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Gene: Atp11a MGI:1354735

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Gene Summary

Name:
ATPase, class VI, type 11A
Synonyms:
LOC100045280,  4930558F19Rik,  9130422H11Rik,  Ih

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
abnormal retina morphology Atp11atm1e(KOMP)Wtsi HET Early adult 9.25×10-06
decreased circulating cholesterol level Atp11atm1e(KOMP)Wtsi HET Early adult 1.21×10-05
increased leukocyte cell number Atp11atm1e(KOMP)Wtsi HET Early adult 2.22×10-07
preweaning lethality, complete penetrance Atp11atm1e(KOMP)Wtsi HOM   Early adult 0.00
increased bone mineral density Atp11atm1e(KOMP)Wtsi HET Early adult 3.08×10-05
decreased circulating HDL cholesterol level Atp11atm1e(KOMP)Wtsi HET Early adult 1.81×10-05

Download data as:  TSV  XLS

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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 Skull Dorso Ventral Orientation

14 Images

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Eye Morphology

Images Ophthalmoscopy

6 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

15 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Legacy Phenotype Associated Images
Atp11atm1a(KOMP)Wtsi
WT, Female, WTSI
Atp11atm1a(KOMP)Wtsi
WT, Female, WTSI
Atp11atm1a(KOMP)Wtsi
WT, Female, WTSI
Atp11atm1a(KOMP)Wtsi
WT, Female, WTSI
Atp11atm1a(KOMP)Wtsi
WT, Female, WTSI

View all 106 images

Atp11atm1a(KOMP)Wtsi
fused cornea and lens, HET, Female, WTSI
Atp11atm1a(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Atp11atm1a(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI
Atp11atm1a(KOMP)Wtsi
fused cornea and lens, HET, Male, WTSI
Atp11atm1a(KOMP)Wtsi
abnormal retinal pigmentation, HET, Male, WTSI

View all 8 images

Atp11atm1a(KOMP)Wtsi
HOM, Female, WTSI
Atp11atm1a(KOMP)Wtsi
HOM, Female, WTSI
Atp11atm1a(KOMP)Wtsi
HOM, Female, WTSI
Atp11atm1a(KOMP)Wtsi
HOM, Male, WTSI
Atp11atm1a(KOMP)Wtsi
HOM, Female, WTSI
Atp11atm1a(KOMP)Wtsi
tail skin, WT, Male, WTSI

Human diseases caused by Atp11a 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 Atp11a by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Clubbing of fingers ORPHA:2032

