 1Q	Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Patent ductus arteriosu...	ORPHA:261344
Kleefstra Syndrome	Recurrent respiratory infections, Ventricular septal defect, Bicuspid aortic valve, Pulmonary art...	ORPHA:261494
Kleefstra Syndrome 1	Talipes equinovarus, Single transverse palmar crease, Conotruncal defect, Brachydactyly	OMIM:610253
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:614162
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Acromegaly	Mandibular prognathia, Broad jaw, Hypogonadotropic hypogonadism, Dysmenorrhea, Abnormality of the...	ORPHA:963
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Thyroid lymph...	OMIM:235510
Severe X-Linked Intellectual Disability, Gustavson Type	Small for gestational age, Recurrent upper respiratory tract infections, Ventricular septal defect	ORPHA:3078
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Ventricular septal defect, Small for gestational age, Patent ductus arteriosus, Coronary artery f...	OMIM:620024
Liver Disease, Severe Congenital	Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomegaly, Splenomegaly, Dilata...	OMIM:619991
Osteosarcoma	Joint swelling, Weight loss	ORPHA:668
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo...	OMIM:610978
Kinsship Syndrome	Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Lo...	OMIM:619297
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Lysinuric Protein Intolerance	Osteopenia, Delayed skeletal maturation, Osteoporosis, Hepatosplenomegaly, Anemia, Leukopenia, De...	ORPHA:470
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Weight loss	ORPHA:2221
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Bronchitis, Intraventricular...	ORPHA:420741
Ventriculomegaly With Cystic Kidney Disease	Ventricular septal defect, Postaxial polydactyly	OMIM:219730
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Atrial septal defect, Failure to thrive, Ventricular septal defect, Decreased body weight	ORPHA:505237
Müllerian Aplasia And Hyperandrogenism	Cubitus valgus, Brachydactyly	ORPHA:247768
Rin2 Syndrome	Brachydactyly	ORPHA:217335
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Eosinophilia, Vertigo, Hep...	ORPHA:199299
Warsaw Breakage Syndrome	Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Anaplastic Thyroid Carcinoma	Neoplasm of the lung, Lymphadenopathy, Weight loss	ORPHA:142
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Spinocerebellar Ataxia 48	Cachexia	OMIM:618093
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Alagille Syndrome	Telangiectasia of the skin, Ventricular septal defect, Hypertension, Atrial septal defect, Failur...	ORPHA:52
Cat Eye Syndrome	Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Total anomalous pulm...	OMIM:115470
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, Pulmonary artery atresia, Patent foramen ova...	OMIM:620113
Teebi Hypertelorism Syndrome 1	Atrial septal defect, Aortic root aneurysm, Ventricular septal defect, Pulmonary hypoplasia	OMIM:145420
Oculoauriculofrontonasal Syndrome	Ventricular septal defect	ORPHA:398156
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Tapered finger	OMIM:619680
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Mild postnatal growth retardation, Carious teeth, Splenomegaly, Kyphosis...	ORPHA:90324
Cushing Syndrome Due To Ectopic Acth Secretion	Intra-oral hyperpigmentation, Leukocytosis, Osteoporosis, Increased body weight, Secondary amenor...	ORPHA:99889
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Rett Syndrome, Congenital Variant	Kyphosis, Thin upper lip vermilion, Scoliosis	OMIM:613454
Pallister-Killian Syndrome	Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Short ne...	OMIM:601803
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Splenomegaly, Congestive ...	ORPHA:171
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect	OMIM:615879
Woods Syndrome	Ventricular septal defect	OMIM:615236
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Myocardial infarction, Leukocytosis, Schistocytosis, Dehydration, Hypertension, ...	ORPHA:90038
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath...	OMIM:614921
Huntington Disease	Decreased body mass index, Weight loss	ORPHA:399
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Splenomegaly, Leukopenia, Failure t...	OMIM:300972
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Short palm	ORPHA:3217
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Polyhydramnios, Cachexia	OMIM:618186
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Failure to thrive, Hypoasparaginemia	OMIM:615574
Neurofibromatosis Type 1	Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Cryptorchidism, Chronic myelogenou...	ORPHA:636
Chronic Visceral Acid Sphingomyelinase Deficiency	Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnorm...	ORPHA:77293
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Premature ovarian insufficiency, Short stature, Dysgammaglobulinemia...	OMIM:251260
Insulin-Resistance Syndrome Type B	Abnormality of body weight, Increased circulating IgA level, Osteoarthritis, Increased body weigh...	ORPHA:2298
