Gene Summary

Name:
MDS1 and EVI1 complex locus
Synonyms:
D630039M04Rik,  Jbo,  MDS1-EVI1,  Prdm3,  Mds1,  ZNFPR1B1,  Evi-1,  Evi1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
limb grasping MecomJbo HET Early adult 3.97×10-05
increased startle reflex MecomJbo HET Early adult 4.55×10-15
decreased lean body mass MecomJbo HET Early adult 1.77×10-05
abnormal locomotor activation MecomJbo HET Early adult 1.00×10-05
abnormal startle reflex MecomJbo HET Early adult 3.60×10-07
preweaning lethality, complete penetrance Mecomem1(IMPC)J HOM   Early adult 0.00
decreased hematocrit MecomJbo HET Early adult 2.41×10-05
decreased circulating iron level MecomJbo HET Early adult 4.97×10-05
increased total body fat amount MecomJbo HET Early adult 1.28×10-14
decreased hemoglobin content MecomJbo HET Early adult 3.12×10-12
decreased erythrocyte cell number MecomJbo HET Early adult 5.68×10-05
increased bone mineral content MecomJbo HET Early adult 6.88×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

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

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

Electrocardiogram (ECG)

Waveform Image

15 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

Electroretinography 3

Fundus file

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Forepaw

9 Images

Auditory Brain Stem Response

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

8 Images

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.