The table below shows human diseases predicted to be associated to Atp11a by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Ptosis, Double outlet right ventricle, Abnormal heart morphology, Coarctation of a... OMIM:618164
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Catel-Manzke Syndrome
Dextrocardia, Ventricular septal defect, Pectus excavatum, Pectus carinatum, Talipes equinovarus,... OMIM:616145
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge, Chorioretinal coloboma,... ORPHA:284169
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Vascular ring, Ventricular septal defect, Broad nasal tip, Depressed nasal bridge, Upslanted palp... OMIM:601927
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Retinal coloboma, Abnormality of t... ORPHA:508498
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Portal fibrosis, Coarctation of aorta, Pulmonic stenosis, Decreased live... OMIM:614300
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypoplastic nasal tip, 2-3 toe syndactyly, Persistent left superior vena cava, Double outlet righ... ORPHA:3304
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Cleft Palate, Cardiac Defects, And Mental Retardation
Highly arched eyebrow, Ventricular septal defect, Laterally extended eyebrow, 2-3 toe syndactyly,... OMIM:600987
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, 2-3 toe syndactyly, Talipes equinovarus, Persis... ORPHA:477817
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... ORPHA:79506
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Optic atrophy from cranial nerve compressio... OMIM:239100
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Craniosynostosis, Hypophosphatemia, Increased bone mineral density, Hypophosphatemic ric... OMIM:241520
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Anemia, Osteopenia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Hirsutism, Iris coloboma, Type I diabetes mellitus, Pterygium, Sclerotic c... ORPHA:371428
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Anomalous branches of internal carotid artery, C... ORPHA:363705
Mullegama-Klein-Martinez Syndrome
Prominent nose, Depressed nasal bridge, Polydactyly, Low anterior hairline, Congenital diaphragma... OMIM:301022
Dysplasia Of Head Of Femur, Meyer Type
Limited hip movement, Leukocytosis, Delayed femoral head ossification, Multicentric femoral head ... ORPHA:168621
Transaldolase Deficiency
Telangiectasia, Biventricular hypertrophy, Edema, Coarctation of aorta, Anemia, Cirrhosis, Hepato... ORPHA:101028
Phaver Syndrome
Broad hallux phalanx, Ventricular septal defect, Depressed nasal bridge, Myelomeningocele, Tripha... ORPHA:2876
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Mosaic Trisomy 1
Deviation of the 5th toe, Hepatic agenesis, Broad toe, Complete duplication of thumb phalanx, Pol... ORPHA:1692
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Telangiectasia, Depressed nasal bridge, Hepatic fibrosis... OMIM:606003
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, Short 5th metacarpal, Perimembranous ventricular septal defect, Short nose, Dow... OMIM:617877
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Truncus arteriosus, Coarctation of aorta, Patent ductus arteriosus, Transp... OMIM:612474
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Adducted thumb, Fetal akinesia sequence, Talipes equinovarus, Torticol... OMIM:617022
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
16P13.11 Microduplication Syndrome
Ventricular septal defect, Pectus excavatum, Coarctation of aorta, Craniosynostosis, Arachnodacty... ORPHA:261243
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Convex nasal ridge, Atrioventricular canal defect, Congenita... ORPHA:2409
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Flynn-Aird Syndrome
Increased bone density with cystic changes, Osteoporosis, Rod-cone dystrophy, Increased bone mine... OMIM:136300
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Megalencephaly, Coarctation of aorta, Abnormal corpus callosum morpho... ORPHA:280195
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Bilateral radial aplasia, Finger syndactyly, Hepatosplenomegaly,... OMIM:274000
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Developmental cataract, Laterally extended eyebrow, Convex nasal ridge, Ro... OMIM:618804
Osteomalacia, Sclerosing, With Cerebral Calcification
Generalized osteosclerosis, Osteomalacia, Increased bone mineral density OMIM:259660
Mental Retardation, Autosomal Dominant 21
Coarctation of aorta, Epicanthus, Long eyelashes, Patent ductus arteriosus, Atrial septal defect,... OMIM:615502
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Triphalangeal thumb, Abnormal aortic valve morphology, Atrioventricular ca... ORPHA:1120
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Fg Syndrome Type 1
Abnormal sternum morphology, Broad toe, Finger syndactyly, Aplasia/Hypoplasia of the corpus callo... ORPHA:93932
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Craniosynostosis, Increased bone mineral density ORPHA:178377
Osteopathia Striata-Cranial Sclerosis Syndrome
Asymmetry of the thorax, Coarctation of aorta, Facial palsy, Epicanthus, Wide nasal bridge, Delay... ORPHA:2780
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short nose, Patent ductus arteriosus, Bulbous nose, Polymicrogyria, Anteverted nares, Umbilical h... OMIM:618454
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Retinal dystrophy, Osteoporosis, Rod-cone dystrophy, Steatorrhea OMIM:266510
Noonan Syndrome 2
Shield chest, Leukemia, Abnormal sternum morphology, Abnormal coronary artery origin, Cubitus val... OMIM:605275
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Dextrocardia, Depressed nasal bridge, Atrioventricular canal defect, Coarctation of aorta, Teleca... OMIM:618929
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Alg3-Cdg
Coarctation of the descending aortic arch, Neural tube defect, Macroglossia, Cerebral white matte... ORPHA:79321
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Sclerosis of foot bone, Abnormal bone ossification, Tarsal sclerosi... ORPHA:166119
Jacobsen Syndrome
Broad hallux phalanx, Short nose, Iris coloboma, Finger syndactyly, Toe clinodactyly, Long hallux... ORPHA:2308
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Chylomicron Retention Disease
Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... OMIM:246700
Noonan Syndrome 10
Cubitus valgus, Mitral stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricul... OMIM:616564
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Dysplastic corpus callosum, Long nose, Abnormal heart morphology, Perimembra... ORPHA:363444
Sclerosteosis
Optic atrophy, Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone ... ORPHA:3152
Phace Association
Optic atrophy, Ventricular septal defect, Developmental cataract, Congenital hypothyroidism, Ling... OMIM:606519
Apert Syndrome
Cutaneous finger syndactyly, Delayed eruption of teeth, Hydrocephalus, Overriding aorta, Delayed ... OMIM:101200
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Kaufman Oculocerebrofacial Syndrome
Short nose, Telecanthus, Anteverted nares, Sparse and thin eyebrow, Sparse hair, Ventricular sept... OMIM:244450
Double Outlet Right Ventricle
Ventricular septal defect, Narrow palpebral fissure, Truncus arteriosus, Depressed nasal bridge, ... ORPHA:3426
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Convex nasal ridge, Genu varum, Downslanted palpebral fissures, ... ORPHA:1110
Mosaic Variegated Aneuploidy Syndrome 2