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology	ORPHA:369891
Rift Valley Fever	Back pain, Anemia, Increased circulating IgG level, Increased circulating IgM level, Gingival ble...	ORPHA:319251
Pyomyositis	Recurrent cutaneous abscess formation, Leukocytosis, Sudden cardiac death, Weight loss	ORPHA:764
Ellis Van Creveld Syndrome	Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,...	ORPHA:289
Acromelic Frontonasal Dysostosis	Syndactyly, Cryptorchidism, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia,...	OMIM:603671
Khan-Khan-Katsanis Syndrome	Lymphopenia, Postaxial polydactyly, Sensorineural hearing impairment, Neutropenia, Clinodactyly, ...	OMIM:618460
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Short philtrum, High palate, Microdontia, Spina b...	OMIM:135900
Malt Lymphoma	Recurrent respiratory infections, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Anemia	ORPHA:52417
Ring Chromosome 7 Syndrome	Mandibular prognathia, Short stature, Prominent crus of helix, Narrow mouth, Cleft palate, Genu v...	ORPHA:1449
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept...	ORPHA:2519
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Pneu...	ORPHA:37042
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip, Dental malo...	OMIM:603457
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Weight loss	OMIM:188580
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Lymphadenitis, Abnormal lung morphology, Pedal edema, Weight loss, Ly...	ORPHA:449395
1P36 Deletion Syndrome	Short stature, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, Cry...	ORPHA:1606
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Cachexia, Lymphedema, Telangiectasia, Intracranial hemorrhage, Arteriovenous mal...	ORPHA:109
Radio-Renal Syndrome	Micromelia, Hypoplasia of the radius, Abnormality of the elbow, Short palm, Brachydactyly	ORPHA:3015
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect	OMIM:608572
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort...	OMIM:600460
Doors Syndrome	Thrombocytosis, Double outlet right ventricle, Polyhydramnios, Aspiration pneumonia	ORPHA:79500
Osteootohepatoenteric Syndrome	Dehydration, Failure to thrive, Anemia, Weight loss	OMIM:619377
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia	ORPHA:79255
Christianson Syndrome	Cachexia	ORPHA:85278
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Caroli Disease	Liver abscess, Portal hypertension, Splenomegaly, Leukocytosis, Weight loss, Ascites	ORPHA:53035
Ververi-Brady Syndrome	Transposition of the great arteries	OMIM:617982
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Multiple pulmonary cysts, Ventricular septal defect, Failure to thrive in infan...	OMIM:619418
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Cachexia	OMIM:616801
Brain-Lung-Thyroid Syndrome	Recurrent respiratory infections, Ventricular septal defect, Recurrent pneumonia, Abnormal pulmon...	ORPHA:209905
Senior-Loken Syndrome 8	Polydactyly	OMIM:616307
Isolated Permanent Neonatal Diabetes Mellitus	Hypovolemia, Dehydration, Weight loss, Abnormal heart morphology, Failure to thrive	ORPHA:99885
Orofaciodigital Syndrome Type 1	Finger syndactyly, Tarsal synostosis, Preaxial hand polydactyly, Short toe, Postaxial hand polyda...	ORPHA:2750
Thauvin-Robinet-Faivre Syndrome	Transient neutropenia, Ventricular septal defect, Large for gestational age, Pedal edema, Mitral ...	OMIM:617107
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Cachexia	ORPHA:1876
Prader-Willi Syndrome Due To Translocation	Overlapping toe, Small hand, Abnormal heart morphology, Short foot, Bilateral talipes equinovarus...	ORPHA:177907
Infantile Systemic Hyalinosis	Brachydactyly, Camptodactyly of finger, Micromelia, Short palm	ORPHA:2176
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Short clavicles, Steep acetabular roof, Incomplete ossifi...	ORPHA:313855
Carey-Fineman-Ziter Syndrome	Brachydactyly, Aplasia of the pectoralis major muscle, Talipes equinovarus, Ulnar deviation of fi...	ORPHA:1358
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Palmoplantar hyperkeratosis, Tibial bowing, Short foot, Slender long bone, Osteoly...	OMIM:601812
Down Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Sandal gap, Bilateral single transverse palmar cre...	ORPHA:870
Cap Polyposis	Hematochezia, Weight loss	ORPHA:160148
X-Linked Lissencephaly With Abnormal Genitalia	Patent ductus arteriosus, Ventricular septal defect	ORPHA:452
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:220500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Sacral dimple, Small for gestational age, Failure to thrive in infancy, Short stature, Cleft soft...	ORPHA:268261
Insulin-Like Growth Factor I, Resistance To	Ventricular septal defect, Truncal obesity, Decreased body weight, Atrial septal defect, Patent f...	OMIM:270450
Raine Syndrome	Death in infancy, Bowing of the long bones, Micromelia, Neonatal death, Long hallux, Brachydactyly	OMIM:259775
Neurocardiofaciodigital Syndrome	Syndactyly, Small for gestational age, Polydactyly, Failure to thrive, Hearing impairment	OMIM:619869