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
Cleft palate, Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly Type 2
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Deafness, Conductive, With Malformed External Ear
Conductive hearing impairment, Abnormality of the pinna, Low-set ears, Abnormality of the middle ... OMIM:221300
Gombo Syndrome
Abnormal heart morphology, Radial deviation of finger, Brachydactyly, Clinodactyly, Microcephaly OMIM:233270
Deafness, Autosomal Recessive 25
Progressive sensorineural hearing impairment, Hearing impairment OMIM:613285
Sugarman Brachydactyly
Double first metacarpals, Proximal placement of hallux, Short proximal phalanx of finger, Symphal... OMIM:272150
Brachydactyly, Type A3
Cone-shaped epiphysis, Rhomboid or triangular shaped 5th finger middle phalanx, Short middle phal... OMIM:112700
Familial Digital Arthropathy-Brachydactyly
Short middle phalanx of finger, Shortening of all middle phalanges of the toes, Osteoarthritis of... ORPHA:85169
Brachydactyly, Type A1, C
Short middle phalanx of the 3rd finger, Short middle phalanx of the 4th finger, Short middle phal... OMIM:615072
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Sensorineural hearing ... ORPHA:3216
Cleidorhizomelic Syndrome
Diaphyseal thickening, Rhizomelia, Short middle phalanx of the 5th finger, Bilateral single trans... ORPHA:1453
Brachydactyly, Type A1
Broad palm, Radial deviation of the 3rd finger, Slender metacarpals, Radial deviation of the 4th ... OMIM:112500
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Conductive hearing impairment, Abnormality of the pinna, Bilateral conductive hearing impairment,... OMIM:128980
Digital Arthropathy-Brachydactyly, Familial
Brachytelomesophalangy, Short middle phalanx of finger, Short distal phalanx of toe, Radial devia... OMIM:606835
Brachydactyly, Type D
Type D brachydactyly, Broad distal phalanx of the thumb, Broad distal phalanx of the hallux OMIM:113200
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal heart morphology, Stillbirth, Syndactyly, Upper limb phocomelia, Abnormal c... ORPHA:294975
Symphalangism With Multiple Anomalies Of Hands And Feet
Toe syndactyly, Reduced proximal interphalangeal joint space, Symphalangism of the 5th finger, Ab... ORPHA:3246
Deafness, Autosomal Recessive 20
Sensorineural hearing impairment, Hearing impairment OMIM:604060
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
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Brachydactyly, Type A2, With Microcephaly
Absent middle phalanx of 2nd finger, Clinodactyly of the 2nd toe, Type A2 brachydactyly, Thumbs h... OMIM:211369
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Long-Thumb Brachydactyly Syndrome
Long thumb, Brachydactyly, Short finger OMIM:112430
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly OMIM:176305
Thiemann Disease, Familial Form
Abnormality of epiphysis morphology, Abnormality of the metaphysis, Brachydactyly ORPHA:3314
Brachydactyly, Type A1, B
Short middle phalanx of finger, Short 5th metacarpal, Radial deviation of finger, Short distal ph... OMIM:607004
Brachydactyly, Type A4
Aplasia of the middle phalanges of the toes, Type A brachydactyly, Short middle phalanx of the 2n... OMIM:112800
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Fallot Complex With Severe Mental And Growth Retardation
Ventricular septal defect, Failure to thrive, Double outlet right ventricle, Pulmonic stenosis, T... OMIM:601127
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Spondylometaphyseal Dysplasia, East African Type
Genu varum, Metaphyseal widening, Rounded epiphyses, Coxa vara, Short long bone, Brachydactyly, M... OMIM:611702
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Liebenberg Syndrome
Metaphyseal widening, Brachydactyly, Radially deviated wrists, 2-3 finger syndactyly, Abnormality... OMIM:186550
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot OMIM:190680
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay
Type A1 brachydactyly OMIM:188201
Congenital Amegakaryocytic Thrombocytopenia
Short stature, Abnormal form of the vertebral bodies, Anemia, Abnormal hemoglobin, Thrombocytopen... ORPHA:3319
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... OMIM:611263
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Abnormal thumb morphology, Abnormality of the metacarpal bones, Type A brachydactyly ORPHA:1078
Brachydactyly, Combined B And E Types
Short 5th metacarpal, Short fifth metatarsal, Broad distal phalanx of finger, Short 4th finger, S... OMIM:112440
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Atrial septal defect, Postaxial oligodactyly, ... ORPHA:52056
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Truncus Arteriosus
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... ORPHA:3384
Arthrogryposis, Distal, Type 2B2
Metatarsus adductus, Adducted thumb, Talipes equinovarus, Tapered finger, Sandal gap, Hip disloca... OMIM:618435
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Coloboma Of Macula-Brachydactyly Type B Syndrome
Broad thumb, Type B brachydactyly, Short distal phalanx of finger, Camptodactyly of finger ORPHA:1471
Feingold Syndrome Type 2
Toe syndactyly, Ventricular septal defect, Short middle phalanx of finger, Brachydactyly, Short t... ORPHA:391646
Syndactyly, Type V
Cutaneous finger syndactyly, 4-5 toe syndactyly, Joint contracture of the hand, 3-4 toe syndactyl... OMIM:186300
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Amelogenesis Imperfecta
Widely spaced teeth, Yellow-brown discoloration of the teeth, Hypomature dental enamel, Hypocalci... ORPHA:88661
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Multiple Synostoses Syndrome
Cone-shaped epiphysis, Symphalangism affecting the phalanges of the hand, Bilateral single transv... ORPHA:3237
Pyknoachondrogenesis
Stillbirth OMIM:265880
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Syndactyly, Clinodactyly, Brac... OMIM:610140
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Interrupted aortic arch, Interrupted inferior vena cava with azygous continuation, ... OMIM:616749