Ventricular septal defect, Depressed nasal bridge, Aortic regurgitation, Coarctation of aorta, Ep... OMIM:614114
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Short clavicles, Ptosis, Tapered finger, Upslanted palpebral fissure, ... OMIM:617159
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of bone mineral density, Generalized os... ORPHA:210110
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Talipes equinovarus, Proximal placement of thumb, P... ORPHA:79324
Phace Syndrome
Visceral angiomatosis, Aortic root aneurysm, Abnormal sternum morphology, Capillary hemangioma, I... ORPHA:42775
Myofibrillar Myopathy 11
Z-band streaming, Coarctation of aorta, Generalized amyotrophy, Shoulder girdle muscle atrophy, E... OMIM:619178
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Peripheral pulmonary artery stenosis, Aortic root aneurysm, Patent ductus arteriosus, Facial hema... OMIM:617506
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, 2-3 toe syndacty... OMIM:264480
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Hyperostosis cranialis interna, Myelofibrosis, Increased bone mine... OMIM:231095
Noonan Syndrome 9
Ventricular septal defect, Ptosis, Coarctation of aorta, Sparse eyebrow, Downslanted palpebral fi... OMIM:616559
Restrictive Dermopathy
Short nail, Telecanthus, Patent ductus arteriosus, Small placenta, Short palpebral fissure, Aplas... ORPHA:1662
Encephalocraniocutaneous Lipomatosis
Visceral angiomatosis, Osteochondrosis, Capillary hemangioma, Subcortical cerebral atrophy, Iris ... ORPHA:2396
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Talipes equinovarus, Upslanted palpebral fissure, Coarctation of aorta, Telecanthus, Mitral steno... OMIM:617260
Kabuki Syndrome 2
Highly arched eyebrow, Broad nasal tip, Hirsutism, Atrioventricular canal defect, Sparse lateral ... OMIM:300867
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Coarctation of aorta, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Acrocardiofacial Syndrome
Hallux valgus, Ventricular septal defect, Toe syndactyly, Truncus arteriosus, Coarctation of aort... ORPHA:2008
Paget Disease Of Bone 5, Juvenile-Onset
Ankylosis, Retinal degeneration, Hydroxyprolinemia, Osteoporosis, Hyperuricemia, Increased bone m... OMIM:239000
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Subvalvular aortic stenosis, Aplasia/Hypoplasia of the corpus callo... ORPHA:1052
Craniodiaphyseal Dysplasia, Autosomal Dominant
Optic atrophy, Diaphyseal sclerosis, Papilledema, Craniofacial hyperostosis, Cortical sclerosis, ... OMIM:122860
Kleefstra Syndrome Due To 9Q34 Microdeletion
Highly arched eyebrow, Conotruncal defect, Macroglossia, Aortic regurgitation, Coarctation of aor... ORPHA:96147
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Coarctation of aorta, Anemia, Pulmonary arterial hypertension, Atrial septal defect,... OMIM:614857
Charge Syndrome
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Retinal coloboma, Decreased response t... OMIM:214800
Meckel Syndrome, Type 1
Patent ductus arteriosus, Splenomegaly, Iris coloboma, Accessory spleen, Adrenal hypoplasia, Synd... OMIM:249000
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hirsutism, Hip contracture, Thyroid hypoplasia, Mitral atresia, Decreased response to growth horm... OMIM:619503
Mosaic Trisomy 16
Ventricular septal defect, Maternal diabetes, Preeclampsia, Abnormal heart morphology, Premature ... ORPHA:1708
Congenital Gerbode Defect
Right ventricular failure, Constrictive pericarditis, Left-to-right shunt, Vascular dilatation, H... ORPHA:99095
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Retinal coloboma, Coarctation of aorta, Facial palsy, Macular coloboma OMIM:107550
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Osteoporosis, Gout, Hypercholesterolemia, Hypertriglyceridemia OMIM:610947
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia... ORPHA:3186
Blackfan-Diamond Anemia
Neutropenia, Triphalangeal thumb, Normochromic anemia, Erythroid hypoplasia, Osteosarcoma, Reticu... ORPHA:124
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Transient ischemic attack, Anomalous pu... ORPHA:1330
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly, Periv... OMIM:619170
Linear Skin Defects With Multiple Congenital Anomalies 1
Ventricular septal defect, Histiocytoid cardiomyopathy, Colpocephaly, Congenital diaphragmatic he... OMIM:309801
Congenital Heart Defects And Skeletal Malformations Syndrome
Ventricular septal defect, Narrow nose, Pectus excavatum, Long nose, Congenital diaphragmatic her... OMIM:617602
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyelashes, Hip contracture, 11 pairs of ribs, Elbow dislocation, Absent knee epiphyses, Sh... OMIM:210710
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Methimazole Embryofetopathy
Ventricular septal defect, Abnormal aortic morphology, Coarctation of aorta, Polyhydramnios, Abno... ORPHA:1923
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Congenital diaphragmatic ... OMIM:601186
Halperin-Birk Syndrome
Optic atrophy, Developmental cataract, Agenesis of corpus callosum, Talipes equinovarus, Colpocep... OMIM:618651
Neu-Laxova Syndrome 1
Joint contracture of the hand, Patent ductus arteriosus, Small placenta, Finger syndactyly, Ptery... OMIM:256520
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low anterior hairline, Ptosis, Congenital bilateral ptosis, Concave nasal ridge, Small placenta, ... ORPHA:73272
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Ventricular septal defect, Decreased serum insulin-like gro... OMIM:614921
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Horizontal ribs, Short clavicles, Depressed nasal bridge, Atrioventricular canal de... OMIM:617088
Mueller-Weiss Syndrome
Sclerosis of foot bone, Limitation of movement at ankles, Knee osteoarthritis, Arthritis, Joint s... ORPHA:566943
Kleefstra Syndrome
Bicuspid aortic valve, Ventricular septal defect, Highly arched eyebrow, Talipes equinovarus, Mac... ORPHA:261494
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Long Qt Syndrome 16
T-wave alternans, Patent ductus arteriosus after birth at term, Perimembranous ventricular septal... OMIM:618782
Melorheostosis
Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone mineral density, J... ORPHA:2485
Mycophenolate Mofetil Embryopathy
Ventricular septal defect, Chorioretinal coloboma, Congenital diaphragmatic hernia, Coarctation o... ORPHA:268249
Scimitar Syndrome
Left-to-right shunt, Truncus arteriosus, Mitral atresia, Single ventricle, Patent ductus arterios... ORPHA:185
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Maternal Phenylketonuria
Ventricular septal defect, Double outlet right ventricle, Abnormal heart morphology, Coarctation ... ORPHA:2209
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Proximal placement of thumb, Patent ductus arteriosus, Hip subluxation, Hydro... OMIM:270400
Blomstrand Lethal Chondrodysplasia
Short nose, Telecanthus, Short ribs, Aplastic clavicle, Short thorax, Distal shortening of limbs,... ORPHA:50945
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Ventricular septal defect, Reduced alpha/beta synthesis ratio, Depressed nasal bridge, Hypochromi... OMIM:301040
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Optic atrophy, Microvesicular hepatic steatosis, Prolonged QT interval, H... ORPHA:66634
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Hypoplastic nipples, Prominent calcaneus, Short ribs, Short palpebral fis... ORPHA:96334
Heart Defects, Congenital, And Other Congenital Anomalies
