Gene Summary

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

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
decreased circulating cholesterol level Atp11atm1e(KOMP)Wtsi HET Early adult 1.21×10-05
abnormal retina morphology Atp11atm1e(KOMP)Wtsi HET Early adult 9.25×10-06
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
decreased circulating HDL cholesterol level Atp11atm1e(KOMP)Wtsi HET Early adult 1.81×10-05
increased bone mineral density Atp11atm1e(KOMP)Wtsi HET Early adult 3.08×10-05

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

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Forepaw

15 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Anti-nuclear antibody assay

Images

6 Images

Eye Morphology

Images Ophthalmoscopy

6 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 106 images

View all 8 images

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
Leukodystrophy, Hypomyelinating, 24
Flexion contracture, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, B l... OMIM:619851
Idiopathic Pulmonary Fibrosis
Clubbing of fingers, Pulmonary insufficiency ORPHA:2032
Deafness, Autosomal Dominant 84
OMIM:619810

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Buschke-Ollendorff Syndrome
Joint stiffness, Osteopoikilosis, Flexion contracture OMIM:166700
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Hypoplastic left heart, Thickened nuchal skin fold, Pulmonic steno... OMIM:618164
Catel-Manzke Syndrome
Clinodactyly of the 5th finger, Joint dislocation, Talipes equinovarus, Ulnar deviation of the 2n... OMIM:616145
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Upslanted palpebral fissure, Broad nasal tip, Oligohydram... OMIM:601927
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Abnormal coron... ORPHA:860
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, 2-3 toe syndactyly, Atrial septal defect, Cryptorchidism, Pulmonic... ORPHA:3304
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, 2-3 toe syndactyly, Talipes equinovarus, At... ORPHA:477817
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Bulbous nose, Bicuspid aortic valve, Short palpebral fissure, Pulmonic stenosis, Depressed nasal ... ORPHA:284169
Van Buchem Disease
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... OMIM:239100
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia, Increased bone mineral density, Craniosynostosis, Ric... OMIM:241520
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Osteopenia, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Premature thelarche, Abnormal hand morphology, Ventricular septal defect, Type I diabetes mellitu... ORPHA:371428
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy, Steatorrhea, Decreased HDL cholesterol concentration, A... OMIM:615558
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Transaldolase Deficiency
Telangiectasia, Atrial septal defect, Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Coarctation... ORPHA:101028
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Broad phalanx, Pectus excavatum, Hypertrichosis, Atrioventricu... ORPHA:508498
Dysplasia Of Head Of Femur, Meyer Type
Multicentric femoral head ossification, Delayed femoral head ossification, Limited hip movement, ... ORPHA:168621
Phaver Syndrome
Myelomeningocele, Depressed nasal bridge, Broad hallux phalanx, Camptodactyly of finger, Coarctat... ORPHA:2876
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Atrial septal defect, Pulmonic stenosis, Coarctation of aorta, Cholesta... OMIM:614300
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Craniofaciofrontodigital Syndrome
Hypertrichosis, Stroke, Anomalous branches of internal carotid artery, Finger joint hypermobility... ORPHA:363705
Lethal Congenital Contracture Syndrome 10
Torticollis, Narrow chest, Thoracic scoliosis, Talipes equinovarus, Adducted thumb, Hypoplasia of... OMIM:617022
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Low anterior ha... OMIM:301022
Mosaic Trisomy 1
Depressed nasal bridge, 2-3 finger syndactyly, Finger clinodactyly, Ventricular septal defect, He... ORPHA:1692
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Craniosynostosis, Arachnodactyly, Coarctation of aorta, T... ORPHA:261243
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... OMIM:606003
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short toe, Clinodactyly of the 5th finger, Pectus excavatum, Prominent sternum, Pulmonic stenosis... OMIM:617877
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Rod-cone dystrophy, Osteoporosis, Increased bone... OMIM:136300
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... OMIM:615779
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Coarctation of aorta, Ethmoidal encephalocele, Abno... ORPHA:280195
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Cryptorchidism, Talipes equinovarus, Oligohydramnios, Neo... OMIM:608104
Lowry-Maclean Syndrome
Widely patent coronal suture, Hydrocephalus, Corneal opacity, Convex nasal ridge, Congenital diap... ORPHA:2409
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Increased bone mineral density, Craniosynostosis ORPHA:178377
Coarctation Of Aorta
Coarctation of aorta, Hypoplastic left heart OMIM:120000
Cleft Palate, Cardiac Defects, And Mental Retardation
2-3 toe syndactyly, Short 2nd finger, Atrial septal defect, Secundum atrial septal defect, Sparse... OMIM:600987
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Sprengel anomaly, Supernumerary nipple, Tricuspid regurgitation, Atrioventricular canal defect, D... OMIM:618929
Peroxisome Biogenesis Disorder 3B
Rod-cone dystrophy, Steatorrhea, Osteoporosis, Retinal dystrophy, Hypocholesterolemia OMIM:266510
Rubinstein-Taybi Syndrome 1
Pectus excavatum, Prominent fingertip pads, Premature thelarche, Facial hypertrichosis, Broad hal... OMIM:180849
Thrombocytopenia-Absent Radius Syndrome
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... OMIM:274000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bulbous nose, Bicuspid aortic valve, Coarctation of aorta, Broad hallux, Broad thumb, Patent duct... OMIM:612474
Noonan Syndrome 2
Pectus excavatum, Sparse eyebrow, Atrioventricular canal defect, Pectus carinatum, Ventricular se... OMIM:605275
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Epicanthus, Long eyelashes, Patent ductus arteriosus,... OMIM:615502
Fg Syndrome Type 1
Hydrocephalus, Craniosynostosis, Limited elbow extension and supination, Downslanted palpebral fi... ORPHA:93932
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Isolated Osteopoikilosis