Lambotte Syndrome	Ventricular septal defect	OMIM:245552
Char Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:46627
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Weight loss, Palpitations, Positive regitine block...	ORPHA:29072
Donnai-Barrow Syndrome	Ventricular septal defect	ORPHA:2143
Mosaic Trisomy 1	Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Coarctation of aorta, P...	ORPHA:1692
Reactive Arthritis	Aortic regurgitation, Pericarditis, Abnormal pleura morphology, Weight loss, Joint swelling, Pulm...	ORPHA:29207
Tetraamelia Syndrome 2	Bilateral lung agenesis, Ventricular septal defect, Hypoplastic pulmonary veins	OMIM:618021
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Failure to thrive, Ventricular septal defect, Right ventricular hypertrophy	OMIM:613404
Peripheral Primitive Neuroectodermal Tumor	Ascites, Anemia, Weight loss	ORPHA:370348
Medullary Thyroid Carcinoma	Neoplasm of the lung, Lymphadenopathy, Weight loss	ORPHA:1332
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Short Stature And Facioauriculothoracic Malformations	Ventricular septal defect	OMIM:609654
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl...	ORPHA:274
Joubert Syndrome 14	Low-set ears, Posteriorly rotated ears, Postaxial polydactyly	OMIM:614424
Craniofrontonasal Syndrome	Toe syndactyly, Broad hallux, Down-sloping shoulders, Clinodactyly of the 5th finger, Congenital ...	OMIM:304110
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Craniosynostos...	ORPHA:821
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Bronchiectasis, Mitral...	OMIM:123700
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Weight loss, Pleural effusion, Anemia	ORPHA:29073
Ritscher-Schinzel Syndrome 2	Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d...	OMIM:300963
White-Sutton Syndrome	Atrial septal defect, Patent foramen ovale, Broad thumb, Brachydactyly	OMIM:616364
Chromosome 9P Deletion Syndrome	Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep...	OMIM:158170
Short Syndrome	Brachydactyly, Short palm	ORPHA:3163
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Coarctation of a...	OMIM:264480
Esophageal Atresia	Recurrent respiratory infections, Small for gestational age, Ventricular septal defect, Failure t...	ORPHA:1199
Recombinant 8 Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def...	ORPHA:96167
Renpenning Syndrome	Cachexia	ORPHA:3242
Short Stature-Micrognathia Syndrome	Failure to thrive, Ventricular septal defect, Decreased body weight	OMIM:617164
Yunis-Varon Syndrome	Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Micrognathia, Short philtru...	OMIM:216340
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Dilation of Virchow-Robin spaces, Ventricular septal defect, Polyhydramnios, Pulmonary artery ste...	OMIM:300998
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Severe short stature, Camptodactyly of finger, Abnormal dental enamel morphology, Kyphosis, Delay...	ORPHA:2273
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Camptodactyly, Brachydactyly	OMIM:601353
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome...	ORPHA:740
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Brachydactyly	OMIM:608624
Familial Glucocorticoid Deficiency	Hypertrophic cardiomyopathy, Failure to thrive, Hypotension, Weight loss	ORPHA:361
Caroli Syndrome	Liver abscess, Portal hypertension, Hypersplenism, Hematemesis, Leukocytosis, Melena, Leukopenia,...	ORPHA:480520
Iga Pemphigus	Neutrophilic infiltration of the skin, Eosinophilia, Pustule, Ulcerative colitis, Cutaneous abscess	ORPHA:555905
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Mitral stenosis, Oligohyd...	ORPHA:96201
Trisomy 8Q	Deep palmar crease, Camptodactyly of finger, Brachydactyly	ORPHA:1752
Postinfectious Vasculitis	Cerebral vasculitis, Pneumonia, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension, Is...	ORPHA:48435
Lynch Syndrome	Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum	ORPHA:144
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, High, narrow palate, Abnormal curvature of the vertebral column, Short philtrum, High ...	OMIM:619475
Pontocerebellar Hypoplasia, Type 8	Ventricular septal defect, Patent foramen ovale	OMIM:614961
Retinitis Pigmentosa 74	Polydactyly	OMIM:616562
Inflammatory Bowel Disease (Crohn Disease) 1	Weight loss	OMIM:266600
Cranioectodermal Dysplasia 2	Syndactyly, Rhizomelia, Cholangitis, Simple ear, Splenomegaly, Postaxial hand polydactyly, Recurr...	OMIM:613610
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Small for gestational a...	OMIM:614866
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Abnormal heart morphology	ORPHA:494344
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect	OMIM:618504
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Focal Myositis	Weight loss	ORPHA:48918
Incontinentia Pigmenti	Finger syndactyly, Skin rash, Camptodactyly of finger, Eosinophilia, Keratitis, Abnormal hand mor...	ORPHA:464
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Polyhydramnios, Cachexia	ORPHA:2774