Truncus arteriosus, Pancreatic hypoplasia, Double outlet left ventricle, Aplasia of the left hemi... OMIM:600001
Fanconi Anemia, Complementation Group B
Ventricular septal defect, Bilateral radial aplasia, Coarctation of aorta, Patent ductus arterios... OMIM:300514
Opitz Gbbb Syndrome
Aortic root aneurysm, Enlarged ovaries, Telecanthus, Patent ductus arteriosus, Anteverted nares, ... ORPHA:2745
Diamond-Blackfan Anemia 1
Neutropenia, Tricuspid stenosis, Triphalangeal thumb, Hypoplasia of the radius, 11 pairs of ribs,... OMIM:105650
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Myhre Syndrome
2-3 toe syndactyly, Skeletal muscle hypertrophy, Laryngotracheal stenosis, Patent ductus arterios... OMIM:139210
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Limbal dermoid, Microcornea, Depressed nasal bridge, Coarctation of ... OMIM:600268
Placental Insufficiency
Eclampsia, Preeclampsia, Abnormal heart morphology, Maternal hypertension, Spontaneous abortion, ... ORPHA:439167
Opitz Gbbb Syndrome, Type Ii
Ventricular septal defect, Depressed nasal bridge, Agenesis of corpus callosum, Pulmonary arteria... OMIM:145410
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Pectus carinatum, Abnormality of the elbow, Premature birth, Epicanthus, F... ORPHA:3268
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, Co... ORPHA:261183
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Cyst of the ductus choledochus, Partial agenesis of the corpus callosum, Broad nasal tip, Tapered... OMIM:619480
Pallister-Hall Syndrome
Abnormal prolactin level, Distal arthrogryposis, Arrhinencephaly, Polydactyly affecting the 4th f... ORPHA:672
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Elevated... OMIM:613759
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly ORPHA:2204
Hypobetalipoproteinemia, Familial, 1
Acanthocytosis, Decreased LDL cholesterol concentration, Retinal degeneration, Rod-cone dystrophy OMIM:615558
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Optic disc pallor, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Reticu... OMIM:611490
Alagille Syndrome 1
Peripheral pulmonary artery stenosis, Papillary thyroid carcinoma, Prolonged neonatal jaundice, V... OMIM:118450
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Dysplastic tricuspid valve, Neonatal death, Patent ductus arteriosus, Misa... OMIM:265380
Meacham Syndrome
Bicuspid aortic valve, Neonatal death, Aplasia of the left hemidiaphragm, Patent ductus arteriosu... OMIM:608978
Schnitzler Syndrome
Leukocytosis, Anemia, Arthritis, Splenomegaly, Increased bone mineral density ORPHA:37748
8Q24.3 Microdeletion Syndrome
Branchial cyst, Truncus arteriosus, Retinal coloboma, Capillary hemangioma, Patent ductus arterio... ORPHA:508488
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, Double outlet ... OMIM:217095
Robinow Syndrome
Short nose, Syndactyly, Anteverted nares, Umbilical hernia, Ventricular septal defect, Depressed ... ORPHA:97360
Distal Trisomy 14Q
Abnormal aortic morphology, Aplasia/Hypoplasia of the corpus callosum, Patent ductus arteriosus ORPHA:1705
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Osteopetrosis, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Schimmelpenning-Feuerstein-Mims Syndrome
Hemimegalencephaly, Hemangioma, Alopecia, Coarctation of aorta, Basal cell carcinoma, Abnormality... OMIM:163200
Fetal Akinesia Deformation Sequence 1
Talipes equinovarus, Generalized amyotrophy, Telecanthus, Small placenta, Short palpebral fissure... OMIM:208150
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Dry hair, Dysplastic corpus callosum, Low anterior hairline, Short 5th meta... OMIM:618569
Williams Syndrome
Bicuspid aortic valve, Hallux valgus, Peripheral pulmonary artery stenosis, Short nose, Patent du... ORPHA:904
Albers-Schönberg Osteopetrosis
Optic atrophy, Generalized osteosclerosis, Anemia, Arthritis, Osteomyelitis, Mandibular osteomyel... ORPHA:53
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Osteopetrosis, Craniosynostosis, Anemia, Calvarial osteosclerosis, Splenomegaly, P... OMIM:259700
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Pectus excavatum, Hypertrichosis, Wide nose, Fused cervical vertebrae, Sprengel anomaly, Muscular... OMIM:619227
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased intramyocellular lipid droplets, Leukoencephalopathy, Patent ductus arteriosus, Cerebra... ORPHA:17
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Kabuki Syndrome
Microcornea, Highly arched eyebrow, Short middle phalanx of finger, Ptosis, Sparse lateral eyebro... ORPHA:2322
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Recurrent fractures, Increased bone mineral density OMIM:166740
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
Ctcf-Related Neurodevelopmental Disorder
Broad hallux phalanx, 2-3 toe syndactyly, Short nose, Patent ductus arteriosus, Anteverted nares,... ORPHA:363611
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration OMIM:616834
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Hardikar Syndrome
Cholangitis, Decreased serum insulin-like growth factor 1, Intrahepatic bile duct cysts, Patent d... OMIM:301068
Distal Monosomy 15Q
Bicuspid aortic valve, Decreased serum insulin-like growth factor 1, Talipes equinovarus, Mitral ... ORPHA:1596
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Cranial hyperostosis, Osteopetrosis, Anemia, Diaphyseal sclerosis, Osteomyelitis, ... OMIM:259710
Turner Syndrome Due To Structural X Chromosome Anomalies
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... ORPHA:99413
Turner Syndrome
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... ORPHA:881
Mosaic Monosomy X
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... ORPHA:99228
Monosomy X
Irregular proximal tibial epiphyses, Bicuspid aortic valve, Shield chest, Short 5th metacarpal, C... ORPHA:99226
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Small placenta, Short 5th finger, Clinodactyly of the 5th finger, Oligohydramnios, S... ORPHA:397590
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Squalene Synthase Deficiency
Hypocholesterolemia, Optic nerve hypoplasia, Increased circulating farnesol concentration, Knee f... OMIM:618156
Noonan Syndrome 1
Shield chest, Superior pectus carinatum, Abnormal sternum morphology, Cubitus valgus, Patent duct... OMIM:163950
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Hamartoma of tongue, Coarctation of aorta, Subvalvular ao... OMIM:217085
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Abnormal aortic arch morphology, Abnormal descend... ORPHA:99050
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Fractures of the long bones, Osteopetrosis, Generalized osteosclerosis, Mandi... OMIM:166600
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly, Steatorrhea OMIM:607765
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Holt-Oram Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the radius, Patent ductus arteriosus, Finger syndactyl... ORPHA:392
Craniofacial Microsomia
Limbal dermoid, Ventricular septal defect, Upper eyelid coloboma, Agenesis of corpus callosum, Co... OMIM:164210
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Feingold Syndrome Type 1
Interrupted aortic arch, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Tric... ORPHA:391641
Isolated Right Ventricular Hypoplasia
Right ventricular failure, Systolic heart murmur, Bidirectional shunt, Right bundle branch block,... ORPHA:439
Pallister-Hall Syndrome
Neonatal death, Short nose, Distal shortening of limbs, Patent ductus arteriosus, Adrenal hypopla... OMIM:146510