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... ORPHA:166119
Chylomicron Retention Disease
Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... OMIM:246700
Sclerosteosis
Optic atrophy, Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hy... ORPHA:3152
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Noonan Syndrome 10
Pectus excavatum, Sparse eyebrow, Pectus carinatum, Ventricular septal defect, Downslanted palpeb... OMIM:616564
Sotos Syndrome
Atrial septal defect, Sparse eyebrow, Enlarged naris, Muscular ventricular septal defect, Broad n... OMIM:117550
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Bulbous nose, Clinodactyly of the 5th finger, Supernumerary n... OMIM:618454
Sandestig-Stefanova Syndrome
Convex nasal ridge, Muscular ventricular septal defect, Prominent metopic ridge, Sparse medial ey... OMIM:618804
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Asymmetry of the thorax, Delayed cranial suture closure, Facial palsy, Del... ORPHA:2780
Phace Association
Anomalous branches of internal carotid artery, Optic nerve hypoplasia, Facial hemangioma, Congeni... OMIM:606519
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Coarctation of aorta, Bell-shaped thorax, Pulmonary arterial hypertension, ... OMIM:614857
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, 2-3 toe syndactyly, Atrial septal defect, Cryptorchidism, Holop... OMIM:264480
Jacobsen Syndrome
Microcornea, Ventricular septal defect, Downslanted palpebral fissures, Short nose, Cataract, Bon... ORPHA:2308
Sifrim-Hitz-Weiss Syndrome
Short clavicles, Atrial septal defect, Short palpebral fissure, Upslanted palpebral fissure, Hypo... OMIM:617159
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Myofibrillar Myopathy 11
Z-band streaming, Calf muscle hypertrophy, EMG: myopathic abnormalities, Increased variability in... OMIM:619178
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart OMIM:241550
Apert Syndrome
Hydrocephalus, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Shallow orbits, De... OMIM:101200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis OMIM:619398
Mosaic Variegated Aneuploidy Syndrome 2
Bulbous nose, Clinodactyly of the 5th finger, Atrial septal defect, Decreased response to growth ... OMIM:614114
Noonan Syndrome 9
Sparse eyebrow, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Downslanted p... OMIM:616559
Intermediate Osteopetrosis
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... ORPHA:210110
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Pectus excavatum, Sparse hair, Craniosynostosis, Coarse hair, Pectus carinatum, Ventricular septa... OMIM:617506
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Leukopenia, Refrac... OMIM:231095
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis ORPHA:3416
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Abnormality of cartilage of external ear, Hypo... ORPHA:3426
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Overlapping toe, Dysplastic corpus callosum, Atrial septal defect, Low hanging columella, Muscula... ORPHA:363444
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Convex nasal ridge, Genu varum, Downslanted palpebral fissures, Abnor... ORPHA:1110
Kaufman Oculocerebrofacial Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Sparse hair, Sparse eyebrow, Upslanted palp... OMIM:244450
Phace Syndrome
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Cataract, Aortic root ane... ORPHA:42775
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Chromosome 9P Deletion Syndrome
Clinodactyly of the 4th toe, Depressed nasal bridge, Hemangioma, Tapered finger, Heart murmur, Ve... OMIM:158170
Restrictive Dermopathy
Multiple joint contractures, Sparse hair, Sparse eyebrow, Short nail, Sparse or absent eyelashes,... ORPHA:1662
Ogden Syndrome
Hydrocele testis, Pectus excavatum, Sparse eyebrow, Depressed nasal bridge, Depressed nasal tip, ... OMIM:300855
Cardiomyopathy, Familial Hypertrophic, 4
Stroke, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle bran... OMIM:115197
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... ORPHA:2790
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Diaphyseal sclerosis, Papilledema, Optic atrophy, Craniofacial osteosclerosis... OMIM:122860
Charge Syndrome
Down-sloping shoulders, Hypoplasia of the ulna, Ventricular septal defect, Downslanted palpebral ... OMIM:214800
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Alg3-Cdg
Decreased liver function, Abnormality of the endocrine system, Macroglossia, Coarctation of the d... ORPHA:79321
Alg12-Cdg
Muscular ventricular septal defect, B lymphocytopenia, Sandal gap, Clinodactyly of the 5th finger... ORPHA:79324
Partial Atrioventricular Septal Defect
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... ORPHA:1330
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Mosaic Trisomy 16
Abnormal heart morphology, Single coronary artery origin, Atrial septal defect, Single umbilical ... ORPHA:1708
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Coarctation of aorta, Macular coloboma, Facial palsy, Interrupted aortic arch OMIM:107550
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Umbilical hern... ORPHA:1686
Congenital Gerbode Defect
Elevated right atrial pressure, Systolic heart murmur, Ventricular septal defect, Holosystolic mu... ORPHA:99095
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Gout, Osteoporosis, Hypertriglyceridemia, Hypercholesterolemia OMIM:610947
Acrocardiofacial Syndrome
Mitral stenosis, Joint dislocation, Finger syndactyly, Hyperthyroidism, Split foot, Atrial septal... ORPHA:2008
Methimazole Embryofetopathy
Abnormality of the thyroid gland, Coarctation of aorta, Hypothyroidism, Polyhydramnios, Ventricul... ORPHA:1923
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Slender finger, Muscular ventricular septal defect, Depressed nasal bridge, Delayed eruption of t... OMIM:619503
Kabuki Syndrome 2
Hirsutism, Atrial septal defect, Prominent fingertip pads, Atrioventricular canal defect, Pulmoni... OMIM:300867
Congenital Heart Defects And Skeletal Malformations Syndrome
Pectus excavatum, Atrial septal defect, Congenital diaphragmatic hernia, Arachnodactyly, Long nos... OMIM:617602
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis ORPHA:564003
Mosaic Variegated Aneuploidy Syndrome
Depressed nasal ridge, Stomach cancer, Downslanted palpebral fissures, Intestinal polyposis, Cata... ORPHA:1052
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Hydrocephalus, Anencephaly, Malformation of the hepatic ducta... OMIM:249000