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Brachydactyly	OMIM:620156
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Pneumothorax, Elbow flexion contracture, Osteolytic defects of the phal...	OMIM:618175
Neurodevelopmental Disorder With Language Delay And Seizures	Ventricular septal defect	OMIM:619908
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Weight loss, Cardiac diverticulum	ORPHA:440437
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Ventricular septal defect, Polyhydramnios, Hypoplasia of the thymus,...	ORPHA:436252
Orofaciodigital Syndrome I	Syndactyly, Abnormal heart morphology, Short 2nd toe, Polydactyly, Radial deviation of finger, Cl...	OMIM:311200
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Sandal gap, Single transverse palmar crease, Broad 2nd...	OMIM:601358
Adams-Oliver Syndrome 1	Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Hypoplastic left heart, Talipes...	OMIM:100300
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Ventricular septal defect	OMIM:601357
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Encephalocraniocutaneous Lipomatosis	Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula...	OMIM:613001
Sotos Syndrome	Ventricular septal defect, Muscular ventricular septal defect, Patent ductus arteriosus, Increase...	OMIM:117550
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Patent ductus arteriosus, Recurrent pneumonia, Ventricular septal defect, Recurrent aspiration pn...	OMIM:300472
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Failure to thrive, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Distal Deletion 9P	Brachydactyly	ORPHA:1642
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness	ORPHA:171629
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Weight loss	OMIM:613239
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Mixed hearing impairment, Broad hallux, Absent radius, Short thumb, Parti...	OMIM:149730
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Weight loss, Lymphadenopathy, Joint swelling, Hepatosplenomegaly, Anemia	ORPHA:85408
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, Short long bone, Short ...	OMIM:617088
Infantile Krabbe Disease	Abnormal heart rate variability, Cherry red spot of the macula, Failure to thrive, Cachexia	ORPHA:206436
Goodpasture Syndrome	Weight loss, Anemia, Increased blood urea nitrogen	OMIM:233450
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Glucose-Galactose Malabsorption	Failure to thrive, Dehydration, Weight loss	ORPHA:35710
Okur-Chung Neurodevelopmental Syndrome	Broad hallux, Single transverse palmar crease, Abnormal heart morphology, Clinodactyly of the 5th...	OMIM:617062
Sporadic Infantile Bilateral Striatal Necrosis	Hypomimic face, Abnormal posturing, Titubation	ORPHA:225147
Thoracoabdominal Syndrome	Patent ductus arteriosus, Ectopia cordis, Pulmonary hypoplasia, Transposition of the great arteries	OMIM:313850
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect	OMIM:309520
Den Hoed-De Boer-Voisin Syndrome	Ventricular septal defect, Overweight, Obesity, Decreased body weight, Recurrent lower respirator...	OMIM:619229
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Recurrent respiratory infections, Ventricular septal defect, Overweight, Hematochezia, Failure to...	OMIM:619575
Macs Syndrome	Single transverse palmar crease, Brachydactyly	OMIM:613075
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Short metatarsal, Short 3rd metacarpal, Broad distal ph...	ORPHA:79444
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat...	OMIM:618748
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Death in infancy, Talipes equinovarus, Brachydactyly	ORPHA:847
Leigh Syndrome	Ventricular septal defect, Congestive heart failure, Neutropenia, Hypertrophic cardiomyopathy, Fa...	ORPHA:506
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Spontaneous pneumothorax, Portal hypertension, Hypersplenism, Spleno...	ORPHA:731
O'Sullivan-Mcleod Syndrome	Eosinophilia, Intrinsic hand muscle atrophy, Hand muscle weakness	ORPHA:99965
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:52055
Legius Syndrome	Acute monocytic leukemia, Diaphyseal dysplasia, Vestibular schwannoma, Polydactyly, Clinodactyly ...	ORPHA:137605
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Obesity, Ventri...	OMIM:614947
Renal Agenesis	Hypertension, Ventricular septal defect, Pulmonary hypoplasia, Oligohydramnios	ORPHA:411709
Toriello-Carey Syndrome	Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis, Clinodactyly, Tetralogy of...	ORPHA:3338
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Congenital Tufting Enteropathy	Failure to thrive, Dehydration, Weight loss	ORPHA:92050
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:617360
Cooper-Jabs Syndrome	Ventricular septal defect	ORPHA:1488
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cntnap2-Related Developmental And Epileptic Encephalopathy	Preaxial polydactyly, Obesity, Intermittent hyperventilation	ORPHA:163681
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proportionate shortening of all digits, Tapered finger, Patent foramen ovale, Small hand, Short f...	ORPHA:280633