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Non-Syndromic Genetic Deafness
Conductive hearing impairment, Moderate hearing impairment, High-frequency hearing impairment, Ch... ORPHA:87884
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Pulmonary hypoplasia, Asplenia, Situs inversus t... OMIM:615415
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... OMIM:610713
Deafness, X-Linked 6
Cochlear malformation, Hearing impairment OMIM:300914
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Oligohy... OMIM:601927
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short stature, Mandibular prognathia, Kyphosis, Increased circulating IgE level, Dental malocclus... ORPHA:1858
Coloboma Of Macula With Type B Brachydactyly
Bifid distal phalanx of the thumb, Broad distal phalanx of the thumb, Type B brachydactyly, Absen... OMIM:120400
Exostoses With Anetodermia And Brachydactyly, Type E
Type E brachydactyly OMIM:133690
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Eng-Strom Syndrome
Ventricular septal defect, Brachydactyly, Abnormal cardiac septum morphology, Camptodactyly of fi... ORPHA:1937
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis i... OMIM:204700
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity, Polydactyly OMIM:615988
Tarsal-Carpal Coalition Syndrome
Tarsal synostosis, Proximal symphalangism of hands, Short finger, Humeroradial synostosis, Cubitu... OMIM:186570
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Malar flattening, Short stature, Dental malocclusion OMIM:616108
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Lambert Syndrome
Ventricular septal defect, Intrauterine growth retardation, Intrahepatic biliary atresia, Branchi... ORPHA:1296
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Brachydactyly Type B2
Short distal phalanx of toe, Symphalangism affecting the phalanges of the hand, Synostosis of car... ORPHA:140908
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Heart-Hand Syndrome, Spanish Type
Short middle phalanx of finger, Ulnar deviation of the 2nd finger, Brachydactyly OMIM:140450
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Tricuspid atresia, Systol... OMIM:617478
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Bardet-Biedl Syndrome 5
Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Brachydactyly Type B
Broad hallux phalanx, Symphalangism affecting the phalanges of the hand, 2nd-5th toe middle phala... ORPHA:93383
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Epiphyseal Dysplasia, Multiple, 4
Limited elbow flexion, Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes eq... OMIM:226900
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Mesomelia, Brachydactyly, Abnormal shoulder morphology ORPHA:1277
Oligodontia
Agenesis of mandibular premolar, Oligodontia, Delayed eruption of teeth, Short dental root, Agene... ORPHA:99798
Double Outlet Right Ventricle
Ventricular septal defect, Truncus arteriosus, Failure to thrive, Double outlet right ventricle, ... ORPHA:3426
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity, Polydactyly OMIM:615989
Eosinophilia, Familial
Leukocytosis, Recurrent bronchitis, Myocardial eosinophilic infiltration, Anemia, Thrombocytopeni... OMIM:131400
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Anemia, Hepatosplenomegal... ORPHA:101028
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Abnormal bone structure, Splenomegaly ORPHA:46532
Brachydactyly-Distal Symphalangism Syndrome
Chess-pawn distal phalanges, Aplasia of the middle phalanx of the hand, Distal symphalangism of h... OMIM:113450
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Amelogenesis imperfecta, Dental malocclusion OMIM:130900
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Hypoplasia of the thymus, Cardiomegaly, Oligohydramnios, Overriding ao... OMIM:617022
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Anemia, Increased nuchal translucency, Thrombocytopenia, Hy... ORPHA:295
Mcdonough Syndrome
Abnormal palate morphology, Micrognathia, Short philtrum, Open bite, Short stature, Mandibular pr... ORPHA:2471
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Banki Syndrome
Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormality of the met... ORPHA:1228
Hypochondroplasia
Genu varum, Limited elbow extension, Abnormality of pelvic girdle bone morphology, Flared metaphy... OMIM:146000
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Pancytopenia And Occlusive Vascular Disease
Leukopenia, Anemia, Pancytopenia, Thrombocytopenia, Peripheral arterial stenosis OMIM:167850
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Sideroblastic anemia, Patent ductus arteriosus, Oligohyd... OMIM:617021
Symphalangism, Distal
Distal symphalangism of hands, Brachydactyly, Absent dorsal skin creases over affected joints, Di... OMIM:185700
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Metaphyseal widening, Metaphyseal irregularity, Brachydactyly, Metaphyseal sclerosi... OMIM:609052
Tetrasomy X
Clinodactyly of the 5th finger, Hip dysplasia, Brachydactyly, Radioulnar synostosis ORPHA:9
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Type E brachydactyly ORPHA:1962
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Abnormality of the ulna, Abnormality of the humerus, Aplasia/Hypoplasia of the radius, Synostosis... ORPHA:1275
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Short 5th metacarpal, Short finger, Short toe, Clinodactyly of the 5th fin... OMIM:604381
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Persistent left superior vena cava, Double outlet right ventricle, Patent ductus arteriosus, Pulm... ORPHA:3304
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus, Abnormal lung lobation ORPHA:2516
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Enamel hypomineralization, Anterior open-bite malocclusion, Amelogenesis imperfecta OMIM:617217
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Abnormal dental enamel morphology, Amelogenesis imperfecta OMIM:612529
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... ORPHA:2098