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Trichiasis, Meningioma, Cardiac conduction abnormality, Patent ductus arte... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Trichiasis, Meningioma, Cardiac conduction abnormality, Patent ductus arte... ORPHA:353277
Trichohepatoenteric Syndrome 1
Brittle hair, Woolly hair, Anteverted nares, Abnormalities of placenta or umbilical cord, Sparse ... OMIM:222470
Holoprosencephaly
Iris coloboma, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:2162
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
17Q11 Microdeletion Syndrome
Plexiform neurofibroma, Leukemia, Optic nerve glioma, Brain neoplasm, Cerebellar glioma, Brainste... ORPHA:97685
Meacham Syndrome
Abnormality of the spleen, Ventricular septal defect, Conotruncal defect, Situs inversus totalis,... ORPHA:3097
Mungan Syndrome
Bilateral ptosis, Perimembranous ventricular septal defect, Abnormality of the autonomic nervous ... OMIM:611376
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Short nose, Proximal placement of thumb, Patent ductus arteriosus, Pulmonar... ORPHA:251071
Klippel-Trénaunay Syndrome
Hepatomegaly, Ascites, Hemangioma, Edema, Abnormal tricuspid valve morphology, Patent ductus arte... ORPHA:90308
Chylomicron Retention Disease
Acanthocytosis, Steatorrhea, Hypocholesterolemia, Retinopathy ORPHA:71
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Hallux valgus, Retinal coloboma, Telecanthus, Patent ductus arteriosus, Ir... ORPHA:261552
Carpenter Syndrome 1
Genu varum, Telecanthus, Joint contracture of the hand, Patent ductus arteriosus, Deviation of fi... OMIM:201000
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Ventricular septal defect, Abnormal heart morphology, Coat hanger sign of ri... ORPHA:254534
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Congenital diaphragmatic hernia, Abnormali... ORPHA:1166
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Double outlet right ventricle, Missing ribs, D... OMIM:220210
Esophageal Atresia
Ventricular septal defect, Maternal diabetes, Absence of stomach bubble on fetal sonography, Gast... ORPHA:1199
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Meningioma, Cardiac conduction abnormality, Patent ductus arteriosus, Low ... ORPHA:353281
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pancreatic hypoplasia, Biliary hyperplasia, Contracture of the distal interphalangeal joint of th... ORPHA:83617
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Underdeveloped nasal alae, Abnormal aortic morphology, Ventricular septal defect, Truncus arterio... ORPHA:2516
Hyperlipidemia, Familial Combined, 3
Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... OMIM:144250
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... OMIM:618963
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Narrow palpebral fissure, Pectus excavatum, Depressed nasal bridge, Macroglo... ORPHA:254528
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Hallux valgus, Short metatarsal, Cubitus valgus, Low posterior hairline, S... ORPHA:1772
Floating-Harbor Syndrome
Prominent nose, Hirsutism, Persistent left superior vena cava, Coarctation of aorta, Mesocardia, ... OMIM:136140
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Talipes equinovarus, Arterial rupture, Hip subluxation, Vascular dilatation, Thoracic scoliosis, ... ORPHA:1900
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Acanthocytosis, Elevated circulating creatine kinase concentration, Hypocholestero... ORPHA:96180
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Ventricular septal defect, Depressed nasal bridge, Abnormality of the anterior pituitary, Upslant... ORPHA:75389
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Hallux valgus, Retinal coloboma, Telecanthus, Delayed eruption of teeth, I... ORPHA:261537
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density OMIM:265800
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Anemia, Aplasia/Hypoplasia of the iris, Patent ductus ar... ORPHA:290
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Metopic synostosis, Ptosis, Coarctation of aorta, Hypoplastic left hea... OMIM:618748
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Vascular ring, Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Mitral regurgi... OMIM:603387
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Hypertension, Peripheral pulmonary artery stenosis, Long... ORPHA:52
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia/Hypoplasia o... ORPHA:84
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Abnormal cranial nerve morphology, Abnormal vertebral segmentation and... ORPHA:2345
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Floating-Harbor Syndrome
Shield chest, Low hanging columella, 11 pairs of ribs, Long nose, Atrial septal defect, Enlarged ... ORPHA:2044
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Heterotaxy, Visceral, 5, Autosomal
Dextrocardia, Ventricular septal defect, Ascending tubular aorta aneurysm, Abdominal situs invers... OMIM:270100
14Q24.1Q24.3 Microdeletion Syndrome
Limited elbow extension and supination, Ventricular septal defect, Truncus arteriosus, Abnormal h... ORPHA:401935
Kagami-Ogata Syndrome
Patent ductus arteriosus, Splenomegaly, Short palpebral fissure, Diastasis recti, Anteverted nare... OMIM:608149
Trisomy 13
Optic atrophy, Ventricular septal defect, Capillary hemangioma, Aplasia/Hypoplasia of the iris, P... ORPHA:3378
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Coarctation of aorta, Bifid sternum, Supraumbilical raphe, Right aortic arch, Cavernous hemangiom... OMIM:140850
Restrictive Dermopathy 1
Sparse eyelashes, Short nail, Congenital pseudoarthrosis of the clavicle, Hydropic placenta, Pate... OMIM:275210
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hirsutism, Talipes equinovarus, Telecanthus, Abnormal left ventricular function, Ventricular sept... OMIM:301056
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
Mowat-Wilson Syndrome
Bicuspid aortic valve, Hallux valgus, Retinal coloboma, Telecanthus, Patent ductus arteriosus, Ir... ORPHA:2152
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Osteopetrosis, Anemia, Splenomegaly, Hepatosplenomegaly, Extramedullary hematopoiesis OMIM:612840
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... OMIM:616000
2Q37 Microdeletion Syndrome
Finger syndactyly, Anteverted nares, Sparse and thin eyebrow, Nephroblastoma, Umbilical hernia, S... ORPHA:1001
Osteogenesis Imperfecta, Type Xiii
Joint hypermobility, Osteoporosis, Increased bone mineral density OMIM:614856
Congenital Total Pulmonary Venous Return Anomaly
Right ventricular failure, Mitral atresia, Single ventricle, Low-output congestive heart failure,... ORPHA:99125
Buschke-Ollendorff Syndrome
Generalized osteosclerosis, Hyperostosis, Craniosynostosis, Abnormal bone structure, Arthritis, O... ORPHA:1306
3P25.3 Microdeletion Syndrome
Congenital pseudoarthrosis of the clavicle, Proximal placement of thumb, Patent ductus arteriosus... ORPHA:435638
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... ORPHA:232
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Clubbing, Split hand, ... OMIM:600460
Majeed Syndrome
Leukocytosis, Hypochromic microcytic anemia, Synovitis, Congenital hypoplastic anemia, Increased ... ORPHA:77297
Autosomal Dominant Cutis Laxa
Developmental cataract, Adducted thumb, Peripheral pulmonary artery stenosis, Ptosis, Mitral regu... ORPHA:90348
Kabuki Syndrome 1
Hirsutism, Prominent eyelashes, Sparse and thin eyebrow, Hemolytic anemia, Prominent fingertip pa... OMIM:147920