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Increased hepatic glycogen content, Chronic hepatitis, Sudden cardiac death, Elevat... OMIM:614921
Microphthalmia, Syndromic 9
Atrial septal defect, Congenital diaphragmatic hernia, Multilobulated spleen, Pulmonic stenosis, ... OMIM:601186
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis OMIM:607634
Alagille Syndrome 1
Exocrine pancreatic insufficiency, Bulbous nose, Stroke, Band keratopathy, Hepatic failure, Long ... OMIM:118450
Heterotaxy, Visceral, 1, X-Linked
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atresia, Congenital hip dislo... OMIM:306955
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Mitral stenosis, Talipes equinovarus, Decreased response to growth hormone stimulation test, Low ... OMIM:617260
Mueller-Weiss Syndrome
Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Arthritis, Knee osteoa... ORPHA:566943
Long Qt Syndrome 16
Prolonged QTc interval, Patent ductus arteriosus after birth at term, Second degree atrioventricu... OMIM:618782
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, Abnormality of the humerus, Tet... ORPHA:3186
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Blackfan-Diamond Anemia
Absent thumb, Depressed nasal bridge, Nonimmune hydrops fetalis, Ventricular septal defect, Retic... ORPHA:124
Kleefstra Syndrome Due To 9Q34 Microdeletion
Abnormal cardiac septum morphology, Aortic valve stenosis, Macroglossia, Coarctation of aorta, Te... ORPHA:96147
Neu-Laxova Syndrome 1
Ablepharon, Micromelia, Small placenta, Ventricular septal defect, Cataract, Rocker bottom foot, ... OMIM:256520
Melorheostosis
Joint stiffness, Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in... ORPHA:2485
Halperin-Birk Syndrome
Talipes equinovarus, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Long ey... OMIM:618651
Scimitar Syndrome
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... ORPHA:185
Placental Insufficiency
Preeclampsia, Small placenta, Eclampsia, Abnormal umbilical cord blood vessel morphology, Abnorma... ORPHA:439167
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Sparse eyebrow, Femoral bowing, Micromelia, 11 pairs of ribs, Prolonged neonatal jaundice, Elbow ... OMIM:210710
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Clinodactyly of the 5th finger, Low anterior hairline, Delayed eruption of teeth, Small placenta,... ORPHA:73272
Axial Osteomalacia
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density OMIM:109130
Kleefstra Syndrome
Bicuspid aortic valve, Talipes equinovarus, Supernumerary nipple, Cryptorchidism, Macroglossia, U... ORPHA:261494
Blomstrand Lethal Chondrodysplasia
Depressed nasal bridge, Rhizomelia, Short nose, Cataract, Bowing of the long bones, Distal shorte... ORPHA:50945
Aorta Coarctation
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... ORPHA:1457
Meacham Syndrome
Ventricular septal defect, Single umbilical artery, Cardiac total anomalous pulmonary venous conn... OMIM:608978
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Encephalocraniocutaneous Lipomatosis
Tricuspid valve prolapse, Capillary hemangioma, Corneal opacity, Aortic valve stenosis, Abnormal ... ORPHA:2396
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Atrioventricular canal defect, Nonimmune hydrops fetalis, Ventricular septal defect, Single umbil... OMIM:265380
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect OMIM:212090
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Opitz Gbbb Syndrome
Craniosynostosis, Ventricular septal defect, Downslanted palpebral fissures, Aortic root aneurysm... ORPHA:2745
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Congenital diaphragmatic hernia, Hydrops fetalis, Coarctation of aorta, Bifid nose... ORPHA:268249
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Junctional ectopic tachycar... OMIM:309801
Oculoectodermal Syndrome
Atrial septal defect, Supernumerary nipple, Depressed nasal bridge, Limbal dermoid, Coarctation o... OMIM:600268
Dysplastic Cortical Hyperostosis
Abnormal cortical bone morphology, Increased bone mineral density, Splenomegaly ORPHA:2204
Pallister-Hall Syndrome
Central adrenal insufficiency, Depressed nasal ridge, Hypothalamic hamartoma, Atrioventricular ca... ORPHA:672
Mitochondrial Complex I Deficiency, Nuclear Type 36
Optic disc pallor, Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Prominent sternum, ... ORPHA:96334
Cardiospondylocarpofacial Syndrome
Bulbous nose, Muscular ventricular septal defect, Ventricular septal defect, Carpal synostosis, R... OMIM:157800
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Splenomegaly, Osteopetrosis, Hepatosplenomegaly, Reticulocytosis, Optic atro... OMIM:611490
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypoplasia, Ventricular septal defect, U... OMIM:600001
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Myhre Syndrome
Sparse hair, Ventricular septal defect, Broad ribs, Cataract, Laryngotracheal stenosis, Generaliz... OMIM:139210
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Diaphragmatic eventration, ... ORPHA:66634
Fanconi Anemia, Complementation Group B
Hydrocephalus, Absent thumb, Hypergonadotropic hypogonadism, Aplastic anemia, Coarctation of aort... OMIM:300514
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... OMIM:616834
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Short clavicles, Hepatomegaly, Splenomegaly, Postaxial polydactyly, Depressed nasal... OMIM:617088
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Splenomegaly, Arthritis, Anemia ORPHA:37748
Diamond-Blackfan Anemia 1
Absent thumb, Depressed nasal ridge, Hypoplasia of the radius, Tricuspid stenosis, 11 pairs of ri... OMIM:105650
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Hepatomegaly, Depressed nasal bridge, Micromelia, Hammertoe, Ventricular septal de... OMIM:270400
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Cyst of the ductus choledochus, Atrioventricular canal defect, Broad nasal tip, Coar... OMIM:619480
Robinow Syndrome
Tricuspid atresia, Broad nasal tip, Depressed nasal bridge, Ventricular septal defect, Short nose... ORPHA:97360
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Osteopetrosis, Optic atrophy, Anemia, Thrombocytopenia OMIM:615085
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Hardikar Syndrome
Hepatomegaly, Hepatic failure, Cholestasis, Ventricular septal defect, Umbilical hernia, Prolonge... OMIM:301068
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Osteomyelitis, Increased bone mineral density, Splenomegaly, Craniosynostosis, Oste... OMIM:259700
Williams Syndrome
Cholelithiasis, Abnormal cardiac septum morphology, Pectus excavatum, Stroke, Blue irides, Abnorm... ORPHA:904