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Hypertension And Brachydactyly Syndrome
Short metacarpal, Short phalanx of finger, Cone-shaped epiphysis, Brachydactyly OMIM:112410
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Impaired epinephrine-induced platelet aggregation, Impaired arach... OMIM:619271
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Chromosome 15Q13.3 Deletion Syndrome
Clinodactyly of the 5th finger, Brachydactyly OMIM:612001
Anauxetic Dysplasia 1
Small epiphyses, Short finger, Rhizomelia, Delayed ossification of carpal bones, Short toe, Flare... OMIM:607095
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly OMIM:612576
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Single ventricle, Right a... OMIM:601186
Auriculocondylar Syndrome 2
Mandibular condyle aplasia, Micrognathia, Cleft palate, Glossoptosis, Short mandibular rami, Narr... OMIM:614669
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Enlarged cochlear aqueduct, Stapes ankylosis, Progressive sensorin... ORPHA:90646
Alpha-Mannosidosis
Widely spaced teeth, Open bite, Macroglossia, Mandibular prognathia, Gingival overgrowth, Kyphosi... ORPHA:61
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Abnormal heart morphology, Atrial septal defect, P... ORPHA:401935
Noonan Syndrome 12
Ventricular septal defect, Supravalvular aortic stenosis, Polyhydramnios, Tetralogy of Fallot, Ly... OMIM:618624
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Preeclampsia/Eclampsia 1
Thrombocytopenia, Edema, Hypertension OMIM:189800
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Truncus arteriosus OMIM:601355
Craniosynostosis 3
Hallux valgus, Brachydactyly, Single transverse palmar crease OMIM:615314
Maxillonasal Dysplasia, Binder Type
Vertebral clefting, Patchy distortion of vertebrae, Dental malocclusion OMIM:155050
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Brachydactyly, Tetralogy of Fall... ORPHA:1919
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Abnormal descending aorta morphology, Patent ductus arteriosus, Anomalous or... ORPHA:99050
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... OMIM:615285
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Rhizomelia OMIM:166990
Fanconi Anemia, Complementation Group T
Short stature, Anemia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia OMIM:616435
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy, Persistent left s... ORPHA:477817
Acute Myelomonocytic Leukemia
Leukocytosis, Abnormality of the gingiva, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Brachydactyly-Arterial Hypertension Syndrome
Short metacarpal, Short phalanx of finger, Brachydactyly ORPHA:1276
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Microdontia, Amelogenesis imperfecta OMIM:301200
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Weight loss, Pulmonary arterial hypertension, Cough, A... ORPHA:1164
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Type A brachydactyly, Hypoplasia ... OMIM:112910
Dentinogenesis Imperfecta, Shields Type Iii
Periapical bone loss, Anterior open-bite malocclusion, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Cooks Syndrome
Broad thumb, Triphalangeal thumb, Brachydactyly, Split hand ORPHA:1487
Loeffler Endocarditis
Left atrial enlargement, Eosinophilia, Aortic valve stenosis, Pericarditis, Mitral regurgitation,... ORPHA:75566
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Multiple Metaphyseal Dysplasia
Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broad distal phalanx of fin... ORPHA:93430
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... OMIM:265380
Intermediate Osteopetrosis
Sandwich appearance of vertebral bodies, Osteosclerosis of the base of the skull, Anemia, Back pa... ORPHA:210110
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Microcephaly, Short distal phalanx of finger, Brachydactyly ORPHA:2787
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Dental crowding, Short stature, Long philtrum, Cleft soft palate, Kyphoscoliosis, G... OMIM:616331
2q37 monosomy
Brachydactyly DECIPHER:44
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Weyers Acrofacial Dysostosis
Postaxial foot polydactyly, Short palm, Postaxial hand polydactyly, Clinodactyly of the 5th finge... OMIM:193530
Chromosome 20Q11-Q12 Deletion Syndrome
Adducted thumb, Tarsal osteovalgus, Camptodactyly, Finger clinodactyly, Brachydactyly OMIM:614257
Proximal Symphalangism
Tarsal synostosis, Elbow ankylosis, Metacarpophalangeal synostosis, Synostosis of carpal bones, F... ORPHA:3250
Mandibulofacial Dysostosis-Microcephaly Syndrome
Large earlobe, Conductive hearing impairment, Morphological abnormality of the middle ear, Overfo... ORPHA:79113
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Transposition of the great arteries, Hypoplas... ORPHA:1727
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... ORPHA:370010
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Parastremmatic Dwarfism
Short neck, Severe short stature, Scoliosis, Kyphosis OMIM:168400
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormality of the metaphysis, Brachydactyly, Hip dysplasia, Abnormal cardiac septum morphology, ... ORPHA:2370
Cernunnos-Xlf Deficiency
B lymphocytopenia, Growth delay, Decreased circulating antibody level, Anemia, Lymphopenia, Throm... ORPHA:169079
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... OMIM:200700
Microtia With Meatal Atresia And Conductive Deafness
Anotia, Conductive hearing impairment, Microtia, Aplasia/Hypoplasia of the middle ear OMIM:251800
Bardet-Biedl Syndrome 6
Syndactyly, Polydactyly OMIM:605231
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly ORPHA:3303
Branchiootic Syndrome
Conductive hearing impairment, Morphological abnormality of the middle ear, Hearing impairment, S... ORPHA:52429
Achondroplasia
Genu varum, Megalencephaly, Bowing of the legs, Rhizomelia, Flared metaphysis, Limited elbow exte... OMIM:100800
Regional Odontodysplasia
Carious teeth, Abnormal dental enamel morphology, Delayed eruption of teeth, Short dental root, A... ORPHA:83450