Renpenning Syndrome
Prominent nose, Pectus excavatum, Skeletal muscle atrophy, Thin eyebrow, Upslanted palpebral fiss... ORPHA:3242
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Thickened cortex of long bones, Anemia, Papilledema, Increased bone minera... OMIM:127000
Chromosome 18Q Deletion Syndrome
Talipes equinovarus, Decreased response to growth hormone stimulation test, Proximal placement of... OMIM:601808
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypopigmentation of the fundus, Retinal detachment, Increased bone mineral density, Abnormal bone... ORPHA:163649
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Kagami-Ogata Syndrome
Thoracic hypoplasia, Coxa valga, Depressed nasal bridge, Premature birth, Coat hanger sign of rib... ORPHA:254519
Arterial Tortuosity Syndrome
Hypertension, Pectus excavatum, Convex nasal ridge, Pectus carinatum, Ischemic stroke, Ventricula... OMIM:208050
Pallister-Killian Syndrome
Sparse eyelashes, Short nose, Telecanthus, Patent ductus arteriosus, Delayed eruption of teeth, 1... OMIM:601803
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Keutel Syndrome
Optic atrophy, Ventricular septal defect, Underdeveloped nasal alae, Depressed nasal bridge, Wide... ORPHA:85202
Aorto-Ventricular Tunnel
Abnormal aortic morphology, Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary arte... ORPHA:3400
Dysosteosclerosis
Optic atrophy, Coarse metaphyseal trabecularization, Craniofacial hyperostosis, Increased bone mi... ORPHA:1782
Gaucher Disease Type 1
Leukopenia, Anemia, Splenomegaly, Pathologic fracture, Osteopenia, Hypersplenism, Increased bone ... ORPHA:77259
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Osteopetrosis, Anemia, Decreased osteoclast count, Hyperbilirub... OMIM:259720
Pseudohypoparathyroidism Type 1B
Increased bone density with cystic changes, Hypocalcemic tetany, Hypocalcemic seizures, Diaphysea... ORPHA:94089
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Wi... ORPHA:93267
Abetalipoproteinemia
Abnormality of retinal pigmentation, Decreased HDL cholesterol concentration, Acanthocytosis, Dec... ORPHA:14
Fryns Syndrome
Abnormal aortic morphology, Aganglionic megacolon, Abnormal aortic arch morphology, Congenital di... ORPHA:2059
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hypocholesterolemia, Rod-cone dystrophy, Osteopenia, Flexion contracture, Hypoalb... OMIM:212065
Johnson Neuroectodermal Syndrome
Ventricular septal defect, Hypogonadotropic hypogonadism, Alopecia, Absent eyebrow, Facial palsy,... OMIM:147770
Apolipoprotein C-Ii Deficiency
Lipemia retinalis, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulatin... OMIM:207750
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Ventricular septal defect, Anencephaly, Holoprosencephaly, Situs inversus totalis, A... ORPHA:1908
Tetrasomy 9P
Large beaked nose, Talipes equinovarus, Raynaud phenomenon, Bulbous nose, Polymicrogyria, Hydroce... ORPHA:3310
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Synostosis of carpal bones, Increased bone mineral de... ORPHA:90650
Cartilage-Hair Hypoplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Metaphyseal dysplasia, Neutropenia, Short t... ORPHA:175
Schimke Immunoosseous Dysplasia
Fine hair, Abnormal T cell morphology, Opacification of the corneal stroma, Hypertension, Depress... OMIM:242900
Pagod Syndrome
Meningocele, Optic atrophy, Abnormal aortic morphology, Abnormality of the spleen, Situs inversus... ORPHA:991
Mucopolysaccharidosis Type 2, Attenuated Form
Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Umbilical hernia, Hypertension, Abnorm... ORPHA:217093
Hyperoxaluria, Primary, Type I
Optic atrophy, Optic neuropathy, Hyperoxaluria, Choroidal neovascularization, Retinal crystals, P... OMIM:259900
Craniodiaphyseal Dysplasia
Optic atrophy, Depressed nasal bridge, Diaphyseal thickening, Wide nasal bridge, Abnormal rib mor... ORPHA:1513
Dextrocardia
Dextrocardia, Abnormality of the spleen, Neuroblastoma, Pancreatic hypoplasia, Situs inversus tot... ORPHA:1666
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Aganglionic megacolon, Tapered finger, Short nose, Promi... OMIM:613870
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Paget Disease Of Bone 3
Patchy osteosclerosis, Fractures of the long bones, Osteolysis OMIM:167250
Abetalipoproteinemia
Acanthocytosis, Retinal degeneration, Retinopathy, Abetalipoproteinemia OMIM:200100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Anomalous origin of ri... OMIM:610338
Idiopathic Congenital Hypothyroidism
Depressed nasal bridge, Delayed proximal femoral epiphyseal ossification, Macroglossia, Decreased... ORPHA:95717
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Telecanthus, Short ribs, Anteverted nares, Short femur, Hydrops fetalis, Hypertrophic... OMIM:616897
Autosomal Recessive Multiple Pterygium Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal sternum morphology, Symphalangism ... ORPHA:2990
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology, Microcephaly ORPHA:2435
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Mosaic Trisomy 9
Talipes equinovarus, Patent ductus arteriosus, Bulbous nose, Camptodactyly of finger, Finger clin... ORPHA:99776
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Coloboma, Underdeveloped nasal alae, Ventricular septal defect, Atrial sep... ORPHA:453499
10Q22.3Q23.3 Microduplication Syndrome
Upslanted palpebral fissure, Abnormal clavicle morphology, Abnormal rib morphology, Tetralogy of ... ORPHA:276422
De Barsy Syndrome
Talipes equinovarus, Patent ductus arteriosus, Delayed eruption of teeth, Sparse hair, Umbilical ... ORPHA:2962
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Histiocytosis-Lymphadenopathy Plus Syndrome
Facial telangiectasia, Hallux valgus, Pancreatic hypoplasia, Lymphadenopathy, Patent ductus arter... OMIM:602782
Aortic Aneurysm, Familial Thoracic 9
Pectus excavatum, Mitral valve prolapse, Atrial fibrillation, Pectus carinatum, Arachnodactyly, A... OMIM:616166
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Short nose, Finger syndactyly, Camptodactyly of finger, Anteverted nares, U... ORPHA:1507
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short nose, 11 pair... OMIM:108720
Trisomy 1Q
Toe syndactyly, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic herni... ORPHA:261344
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Ventricular septal defect, Congenital hypothyroidism, Abnormal sternum morphology, Pulmonary arte... ORPHA:2519
Combined Pituitary Hormone Deficiencies, Genetic Forms
Abnormal prolactin level, Anterior pituitary hypoplasia, Abnormality of secondary sexual hair, De... ORPHA:95494
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology, Anemi... ORPHA:3405
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, 2-3 toe syndactyly, Finger syndactyly, Cerebral atrophy, Anteverted nare... ORPHA:464738
Charge Syndrome
Patent ductus arteriosus, Iris coloboma, Delayed eruption of teeth, Anterior hypopituitarism, Cho... ORPHA:138
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Osteopetrosis, Anemia, Diaphyseal sclerosis, Hepatosplenomegaly, Extrame... OMIM:259730
Contractural Arachnodactyly, Congenital
Bicuspid aortic valve, Distal arthrogryposis, Hip contracture, Talipes equinovarus, Aortic root a... OMIM:121050
Giant Axonal Neuropathy
Diffuse axonal swelling, Talipes equinovarus, Limb muscle weakness, Facial palsy, Abnormality of ... ORPHA:643
22Q11.2 Deletion Syndrome
Arrhinencephaly, Truncus arteriosus, Talipes equinovarus, Hypoplasia of the thymus, Telecanthus, ... ORPHA:567
Short-Rib Thoracic Dysplasia 12
Hypoplastic nipples, Hamartoma of tongue, Neonatal death, Short thorax, Short ribs, Patent ductus... OMIM:269860
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Hypertension, Aortic regurgitation, Coarctation of aorta, Abnormal left ve... ORPHA:402075
Weill-Marchesani Syndrome 2
Short metatarsal, Patent ductus arteriosus, Aortic valve stenosis, Umbilical hernia, Elbow flexio... OMIM:608328
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Aplasia/Hypoplasia of the radius, Proximal placement of thumb, Patent ductus ... ORPHA:818
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Telecanthus, Short ribs... ORPHA:56304
Citrullinemia, Type Ii, Neonatal-Onset
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... OMIM:605814
Slc35A2-Cdg
Talipes equinovarus, Elevated circulating thyroid-stimulating hormone concentration, Short corpus... ORPHA:356961
Limb Body Wall Complex
Cutaneous finger syndactyly, Ectopia cordis, Lens subluxation, Iris coloboma, Diastasis recti, Hy... ORPHA:2369
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Knee osteoarthritis, Abnormal epiphyseal ossification, Localized osteoporosis... ORPHA:93284
Diastrophic Dysplasia
Joint stiffness, Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger ORPHA:628
Duane-Radial Ray Syndrome
Triphalangeal thumb, Retinal coloboma, Hypoplasia of the radius, Iris coloboma, Syndactyly, Vascu... OMIM:607323
Autoimmune Hypoparathyroidism
Hypocalcemic tetany, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hyperph... ORPHA:36913
Mosaic Trisomy 14
Ptosis, Prominent nasal bridge, Wide nasal bridge, Narrow chest, Abnormal rib morphology, Camptod... ORPHA:1703
Giant Cell Arteritis
Optic atrophy, Aortic dissection, Abdominal aortic aneurysm, Pericarditis, Mediastinal lymphadeno... ORPHA:397
Cinca Syndrome
Leukocytosis, Anemia, Arthritis, Papilledema, Hepatosplenomegaly, Eosinophilia, Elevated circulat... OMIM:607115
Autosomal Recessive Spondylocostal Dysostosis
Meningocele, Depressed nasal bridge, Congenital diaphragmatic hernia, Rib segmentation abnormalit... ORPHA:2311
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Single umbilical artery, Hypoplastic left heart, Abnormal rib morpholo... ORPHA:2772
Hypertrichotic Osteochondrodysplasia, Cantu Type
Broad hallux phalanx, Curly eyelashes, Patent ductus arteriosus, Finger syndactyly, Anteverted na... ORPHA:1517
Achondrogenesis Type 1B
Talipes equinovarus, Short nose, Short thorax, Polyhydramnios, Thickened nuchal skin fold, Short ... ORPHA:93298
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Abnormal sternum... ORPHA:91387
Mucopolysaccharidosis Type 2, Severe Form
Splenomegaly, Hepatosplenomegaly, Camptodactyly of finger, Umbilical hernia, Hypertension, Abnorm... ORPHA:217085
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Ventricular septal defect, Peripheral pulmonary artery stenosis, Hypoplasia of th... OMIM:613001
Shprintzen-Goldberg Craniosynostosis Syndrome
Talipes equinovarus, Telecanthus, Joint contracture of the hand, Genu recurvatum, Hydrocephalus, ... OMIM:182212
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Abdominal situs ... OMIM:208530
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Microphthalmia, Syndromic 3
Ventricular septal defect, Vertebral fusion, Hypothalamic hamartoma, Optic nerve hypoplasia, Hypo... OMIM:206900
Mucopolysaccharidosis Type 2
Splenomegaly, Umbilical hernia, Hypertension, Abnormal aortic morphology, Abnormal tricuspid valv... ORPHA:580
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... ORPHA:75564
X-Linked Intellectual Disability, Nascimento Type
Neutropenia, Peripheral pulmonary artery stenosis, Mitral stenosis, Patent ductus arteriosus, Low... ORPHA:163956
Cranioectodermal Dysplasia 2
Cholangitis, Sparse eyelashes, Portal fibrosis, Telecanthus, Short ribs, Patent ductus arteriosus... OMIM:613610
Hurler Syndrome
Splenomegaly, Hydrocephalus, Camptodactyly of finger, Anteverted nares, Abnormal nerve conduction... ORPHA:93473
Jacobsen Syndrome
Short nose, Telecanthus, Nasolacrimal duct obstruction, Iris coloboma, Hydrocephalus, Anteverted ... OMIM:147791
Carey-Fineman-Ziter Syndrome
Myopathy, Skeletal muscle atrophy, Laryngeal stenosis, Talipes equinovarus, Ptosis, Ulnar deviati... ORPHA:1358
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Depressed nasal ridge, Broad hallux phalanx, Ptosis, Broad thumb, Dow... ORPHA:2211
Marcus-Gunn Syndrome
Abnormal heart morphology, Unilateral ptosis, Abnormal fifth cranial nerve morphology, Coloboma, ... ORPHA:91412
Prune Belly Syndrome
Ventricular septal defect, Pectus excavatum, Talipes equinovarus, Congenital hip dislocation, Pat... ORPHA:2970
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Familial Thyroid Dyshormonogenesis
Depressed nasal bridge, Congenital hypothyroidism, Goiter, Delayed proximal femoral epiphyseal os... ORPHA:95716
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
2-3 toe syndactyly, Bilateral ptosis, Capillary hemangioma, Patent ductus arteriosus, Toe clinoda... ORPHA:163979
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Short palpebral fis... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Short palpebral fis... ORPHA:363958
Stuve-Wiedemann Syndrome 1
Metaphyseal rarefaction, Short nose, Short palpebral fissure, Femoral bowing, Contracture of the ... OMIM:601559
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neutropenia, Hypoplasia of the thymus, Patent ductus arteriosus, Splenomegaly, Erythroid hypoplas... OMIM:612541
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Arthrit... OMIM:210250
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Trisomy 18
Short nose, Iris coloboma, Deviation of finger, Aplasia/Hypoplasia of the corpus callosum, Campto... ORPHA:3380
Ogden Syndrome
Palpebral thickening, Broad hallux, Cerebral atrophy, Pulmonary artery stenosis, Sparse and thin ... OMIM:300855
Beckwith-Wiedemann Syndrome
Splenomegaly, Diastasis recti, Facial hemangioma, Large placenta, Umbilical hernia, Nephroblastom... ORPHA:116
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy ORPHA:3222
Camurati-Engelmann Disease
Cortical thickening of long bone diaphyses, Optic nerve compression, Anemia, Diaphyseal sclerosis... OMIM:131300
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Talipes equinovarus, Abnormal heart morphology, Long fingers, Abnormal corpus ... OMIM:618343
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Intracranial hemorrhage, Edema, Venous insufficiency, Pulmonar... ORPHA:624
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Ventricular septal defect, Pectus excavatum, Downslanted palpebral fissures, Optic disc coloboma,... ORPHA:52055
Omodysplasia 1
Limited elbow flexion, Short nose, Increased fibular diameter, Limited elbow extension, Short hum... OMIM:258315
White Forelock With Malformations
Epicanthus, Finger syndactyly, White forelock, Sprengel anomaly, Atrial septal defect, Abnormal r... ORPHA:2475
Basal Cell Nevus Syndrome
Abnormal sternum morphology, Basal cell carcinoma, Short ribs, Iris coloboma, Hydrocephalus, Shor... OMIM:109400
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Triphalangeal thumb, Hypoplasia of first ribs, Talipes equinovarus, Aplasia/Hypopl... OMIM:154400
Simpson-Golabi-Behmel Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Talipes equinovarus, Short nose, Splenomega... ORPHA:373
1P36 Deletion Syndrome
Dilated cardiomyopathy, Ocular albinism, Patent ductus arteriosus, Foot polydactyly, 11 pairs of ... ORPHA:1606