Albers-Schönberg Osteopetrosis
Abnormal leukocyte morphology, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Hypo... ORPHA:53
Maternal Phenylketonuria
Double outlet right ventricle, Hypoplastic left heart, Brachydactyly, Coarctation of aorta, Tetra... ORPHA:2209
Nicolaides-Baraitser Syndrome
Enlarged joints, Bulbous nose, Hypertrichosis, Sparse hair, Sparse medial eyebrow, Dry hair, Down... OMIM:601358
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Thick eyebrow, Pectus carinatum, Radioulnar synostosis, Abnormal ... ORPHA:3268
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... OMIM:166600
8Q24.3 Microdeletion Syndrome
Exocrine pancreatic insufficiency, Pectus excavatum, Abnormal cricoid cartilage morphology, Atrio... ORPHA:508488
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... OMIM:144750
Paget Disease Of Bone 5, Juvenile-Onset
Recurrent fractures, Increased bone mineral density, Retinal degeneration, Hydroxyprolinemia, Ost... OMIM:239000
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Abnormal coronary artery morphology, R... ORPHA:980
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Intrinsic hand muscle atrophy, Dysplastic corpus callosum, Low anterior hairline, Muscular ventri... OMIM:618569
Holt-Oram Syndrome
Anomalous pulmonary venous return, Pectus excavatum, Abnormal clavicle morphology, Absent thumb, ... ORPHA:392
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Total... ORPHA:261183
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Coarctation of aorta, Postaxial hand polydactyly, Broad hallux, Hamartoma ... OMIM:217085
Fetal Akinesia Deformation Sequence 1
Hydrocephalus, Elbow ankylosis, Depressed nasal tip, Small placenta, Rocker bottom foot, Thoracic... OMIM:208150
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Talipes equinovarus, Macroglossia, Reduced alpha/beta synthesis ratio, Depressed nasal bridge, Hy... OMIM:301040
Greenberg Dysplasia
Hepatomegaly, Anterior rib punctate calcifications, Depressed nasal ridge, Depressed nasal bridge... OMIM:215140
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Left ventricu... ORPHA:99050
Osteopetrosis, Autosomal Recessive 2
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Extramedullar... OMIM:259710
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Precocious puberty, Abnormality of toe, Abnormality of finger, Alopecia, Hemangi... OMIM:163200
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Distal Osteosclerosis
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis OMIM:126250
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... ORPHA:99413
Turner Syndrome
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... ORPHA:881
Mosaic Monosomy X
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... ORPHA:99228
Monosomy X
Hyperinsulinemia, Pectus excavatum, Short sternum, Alopecia, Irregular proximal tibial epiphyses,... ORPHA:99226
Bile Acid Synthesis Defect, Congenital, 1
Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia, Rickets OMIM:607765
Ctcf-Related Neurodevelopmental Disorder
Hypertrichosis, Prominent fingertip pads, Craniosynostosis, Broad nasal tip, Pulmonary hemorrhage... ORPHA:363611
Squalene Synthase Deficiency
Optic nerve hypoplasia, Increased circulating farnesol concentration, Hypocholesterolemia, Decrea... OMIM:618156
Kabuki Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Precocious puberty, Ptosis, Congenital diaphra... ORPHA:2322
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Sprengel anomaly, Hypertrichosis, Pectus excavatum, Muscular ventricular septal defect, Spina bif... OMIM:619227
Silver-Russell Syndrome Due To A Point Mutation
Ectrodactyly, Clinodactyly of the 5th finger, Syndactyly, Polydactyly, Short 5th finger, Small pl... ORPHA:397590
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal mitral valve morphology, Atrial septal defect, Mesomelic/rhizomelic limb s... ORPHA:1354
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Ventricular septal defect, Downslanted palpebral fissures, Neur... OMIM:163950
Trichohepatoenteric Syndrome 1
Hepatomegaly, Sparse hair, Depressed nasal ridge, Hepatic failure, Cholestasis, Abnormality of th... OMIM:222470
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Distal Trisomy 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Congestive heart failure, Atrial septal defect, Tricuspid regurgitation... ORPHA:439
Floating-Harbor Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Bulbous nose, Short 1st metacarpal, 11 pairs ... OMIM:136140
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Sparse scalp hair, Muscular ventricular septal defect, Adducted thumb, Brachyda... OMIM:620062
Pallister-Hall Syndrome
Hypothalamic hamartoma, Decreased circulating cortisol level, Depressed nasal bridge, Midline fac... OMIM:146510
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Aortic valve stenosis, Congenital diaphr... ORPHA:3097
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Flexion contracture, Short femur, Hypertrophic cardiomyopathy, Short humerus, Incre... ORPHA:17
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Abnormal aortic valve c... ORPHA:99094
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Abnormal subclavian artery morphology, Broad hallux, Ventricular septal defect,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Abnormal subclavian artery morphology, Broad hallux, Ventricular septal defect,... ORPHA:353277
Chylomicron Retention Disease
Retinopathy, Hypocholesterolemia, Acanthocytosis, Steatorrhea ORPHA:71
Holoprosencephaly
Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Ventricular septal defect, Optic atrop... ORPHA:2162
17Q11 Microdeletion Syndrome
Optic nerve glioma, Telangiectasia of the skin, Stroke, Gastrointestinal stroma tumor, Elevated c... ORPHA:97685
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... OMIM:619702
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Abnormal heart morphology, Coat hanger sign of ribs, Ventricular septal defect, ... ORPHA:254534
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Esophageal Atresia
Barrett esophagus, Maternal diabetes, Coarctation of aorta, Absence of stomach bubble on fetal so... ORPHA:1199
Feingold Syndrome Type 1
Tricuspid atresia, Abnormal heart morphology, Clinodactyly of the 5th finger, 2-3 toe syndactyly,... ORPHA:391641
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Reduced bone mineral density, Peripheral ... ORPHA:891
Mungan Syndrome
Tricuspid regurgitation, Barrett esophagus, Pulmonic stenosis, Abnormality of the autonomic nervo... OMIM:611376