Rubinstein-Taybi Syndrome 2
Carious teeth, Micrognathia, High palate, Narrow palate, Increased overbite, Retrognathia, Dental... OMIM:613684
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity, Polydactyly OMIM:615987
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Peripheral Dysostosis
Clinodactyly of the 5th finger, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand ORPHA:1795
Emery-Nelson Syndrome
Metacarpophalangeal joint contracture, Abnormal thumb morphology, Camptodactyly of finger, Contra... ORPHA:1927
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Hypogonadism, Obesity, Clinodactyly OMIM:615984
Otosclerosis 7
Progressive hearing impairment, Conductive hearing impairment, Otosclerosis, Abnormality of the a... OMIM:611572
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Congenital Disorder Of Glycosylation, Type Iik
Growth delay, Short stature, Kyphoscoliosis, Malar flattening, Amelogenesis imperfecta, Thrombocy... OMIM:614727
Bardet-Biedl Syndrome 18
Brachydactyly OMIM:615995
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Coarctation of aorta, Overriding aorta OMIM:616145
Adams-Oliver Syndrome 6
Ventricular septal defect, Portal hypertension, Truncus arteriosus, Tricuspid regurgitation OMIM:616589
Meniere Disease
Tinnitus, Vertigo, Hearing impairment OMIM:156000
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... OMIM:617927
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short metatarsal, Short 4th metacarpal, Atrial septal defect, Type E brachydactyly OMIM:113301
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal heart morphology, Coarctation of aorta, Patent ductus art... OMIM:618164
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies, Left superior vena cava draining directly to the ... OMIM:613759
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Smith-Magenis syndrome
Brachydactyly DECIPHER:8
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Abnormal heart morphology, Absent tibia, Polydactyly OMIM:188740
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Heart-Hand Syndrome Type 3
Abnormality of the metacarpal bones, Short middle phalanx of finger, Brachydactyly, Short toe ORPHA:1342
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Prominent superficial veins, Thrombocytopen... ORPHA:141179
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Genu varum, Abnormality of femur morphology, Cone-shaped epiphysis... ORPHA:1240
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... ORPHA:3287
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Intrauterine growth retardation ORPHA:1980
Cerebellofaciodental Syndrome
Macrodontia of permanent maxillary central incisor, Short stature, Taurodontia, Dental malocclusi... OMIM:616202
Mitochondrial Myopathy And Sideroblastic Anemia
Micrognathia, High palate, Long philtrum, Anemia, Kyphosis, Scoliosis, Delayed puberty ORPHA:2598
Forsythe-Wakeling Syndrome
Thrombocytopenia, Growth delay, Short stature OMIM:613606
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Deafness, Autosomal Dominant 41
Tinnitus, Progressive sensorineural hearing impairment, Hearing impairment OMIM:608224
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
20Q11.2 Microdeletion Syndrome
Finger clinodactyly, Adducted thumb, Brachydactyly, Camptodactyly ORPHA:444051
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart OMIM:601348
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Fanconi Anemia, Complementation Group G
Neutropenia, Growth delay, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Mantle Cell Lymphoma
Lymphadenopathy, Weight loss, Splenomegaly ORPHA:52416
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Orofaciodigital Syndrome Vi
Toe syndactyly, Conductive hearing impairment, Postaxial polydactyly, Failure to thrive, Posterio... OMIM:277170
Deafness, Autosomal Dominant 50
Progressive hearing impairment, Tinnitus, Sensorineural hearing impairment, Progressive sensorine... OMIM:613074
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Hypoplastic left ... OMIM:618845
Pseudopseudohypoparathyroidism
Short 5th metacarpal, Short metatarsal, Short 5th finger, Short distal phalanx of the thumb, Shor... ORPHA:79445
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Brachydactyly ORPHA:168796
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Hypertension, Raynaud phenomenon, Thrombocytopenia, Abnormal platelet aggreg... ORPHA:401945
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Short thumb, Brachydactyly ORPHA:435804
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure, Prominent superficial veins, Thrombocytopen... ORPHA:141184
Pleural Mesothelioma
Obstruction of the superior vena cava, Lymphadenopathy, Weight loss, Abnormal cardiovascular syst... ORPHA:50251
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
Isolated Brachycephaly
Brachydactyly, Metacarpal synostosis ORPHA:35099
Bone Marrow Failure Syndrome 4
Leukopenia, Short stature, Rhizomelia, Decreased circulating antibody level, Anemia, Bone marrow ... OMIM:618116
Acromesomelic Dysplasia, Hunter-Thompson Type
Tarsal synostosis, Abnormality of pelvic girdle bone morphology, Abnormally shaped carpal bones, ... ORPHA:968
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Dental enamel pits, ... OMIM:616221
Acrocraniofacial Dysostosis
Conductive hearing impairment, Triphalangeal thumb, Tapered finger, Ulnar deviation of finger, Pa... ORPHA:949
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Transaldolase Deficiency
Telangiectasia, Ventricular septal defect, Small for gestational age, Failure to thrive, Coarctat... OMIM:606003
Immunodeficiency 11B With Atopic Dermatitis
Atopic dermatitis, Eosinophilia, Asthma, Pneumonia OMIM:617638
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia OMIM:133180
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Patent ductus arteriosus, Pulmonic stenosis, Atria... OMIM:609029
Hypochondroplasia
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... ORPHA:429
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Atrial septal... OMIM:618316