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Myxomatous mitral valve degeneration, Aortic dissection, Mucoid extracellular matrix accumulation... OMIM:130090
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Opacification of the corneal stroma, Hirsutism, Depressed nasal bridge, Macroglossi... OMIM:253200
Greenberg Dysplasia
Neonatal death, Short ribs, 11 pairs of ribs, Hepatosplenomegaly, Abnormal ossification involving... OMIM:215140
Oculocerebrocutaneous Syndrome
Ptosis, Congenital diaphragmatic hernia, Alopecia, Missing ribs, Congenital hip dislocation, Iris... ORPHA:1647
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pancreatic hypoplasia, Double outlet left ventricle, Patent ductus arteriosus, Congenital defect ... ORPHA:2255
Spondylocostal Dysostosis 4, Autosomal Recessive
Dextrocardia, Myelomeningocele, Vertebral fusion, Block vertebrae, Situs inversus totalis, Missin... OMIM:613686
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Ventricular septal defect, Broad nasal tip, C1-C2 subluxation, Short dista... ORPHA:79345
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Myocarditis, Aortic root aneurysm, Short nose, Short palpebral fissure, V... ORPHA:3342
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Biliary, Renal, Neurologic, And Skeletal Syndrome
Left-to-right shunt, Neonatal death, Patent ductus arteriosus, Splenomegaly, Anterior pituitary h... OMIM:619534
Microphthalmia, Syndromic 2
Adrenal insufficiency, 2-3 toe syndactyly, Talipes equinovarus, Patent ductus arteriosus, Iris co... OMIM:300166
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Sparse eyelashes, Prominent superficial veins, Sparse and thin eyebrow, ... OMIM:614008
Craniofacioskeletal Syndrome
Interrupted aortic arch, Ventricular septal defect, Shield chest, Small hand, Downslanted palpebr... OMIM:300712
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Sparse eyelashes, Talipes equinovarus, Short nose, Patent ductus arteriosus, Low posterior hairli... OMIM:213980
Loeys-Dietz Syndrome 4
Bicuspid aortic valve, Aortic dissection, Ascending tubular aorta aneurysm, Mitral valve prolapse... OMIM:614816
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Upslanted palpebral fissure, Patent ductus arteriosus, Hypoplastic le... ORPHA:2001
Igg4-Related Ophthalmic Disease
Cholangitis, Lymphadenopathy, Dacryocystitis, Abnormal fifth cranial nerve morphology, Nasolacrim... ORPHA:449563
Monosomy 9Q22.3
Pectus excavatum, Odontogenic keratocysts of the jaw, Metopic synostosis, Rhabdomyosarcoma, Polyd... ORPHA:77301
Metatropic Dysplasia
Long thorax, Depressed nasal bridge, Abnormality of the metaphysis, Coarse metaphyseal trabecular... ORPHA:2635
Velocardiofacial Syndrome
Interrupted aortic arch, Underdeveloped nasal alae, Ventricular septal defect, Narrow palpebral f... OMIM:192430
Distal 22Q11.2 Microdeletion Syndrome
Truncus arteriosus, Camptodactyly of finger, Choanal atresia, Highly arched eyebrow, Ventricular ... ORPHA:261330
Mowat-Wilson Syndrome
Patent ductus arteriosus, Iris coloboma, Low hanging columella, Delayed eruption of teeth, Pulmon... OMIM:235730
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Jeune Syndrome
Toe syndactyly, Abnormal sternum morphology, Abnormal clavicle morphology, Short thorax, Abnormal... ORPHA:474
Gaucher Disease
Elevated circulating C-reactive protein concentration, Cherry red spot of the macula, Anemia, Abn... ORPHA:355
Cooper-Jabs Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Missing ribs, Proximal placement of t... ORPHA:1488
Proteus-Like Syndrome
Limbal dermoid, Communicating hydrocephalus, Thymus hyperplasia, Hemangioma, Polycystic ovaries, ... ORPHA:2969
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Talipes equinovarus, Coloboma, Supernumerary nipple, Underdeveloped nasal ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Talipes equinovarus, Coloboma, Supernumerary nipple, Underdeveloped nasal ... ORPHA:352665
Osteopathia Striata With Cranial Sclerosis
Talipes equinovarus, Joint contracture of the hand, Patent ductus arteriosus, Hydrocephalus, Camp... OMIM:300373
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatomegaly, Depressed nasal ridge, Hypertr... OMIM:230500
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Long eyelashes in irregular rows, Hip contracture, Skeletal muscle hypertro... ORPHA:800
Short Rib-Polydactyly Syndrome
Short ribs, Syndactyly, Flat acetabular roof, Short tibia, Depressed nasal bridge, Hepatic fibros... ORPHA:1505
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic root aneurysm, Leukoencephalopathy, Patent ... OMIM:607872
Tricho-Dento-Osseous Syndrome
Periapical tooth abscess, Increased bone mineral density ORPHA:3352
Larsen Syndrome
Short nail, Talipes equinovarus, Short metatarsal, Spatulate thumbs, Bipartite calcaneus, Ventric... OMIM:150250
Familial Cerebral Saccular Aneurysm
Aortic dissection, Hypertension, Intracranial hemorrhage, Abnormal circle of Willis morphology, C... ORPHA:231160
Fibrochondrogenesis 1
Short nose, Joint contracture of the hand, Short ribs, Megalocornea, Camptodactyly, Anteverted na... OMIM:228520
Autosomal Dominant Spondylocostal Dysostosis
Upslanted palpebral fissure, Posterior rib fusion, Short thorax, Wide nasal bridge, Missing ribs,... ORPHA:1797
Dysosteosclerosis
Optic atrophy, Increased susceptibility to fractures, Sclerotic scapulae, Sclerosis of hand bone,... OMIM:224300
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Myocardial steatosis, Premature coronary artery atherosclerosis, Abnorm... ORPHA:391665
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... ORPHA:2911
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Short nose, Patent ductus arteriosus, Hypoplasia of proximal radius, Hip su... ORPHA:444077
Tangier Disease
Hypocholesterolemia, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia ORPHA:31150
Marfan Syndrome
Mitral valve calcification, Lens subluxation, Aortic tortuosity, Protrusio acetabuli, Limited elb... ORPHA:558
Fraser Syndrome 1
Cutaneous finger syndactyly, Extension of hair growth on temples to lateral eyebrow, Aplasia/Hypo... OMIM:219000
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Rubinstein-Taybi Syndrome 1
Hirsutism, Radial deviation of thumb terminal phalanx, Leukemia, Capillary hemangioma, Patent duc... OMIM:180849
Atelosteogenesis Type I
Abnormal pancreatic duct morphology, Thoracic hypoplasia, Laryngeal stenosis, Laryngotracheal ste... ORPHA:1190
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Hyperlipoproteinemia, Type I
Hyperlipidemia, Lipemia retinalis, Lactescent serum, Splenomegaly, Hypercholesterolemia, Hepatosp... OMIM:238600
Yunis-Varon Syndrome
Arrhinencephaly, Sparse eyelashes, Short middle phalanx of finger, Short ribs, Syndactyly, Hydroc... ORPHA:3472
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Sclerotic scapulae, Absent ossification of thor... OMIM:601376
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Optic nerve compression, Pulmonary artery stenosis, Chronic rhinitis, Lymphadenopat... ORPHA:667
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Abnormal muscle fiber morphology, Skeletal muscle atrophy, Pectus carinatum, Ptosis, Hypogonadotr... ORPHA:3068
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Osteopetrosis, Hypocalcemia OMIM:618476
Aicardi Syndrome
Dilated third ventricle, Proximal placement of thumb, Polymicrogyria, Block vertebrae, Anteverted... OMIM:304050
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Proboscis Lateralis
Patent ductus arteriosus, Nasolacrimal duct obstruction, Proboscis, Iris coloboma, Cyclopia, Choa...