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Osteomyelitis, Short stature, Sinusitis, Severe periodontitis, Abnormalit...	ORPHA:2968
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyly, Atrial septal defect	OMIM:616546
Systemic Lupus Erythematosus	Hemolytic anemia, Raynaud phenomenon, Lymphadenopathy, Leukopenia, Hypertension, Thrombocytopenia	ORPHA:536
Benign Recurrent Intrahepatic Cholestasis	Weight loss	ORPHA:65682
Cerebrooculonasal Syndrome	Posteriorly rotated ears, Postaxial polydactyly, Postaxial hand polydactyly, Low-set ears, Conduc...	OMIM:605627
Alg9-Cdg	Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal lung lobation,...	ORPHA:79328
Robinow Syndrome, Autosomal Dominant 1	Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Small hand, Mesomel...	OMIM:180700
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect...	ORPHA:457279
Stromme Syndrome	Stillbirth, Preaxial polydactyly	OMIM:243605
Pemphigus Vulgaris	Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Chime Syndrome	Ventricular septal defect, Tetralogy of Fallot, Acute leukemia, Transposition of the great arteri...	ORPHA:3474
C Syndrome	Patent ductus arteriosus, Failure to thrive, Ventricular septal defect	OMIM:211750
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Pallister-Hall Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal lung lobation, Preductal coarctatio...	OMIM:146510
Aase-Smith Syndrome I	Ventricular septal defect	OMIM:147800
Pallister-Hall Syndrome	Large for gestational age, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Radial bowin...	ORPHA:672
Fraser Syndrome 1	Dental crowding, Cleft upper lip, Cryptorchidism, Dental malocclusion, Cleft palate, Difficulty i...	OMIM:219000
Adrenocortical Carcinoma	Increased body weight, Weight loss, Hypertension, Palpitations, Lung adenocarcinoma	ORPHA:1501
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia	ORPHA:371364
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Patent ductus arteriosus, Ventricular septal defect	ORPHA:77298
Trichohepatoneurodevelopmental Syndrome	Ventricular septal defect, Polyhydramnios, Splenomegaly, Patent ductus arteriosus, Decreased body...	OMIM:618268
Kapur-Toriello Syndrome	Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect	OMIM:244300
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Ventricular septal defect	OMIM:616901
Bohring-Opitz Syndrome	Atrial septal defect, Failure to thrive, Ventricular septal defect, Polyhydramnios	OMIM:605039
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Large for gestational age,...	ORPHA:500095
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Hydrops fetalis, Coarctation of aorta	ORPHA:268249
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1974
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Tapered finger, Short thumb, Clinodactyly of the 5th finger, Patent foramen ovale, Brachydactyly	ORPHA:477993
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Arboleda-Tham Syndrome	Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, Ventricular septal defect, Secu...	OMIM:616268
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Exaggerated startle response, Broad-based gait, Decreased serum iron, Inability to wa...	ORPHA:438213
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Facial edema, Xerostomia, Weight loss, Lymphadenopathy, Thrombocytopenia	ORPHA:79078
Opitz Gbbb Syndrome	Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s...	ORPHA:2745
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Tapered finger, Abnormal toe morphology, Abnor...	DECIPHER:81
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Atrial septal defect, Ventricular septal defect, Short toe, Clinodactyly of th...	ORPHA:1519
Ring Chromosome 10 Syndrome	Cachexia	ORPHA:1438
Tetrasomy 12P	Cachexia	ORPHA:884
Meckel Syndrome, Type 1	Accessory spleen, Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polyda...	OMIM:249000
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Patent ductus arteriosus, Ventricular septal defect	OMIM:106260
Filippi Syndrome	Ventricular septal defect	ORPHA:3255
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Large for gestational age, Pulmo...	OMIM:607721
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Brachydactyly	OMIM:619479
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Edema, Weight loss	ORPHA:309031
Bullous Pemphigoid	Weight loss	ORPHA:703
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weight loss, Mitral regurgitation, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:607459
Autosomal Dominant Robinow Syndrome	Finger syndactyly, Camptodactyly of finger, Micromelia, Coxa valga, Elbow dislocation, Avascular ...	ORPHA:3107
Kaufman Oculocerebrofacial Syndrome	Atrial septal defect, Failure to thrive, Ventricular septal defect, Coarctation of aorta	OMIM:244450
Yellow Fever	Shock, Neutrophilia, Supraventricular arrhythmia, Hematemesis, Leukocytosis, Capillary leak, Redu...	ORPHA:99829
Peritoneal Cystic Mesothelioma	Weight loss	ORPHA:168816
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Rabson-Mendenhall Syndrome	Atrial septal defect, Cardiomyopathy, Ventricular septal defect, Polydactyly	ORPHA:769
Loeys-Dietz Syndrome 2	Syndactyly, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Bicuspid aortic valve, Bi...	OMIM:610168
Culler-Jones Syndrome	Postaxial polydactyly	OMIM:615849
Zellweger Syndrome	Failure to thrive, Ventricular septal defect	ORPHA:912
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Pulmonary hypoplasia	OMIM:612530
Solitary Fibrous Tumor	Neoplasm of the lung, Neoplasia of the pleura, Weight loss	ORPHA:2126
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia	ORPHA:1933
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Accessory spleen, Ventricular septal defect	OMIM:619306
Trichothiodystrophy	Ventricular septal defect, Recurrent bronchopulmonary infections, Increased mean corpuscular hemo...	ORPHA:33364
Fryns Syndrome	Ventricular septal defect, Polyhydramnios, Large for gestational age, Stillbirth, Chylothorax, Po...	OMIM:229850
Meckel Syndrome, Type 4	Atrial septal defect, Ventricular septal defect	OMIM:611134
Roberts-Sc Phocomelia Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Atrial septal defect, Ventricular septal defec...	OMIM:268300
Familial Pancreatic Carcinoma	Weight loss, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, Br...	ORPHA:364577
Alport Syndrome 1, X-Linked	Hypertension, Thrombocytopenia	OMIM:301050
Chromosome 14Q11-Q22 Deletion Syndrome	Patent ductus arteriosus, Ventricular septal defect, Failure to thrive, Patent foramen ovale	OMIM:613457
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Failure to thrive, Ventricular septal defect, Pulmonary hypoplasia	OMIM:214100
Meester-Loeys Syndrome	Arachnodactyly, Mitral valve prolapse, Broad distal phalanx of finger, Camptodactyly, Brachydactyly	OMIM:300989
Trisomy 18	Atrial septal defect, Ventricular septal defect, Cachexia, Oligohydramnios	ORPHA:3380
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Cerebral edema, Intracranial hemorrhage, Hypotension, Thrombo...	ORPHA:90062
Vipoma	Dehydration, Weight loss, Hematochezia, Normochromic anemia, Ascites	ORPHA:97282
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Recurrent respiratory infections, Ventricular septal defect, Polyhydramnios, Patent ductus arteri...	ORPHA:3047
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Ventricular septal defect, Dysplastic pulmonary valve	OMIM:619103
African Trypanosomiasis	Akinesia, Tremor, Splenomegaly, Hepatosplenomegaly, Choreoathetosis, Weight loss, Gait disturbanc...	ORPHA:3385
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Tetralogy of Fa...	ORPHA:306542
Developmental Delay With Or Without Dysmorphic Facies And Autism	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonary arterial hyp...	OMIM:618454
Alagille Syndrome 1	Failure to thrive, Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis...	OMIM:118450
Focal Dermal Hypoplasia	Telangiectasia of the skin, Ventricular septal defect, Patent ductus arteriosus, Aplasia/Hypoplas...	ORPHA:2092
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Bilateral camptodactyly, Elbow flexion contracture, Small hand, ...	OMIM:619777
Coffin-Siris Syndrome 4	Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:614609
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss, Hyperte...	ORPHA:91347
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr...	OMIM:617063
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Short palm	ORPHA:3339
Ayme-Gripp Syndrome	Pericarditis, Tapered finger, Radioulnar synostosis, Camptodactyly, Brachydactyly	OMIM:601088
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly	ORPHA:1587
Coffin-Siris Syndrome	Ventricular septal defect, Patent ductus arteriosus, Recurrent upper respiratory tract infections...	ORPHA:1465
Glucagonoma	Gastrointestinal hemorrhage, Acanthocytosis, Weight loss, Normochromic anemia, Ascites	ORPHA:97280
Somatostatinoma	Gastrointestinal hemorrhage, Ascites, Hypochromic microcytic anemia, Weight loss	ORPHA:97283
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis	OMIM:619482
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia	OMIM:614653
Vater/Vacterl Association	Syndactyly, Ventricular septal defect, Absent radius, Short thumb, Hypoplasia of the radius, Prea...	OMIM:192350
Paternal Uniparental Disomy Of Chromosome 6	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Dehydration, Oligohydramnios	ORPHA:96191
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Arteriosclerosis, Cachexia	ORPHA:220295
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Weight loss	OMIM:164310
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Stillbirth, Transposition of...	OMIM:256520
Xfe Progeroid Syndrome	Hypertension, Failure to thrive, Cachexia, Ascites	OMIM:610965
Mandibulofacial Dysostosis, Guion-Almeida Type	Atrial septal defect, Ventricular septal defect	OMIM:610536
3Q29 Microduplication Syndrome	Ventricular septal defect, Obesity	ORPHA:251038
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Tapered finger, Small hand, Short foot, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:309590
Noonan Syndrome	Clinodactyly of the 5th finger, Radioulnar synostosis, Abnormal pulmonary valve morphology, Brach...	ORPHA:648
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Dyspnea, Lymphadenitis, Nephritis, Pancreatitis, Parotitis	ORPHA:449427
Oromandibular Dystonia	Weight loss	ORPHA:93958
Trichothiodystrophy 4, Nonphotosensitive	Ventricular septal defect	OMIM:234050
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti...	ORPHA:79102
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f...	ORPHA:3472
Gallbladder Neuroendocrine Tumor	Ascites, Chronic noninfectious lymphadenopathy, Weight loss	ORPHA:100086
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Weight loss, Aspiration pneumo...	ORPHA:1018
Addison Disease	Normocytic anemia, Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Weight loss...	ORPHA:85138
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hallux valgus, Low-set, posteriorly rotated ears, Respiratory distress, Congenital hip dislocatio...	ORPHA:480880
Fatal Familial Insomnia	Weight loss	OMIM:600072
Inflammatory Pseudotumor Of The Liver	Weight loss	ORPHA:90003
Klatskin Tumor	Lymphadenopathy, Weight loss	ORPHA:99978
Costello Syndrome	Ventricular septal defect, Polyhydramnios, Pneumothorax, Mitral valve prolapse, Pulmonic stenosis...	OMIM:218040
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su...	OMIM:619268
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect, Obesity	ORPHA:3138
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Atrial septal defect, Bicuspid aortic valve, Camptodactyly of finge...	OMIM:607872
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Abnormal lung lobation, Coarct...	OMIM:270400
Silver-Russell Syndrome	Failure to thrive in infancy, Obesity, Cachexia	ORPHA:813
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Clinodactyly of the 5th finger, Hip dysplasia, Broad hallux, Postaxial polydactyly	ORPHA:457284
Peters-Plus Syndrome	Syndactyly, Short metacarpal, Atrial septal defect, Rhizomelia, Single transverse palmar crease, ...	OMIM:261540
Donnai-Barrow Syndrome	Ventricular septal defect	OMIM:222448
Okamoto Syndrome	Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor...	ORPHA:2729
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Brachydactyly, Single transverse palmar crease, Short palm	ORPHA:466943
Codas Syndrome	Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios	OMIM:600373
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musculature	ORPHA:1521
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:97286
Hereditary Cryohydrocytosis With Reduced Stomatin	Brachydactyly	ORPHA:168577
Alström Syndrome	Thoracic scoliosis, Abnormality of dental color, Accelerated skeletal maturation, Hypoplasia of t...	ORPHA:64
Tbck-Related Intellectual Disability Syndrome	Ventricular septal defect, Pulmonic stenosis, Oligohydramnios	ORPHA:488632
Van Esch-O'Driscoll Syndrome	Atrial septal defect, Pulmonary artery stenosis, Pulmonary valve atresia, Ventricular septal defect	OMIM:301030
16P13.11 Microdeletion Syndrome	Atrial septal defect, Ventricular septal defect	ORPHA:261236
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defe...	OMIM:236680
Keutel Syndrome	Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypoplasia, Pulmo...	OMIM:245150
Chronic Graft Versus Host Disease	Pancytopenia, Pneumothorax, Xerostomia, Bronchiectasis, Weight loss, Bronchiolitis obliterans, Pl...	ORPHA:99921
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Pneumonia, Absent circulating B cells	OMIM:307200
Distal Deletion 19P	Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:96129
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Ventricular septal defect, Patellar aplasia, Inferio...	OMIM:606170
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Juvenile Amyotrophic Lateral Sclerosis	Cachexia	ORPHA:300605
Diets-Jongmans Syndrome	Interrupted inferior vena cava with azygous continuation, Ventricular septal defect, Polyhydramnios	OMIM:618846
Tetrasomy 9P	Pericarditis, Juxtaductal coarctation of the aorta, Dextrocardia, Raynaud phenomenon, Abnormal ca...	ORPHA:3310
Acrodermatitis Enteropathica	Failure to thrive, Weight loss	ORPHA:37
Hand-Foot-Genital Syndrome	Ventricular septal defect	ORPHA:2438
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect	OMIM:617798
X-Linked Creatine Transporter Deficiency	Cachexia	ORPHA:52503
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Micromelia, Short toe, Bicuspid pulmonary valve, Short foot, Abnormal...	ORPHA:709
Grfoma	Gastrointestinal hemorrhage, Ascites, Neoplasm of the lung, Weight loss	ORPHA:97261
Kabuki Syndrome 1	Hemolytic anemia, Ventricular septal defect, Autoimmune thrombocytopenia, Coarctation of aorta, A...	OMIM:147920
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Cachexia, Weight loss	OMIM:603041
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect	OMIM:609460
Restrictive Dermopathy	Dextrocardia, Polyhydramnios, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transpo...	ORPHA:1662
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Weight loss, Macular edema, Vitreous hemorrhage, Normochromic anemia, Reduced ...	ORPHA:91500
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Failure to thrive, Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios	OMIM:608670
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ventricular septal defect	OMIM:272950
Ppoma	Gastrointestinal hemorrhage, Ascites, Weight loss	ORPHA:97278
Choreoacanthocytosis	Acanthocytosis, Abnormal erythrocyte enzyme level, Splenomegaly, Dilated cardiomyopathy, Weight loss	ORPHA:2388
Johanson-Blizzard Syndrome	Ventricular septal defect, Small for gestational age, Portal hypertension, Situs inversus totalis...	OMIM:243800
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Short metatarsal, Cubitus valgus, Short distal phalanx of finger, Brachydactyly	OMIM:617157
Cystinosis, Nephropathic	Splenomegaly, Failure to thrive in infancy, Dehydration, Weight loss	OMIM:219800
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Ventricular septal defect, Polyhydramnios, Pulmonary artery stenosis, Dilatation of the ventricul...	ORPHA:459070
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Opitz Gbbb Syndrome	Ventricular septal defect	OMIM:300000
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:154400
Orofaciodigital Syndrome Xiv	Posteriorly rotated ears, Broad hallux, Cryptorchidism, Postaxial hand polydactyly, Preaxial poly...	OMIM:615948
Igg4-Related Ophthalmic Disease	Sinusitis, Cholangitis, Eosinophilia, Keratitis, Orchitis, Thyroiditis, Prostatitis, Pancreatitis	ORPHA:449563
Pancreatoblastoma	Abnormal lymph node morphology, Weight loss	ORPHA:677
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Hypovolemia, Dehydration, Weight loss, Hypotension, Failure to thrive	ORPHA:90794
Omodysplasia 1	Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect	OMIM:258315
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage	OMIM:616682
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect	OMIM:301044
Multiple Endocrine Neoplasia Type 1	Shortened QT interval, Hematemesis, Dehydration, Weight loss, Melena, Hypertension	ORPHA:652
Combined Pituitary Hormone Deficiencies, Genetic Forms	Hypogonadotropic hypogonadism, Polydactyly, Infertility, Abnormal digit morphology, Decreased tes...	ORPHA:95494
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Weight loss	ORPHA:913
Renpenning Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis	OMIM:309500
Primary Fanconi Renotubular Syndrome	Pulmonary fibrosis, Dehydration, Weight loss	ORPHA:3337
Mowat-Wilson Syndrome	Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste...	OMIM:235730
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Penile Agenesis	Ventricular septal defect, Bilateral lung agenesis, Pulmonary hypoplasia, Atrial septal defect, O...	ORPHA:49
Early Infantile Epileptic Encephalopathy	Failure to thrive, Ventricular septal defect	ORPHA:1934
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly, Hand oligodactyly	OMIM:207770
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Parathyroid Carcinoma	Shortened QT interval, Weight loss	ORPHA:143
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Failure to thrive, Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve mor...	ORPHA:261552
Limb Body Wall Complex	Atrial septal defect, Ectopia cordis, Ventricular septal defect, Abnormal heart morphology	ORPHA:2369
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Brachydactyly	ORPHA:293987
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Ventricular septal defect	ORPHA:1071
Seckel Syndrome	Cachexia	ORPHA:808
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522
Cornelia De Lange Syndrome	Ventricular septal defect, Increased nuchal translucency, Truncal obesity, Atrial septal defect, ...	ORPHA:199
Tropical Pancreatitis	Weight loss	ORPHA:103918
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Patent foramen ovale	OMIM:613884
Townes-Brocks Syndrome 1	Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Small for gestational age	OMIM:107480
Ulnar-Mammary Syndrome	Arrhythmia, Ventricular septal defect, Obesity	OMIM:181450
Orofaciodigital Syndrome Type 14	Patent ductus arteriosus, Ventricular septal defect	ORPHA:434179
Proboscis Lateralis	Patent ductus arteriosus, Ventricular septal defect	ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Recurrent pneumonia, Ventricular septal defect, Recurrent bronchitis	OMIM:620330
Norrie Disease	Venous insufficiency, Failure to thrive, Cachexia	ORPHA:649

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 Mecom

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 Mecom.

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

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MGI Allele	Allele Type	Produced
Mecom^em1(IMPC)J	Exon Deletion	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mecom MGI:95457

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Electroretinography 3

X-ray

X-ray

X-ray

Electrocardiogram (ECG)

Auditory Brain Stem Response

Human diseases caused by Mecom mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data