Hirschsprung Disease With Type D Brachydactyly
Type D brachydactyly, Short thumb OMIM:306980
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Mitral regurgitation, Hypoplasia of the ... OMIM:612541
Orofaciodigital Syndrome Xvii
Polydactyly, Hearing impairment, Partial duplication of thumb phalanx, Central Y-shaped metacarpa... OMIM:617926
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper limb asymmetry, S... ORPHA:93387
Heart And Brain Malformation Syndrome
Interrupted aortic arch, Ventricular septal defect, Polyhydramnios OMIM:616920
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Intrauterine growth retardation, Open bite, Short stature, Mandibular prognathia, Ab... ORPHA:1327
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Primary Ciliary Dyskinesia
Pulmonary situs ambiguus, Asplenia, Bronchiectasis, Persistent left superior vena cava, Situs inv... ORPHA:244
Pycnodysostosis
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Hypoplasia of the maxilla, Spondylol... ORPHA:763
Amed Syndrome, Digenic
Leukopenia, Persistent left superior vena cava, Failure to thrive, Anemia, Bone marrow hypocellul... OMIM:619151
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Micrognathia, Cleft palate, Impaired mastication, Glossoptosis, Anter... OMIM:602483
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Hypodontia, High palate, Short stature, Irregular vertebral endplates, Kyphoscoliosis, Platyspond... OMIM:612350
Heart Defects, Congenital, And Other Congenital Anomalies
Interrupted aortic arch, Ventricular septal defect, Truncus arteriosus, Failure to thrive, Hypopl... OMIM:600001
Pelger-Huet Anomaly
Eczema, Upper limb undergrowth, Neutropenia, Short 5th metacarpal, Short 3rd metacarpal, Polydact... OMIM:169400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Spastic Paraplegia 18, Autosomal Recessive
High palate, Scoliosis, Kyphosis OMIM:611225
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant
Toe syndactyly, Triphalangeal thumb, Brachydactyly OMIM:124480
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Hirschsprung Disease-Type D Brachydactyly Syndrome
Short phalanx of hallux, Brachydactyly, Short distal phalanx of the thumb ORPHA:2150
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Broad thumb, Short metatarsal, Short metacarpal, Preaxial hand polydactyly, Bra... ORPHA:1278
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Short stature, Malar flattening, Dental malocclusion, Short neck ORPHA:436245
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Seckel Syndrome 1
Micrognathia, High palate, Cleft palate, Intrauterine growth retardation, Proportionate short sta... OMIM:210600
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Overfolded helix, Abnormality of the pinna, Underdeveloped tragus,... ORPHA:50815
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic anemia, Atrial septal def... ORPHA:49827
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Short 5th metacarpal, Short digit, Clinodactyly of the 5th finger, Abnorma... ORPHA:228190
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Congenital Toxoplasmosis
Failure to thrive in infancy, Ascites, Lymphadenopathy, Anemia, Cardiomegaly, Thrombocytopenia ORPHA:858
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Interrupted aortic arch, Ventricular septal defect, Small for gestational age, Hypoplasia of righ... ORPHA:2255
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Ovoid vert... ORPHA:40
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Atresia of the external audi... ORPHA:3236
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta ORPHA:1110
Smith-Magenis Syndrome
Broad palm, Morphological abnormality of the middle ear, Increased body weight, Hearing impairmen... OMIM:182290
Three M Syndrome 2
High palate, Intrauterine growth retardation, Short stature, Long philtrum, Malar flattening, Del... OMIM:612921
Mcdonough Syndrome
Micrognathia, Short philtrum, Short stature, Mandibular prognathia, Kyphoscoliosis, Furrowed tong... OMIM:248950
Chromosome 15Q26-Qter Deletion Syndrome
Short middle phalanx of finger, Talipes equinovarus, Brachydactyly, Abnormal cardiac septum morph... OMIM:612626
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Hypoplas... OMIM:617102
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Enamel hypomineralization, Anterior open-bite malocclusi... OMIM:204650
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Abnormally low T cell receptor excision circle l... OMIM:618987
Amelogenesis Imperfecta, Type Iiic
Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion, Hypocalcification of de... OMIM:618386
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Hydranencephaly, Talipes equinovarus, Neonatal death, Stillbirth, Clinodactyl... OMIM:236500
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Delayed ossification of carpal bones OMIM:618392
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Abnormal eosinophil morphology... ORPHA:724
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Neonatal death, Metaphyseal irregu... OMIM:187601
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Tapered finger, Brachydactyly, Clinodactyly, Microcephaly OMIM:617061
Emanuel Syndrome
Ventricular septal defect, Truncus arteriosus, Failure to thrive, Patent ductus arteriosus, Pulmo... ORPHA:96170
Camptobrachydactyly
Toe syndactyly, Ulnar deviation of finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ca... ORPHA:1319
Mulibrey Nanism
Hypodontia, Intrauterine growth retardation, Growth delay, Short stature, Hypoplastic frontal sin... OMIM:253250
Diffuse Neonatal Hemangiomatosis
Ascites, Anemia, Patent ductus arteriosus, Polyhydramnios, Thrombocytopenia, Hydrops fetalis ORPHA:2123
Septooptic Dysplasia
Polydactyly, Short finger, Absent septum pellucidum, Anterior pituitary hypoplasia, Decreased res... OMIM:182230
Congenital Disorder Of Glycosylation, Type Ih
Ascites, Failure to thrive, Abnormal heart morphology, Anemia, Patent ductus arteriosus, Oligohyd... OMIM:608104
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Micrognathia, Wide mouth, Short stature, Malar flattening, Everted low... ORPHA:85321