Diabetic Embryopathy
Hydrocephalus, Single umbilical artery, Aplasia/Hypoplasia of the abdominal wall musculature, Tet... ORPHA:1926
8P23.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, Downslanted pa... ORPHA:251071
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Overlapping toe, Flexion contracture of finger, Pectus excavatum, Prominent ster... ORPHA:254528
Immunodeficiency 69
Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thr... OMIM:618963
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Pectus excavatum, Microcornea, Thoracic kyphoscoliosis, Aortic dissection, Hip subluxation, Limb ... ORPHA:1900
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Hepatomegaly, Atrial septal defect, Hemangioma, Hydrops fetalis... ORPHA:90308
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Decreased response to growth ... OMIM:220210
Carpenter Syndrome 1
Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Microcornea, Vent... OMIM:201000
Osteosclerotic Metaphyseal Dysplasia
Clavicular sclerosis OMIM:615198
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Broad hallux, Ventricular septal defect, Cataract, Meningioma, Patellar dislocation, Abnormal hea... ORPHA:353281
Maternal Uniparental Disomy Of Chromosome 4
Rod-cone dystrophy, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Pig... ORPHA:96180
Wrinkly Skin Syndrome
Premature rupture of membranes, Coxa vara, Hypoplasia of the musculature, Talipes equinovarus, Pe... OMIM:278250
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Pectus excavatum, Depressed nasal tip, Pulmonary artery sling, Delayed eruption... ORPHA:261552
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Hypoplastic left heart, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Met... OMIM:618748
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Brittle hair, Alopecia, Upslanted palpebral fissure, Depressed nasal bridge... ORPHA:75389
Alagille Syndrome
Short distal phalanx of finger, Telangiectasia of the skin, Peripheral pulmonary artery stenosis,... ORPHA:52
Isolated Klippel-Feil Syndrome
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ve... ORPHA:2345
Restrictive Dermopathy 1
Sparse eyebrow, Short nail, Depressed nasal bridge, Spontaneous chorioamniotic separation, Rocker... OMIM:275210
45,X/46,Xy Mixed Gonadal Dysgenesis
Pectus excavatum, Streak ovary, Bilateral cryptorchidism, Prolonged QT interval, Decreased serum ... ORPHA:1772
Floating-Harbor Syndrome
Enlarged joints, Broad nasal tip, Long nose, 11 pairs of ribs, Broad fingertip, Humeral pseudarth... ORPHA:2044
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Tetralogy of Fallot, Ventricular septal defect, Abnormality of t... ORPHA:1166
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Brachydactyly, Wide nasal bridge, Short thumb, Limi... ORPHA:401935
Kagami-Ogata Syndrome
Hepatomegaly, Depressed nasal bridge, Ventricular septal defect, Diastasis recti, Short palpebral... OMIM:608149
Fanconi Anemia
Abnormality of femur morphology, Arteriovenous malformation, Hydrocephalus, Absent testis, Abnorm... ORPHA:84
Exudative Vitreoretinopathy 1
Recurrent fractures, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachm... OMIM:133780
Trisomy 13
Narrow chest, Ectrodactyly, Capillary hemangioma, Atrial septal defect, Hydrops fetalis, Postaxia... ORPHA:3378
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Hepatomegaly, Severe B lymphocytopenia, Coarse hair, B lymphocytopenia, Pancreati... ORPHA:83617
Heterotaxy, Visceral, 5, Autosomal
Double outlet right ventricle, Atrial septal defect, Double inlet left ventricle, Atrioventricula... OMIM:270100
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Supraumbilical raphe, Coarctation of aorta, Cavernous hemangioma of the face, Bifid sternum, Righ... OMIM:140850
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Incre... OMIM:259720
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, Ventricular septal defect, Underdeveloped nasal alae, Blepharophi... ORPHA:2516
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Increased bone mineral density, Joint hypermobility OMIM:614856
Chondrodysplasia, Blomstrand Type
Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis OMIM:215045
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Kabuki Syndrome 1
Hydrocephalus, Prominent fingertip pads, Sparse eyebrow, Premature thelarche, Depressed nasal tip... OMIM:147920
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Pectus excavatum, Depressed nasal tip, Pulmonary artery sling, Delayed eruption... ORPHA:261537
Buschke-Ollendorff Syndrome
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... ORPHA:1306
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Anemia OMIM:612840
Sickle Cell Anemia
Increased mean corpuscular volume, Osteomyelitis, Leukocytosis, Hypochromic anemia, Persistence o... ORPHA:232
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Increased bone mineral density, Retinal detachment, Delayed patellar ... ORPHA:163649
Majeed Syndrome
Osteomyelitis, Increased bone mineral density, Leukocytosis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Dysosteosclerosis
Recurrent fractures, Increased bone mineral density, Optic atrophy, Coarse metaphyseal trabecular... ORPHA:1782
2Q37 Microdeletion Syndrome
Short metacarpal, Sparse eyebrow, Depressed nasal bridge, Umbilical hernia, Clinodactyly of the 5... ORPHA:1001
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Arterial Tortuosity Syndrome
Telangiectases of the cheeks, Pectus excavatum, Convex nasal ridge, Aortic valve stenosis, Flexio... OMIM:208050
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Increased bone mineral density, Papilledema, Thickened cortex of long bones, Retina... OMIM:127000
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Patent ductus arteriosus, A... OMIM:600460
Atelosteogenesis, Type I
Aplasia/Hypoplasia of the ulna, Depressed nasal bridge, 11 pairs of ribs, Rhizomelia, Clubbing, M... OMIM:108720
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... ORPHA:3400
Aortic Valve Disease 2
Calcification of the aorta, Bicuspid aortic valve, Coarctation of aorta, Aortic aneurysm OMIM:614823
Kagami-Ogata Syndrome
Diastasis recti, Hepatoblastoma, Depressed nasal bridge, Coat hanger sign of ribs, Frontal hirsut... ORPHA:254519
Trisomy 1Q
Hydrocephalus, Congenital diaphragmatic hernia, Arachnodactyly, Depressed nasal bridge, Camptodac... ORPHA:261344
Diaphragmatic Hernia 4, With Cardiovascular Defects
Bulbous nose, Clinodactyly of the 5th finger, Hepatomegaly, Talipes equinovarus, 2-3 toe syndacty... OMIM:620025
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Abnormal left ventricular func... OMIM:132900
Gaucher Disease Type 1
Increased bone mineral density, Splenomegaly, Osteopenia, Leukopenia, Osteoarthritis, Pathologic ... ORPHA:77259
Apolipoprotein C-Ii Deficiency
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... OMIM:207750
Pseudohypoparathyroidism Type 1B
Hypocalcemia, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemic tetany, Hyperpho... ORPHA:94089
Mowat-Wilson Syndrome
Hydrocele testis, Abnormal cardiac septum morphology, Pectus excavatum, Depressed nasal tip, Pulm... ORPHA:2152
Renpenning Syndrome
Sprengel anomaly, Clinodactyly of the 5th finger, Pectus excavatum, Abnormal hairshaft morphology... ORPHA:3242
Keutel Syndrome
Short distal phalanx of finger, Alopecia, Depressed nasal bridge, Recurrent sinusitis, Calcificat... ORPHA:85202
Autosomal Dominant Cutis Laxa
Peripheral pulmonary artery stenosis, Corneal opacity, Talipes equinovarus, Genu recurvatum, Addu... ORPHA:90348
Abetalipoproteinemia
Abnormal circulating apolipoprotein concentration, Abnormality of retinal pigmentation, Hyperbili... ORPHA:14
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Familial Aortic Dissection
Carotid artery dilatation, Peripheral arterial stenosis, Abnormal left ventricular function, Stro... ORPHA:229
Pallister-Killian Syndrome
Sparse hair, Sparse eyebrow, Alopecia, Depressed nasal bridge, Congenital hip dislocation, 11 pai... OMIM:601803
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Hepatomegaly, Sparse hair, Depressed nasal ridge, Sparse eyeb... ORPHA:175
Fryns Syndrome
Short distal phalanx of finger, Abnormal cardiac septum morphology, Narrow chest, Clinodactyly of... ORPHA:2059
Potocki-Lupski Syndrome
Hypocholesterolemia OMIM:610883
Otopalatodigital Syndrome Type 1
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... ORPHA:90650
Autosomal Recessive Robinow Syndrome
Pectus excavatum, Alopecia, Depressed nasal bridge, Pectus carinatum, Ventricular septal defect, ... ORPHA:1507
Dextrocardia
Hydrocephalus, Congenital malformation of the great arteries, Neuroblastoma, Congenital hip dislo... ORPHA:1666
Short-Rib Thoracic Dysplasia 12
Hydrocephalus, Hepatomegaly, Anencephaly, Ventricular septal defect, Splenomegaly, Short ribs, Bo... OMIM:269860
Craniodiaphyseal Dysplasia
Depressed nasal bridge, Optic atrophy, Abnormal rib morphology, Diaphyseal thickening, Wide nasal... ORPHA:1513
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Pagod Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Hypoplastic left heart, Sudden car... ORPHA:991
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Rib fusion, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Situs... OMIM:613686
Abetalipoproteinemia
Retinopathy, Abetalipoproteinemia, Retinal degeneration, Acanthocytosis OMIM:200100
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... OMIM:610338
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Narrow chest, Abnormal clavicle morphology, Ventricular septal defect, Abnormal rib morphology, R... ORPHA:93267
Duane-Radial Ray Syndrome
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... OMIM:607323
Osteopetrosis, Autosomal Recessive 3
Diaphyseal sclerosis, Extramedullary hematopoiesis, Osteopetrosis, Hepatosplenomegaly, Optic nerv... OMIM:259730
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis ORPHA:517
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Ventricular septal defect, Polyhydramnios, Abnormal tri... ORPHA:3405
Aortic Aneurysm, Familial Thoracic 9
Pectus excavatum, Thoracic aortic aneurysm, Arachnodactyly, Aortic tortuosity, Ascending aortic d... OMIM:616166
Hyperoxaluria, Primary, Type I
Optic neuropathy, Increased bone mineral density, Retinopathy, Pathologic fracture, Optic atrophy... OMIM:259900
Atelosteogenesis Type Ii
Broad phalanx, Facial midline hemangioma, Micromelia, Upper limb undergrowth, Rhizomelic arm shor... ORPHA:56304
Idiopathic Congenital Hypothyroidism
Decreased circulating T4 concentration, Facial edema, Macroglossia, Delayed proximal femoral epip... ORPHA:95717
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... OMIM:605814
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the abdominal wall musculature, Symphalangism affecting t... ORPHA:2990
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Cervical lymphadenopathy, Hypergonadotropic hypogona... OMIM:602782
Tetrasomy 9P
Abnormal mitral valve morphology, Hydrocephalus, Bulbous nose, Abnormal cardiac septum morphology... ORPHA:3310
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Giant Axonal Neuropathy
Abnormality of the pituitary gland, Talipes equinovarus, Woolly hair, Abnormal hand morphology, G... ORPHA:643
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Stroke, Subarachnoid hemorrhage, Aortic dissection, Aortic root aneurysm, Transient ischemic atta... ORPHA:91387
Diastrophic Dysplasia
Joint stiffness, Camptodactyly of finger, Joint hyperflexibility, Increased bone mineral density ORPHA:628
22Q11.2 Deletion Syndrome
Cholelithiasis, Tricuspid atresia, Hydrocephalus, Bulbous nose, Ventricular septal defect, Optic ... ORPHA:567
Combined Pituitary Hormone Deficiencies, Genetic Forms
Depressed nasal ridge, Anterior pituitary agenesis, Abnormal prolactin level, Hypogonadotropic hy... ORPHA:95494
Familial Bicuspid Aortic Valve
Bicuspid aortic valve, Aortic valve calcification, Aortic valve stenosis, Hypoplastic left heart,... ORPHA:402075
Limb Body Wall Complex
Hydrocephalus, Lens subluxation, Depressed nasal bridge, Aplasia of the proximal phalanges of the... ORPHA:2369
Schimke Immunoosseous Dysplasia
Bulbous nose, Stroke, Depressed nasal bridge, Coarse hair, Hypoplasia of the capital femoral epip... OMIM:242900
Charge Syndrome
Abnormal cardiac septum morphology, Depressed nasal bridge, Delayed eruption of teeth, Optic atro... ORPHA:138
Autoimmune Hypoparathyroidism
Hypocalcemia, Increased bone mineral density, Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemi... ORPHA:36913
Spondyloepiphyseal Dysplasia Tarda
Increased bone mineral density, Abnormally ossified vertebrae, Stiff knee, Limited elbow movement... ORPHA:93284
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Cinca Syndrome
Elevated circulating C-reactive protein concentration, Leukocytosis, Papilledema, Eosinophilia, H... OMIM:607115
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Cantú Syndrome
Long eyelashes, Broad ribs, Umbilical hernia, Abnormal metaphysis morphology, Cardiomegaly, Short... ORPHA:1517
Mosaic Trisomy 14
Narrow chest, Camptodactyly of finger, Abnormal rib morphology, Anteverted nares, Cryptorchidism,... ORPHA:1703
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Craniosynostosis, Atrioventricular canal defect, Shallow orbits, Ventricular septal defect, Abnor... ORPHA:453499
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Steatorrhea, Rod-cone dystrophy, Osteopenia, Thrombocytosis, Hypocholesterol... OMIM:212065
De Barsy Syndrome
Pectus excavatum, Sparse hair, Congenital hip dislocation, Delayed eruption of teeth, Ventricular... ORPHA:2962
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Short nose, Thoracic hypoplasia, Cardiomegaly, Single umbilical artery... OMIM:616897
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Increased bone mineral density ORPHA:1237
Achondrogenesis Type 1B
Narrow chest, Talipes equinovarus, Thickened nuchal skin fold, Hydrops fetalis, Micromelia, Abnor... ORPHA:93298
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Heart murmur, Optic atrophy, Umbilical hernia, Increased size o... ORPHA:217085
Hurler Syndrome
Angina pectoris, Hydrocephalus, Abnormal clavicle morphology, Hepatomegaly, Depressed nasal bridg... ORPHA:93473
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Smith-Lemli-Opitz Syndrome
Atrioventricular canal defect, Advanced eruption of teeth, Ulnar deviation of finger, Ventricular... ORPHA:818
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal mitral valve morphology, Heart murmur, Optic atrophy, Umbilical hernia, Increased size o... ORPHA:217093
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... ORPHA:75564
Prune Belly Syndrome
Pectus excavatum, Talipes equinovarus, Atrial septal defect, Congenital hip dislocation, Aplasia ... ORPHA:2970
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Anomalous pulmonary venous return, Congenital diaphragmatic hernia, Depressed nasal b... ORPHA:2311
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Hepatomegaly, Optic atrophy, Umbilical hernia, Abnormal heart m... ORPHA:580
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Marcus-Gunn Syndrome
Abnormality of the sense of smell, Coloboma, Abnormal fifth cranial nerve morphology, Choanal atr... ORPHA:91412
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Weill-Marchesani Syndrome 2
Depressed nasal bridge, Shallow orbits, Ventricular septal defect, Iridodonesis, Broad ribs, Cata... OMIM:608328
Metaphyseal Dysplasia, Braun-Tinschert Type
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... ORPHA:85188
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Abnormal rib morphology, Hydrocephalus, Agenesis of corpus callosum, Chorioretinal coloboma OMIM:300864
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Atrial septal defect, Supernumerary nipple, Short ribs, Congenital h... ORPHA:2519
Craniofacial Microsomia
Hydrocephalus, Hypoplasia of facial musculature, Partial duplication of thumb phalanx, Upper eyel... OMIM:164210
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Camurati-Engelmann Disease
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Diaphyseal sclerosis, Increa... OMIM:131300
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Hypoplastic left heart, Micromelia, Ventricular septal defect, Abnormal rib morphology, Cataract,... ORPHA:2772
Congenital Disorder Of Glycosylation, Type Iig
Talipes equinovarus, Cryptorchidism, Upslanted palpebral fissure, Small hand, Left ventricular hy... OMIM:611209
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Pectus excavatum, Craniosynostosis, Shallow orbits, Pectus carinatum, Downslanted ... OMIM:182212
Cranioectodermal Dysplasia 2
Pectus excavatum, Hepatomegaly, Sparse hair, Sparse eyebrow, Craniosynostosis, Depressed nasal br... OMIM:613610
10Q22.3Q23.3 Microduplication Syndrome
Abnormal rib morphology, Abnormal clavicle morphology, Tetralogy of Fallot, Upslanted palpebral f... ORPHA:276422
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... OMIM:619657
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatoblastoma, Umbilical hernia, Adrenocortical... ORPHA:116
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia ORPHA:3222
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... ORPHA:95716
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Broad metacarpals, Interphalangeal joint contracture of finger, ... OMIM:151200
Jacobsen Syndrome
Hydrocephalus, Pectus excavatum, Depressed nasal bridge, Microcornea, Ventricular septal defect, ... OMIM:147791
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, Thoracolumbar kyp... OMIM:130090
White Forelock With Malformations
Sprengel anomaly, Clinodactyly of the 5th finger, Atrial septal defect, Spina bifida occulta, Abn... ORPHA:2475
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Atrial septal defect, Depressed nasal ridge, Abnormal ossificatio... ORPHA:79345
Simpson-Golabi-Behmel Syndrome
Pectus excavatum, Hepatomegaly, Hepatoblastoma, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:373
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Heart murmur, Ventricular septal defect, Downslanted palpebral fissures, Interrupt... ORPHA:163979
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Abnormal carotid artery morphology, Craniosynostosis, Myocarditis, My... ORPHA:3342
Trisomy 18
Atrial septal defect, Congenital diaphragmatic hernia, Holoprosencephaly, Camptodactyly of finger... ORPHA:3380
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Mucopolysaccharidosis, Type Ivb
Pointed proximal second through fifth metacarpals, Hepatomegaly, Aortic valve stenosis, Prominent... OMIM:253010
1P36 Deletion Syndrome
Abnormal cardiac septum morphology, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ri... ORPHA:1606
Omodysplasia 1
Depressed nasal bridge, Hemangioma, Ventricular septal defect, Rhizomelia, Short nose, Umbilical ... OMIM:258315
Loeys-Dietz Syndrome 4
Torticollis, Flat cornea, Bicuspid aortic valve, Abnormal sternum morphology, Talipes equinovarus... OMIM:614816
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Clinodactyly of the 5th finger, Hypoplastic left heart, Upslanted palpebral fissure, Broad thumb,... ORPHA:2001
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... ORPHA:3384
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Periapical tooth abscess ORPHA:3352
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Exocrine pancreatic insufficiency, Hypoplastic tricuspid valve, Biliary atresia, Pancreatic hypop... ORPHA:2255
Basal Cell Nevus Syndrome
Hydrocephalus, Down-sloping shoulders, Basal cell carcinoma, Cataract, Ovarian carcinoma, Sprenge... OMIM:109400
Gaucher Disease
Joint stiffness, Recurrent fractures, Osteomyelitis, Elevated circulating C-reactive protein conc... ORPHA:355
Proteus-Like Syndrome
Hydrocephalus, Genu recurvatum, Abnormal pupil morphology, Exostoses, Splenomegaly, Hemangioma, A... ORPHA:2969
Metatropic Dysplasia
Narrow chest, Hydrocephalus, Clinodactyly of the 5th finger, Depressed nasal bridge, Camptodactyl... ORPHA:2635
Mucopolysaccharidosis, Type Vi
Hydrocephalus, Hepatomegaly, Prominent sternum, Depressed nasal bridge, Delayed eruption of teeth... OMIM:253200
Jeune Syndrome
Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Micromelia, Brachydactyl... ORPHA:474
Carey-Fineman-Ziter Syndrome
Talipes equinovarus, Aplasia of the pectoralis major muscle, Brachydactyly, Ulnar deviation of fi... ORPHA:1358
Igg4-Related Ophthalmic Disease
Keratitis, Pancreatitis, Abnormal morphology of bony orbit of skull, Non-Hodgkin lymphoma, Enlarg... ORPHA:449563
Dysosteosclerosis
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Optic atrophy, Sclerotic scapulae, Inc... OMIM:224300
Cooper-Jabs Syndrome
Congenital diaphragmatic hernia, Camptodactyly of finger, Ventricular septal defect, Abnormal rib... ORPHA:1488
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Sandal gap, Brushfield spots, Double ou... OMIM:190685
Nestor-Guillermo Progeria Syndrome
Sparse eyebrow, Alopecia, Left atrial enlargement, Delayed closure of the anterior fontanelle, Ri... OMIM:614008
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Broad nasal tip, Delayed erupti... OMIM:300166
Hyperlipoproteinemia, Type I
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... OMIM:238600
Poland Syndrome
Abnormality of the humerus, Pectus carinatum, Retinal hamartoma, Encephalocele, Sprengel anomaly,... ORPHA:2911
Sitosterolemia 1
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Arthritis, Chronic hemolytic ane... OMIM:210250
Stuve-Wiedemann Syndrome 1
Enlarged joints, Sparse hair, Femoral bowing, Ulnar deviation of finger, Short nose, Contracture ... OMIM:601559
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Finger syndactyly, Depressed nasal ridge, Encephalocele, Delayed cranial suture closure, Broad ha... ORPHA:2211
Homozygous Familial Hypercholesterolemia
Angina pectoris, Premature coronary artery atherosclerosis, Aortic atherosclerotic lesion, Sudden... ORPHA:391665
Microphthalmia, Syndromic 3
Optic nerve aplasia, Rib fusion, Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Optic ner... OMIM:206900
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Narrow chest, Hydrocephalus, Abnormality of hair texture, He... ORPHA:667
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Depressed nasal bridge, Elevated circ... OMIM:619534
Fibrochondrogenesis 1
Depressed nasal bridge, Megalocornea, Rhizomelia, Short nose, Posterior rib cupping, Dumbbell-sha... OMIM:228520
Tangier Disease
Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia ORPHA:31150
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hypertrichosis, Pectus excavatum, Craniosynostosis, Short nose, Long eyelashes, Sprengel anomaly,... OMIM:213980
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... OMIM:263300
Larsen Syndrome
Pectus excavatum, Short nail, Depressed nasal bridge, Shallow orbits, Pectus carinatum, Ventricul... OMIM:150250
Atelosteogenesis Type I
Narrow chest, Joint dislocation, Talipes equinovarus, Short femur, Abnormal ossification involvin... ORPHA:1190
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Facial hirsutism, Ventricular septal defect, Downslanted palpebral fissures, Short nose, Long eye... ORPHA:444077
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Optic atrophy, Hypocalcemia OMIM:618476
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Atrial septal defect, Short palpebral fissure, Small hand, Barrel... OMIM:300712
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... OMIM:601376
Velocardiofacial Syndrome
Hypoparathyroidism, Bulbous nose, Double aortic arch, Posterior embryotoxon, Tetralogy of Fallot,... OMIM:192430
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Hydrocephalus, Depressed nasal bridge, Downslanted palpebral ... ORPHA:90652
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Hirsutism, Atrial septal defect, Epicanthu... OMIM:619343
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Polycythemia, Papilledema, Thrombocytosis, Scler... ORPHA:2905
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Peripheral arterial stenosis, Ventricular septal defect, Distichiasis, Patent ductus arteriosus, ... OMIM:126320
Osteopathia Striata With Cranial Sclerosis
Hydrocephalus, Pectus excavatum, Ventricular septal defect, Broad ribs, Delayed closure of the an... OMIM:300373
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Hydrocephalus, Corneal opacity, Congenital diaphragmatic hernia, ... ORPHA:1647
Fibromuscular Dysplasia, Arterial
Intermittent claudication, Stroke, Renovascular hypertension, Myocardial infarction, Aortic disse... OMIM:135580
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Monosomy 9Q22.3
Hydrocephalus, Pectus excavatum, Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblast... ORPHA:77301
Vacterl/Vater Association
Abnormal cardiac septum morphology, Finger syndactyly, Congenital diaphragmatic hernia, Premature... ORPHA:887
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Keratitis, Absent eyebrow, Unilateral chest hypoplasia, Alopecia, Recurrent corneal erosions, Opa... OMIM:308205
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Weakness of facial musculature, Down-sloping shoulders, Ulnar deviat... OMIM:265000
Chromosome 1P36 Deletion Syndrome, Distal
Hydrocephalus, Depressed nasal ridge, Depressed nasal bridge, 11 pairs of ribs, Optic disc colobo... OMIM:607872
Yunis-Varon Syndrome
Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb, Sparse eyebrow, Tapered fi... ORPHA:3472
Fraser Syndrome 1
Hydrocephalus, Depressed nasal bridge, Cleft ala nasi, Abnormality of the thymus, Encephalocele, ... OMIM:219000
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Osteopetrosis, Abnormal trabecular bone morphology, Optic atrophy, Optic nerve comp... OMIM:612301
Lmna-Related Cardiocutaneous Progeria Syndrome
Sparse hair, Aortic atherosclerotic lesion, Papillary renal cell carcinoma, Basal cell carcinoma,... ORPHA:363618
Short Rib-Polydactyly Syndrome
Depressed nasal bridge, Micromelia, Hepatic cysts, Bowing of the long bones, Thoracic hypoplasia,... ORPHA:1505
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Hydrocephalus, Abnormal clavicle morphology, Hepatomegaly, Coar... ORPHA:581
Refractory Anemia With Excess Blasts