Congenital Disorder Of Glycosylation, Type Iig
Micrognathia, Butterfly vertebrae, Cleft palate, Smooth philtrum, Pierre-Robin sequence, High pal... OMIM:611209
Bardet-Biedl Syndrome 4
Syndactyly, Polydactyly, Brachydactyly OMIM:615982
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemi... ORPHA:3405
Pulmonary Blastoma
Weight loss, Recurrent pneumonia, Pleuropulmonary blastoma ORPHA:64741
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic sten... OMIM:179613
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Micrognathia, High palate, Short stature, Kyphoscoliosis, Supernumerary tooth, Delayed eruption o... OMIM:264475
Fanconi Anemia, Complementation Group S
Short stature, Thick upper lip vermilion, Anemia, Narrow palate, Dental malocclusion, Macrodontia OMIM:617883
Mental Retardation, Buenos Aires Type
Carious teeth, High palate, Wide mouth, Mandibular prognathia, Thin upper lip vermilion, Dental m... OMIM:249630
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Acute leukemia, Lymphadenopathy, Weight loss, Bone marrow ... ORPHA:3226
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Intracranial hemorrhage, Anemia, Patent ductu... ORPHA:163979
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Branchiogenic-Deafness Syndrome
Sensorineural hearing impairment, Atresia of the external auditory canal, Abnormality of the midd... OMIM:609166
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Double outlet right ventricle, Pulmonic stenosis, Atrial septal defect... OMIM:220210
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Short... OMIM:609616
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormality of the metaphysis, Short foot, Postaxial foot ... ORPHA:474
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Rhizomelia, Platyspondyly, Ovoid vertebral bodies, Severe platyspondyly, Postnatal growth retarda... OMIM:608940
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Hemophagocytic Lymphohistiocytosis, Familial, 4
Neutropenia, Lymphadenopathy, Edema, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Keipert Syndrome
Broad distal phalanx of finger, Broad hallux, Broad thumb, Clinodactyly, Brachydactyly OMIM:301026
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Ventricular septal defect, Leukopenia, Small for gestational age, Double outlet right ventricle, ... OMIM:301056
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Lymphadenopathy, Splenomegaly, Recurrent pharyngitis, Lymphocytosis, Vasculitis, Pan... OMIM:308240
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Limb undergrowth, Brachydactyly, Massively thickened long bone cortices, Micromelia, Microcephaly OMIM:122900
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mir... OMIM:606217
Brachydactyly, Type B1
Cutaneous finger syndactyly, Ventricular septal defect, Short middle phalanx of finger, Joint con... OMIM:113000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Failure to thrive, Anemia, Cardiomyopathy, Splenomegaly, Thrombocytopenia, Dehydration ORPHA:79312
Bardet-Biedl Syndrome 22
Polydactyly, Large for gestational age, Hypogonadism, Postaxial foot polydactyly, Obesity OMIM:617119
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... ORPHA:65759
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Ventricular septal defect, Asplenia, Failure to thrive, Mitral atresia, Double outl... OMIM:306955
Brachyolmia Type 1, Hobaek Type
Intervertebral space narrowing, Back pain, Kyphosis, Disproportionate short-trunk short stature, ... OMIM:271530
Deafness, X-Linked 2
Conductive hearing impairment, Dilatated internal auditory canal, Congenital sensorineural hearin... OMIM:304400
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Velocardiofacial Syndrome
Interrupted aortic arch, Ventricular septal defect, Unilateral primary pulmonary dysgenesis, Righ... OMIM:192430
Potocki-Lupski Syndrome
Micrognathia, High palate, Smooth philtrum, Wide mouth, Short stature, Mandibular prognathia, Den... OMIM:610883
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Arthritis, Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metatarsal, Short metacarpal, Brachydactyly OMIM:113400
Camptobrachydactyly
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly OMIM:114150
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Microcephaly, Short Stature, And Limb Abnormalities
Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Simplified gyral pattern, Mic... OMIM:617604
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Diamond-Blackfan Anemia 6
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... OMIM:612561
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Fibular hypoplasia, Atrial septal defect, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Deafness, Autosomal Dominant 2A
Tinnitus, Hearing impairment OMIM:600101
Deafness, Autosomal Dominant 58
Tinnitus, Hearing impairment OMIM:615654
Fanconi Anemia, Complementation Group V
Neutropenia, Short stature, Anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:617243
Vestibulocochlear Dysfunction, Progressive
Progressive hearing impairment, Tinnitus, Vestibular areflexia OMIM:193005
Camptodactyly Syndrome, Guadalajara, Type Ii
Hallux valgus, Short 5th toe, Short middle phalanx of finger, Short 2nd toe, Talipes equinovarus,... OMIM:211920
Short Stature-Obesity Syndrome
Limb undergrowth, Clinodactyly of the 5th finger, Micromelia, Brachydactyly OMIM:269870
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Protruding ear, Polydactyly, Small for gestational age, Upper limb asymmetry, Decreased body weig... ORPHA:231140
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the elbow, Abnormality of epiphysis morphology, Rhizomelia, P... ORPHA:3098
Bardet-Biedl Syndrome 19
Hypogonadism, Obesity, Polydactyly OMIM:615996
Lymphoproliferative Syndrome 1
Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytope... OMIM:613011
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Atrioventricular canal defect, Situs inversus totalis, Double outlet right ventricl... OMIM:605376
Reticular Dysgenesis
Leukopenia, Dehydration, Failure to thrive, Weight loss, Anemia, Recurrent respiratory infections... ORPHA:33355
Gaucher Disease, Type Iii
Splenomegaly, Vascular calcification, Pancytopenia, Thrombocytopenia, Decreased body weight OMIM:231000
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Charlie M Syndrome
Triphalangeal thumb, Finger syndactyly, Abnormality of the metacarpal bones, Split hand, Brachyda... ORPHA:1406
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Pulmonary insufficiency, B lymphocytopenia, Failure to thrive, Recurrent upper respiratory tract ... ORPHA:277
Congenital Rubella Syndrome
Ventricular septal defect, Anemia, Patent ductus arteriosus, Splenomegaly, Atrial septal defect, ... ORPHA:290
Oculoauriculovertebral Spectrum With Radial Defects
Conductive hearing impairment, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Sensorineura... ORPHA:2549
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly
Short metatarsal, Aplasia/Hypoplasia of the distal phalanges of the hand, Type B brachydactyly, S... OMIM:106990
Wt Limb-Blood Syndrome
Micrognathia, Hypoplastic anemia, Leukemia, Retrognathia, Pancytopenia, Thrombocytopenia OMIM:194350
Mal De Meleda
Congenital symmetrical palmoplantar keratosis, Brachydactyly OMIM:248300
Polycythemia Vera
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... OMIM:263300
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eczema, Bronchiectasis, Recurrent otitis media, Joint contracture of the hand, Clubbing, Keratiti... OMIM:618523
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Brachydactyly, Type E2
Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Splenomegaly, Reduced bone mineral ... ORPHA:848
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Multiple Epiphyseal Dysplasia, Beighton Type
Flattened femoral head, Abnormal acetabulum morphology, Reduced proximal interphalangeal joint sp... ORPHA:166011
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Igg4-Related Aortitis
Aortic dissection, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Thoracic ao... ORPHA:449400
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Toe clinodac... OMIM:300244
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... OMIM:156530
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Anemia OMIM:619398
Joubert Syndrome 18
Ventricular septal defect, Polydactyly, Camptodactyly OMIM:614815
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Growth delay OMIM:613987
Hypermanganesemia With Dystonia 1
Dystonia, Unconjugated hyperbilirubinemia, Polycythemia, Steppage gait, Bradykinesia, Hypermangan... OMIM:613280
Metaphyseal Acroscyphodysplasia
Metaphyseal cupping, Genu varum, Tibial bowing, Short finger, Metaphyseal widening, Narrow pelvis... OMIM:250215
Combined Oxidative Phosphorylation Deficiency 15
Obesity, Ventricular septal defect, Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome OMIM:614947
X-Linked Mandibulofacial Dysostosis
Abnormal mitral valve morphology, Webbed neck, Pulmonic stenosis, Branchial anomaly, Microcephaly ORPHA:1131
Endosteal Hyperostosis, Autosomal Dominant
Torus palatinus, Dental malocclusion, Sclerotic vertebral body OMIM:144750
Aminopterin Syndrome Sine Aminopterin
Megalencephaly, Joint contracture of the hand, Arachnodactyly, Microcephaly, Short thumb, Syndact... OMIM:600325
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Brachydactylous Dwarfism, Mseleni Type
Brachytelomesophalangy, Abnormal femoral head morphology, Abnormality of the wrist, Protrusio ace... ORPHA:2619
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Metatarsus adductus, Flat capital femoral epiphysis, Talipes equinovarus, Rh... OMIM:601560
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Ulnar deviation of finger, Camptodactyly of finger, Abnormality of pelvic girdle bone morphology,... ORPHA:2928
Orofaciodigital Syndrome Iv
Toe syndactyly, Cerebral atrophy, Postaxial polydactyly, Short finger, Foot polydactyly, Brachyda... OMIM:258860
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Atopic dermatitis, Eczema, Bronchiectasis, Recurrent otitis media, Chronic mucocutaneous candidia... OMIM:618282
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Thiamine-responsive megaloblastic anemia, Card... OMIM:249270
Gray Platelet Syndrome
Thrombocytopenia, Epistaxis, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Broad finger, Small hand, Short phalanx of finger, Clinodactyly, Brachydactyly OMIM:614684
Hydrolethalus Syndrome 2
Preaxial polydactyly, Agenesis of corpus callosum, Anencephaly, Postaxial polydactyly OMIM:614120
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Truncal obesity, Syndactyly, Postaxial foot polydactyly, Post... OMIM:615986
Wolcott-Rallison Syndrome
Neutropenia, Ascites, Iron deficiency anemia, Double outlet right ventricle, Lymphocytosis, Atria... ORPHA:1667
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Immunodeficiency 91 And Hyperinflammation
Monocytosis, Failure to thrive, Lymphadenopathy, Edema, Pulmonary hemorrhage, Recurrent lower res... OMIM:619644
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Epiphyseal dysplasia, Genu valgum, Coxa valga, Short phalanx of finger, Brachydactyly OMIM:132450
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Dental malocclusion OMIM:608931
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Abnormal pleura morphology, Pulmonary fibrosis, ... ORPHA:210136
Multiple Synostoses Syndrome 2
Tarsal synostosis, Talipes equinovarus, Finger symphalangism, Carpal synostosis, Brachydactyly, H... OMIM:610017
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops ... OMIM:619313
Schneckenbecken Dysplasia
Hypoplastic scapulae, Metaphyseal irregularity, Stillbirth, Brachydactyly, Snail-like ilia, Advan... OMIM:269250
Klippel-Trénaunay Syndrome
Ascites, Edema, Abnormal tricuspid valve morphology, Patent ductus arteriosus, Gastrointestinal h... ORPHA:90308
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed epiphyseal ossif... ORPHA:166016
Sengers Syndrome
Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis