| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot |
OMIM:601127 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... |
OMIM:618723 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
| Spermatogenic Failure 75 |
|
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... |
OMIM:619949 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Ovarian Dysgenesis 3 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:614324 |
| Premature Ovarian Failure 17 |
|
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... |
OMIM:619146 |
| Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
| Premature Ovarian Failure 15 |
|
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... |
OMIM:618096 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... |
OMIM:619834 |
| Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:619203 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:125520 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Premature ovarian insufficiency, Clitoral hypertrophy, Secondary amenorrhea, ... |
OMIM:612964 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:605055 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility |
ORPHA:488191 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Oligomenorrhea, Menorrhagia, Female infertility |
OMIM:615555 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Hypothyroidism, Decreased ... |
OMIM:612885 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... |
OMIM:273250 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Premature Ovarian Failure 1 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation |
OMIM:311360 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Ventricular Septal Defect 1 |
|
Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent... |
OMIM:614429 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu... |
OMIM:617912 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ... |
OMIM:615779 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... |
OMIM:618187 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
| 46,Xy Sex Reversal 1 |
|
Absence of secondary sex characteristics, Gonadal dysgenesis, Abnormal female external genitalia ... |
OMIM:400044 |
| Alzheimer Disease 9, Susceptibility To |
|
Cerebral cortical atrophy, Hippocampal atrophy, Neurofibrillary tangles |
OMIM:608907 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, El... |
OMIM:300068 |
| 46,Xy Sex Reversal 5 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... |
OMIM:613080 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis, Omphalocele |
ORPHA:85174 |
| Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:614432 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Aneurysm Of Interventricular Septum |
|
Abnormal ventricular septum morphology, Vascular dilatation |
OMIM:105805 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar... |
OMIM:613854 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Brachyolmia, Maroteaux Type |
|
Abnormal form of the vertebral bodies, Short thorax, Scoliosis, Pectus excavatum, Platyspondyly |
ORPHA:93302 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Tricuspid Atresia |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for... |
ORPHA:1209 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
| Lymphatic Malformation 14 |
|
Lymphedema |
OMIM:620602 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax |
ORPHA:93304 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot |
OMIM:617992 |
| Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
| Conotruncal Heart Malformations |
|
Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ... |
OMIM:217095 |
| Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va... |
OMIM:109730 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes |
OMIM:606688 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Pulmonary artery stenosis, Peripheral arterial stenosis |
OMIM:185500 |
| Lissencephaly 1 |
|
Dilation of Virchow-Robin spaces, Agyria, Gray matter heterotopia, Pachygyria, Subcortical band h... |
OMIM:607432 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula... |
OMIM:231060 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly, Intraut... |
OMIM:615411 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Ischemic stroke, Abnormal bleeding, Dilatation of the cerebral artery, Transient ischemic attack,... |
ORPHA:284388 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot... |
OMIM:614779 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... |
ORPHA:90793 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
| Spastic Paraplegia 25, Autosomal Recessive |
|
Spastic paraplegia, Back pain, Spinal cord compression |
OMIM:608220 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Prolactin Deficiency, Isolated |
|
Infertility, Reduced circulating prolactin concentration, Irregular menstruation |
OMIM:264110 |
| Isolated Klippel-Feil Syndrome |
|
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... |
ORPHA:2345 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck |
OMIM:608681 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... |
ORPHA:261529 |
| Sprengel Deformity |
|
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... |
OMIM:184400 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Intervertebral space narrowing, Pectus carinatum, Scoliosis, Thoracic kyphosis, Irregular vertebr... |
OMIM:609223 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... |
OMIM:609813 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul... |
OMIM:617205 |
| Dementia, Lewy Body |
|
Lewy bodies |
OMIM:127750 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... |
OMIM:277300 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Absence of secondary sex characteristics, Testicular gonadoblastoma, Abnormal la... |
ORPHA:251510 |
| Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:606889 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Hyd... |
OMIM:613686 |
| Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... |
OMIM:278850 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Autosomal Dominant Coarctation Of Aorta |
|
Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept... |
ORPHA:1455 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Femur fracture, Sacral dimple, Spina bifida occulta, Scoliosis, Subdural hemorrhage, Kyphosis, Co... |
OMIM:618291 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Narrow chest, Abnormal rib morphology, Omphalocele, Platyspondyly, ... |
ORPHA:93267 |
| Moderate Hemophilia A |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Gingi... |
ORPHA:169805 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Lewy bodies, Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:616840 |
| Familial Cervical Artery Dissection |
|
Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Facial palsy, Recurrent cereb... |
ORPHA:36382 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Rocker bottom foot, Cerebral atrophy, Death in infancy, Micrognathia, Joint contracture, Lateral ... |
OMIM:618266 |
| Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Aneurysm, Intracranial Berry, 12 |
|
Internal carotid artery dissection, Subarachnoid hemorrhage, Cerebral berry aneurysm, Arterial fi... |
OMIM:618734 |
| Dental Anomalies And Short Stature |
|
Amelogenesis imperfecta, Intervertebral space narrowing, Scoliosis, Narrow vertebral interpedicul... |
OMIM:601216 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Pectus carinatum, Scoliosis, Abnormal rib morphology |
ORPHA:3268 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Sprengel anomaly, Cervical ribs, Prune belly |
OMIM:601389 |
| Brachyolmia Type 1, Toledo Type |
|
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... |
OMIM:271630 |
| Schneckenbecken Dysplasia |
|
Lateral clavicle hook, Narrow chest, Short ribs, Narrow vertebral interpedicular distance, Anteri... |
OMIM:269250 |
| Hemophilia A |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Joint hemorrhage, Intracranial hemorrhage, In... |
ORPHA:98878 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art... |
OMIM:132900 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... |
ORPHA:2410 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart |
OMIM:614474 |
| Familial Aortic Dissection |
|
Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane... |
ORPHA:229 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
| Femoral-Facial Syndrome |
|
Abnormal fibula morphology, Ventriculomegaly, Scoliosis, Vertebral segmentation defect, Abnormal ... |
ORPHA:1988 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... |
ORPHA:90796 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi... |
OMIM:620294 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta |
OMIM:212090 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Kyphoscoliosis, Short long bone, Cerebellar atrophy, Broad femoral neck, Lateral ventricle dilata... |
OMIM:611209 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Streak ovary, Abnormal vagina ... |
ORPHA:168563 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus |
OMIM:126320 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Abno... |
ORPHA:1797 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Partial agene... |
OMIM:604213 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy |
OMIM:117300 |
| Acalvaria |
|
Hydrocephalus, Omphalocele, Spina bifida, Abnormality of neuronal migration, Holoprosencephaly |
ORPHA:945 |
| Caudal Duplication |
|
Vertebral segmentation defect, Bifid sacrum, Myelomeningocele, Omphalocele, Spina bifida, Abnorma... |
ORPHA:1756 |
| Thanatophoric Dysplasia Type 2 |
|
Abnormal metaphysis morphology, Platyspondyly, Narrow chest, Encephalocele, Short thorax, Hydroce... |
ORPHA:93274 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Thanatophoric Dysplasia |
|
Abnormal metaphysis morphology, Platyspondyly, Abnormal ilium morphology, Narrow chest, Patent du... |
ORPHA:2655 |
| Martsolf Syndrome 2 |
|
Brain atrophy, Decreased body weight, Camptodactyly, Camptodactyly of finger, Lateral ventricle d... |
OMIM:619420 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Dysosteosclerosis |
|
Short ribs, Broad femoral neck, Hypoplastic vertebral bodies, Delayed closure of the anterior fon... |
OMIM:224300 |
| Marshall-Smith Syndrome |
|
Kyphoscoliosis, Short mandibular rami, Prominent fingertip pads, Hypertension, Pectus excavatum, ... |
OMIM:602535 |
| Brachyolmia Type 1, Hobaek Type |
|
Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Pectus carinatum,... |
OMIM:271530 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Redundant skin, Facet joint arthrosis, Bruising susceptibility, ... |
OMIM:618000 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Brain atrophy, Scoliosis, Hemiatrophy, Cerebral cortical hemiatrophy, Lateral ventricle dilatation |
ORPHA:306669 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Myelo... |
ORPHA:66637 |
| Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:607822 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal hip bone morphology, Hyperlordos... |
ORPHA:2522 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:617028 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Congenital contracture, Cerebral cortical atrophy, Lateral ventricle dilatation, Degeneration of ... |
OMIM:607596 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Kniest Dysplasia |
|
Enlarged metaphyses, Short long bone, Dumbbell-shaped long bone, Joint stiffness, Flexion contrac... |
ORPHA:485 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Rhizomelic leg shortening, Redundant neck skin, Short ribs, Abnormal 5th... |
ORPHA:397715 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... |
OMIM:122600 |
| Atelosteogenesis, Type I |
|
Clubbing, Tibial bowing, Short metacarpal, Short humerus, Thoracic hypoplasia, Thoracic platyspon... |
OMIM:108720 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver... |
ORPHA:2790 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Ziegler-Huang Syndrome |
|
Anterior pituitary hypoplasia, Elevated circulating follicle stimulating hormone level, Hypogonad... |
OMIM:620501 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... |
OMIM:619897 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Internal Carotid Absence |
|
Subarachnoid hemorrhage, Cerebral ischemia, Dilatation of the cerebral artery |
ORPHA:981 |
| Complete Androgen Insensitivity Syndrome |
|
Delayed puberty, Blind vagina, Male infertility, Abnormal circulating follicle-stimulating hormon... |
ORPHA:99429 |
| Sub-Cortical Nodular Heterotopia |
|
Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca... |
ORPHA:101029 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Peripheral arterial stenosis, Retinal arteriolar constriction |
OMIM:124950 |
| Avascular Necrosis Of Femoral Head, Primary, 2 |
|
Platyspondyly |
OMIM:617383 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bell-shaped thorax, Vertebral compression fracture, Scoliosis, Short ribs, Central vertebral hypo... |
OMIM:602557 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... |
ORPHA:2311 |
| Boomerang Dysplasia |
|
Narrow chest, Abnormally ossified vertebrae, Omphalocele, Aplasia/Hypoplasia of the abdominal wal... |
ORPHA:1263 |
| Multiple Synostoses Syndrome 1 |
|
Proximal/middle symphalangism of 5th toe, Radial deviation of finger, Dislocated radial head, Pec... |
OMIM:186500 |
| Lissencephaly, X-Linked, 1 |
|
Postnatal growth retardation, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus cal... |
OMIM:300067 |
| Metatropic Dysplasia |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... |
ORPHA:2635 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Scoliosis, Thin ribs, Narrow vertebral interpedicular distance, Irregular vertebral endplates, Pl... |
OMIM:618395 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Clinodactyly of the 5th finger, Short thorax, Scoliosis, Pectus excavatum, Cutis laxa, Ovoid vert... |
OMIM:619451 |
| Fibrochondrogenesis |
|
Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Wide anterior fontanel, ... |
ORPHA:2021 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Sacral dimple, Short thorax, Anomalous origin of left coronary artery from the pulmonary artery, ... |
OMIM:618845 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Lewy bodies, Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:607485 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Beaking of vertebral bodies, Schmorl's node, Platyspondyly, Irregular vertebral endplates |
OMIM:604864 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P... |
OMIM:619702 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Edema, Pulmonary edema |
OMIM:178400 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Agenesis of corpus callosum |
ORPHA:238722 |
| Lissencephaly 3 |
|
Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc... |
OMIM:611603 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Stroke, Cerebral hemorrhage, Intracranial hemorrhage |
OMIM:105150 |
| Brain Small Vessel Disease 2 |
|
Polymicrogyria, Subcortical heterotopia, Intracranial hemorrhage |
OMIM:614483 |
| Partial Androgen Insensitivity Syndrome |
|
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... |
ORPHA:90797 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Fused cervical v... |
OMIM:609053 |
| Becker Nevus Syndrome |
|
Abnormal tibia morphology, Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, K... |
ORPHA:64755 |
| Aneurysm, Intracranial Berry, 2 |
|
Subarachnoid hemorrhage, Cerebral berry aneurysm |
OMIM:608542 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck |
OMIM:214300 |
| Glutamine Deficiency, Congenital |
|
Subependymal cysts, Bradycardia, Brain atrophy, Camptodactyly, Micromelia, Neonatal death, Flexio... |
OMIM:610015 |
| Ciliary Dyskinesia, Primary, 52 |
|
Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for... |
OMIM:620570 |
| Thanatophoric Dysplasia Type 1 |
|
Short greater sciatic notch, Redundant skin, Femoral bowing, Kyphosis, Joint stiffness, Ventricul... |
ORPHA:1860 |
| Atrial Septal Defect 2 |
|
Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ... |
OMIM:607941 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Poland Syndrome |
|
Short ribs, Hemivertebrae, Sprengel anomaly, Unilateral oligodactyly, Syndactyly, Rib fusion, Uni... |
OMIM:173800 |
| Osteogenesis Imperfecta, Type Ix |
|
Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Platyspondyly... |
OMIM:259440 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Moyamoya phenomenon, Premature coronary artery atherosclerosis, Aortic aneurysm, Ascending tubula... |
OMIM:611788 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Excessive wrinkled skin, Hydrocephalus, Scoliosis, Wormian bones, Redundant skin, Pec... |
OMIM:612940 |
| Congenital Pulmonary Lymphangiectasia |
|
Congestive heart failure, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonary... |
ORPHA:2414 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... |
ORPHA:40 |
| Kyphomelic Dysplasia |
|
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Undulat... |
ORPHA:1801 |
| Congenital Heart Block |
|
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... |
ORPHA:60041 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A... |
OMIM:618719 |
| Microlissencephaly |
|
Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per... |
ORPHA:1083 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot... |
OMIM:614980 |
| Slc35A2-Cdg |
|
Osteopenia, Cerebral atrophy, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus... |
ORPHA:356961 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Prolonged prothrombin time, Death in childhood, Scoliosis, Death in adolescence, Death in infancy... |
OMIM:619055 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Afibrinogenemia, Congenital |
|
Hematemesis, Abnormal bleeding, Epidural hemorrhage, Death in childhood, Gingival bleeding, Death... |
OMIM:202400 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cutaneous syndactyly, Tria... |
ORPHA:370010 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Pectus excavatum, Broad thumb, Short 5th finger, Overlapping toe, Ventriculomegaly, Hip dislocati... |
ORPHA:508498 |
| Isolated Hemihyperplasia |
|
Scoliosis, Myelomeningocele, Inguinal hernia, Asymmetry of the thorax |
ORPHA:2128 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar... |
OMIM:613751 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Omphalocele |
OMIM:258320 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... |
OMIM:615703 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Kyphoscoliosis, Platyspondyly, Vertebral wedging, Beaking of vertebral bodies |
OMIM:616583 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormal vertebral morphology |
ORPHA:163665 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Ankle flexion contracture, Bilateral talipes equinovarus, Short neck, Micrognathia, Failure to th... |
ORPHA:284417 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Proximal placement of thumb, Pulmona... |
OMIM:620113 |
| Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Scoliosis, Anterior rib cupping, Thoracic hypoplasia, Platyspondyly |
OMIM:602271 |
| Ring Chromosome 21 Syndrome |
|
Scoliosis, Holoprosencephaly, Syndactyly, Thoracic hemivertebrae, Fused thoracic vertebrae, Clino... |
ORPHA:1445 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Familial Afibrinogenemia |
|
Abnormal bleeding, Miscarriage, Gingival bleeding, Epistaxis, Cerebral hemorrhage |
ORPHA:98880 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Hip subluxation, Genu valgum, Platyspondyly, Narrow chest, Broad mid... |
OMIM:618853 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Cervical C2/C3 vertebral fusion, Dislocated radial head, Wrist flexion co... |
OMIM:305620 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Costochondral joint sclerosis, Enlargement of the costochondral junction, Pectus carinatum, Ovoid... |
OMIM:609052 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Bicoronal synostosis, Dandy-Walker malformation, Scoliosis, Right unilambdo... |
OMIM:616602 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Broad clavicles, Cutis laxa, Delayed skeletal maturation, Syndactyly, Joint hypermobility, Ventri... |
OMIM:151050 |
| Periventricular Nodular Heterotopia 1 |
|
Stroke, Gray matter heterotopia, Abnormality of neuronal migration, Cerebral hemorrhage, Patent d... |
OMIM:300049 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Multiple joint dislocation, Sandal gap, Enlarged metaphyses, Dislocated radial head, Pectus carin... |
OMIM:245600 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Lewy bodies |
OMIM:614251 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Parkinson Disease 21 |
|
Lewy bodies |
OMIM:616361 |
| Weaver Syndrome |
|
Radial deviation of finger, Hypoplastic iliac wing, Short ribs, Prominent fingertip pads, Limited... |
OMIM:277590 |
| Congenital Factor Xiii Deficiency |
|
Spontaneous hematomas, Post-partum hemorrhage, Oral cavity bleeding, Gingival bleeding, Delayed o... |
ORPHA:331 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio... |
OMIM:610338 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ... |
OMIM:618780 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Fused cervical vertebrae, Clinodactyly of the 5th finger, Tibial torsion, Finger... |
ORPHA:3320 |
| Pituicytoma |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... |
ORPHA:251623 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly |
OMIM:269630 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy... |
OMIM:108900 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Rocker bottom foot, Triphalangeal thumb, Brain atrophy, Dandy-Walker malformation, Calcaneovalgus... |
ORPHA:3078 |
| Immune Thrombocytopenia |
|
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Epistaxis, Cerebral hemorrhag... |
ORPHA:3002 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Scoliosis, Short middle phalanx of finger, Thoracic hemivertebrae, Brac... |
ORPHA:1436 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Lambdoidal craniosynostosis, Spina bifida occulta, Bicoronal synostosis, Dandy-Walker malformatio... |
OMIM:618736 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Dislocated radial head, Kyphosis, Arachnodactyly, Syndactyly, Umbilical herni... |
OMIM:265000 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Neurofibrillary tangles |
ORPHA:1020 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Pectus excavatum, Cutis laxa, Joint hypermobility, Hip dislocation, Dysplasia of ... |
OMIM:615349 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Gray matter heterotopia, Pachygyria |
ORPHA:1084 |
| Scarf Syndrome |
|
Abnormal form of the vertebral bodies, Pectus carinatum, Cutis laxa, Short neck, Short sternum, U... |
ORPHA:3134 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Pulmonary sequestration, Pectus excavatum, Lateral ventricle dilatation, Patent ductus arteriosus |
OMIM:618330 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Umbilical hernia, Wide anterior fontanel, Severe postnatal growth retardation, Omphalocele |
OMIM:275100 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Kyphoscoliosis, Barrel-shaped chest, Pectus carinatum, Hypoplasia of the odontoid process, Irregu... |
OMIM:184100 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Fused cervical vertebrae, Failure to thrive in infancy, Broad ribs, Flar... |
OMIM:612852 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Abnormal upper motor neuron morphology, Bone cyst, Lateral ventricle dilatation... |
OMIM:221770 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Proximal placement of thumb, Dandy-Walker malformation, Scoliosis, Hemiverte... |
OMIM:304050 |
| Macular Dystrophy, Dominant Cystoid |
|
Edema, Cystoid macular edema |
OMIM:153880 |
| Osteomesopyknosis |
|
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Aorta Coarctation |
|
Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve... |
ORPHA:1457 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax |
ORPHA:93283 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Butterfly vertebrae, Short 1st metacarpal, Ulnar bowing, Bowed humerus, Hypoplastic a... |
OMIM:620076 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Short finger, Tapered finger, Acrocyanosis |
OMIM:302000 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Lewy bodies |
OMIM:619133 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect... |
OMIM:177850 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Small for gestational age, Limb undergrowth, Flexion contracture, Agenesis of c... |
ORPHA:79243 |
| Partial Atrioventricular Septal Defect |
|
Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien... |
ORPHA:1330 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... |
OMIM:118100 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Global sys... |
OMIM:606842 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Scoliosis, Thoracic kyphosis, Micrognathia, Hip dysplasia |
ORPHA:530983 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Abnormal vertebral morphology, Vertebral compression fracture, Scolios... |
ORPHA:93352 |
| Greenberg Dysplasia |
|
Narrow chest, Abnormal form of the vertebral bodies, Anterior rib punctate calcifications, Abnorm... |
ORPHA:1426 |
| Thoracolaryngopelvic Dysplasia |
|
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral... |
OMIM:187760 |
| Fibrochondrogenesis 1 |
|
Long clavicles, Thin clavicles, Wide anterior fontanel, Thin ribs, Short ribs, Posterior vertebra... |
OMIM:228520 |
| Miller-Dieker Syndrome |
|
Growth delay, Lissencephaly, Omphalocele |
ORPHA:531 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Abnormal rib morphology, Omphalocele |
ORPHA:3035 |
| 16P13.11 Microduplication Syndrome |
|
Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def... |
ORPHA:261243 |
| Trigonocephaly 1 |
|
Lumbar hemivertebrae, Omphalocele |
OMIM:190440 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia |
OMIM:608097 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Absent phalangeal crease, Antecubital pte... |
OMIM:618469 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Abnormal sternum morphology, Pectus excavatum, Symphalangism affecting the phalanges of the hand,... |
ORPHA:2990 |
| Hypophosphatasia, Infantile |
|
Stillbirth, Unossified vertebral bodies, Recurrent respiratory infections, Metaphyseal cupping, S... |
OMIM:241500 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hydrocephalus, Metopic synostosis, Delayed cranial suture closure, Omphalocele, ... |
OMIM:175700 |
| Isolated Right Ventricular Hypoplasia |
|
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Right-to-lef... |
ORPHA:439 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Hydrocephalus, Dandy-Walker malformation, Pulmonic stenosis, Short sternum, Micrognathia, Agenesi... |
OMIM:257300 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Large for gestational age, Sacral dimple, Tapered toe, Clinodactyly o... |
ORPHA:544488 |
| Metatropic Dysplasia |
|
Kyphoscoliosis, Narrow greater sciatic notch, Relatively short spine, Short ribs, Flat acetabular... |
OMIM:156530 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Short middle phalanx of finger, Tho... |
OMIM:309620 |
| Malan Overgrowth Syndrome |
|
Slender long bone, Scoliosis, Pectus excavatum, Accelerated skeletal maturation, Lateral ventricl... |
ORPHA:420179 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Aplasia/Hypoplasia of the distal phalanges of ... |
OMIM:113000 |
| Parkinson Disease 4, Autosomal Dominant |
|
Lewy bodies |
OMIM:605543 |
| Circumvallate Placenta Syndrome |
|
Intracranial hemorrhage |
OMIM:215550 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Hydrocephalus, Abnormality of neuronal migration |
OMIM:618709 |
| Fibrodysplasia Ossificans Progressiva |
|
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... |
OMIM:135100 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Patent ductus arteriosus, Tracheobronchomalacia, Scoliosis, Dilated fourth ventricle, Recurrent p... |
OMIM:617751 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Hyperextensible skin, Recurrent joint dislocation, Congenital hip dislocation, Recurrent sinusiti... |
OMIM:130010 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital... |
ORPHA:325124 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration, Subcutaneous hemorrhage |
ORPHA:1980 |
| Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Ischemic stroke, Stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hem... |
ORPHA:136 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Scarf Syndrome |
|
Lambdoidal craniosynostosis, Barrel-shaped chest, Abnormal form of the vertebral bodies, Pectus c... |
OMIM:312830 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:249670 |
| Pituitary Adenoma 1, Multiple Types |
|
Increased circulating prolactin concentration, Pituitary growth hormone cell adenoma, Pituitary p... |
OMIM:102200 |
| Band Heterotopia |
|
Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent... |
OMIM:600348 |
| Sneddon Syndrome |
|
Ischemic stroke, Stroke, Hypertension, Facial palsy, Cerebral hemorrhage |
OMIM:182410 |
| Kbg Syndrome |
|
Finger clinodactyly, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed s... |
ORPHA:2332 |
| Scimitar Syndrome |
|
Mitral atresia, Abnormal heart morphology, Interrupted inferior vena cava with azygous continuati... |
ORPHA:185 |
| Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
| Dural Sinus Malformation |
|
Cerebellar hemorrhage, Vascular dilatation, Abnormal facial vein morphology, Arteriovenous fistul... |
ORPHA:97339 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... |
ORPHA:168558 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Cerebral corti... |
ORPHA:1394 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... |
OMIM:300845 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Cardiomyopathy, Thoracolumbar scoliosis, Micrognathia, Flexion c... |
OMIM:616549 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... |
ORPHA:289548 |
| Apert Syndrome |
|
Limited elbow movement, Pectus carinatum, Broad thumb, Syndactyly, Craniosynostosis, Ventriculome... |
OMIM:101200 |
| Tarp Syndrome |
|
Rocker bottom foot, Hypoplasia of the radius, Subdural hemorrhage, Pectus excavatum, Bilateral ta... |
OMIM:311900 |
| Holoprosencephaly 5 |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo... |
OMIM:609637 |
| Atrial Septal Defect 1 |
|
Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of... |
OMIM:108800 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Diastasis recti, Omphalocele, Coat hanger sign of ribs, Thoracic hypoplasia, Umbi... |
ORPHA:254534 |
| Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Hydrocephalus, Scoliosis, Hemivertebrae, Abnorm... |
ORPHA:377 |
| Congenital Factor V Deficiency |
|
Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleeding, Pr... |
ORPHA:326 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Vertebral wedging, Platyspondyly |
OMIM:617719 |
| Cach Syndrome |
|
Cerebral atrophy, T2 hypointense thalamus, Atrophy/Degeneration affecting the brainstem, Cerebell... |
ORPHA:135 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Osteogenesis Imperfecta |
|
Reduced bone mineral density, Abnormal femur morphology, Abnormal hip bone morphology, Abnormal f... |
ORPHA:666 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae, Meningocele |
ORPHA:3456 |
| Lymphatic Malformation 8 |
|
Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune hydrops fetalis |
OMIM:618773 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segm... |
ORPHA:1834 |
| 46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... |
ORPHA:243 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly, Postaxial hand polydactyly, Hyperextensible skin |
OMIM:615937 |
| Aarskog-Scott Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Hyperextensible skin, Genu recurvatum, ... |
ORPHA:915 |
| Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Hypoplastic frontal sinuses, Flared iliac wing, Fibular aplasia, Tarsal synosto... |
ORPHA:90652 |
| Becker Nevus Syndrome |
|
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs |
OMIM:604919 |
| Macs Syndrome |
|
Hyperextensible skin, Dilation of Virchow-Robin spaces, Aortic aneurysm, Scoliosis, Redundant ski... |
OMIM:613075 |
| Cerebral Amyloid Angiopathy, App-Related |
|
Cerebellar hemorrhage, Stroke, Tortuous cerebral arteries, Cerebral ischemia, Recurrent cerebral ... |
OMIM:605714 |
| Femoral-Facial Syndrome |
|
Limited elbow movement, Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Absent... |
OMIM:134780 |
| Pseudo-Torch Syndrome 2 |
|
Bradycardia, Petechiae, Thin ribs, Pleural effusion, Cerebral hemorrhage, Lateral ventricle dilat... |
OMIM:617397 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Hypothalamic hamartoma, Shortening of all distal phalanges of the fingers, Mesomeli... |
OMIM:146510 |
| Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Cervical C2/C3 vertebral fusion, Scoliosis, Short metacarpal, O... |
OMIM:617190 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy |
OMIM:610951 |
| Noonan Syndrome 14 |
|
Limited elbow extension, Cubitus valgus, Aortic regurgitation, Pectus carinatum, Scapular winging... |
OMIM:619745 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi... |
ORPHA:347 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Scoliosis, Hyperlordosis, Cerebellar atrophy, Kyphosis, Achilles tendon contracture, Ventriculome... |
OMIM:606612 |
| Alg13-Cdg |
|
Adducted thumb, Global brain atrophy, Abnormal lateral ventricle morphology, Decreased body weight |
ORPHA:324422 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Wormian bones, Congenital hip dislocation, Omphalocele |
OMIM:614450 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Pectus carinatum, Scoliosis, Thoracic kyphoscoliosis, 2-3 toe syndactyly, Mi... |
ORPHA:313892 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Primary Angiitis Of The Central Nervous System |
|
Stroke, Transient ischemic attack, Paraparesis, Hemiparesis, Ataxia, Parkinsonism, Intracranial h... |
ORPHA:140989 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Pectus carinatum, Scoliosis, Hyperlordosis, Anterior rib cupping, Hypoplasia of ... |
OMIM:184250 |
| 1P31P32 Microdeletion Syndrome |
|
Moyamoya phenomenon, Intraventricular hemorrhage |
ORPHA:401986 |
| Melnick-Needles Syndrome |
|
Narrow chest, Short thorax, Short clavicles, Scoliosis, Anisospondyly, Abnormal rib morphology, O... |
ORPHA:2484 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Short clavicles, Flat acetabular roof, Coarctation of aorta, Tetralogy ... |
OMIM:617159 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Hyperextensible skin, Scoliosis, Wormian bones, Pectus excavatum, Congenital hip dislocation, Cut... |
OMIM:219150 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Prolonged bleeding follo... |
OMIM:274000 |
| Orofaciodigital Syndrome Type 3 |
|
Dandy-Walker malformation, Thoracic kyphosis, Postaxial hand polydactyly, Pectus excavatum, Short... |
ORPHA:2752 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Neurodegeneration, Cerebellar atrophy, Lateral ventricle dilatation |
OMIM:615889 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Subluxation of the small joints of the hand, Pectus carinatum, Abnormal femoral h... |
ORPHA:536471 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Limitation of knee mobility, Dislocated radial head, Wrist flexion contra... |
ORPHA:1826 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Vertebral arch anomaly, Wide anterior fontanel, Broad ribs |
ORPHA:85184 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Lumbar scoliosis, Overweight... |
OMIM:617796 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Osteogenesis Imperfecta, Type Xv |
|
Scoliosis, Thin ribs, Platyspondyly |
OMIM:615220 |
| Non-Functioning Pituitary Adenoma |
|
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... |
ORPHA:91349 |
| Diastrophic Dysplasia |
|
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... |
ORPHA:628 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Scrotal hypospadias, Bifid scrotum, Decreased circulating dehydroepiandrosterone-sul... |
OMIM:250790 |
| Momo Syndrome |
|
Large for gestational age, Abnormal bone ossification, Femoral bowing, Short sternum, Obesity, La... |
ORPHA:2563 |
| Weaver Syndrome |
|
Abnormal metaphysis morphology, Sandal gap, Finger syndactyly, Scoliosis, Redundant skin, Joint s... |
ORPHA:3447 |
| Lymphatic Malformation 3 |
|
Lymphedema |
OMIM:613480 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Short palm, Lateral ventricle dilatation |
OMIM:300982 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
| Verheij Syndrome |
|
Cerebral atrophy, Small for gestational age, Scoliosis, Hemivertebrae, Short 5th finger, Truncus ... |
OMIM:615583 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Tibial bowing, Short distal phalanx of finger, Ventriculomegaly, Increased density of long bones,... |
OMIM:269150 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia |
ORPHA:352682 |
| Distal Deletion 10Q |
|
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Short metatarsal, Spina bifida occu... |
ORPHA:96148 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Short neck, Pectus excavatum, Omphalocele |
ORPHA:1707 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short sternum, Agenesis of corpus callosum, Umbilical hernia, Partial age... |
OMIM:222448 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Pectus carinatum, Cutis laxa, Aor... |
ORPHA:363705 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy,... |
ORPHA:77299 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:163976 |
| Multiple Pterygium Syndrome, X-Linked |
|
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Pulmonary hypoplasia... |
OMIM:312150 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Congenital diaphragmatic hernia, Abnormal scapula morphology, Omphalocele |
ORPHA:2141 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Hydrocephalus, Redundant skin, Patent ductus arteriosus, Short neck, Clinodactyly |
ORPHA:251046 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cerebral atrophy, Overlapping fingers, Left superior vena cava draining to coronary sinus, Finger... |
ORPHA:464738 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Congenital Factor Ii Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Excessive bleeding from superfici... |
ORPHA:325 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Lewy bodies, Cerebral atrophy, Neurofibrillary tangles |
OMIM:610217 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Abnormal vertebral morphology, Scoliosis, Failure to thrive, Hand polydactyly, Micrognathia, Obes... |
ORPHA:261197 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:1937 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Moyamoya phenomenon, Ischemic stroke, Delayed puberty, Coronary artery atherosclerosis, Hypertens... |
ORPHA:280679 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Purpura, Excessive bleeding from superficial cuts, Gingival bleeding... |
OMIM:273800 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Cerebral calcification, Intracerebral periventricular calcifications, Basal ganglia calcification... |
ORPHA:542310 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Pectus carinatum, Kyphosis, Thoracolumbar scoliosis, Hip contracture, Knee flexion contracture, P... |
OMIM:313420 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Broad 2nd toe, Arachnodactyly, Lateral ventricle dilatation, Long toe, Deviat... |
ORPHA:1692 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Inguinal hernia, Thin ribs, Diastasis recti, ... |
OMIM:608149 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cerebral atrophy, Dilated third ventricle, Dry skin, Kyphosis, Corpus callosum atrophy, Agenesis ... |
OMIM:619244 |
| Gerstmann-Straussler Disease |
|
Neurofibrillary tangles |
OMIM:137440 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Cerebral cortical atrophy, Lateral ventricle dilatation, Death in infancy |
OMIM:617668 |
| Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Stroke, Supraventricular tachycardia, Abnormal capillary physiology, Abnor... |
ORPHA:90064 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Anterior encephalocele, Scoliosis, Omphalocele |
OMIM:601357 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Lumbar scoliosis, Platyspondyly, Irregular vertebral endplates |
OMIM:612847 |
| Basal Cell Nevus Syndrome 1 |
|
Kyphoscoliosis, Polydactyly, Short 4th metacarpal, Short distal phalanx of the thumb, Vertebral w... |
OMIM:109400 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Dilated fourth ventricle, Lateral ventricle d... |
OMIM:613443 |
| Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Venous insufficiency, Scoliosis, Hemiparesis, Intracranial hemorrhage... |
ORPHA:624 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Rhizomelia, Narrow chest, Hydrocephalus, Wide anterior fontanel, Redund... |
OMIM:616482 |
| Hypoplastic Left Heart Syndrome 2 |
|
Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia |
OMIM:614435 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:2216 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Patent ductus arteriosus, Anterior pituitary hypoplasia, Hemivertebrae, Vert... |
OMIM:206900 |
| Snakebite Envenomation |
|
Abnormal bleeding, Respiratory paralysis, Tachycardia, Stroke, Gingival bleeding, Cerebral ischem... |
ORPHA:449285 |
| Fibrochondrogenesis 2 |
|
Bell-shaped thorax, Short ribs, Cupped ribs, Thoracic hypoplasia, Platyspondyly |
OMIM:614524 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Hyperextensibility of the finger joints, Cerebellar atroph... |
ORPHA:488635 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Cubitus valgus, Cervical C2/C3 vertebral fusion, Short metatarsal, Genu recurvatum, Limitation of... |
OMIM:151200 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:2578 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Hydrocephalus, Vertebral segmentation defect,... |
ORPHA:87 |
| White Sponge Nevus 2 |
|
Edema |
OMIM:615785 |
| Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Congenital finger flexion contractures, Kyphosis... |
ORPHA:536516 |
| Otopalatodigital Syndrome Type 1 |
|
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Increased bone mineral d... |
ORPHA:90650 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Redundant neck s... |
ORPHA:96334 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Pectus excavatum, Recurrent sinusitis, Joint hypermobility, Craniosynostosis, Overlapping toe, De... |
OMIM:213980 |
| Factor Xiii, A Subunit, Deficiency Of |
|
Spontaneous hematomas, Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, J... |
OMIM:613225 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Short finger, Multiple pterygia, Joint dislocation, Thin ribs, Micrognathia, Pulmonary hypoplasia... |
OMIM:253290 |
| Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Platyspondyly, Irregularity of vertebral bodies |
OMIM:609324 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal bone ossification, Reduced bone mineral density, Biconvex vertebral bodies, Pectus carin... |
ORPHA:93315 |
| Parkinson Disease 8, Autosomal Dominant |
|
Lewy bodies, Substantia nigra gliosis |
OMIM:607060 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Kyphoscoliosis, Normal pressure hydrocephalus, Genu valgum, Cubitus valgus, Abnormal thalamus mor... |
ORPHA:300570 |
| Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Vascular dilatation, Peripheral arteriovenous fistula, Gingival bleed... |
ORPHA:53719 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Pectus carinatum |
OMIM:616430 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Retinal arterial tortuosity, Pectus excavatum, Corpus callosum atrophy, Colpocephaly, Lateral ven... |
OMIM:620371 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Sneddon Syndrome |
|
Chorea, Tremor, Hypertension, Hemiparesis, Arterial stenosis, Intracranial hemorrhage |
ORPHA:820 |
| Turnpenny-Fry Syndrome |
|
Pectus carinatum, Thoracic kyphoscoliosis, Pectus excavatum, Delayed skeletal maturation, Promine... |
OMIM:618371 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Cyanosis, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cerebral atrophy, Congenital foot contractures, Bradycardia, Atrophy/Degeneration affecting the b... |
ORPHA:565624 |
| Perching Syndrome |
|
Cyanosis, Camptodactyly |
OMIM:617055 |
| Osteogenesis Imperfecta, Type Xvii |
|
Kyphoscoliosis, Intraventricular hemorrhage, Platyspondyly, Vertebral compression fracture |
OMIM:616507 |
| Semantic Dementia |
|
Brain atrophy |
ORPHA:100069 |
| Orofaciodigital Syndrome Iii |
|
Postaxial hand polydactyly, Pectus excavatum, Kyphosis, Short sternum, Postaxial foot polydactyly |
OMIM:258850 |
| Tarp Syndrome |
|
Rocker bottom foot, Finger syndactyly, Scoliosis, Pectus excavatum, Postaxial polydactyly, Short ... |
ORPHA:2886 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Scoliosis, Vocal cord paralysis |
ORPHA:640 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Omphalocele, Thoracic hypoplasia, Horizontal ribs |
OMIM:617895 |
| Momo Syndrome |
|
Delayed skeletal maturation, Obesity, Large hands, Short sternum, Short neck |
OMIM:157980 |
| Geroderma Osteodysplastica |
|
Beaking of vertebral bodies, Abnormal bone ossification, Platyspondyly, Hyperextensible skin, Ver... |
ORPHA:2078 |
| Methanol Poisoning |
|
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr... |
ORPHA:31825 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Scoliosis, Missing ribs, Rib fusion, Supernumerary ribs, Block vertebrae, Bi... |
ORPHA:50 |
| Cranioectodermal Dysplasia 4 |
|
Broad distal phalanx of finger, Narrow chest, Broad phalanx of the toes, Pectus excavatum, Cutis ... |
OMIM:614378 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Lateral ventricle dilatation |
ORPHA:141091 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:609441 |
| Familial Cerebral Saccular Aneurysm |
|
Aortic root aneurysm, Hypertension, Transient ischemic attack, Aortic dissection, Subarachnoid he... |
ORPHA:231160 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal lung lobation, Abnormal thumb morphology, Triphalangeal thumb, Proximal placement of thu... |
ORPHA:1120 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation, Ankle clonus |
ORPHA:363654 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Enlarged metaphyses, Femoral bowing, Bifid first metacarpal, Short metacarpal, Hypertension, Deat... |
OMIM:210710 |
| Duane-Radial Ray Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Fused cervical vertebrae,... |
OMIM:607323 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head,... |
OMIM:268310 |
| Adams-Oliver Syndrome 2 |
|
Cerebral atrophy, Hydrocephalus, Absent distal phalanges, Micrognathia, Short middle phalanx of f... |
OMIM:614219 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Spondylolisthesis, Pectus carinatum, Craniosynostosis, Cervical spinal canal stenosis, Tarsal syn... |
OMIM:178110 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Global brain atrophy, Recurrent lower respiratory tract infections, Sandal gap, Scoliosis, 2-3 to... |
OMIM:619229 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormal mitral valve morphology, Cerebral artery atherosclerosis, Arterial stenosis, Coronary ar... |
ORPHA:1192 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Arterial Tortuosity Syndrome |
|
Pectus carinatum, Hypertension, Pectus excavatum, Aortic tortuosity, Cutis laxa, Arachnodactyly, ... |
OMIM:208050 |
| Fibronectin Glomerulopathy |
|
Hypertension, Cerebral hemorrhage |
ORPHA:84090 |
| Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Meningocele, Hydrocephalus, Aortic aneurysm, Scoliosis, Wormian bones, ... |
OMIM:130720 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Disproportionate shortening of the tibia, Narrow chest, Postaxial polysynd... |
OMIM:263520 |
| Niemann-Pick Disease, Type C1 |
|
Neurofibrillary tangles |
OMIM:257220 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se... |
OMIM:619657 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Dandy-Walker malformation, Clubbing, Pleural effusion, Failure to thrive, Lateral ventricle dilat... |
OMIM:618606 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... |
OMIM:300869 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Premature ovarian insufficiency, Lacrimal gland aplasia, Hypoplasia of the uterus, Decreased circ... |
ORPHA:572333 |
| Buerger Disease |
|
Vasculitis, Intermittent claudication, Raynaud phenomenon, Acrocyanosis, Arterial occlusion, Live... |
ORPHA:36258 |
| Mucopolysaccharidosis, Type Iva |
|
Grayish enamel, Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Cervical myelopathy, Ingui... |
OMIM:253000 |
| Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619101 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt... |
OMIM:604317 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Death in childhood, Dilation of Virchow-Robin spaces, Partial agenesis of the corpus callosum, La... |
OMIM:619517 |
| Loeys-Dietz Syndrome 4 |
|
Spondylolisthesis, Arterial tortuosity, Abnormal sternum morphology, Aortic tortuosity, Cutis lax... |
OMIM:614816 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Femur fracture, Osteopetrosis, Death in childhood, Hydrocephalus, Death in infancy, Abnormal trab... |
OMIM:612301 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Non-Functioning Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani... |
ORPHA:94080 |
| Fadd-Related Immunodeficiency |
|
Ventricular septal defect, Pulmonary artery atresia |
ORPHA:306550 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel a... |
OMIM:619227 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Platyspondyly, Scoliosis |
OMIM:618728 |
| Recombinant Chromosome 8 Syndrome |
|
Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet right ventricle, ... |
OMIM:179613 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intrauterine growth retardation, Intraventricular hemorrhage |
ORPHA:79284 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc... |
OMIM:605376 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Enlargement of the costochondral junction, Pectus carinatum, Platyspondyly, L... |
OMIM:271650 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Joint hypermobility, Talipes equinovarus, Cervical C2/C3 vertebral fusion, Camptodactyly |
OMIM:617333 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of... |
OMIM:614954 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ankle clonus, Scoliosis, Dextrotransposition of the great arteries, Lateral ventri... |
OMIM:619995 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Scoliosis, Hump-shaped mound of bone in central and posterior portions of ve... |
OMIM:313400 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Multiple joint dislocation, Repeated pneumothoraces, Pectus carinatum, Pectus exc... |
ORPHA:536467 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Breast aplasia, Decreased testicular size, Elevated circulating follicle stimulating hormone leve... |
ORPHA:3044 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Sandal gap, Joint contracture of the 5th finger, 2-3 toe syndactyly, Joint contracture of the 4th... |
OMIM:618914 |
| Axial Spondylometaphyseal Dysplasia |
|
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... |
ORPHA:168549 |
| Factor Vii Deficiency |
|
Abnormal bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracranial hemorrhage, Bruising su... |
OMIM:227500 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogon... |
OMIM:300510 |
| Rafiq Syndrome |
|
Clinodactyly of the 5th finger, Cutis laxa, Obesity, Flexion contracture, Joint hypermobility, Sh... |
OMIM:614202 |
| Ritscher-Schinzel Syndrome 1 |
|
Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr... |
OMIM:220210 |
| Zttk Syndrome |
|
Dysplastic corpus callosum, Hyperextensible skin, Aortic regurgitation, Patent ductus arteriosus,... |
OMIM:617140 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to... |
OMIM:613759 |
| Rin2 Syndrome |
|
Hyperextensible skin, Aortic aneurysm, Abnormal sternum morphology, Scoliosis, Redundant skin, Br... |
ORPHA:217335 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Abnormal form of the vertebral bodies, Kyphosis, Delayed skeletal matura... |
ORPHA:280 |
| Periodontal Ehlers-Danlos Syndrome |
|
Joint hypermobility, Micrognathia, Hyperextensible skin |
ORPHA:75392 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Cephalohematoma, Epidural hemorrhage, Subdural hemorrhage, Prolonged... |
ORPHA:169802 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor... |
OMIM:616749 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Lumbar platyspondyly, Narrow chest, Increased intervertebral space, ... |
OMIM:618961 |
| Cog5-Cdg |
|
Genu valgum, Premature skin wrinkling, Atrophy/Degeneration affecting the brainstem, Brain atroph... |
ORPHA:263487 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Osteopenia, Hyperextensible skin, Cutis laxa, Arachnodactyly, Pulmonic stenosis, ... |
ORPHA:75496 |
| Alagille Syndrome |
|
Spina bifida occulta, Abnormal form of the vertebral bodies, Butterfly vertebral arch, Hypertensi... |
ORPHA:52 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Kyphoscoliosis, Parietal cortical atrophy, Clinodactyly of the 5th finger, Lateral ventricle dila... |
OMIM:620075 |
| Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Irregularity of vertebral bodies |
ORPHA:85172 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Agenesis of corpus callosum, Cerebellar atrophy, Lateral ventricle dilatation |
ORPHA:300573 |
| Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
| Perrault Syndrome 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233400 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Colpocephaly, Epiphyseal stippling |
OMIM:614870 |
| Fetal Encasement Syndrome |
|
Congenital diaphragmatic hernia, Tetralogy of Fallot, Omphalocele |
OMIM:613630 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Broad thumb, Broad hallux,... |
OMIM:184460 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Narrow greater sciatic notch, Short greater sciatic notch, Pectus carinatum, Short ribs, Cardiomy... |
OMIM:312870 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Lateral ventricle dilatation |
OMIM:616816 |
| Man1B1-Cdg |
|
Clinodactyly of the 5th finger, Pectus carinatum, 2-3 toe syndactyly, Cutis laxa, Joint hypermobi... |
ORPHA:397941 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypercholesterolemia |
OMIM:620211 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Myhre Syndrome |
|
Enlarged vertebral pedicles, Hypertension, Aortic valve stenosis, Pericardial effusion, Coarctati... |
OMIM:139210 |
| Aspergillosis |
|
Hypersensitivity pneumonitis, Abnormal long bone morphology, Abnormality of the vertebral column,... |
ORPHA:1163 |
| Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:615297 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:2234 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hydrocephalus, Hypertension, C... |
ORPHA:90065 |
| Ogden Syndrome |
|
Cerebral atrophy, Delayed cranial suture closure, Scoliosis, Cutis laxa, Pulmonary artery stenosi... |
ORPHA:276432 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Abnormal metaphysis morphology, Abnormal carpal morphology, Genu valgum, Short metatarsal, Upper ... |
ORPHA:93351 |
| Constricting Bands, Congenital |
|
Encephalocele, Scoliosis, Omphalocele, Abnormal rib cage morphology, Bladder exstrophy, Gastrosch... |
OMIM:217100 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Abnormal thumb morphology, Redundant neck skin, Abnormal femur morphology, Rhizomelia, Bell-shape... |
ORPHA:1842 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Scoliosis |
OMIM:605285 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia, Sirenomelia, Anencephaly, Bifid sternum, Myelomeningocele, Ompha... |
ORPHA:63260 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Cartilage-Hair Hypoplasia |
|
Asymmetry of the thorax, Narrow chest, Scoliosis, Prominent sternum, Narrow vertebral interpedicu... |
OMIM:250250 |
| Coffin-Lowry Syndrome |
|
Abnormal form of the vertebral bodies, Pectus carinatum, Redundant skin, Pectus excavatum, Kyphos... |
ORPHA:192 |
| Menkes Disease |
|
Death in childhood, Wormian bones, Metaphyseal spurs, Osteoporosis, Cutis laxa, Metaphyseal widen... |
OMIM:309400 |
| Bruck Syndrome 1 |
|
Ankle flexion contracture, Vertebral wedging, Pectus carinatum, Scoliosis, Elbow flexion contract... |
OMIM:259450 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Hyperextensible skin, Congenital bilateral hip dislocation, Joint subluxation, Scolio... |
OMIM:130060 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:163971 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Platyspondyly |
OMIM:617974 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Scoliosis, Hemivertebrae, Short ribs, Thin ribs, Missing ribs, Block vertebrae, Pulmonary hypopla... |
OMIM:271520 |
| Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Osteopenia, Beaking of vertebral bodies, Premature skin wrinkling, Vertebral comp... |
OMIM:231070 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Narrow vertebral interpedicular distance, Short neck, Scoliosis, 11 pairs of ribs |
OMIM:620073 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal hip bone morphology, Sandal gap, Pectus carinatum, Pectus excavatum, Kyphosis, Death in ... |
ORPHA:1507 |
| C Syndrome |
|
Radial deviation of finger, Patent ductus arteriosus, Dislocated radial head, Scoliosis, Postaxia... |
OMIM:211750 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Reduced bone mineral density, Prolonged QT interval, Enlarged thorax, Hypertension, Pectus excava... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Reduced bone mineral density, Prolonged QT interval, Enlarged thorax, Hypertension, Pectus excava... |
ORPHA:99228 |
| Monosomy X |
|
Reduced bone mineral density, Prolonged QT interval, Enlarged thorax, Hypertension, Pectus excava... |
ORPHA:99226 |
| Turner Syndrome |
|
Reduced bone mineral density, Prolonged QT interval, Enlarged thorax, Hypertension, Pectus excava... |
ORPHA:881 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal form of the vertebral bodies, Kyphosis, Delayed skeletal maturation, Ventriculomegaly, H... |
OMIM:194190 |
| Bruck Syndrome 2 |
|
Inguinal hernia, Pectus carinatum, Elbow flexion contracture, Flexion contracture, Knee flexion c... |
OMIM:609220 |
| Congenital Factor Vii Deficiency |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... |
ORPHA:327 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Post-partum hemorrhage, Miscarriage, Menorrhagi... |
ORPHA:465 |
| Mastocytosis, Cutaneous |
|
Edema, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Right Atrial Isomerism |
|
Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres... |
OMIM:208530 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal form of the vertebral bodies, Hydrocephalus, Scoliosis, Hemivertebrae, Abnor... |
ORPHA:2180 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Intraventricular hemorrhage, Sacral dimple, Aganglionic megacolon |
OMIM:613603 |
| Thakker-Donnai Syndrome |
|
Transposition of the great arteries, Cervical C2/C3 vertebral fusion, Hemivertebrae, Communicatin... |
ORPHA:1780 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Abnormal aortic arch... |
ORPHA:860 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Amenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Enlarged polycystic ovaries, Elevated circulating growth hormone concentratio... |
ORPHA:90301 |
| Koolen-De Vries Syndrome |
|
Sacral dimple, Spondylolisthesis, Patent ductus arteriosus, Aortic root aneurysm, Scoliosis, Prom... |
OMIM:610443 |
| Acrodysplasia Scoliosis |
|
Scoliosis, Vertebral segmentation defect, Spina bifida occulta |
ORPHA:2956 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Congestive heart failure, Abnormal intervertebral disk morphology, Hypertension, Hypertrophic car... |
ORPHA:1345 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Beaking of vertebral bodies, Scoliosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly... |
OMIM:609616 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Large placenta, Inguinal hernia, Diastasis recti, Wrist flexion contracture, Camptodactyly, Ompha... |
ORPHA:254528 |
| Cornelia De Lange Syndrome 1 |
|
Limited elbow extension, Hypoplasia of the radius, Clinodactyly of the 5th finger, Proximal place... |
OMIM:122470 |
| Atrial Septal Defect, Ostium Primum Type |
|
Third heart sound, Right-to-left shunt, Pulmonary arterial hypertension, Systolic heart murmur, P... |
ORPHA:99106 |
| Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Scoliosis, Vertebral segmentation defect, Anisospondyly, Platyspondyly |
ORPHA:85198 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Pituitary gonadotropic cell adenoma, Diabetes insipidus, Increased circ... |
ORPHA:300385 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:1149 |
| Pyle Disease |
|
Platyspondyly, Scoliosis, Abnormal thorax morphology |
OMIM:265900 |
| Gm1-Gangliosidosis, Type Iii |
|
Anterior beaking of lumbar vertebrae, Foam cells, Scoliosis, Kyphosis, Ataxia, Cherry red spot of... |
OMIM:230650 |
| Atelosteogenesis, Type Ii |
|
Increased intervertebral space, Scoliosis, Horizontal sacrum, Coronal cleft vertebrae, Thoracic h... |
OMIM:256050 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Menorrhagia, Amenorrhea, Polycystic ovaries |
ORPHA:2795 |
| Rahman Syndrome |
|
Kyphoscoliosis, Redundant skin, Camptodactyly, Accelerated skeletal maturation, Ventriculomegaly,... |
OMIM:617537 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Scoliosis, Kyphosis, Platyspondyly, Short neck |
OMIM:113500 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... |
OMIM:305400 |
| Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete... |
ORPHA:101030 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Platyspondyly, Multiple small vertebral fractures, Osteoporosis of vertebrae |
OMIM:156510 |
| Double Outlet Right Ventricle |
|
Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, Tetralogy ... |
ORPHA:3426 |
| Aldh18A1-Related De Barsy Syndrome |
|
Joint hypermobility, Hyperextensible skin |
ORPHA:35664 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Arachnodactyly, Absent thumb, Lateral ventricle dilatation, Cervical ribs, Joint ... |
ORPHA:500150 |
| Multiple Synostoses Syndrome 2 |
|
Finger symphalangism, Tarsal synostosis, Talipes equinovarus, Proximal symphalangism, Humeroradia... |
OMIM:610017 |
| Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Occipital encephalocele, Abnormal intervertebral disk morphology... |
ORPHA:887 |
| Keratoconus Posticus Circumscriptus |
|
Clinodactyly of the 5th finger, Limited elbow extension and supination, Brachydactyly, Short neck... |
OMIM:244600 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Pulmonary Arteriovenous Malformation |
|
Ischemic stroke, Myocardial infarction, Cyanosis, Clubbing, Transient ischemic attack, Pleural em... |
ORPHA:2038 |
| De Barsy Syndrome |
|
Kyphoscoliosis, Pectus excavatum, Cutis laxa, Delayed skeletal maturation, Umbilical hernia, Addu... |
ORPHA:2962 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Umbilical hernia |
ORPHA:2143 |
| Adult-Onset Dystonia-Parkinsonism |
|
Frontotemporal cerebral atrophy, Generalized cerebral atrophy/hypoplasia, Neurofibrillary tangles |
ORPHA:199351 |
| Niemann-Pick Disease, Type C2 |
|
Neurofibrillary tangles |
OMIM:607625 |
| Alg8-Cdg |
|
Premature skin wrinkling, Camptodactyly, Cerebral cortical atrophy, Cutis laxa, Failure to thrive... |
ORPHA:79325 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Large placenta, Bell-shaped thorax, Inguinal hernia, Diastasis recti, Omphalocele... |
ORPHA:254519 |
| Early-Onset Lafora Body Disease |
|
Lafora bodies |
ORPHA:324290 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Aortic aneurysm,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Cervical spinal canal stenosis, Sacral dimple, Spondylolisthesis, Aortic aneurysm,... |
ORPHA:363958 |
| Cardiogenic Shock |
|
Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure... |
ORPHA:97292 |
| Achondrogenesis Type 1B |
|
Narrow chest, Short thorax, Abnormal rib morphology, Femoral hernia, Umbilical hernia, Short neck |
ORPHA:93298 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Excessive wrinkled skin, Dandy-Walker malformation, Scoliosis, Redundant skin, Wide anterior font... |
OMIM:219200 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Spontaneous hematomas, Purpura, Abnormal bleeding, Gastrointestinal hemorrhage, Melena, Cephalohe... |
ORPHA:853 |
| Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
| Achondroplasia |
|
Short ribs, Narrow vertebral interpedicular distance, Thoracic hypoplasia, Lumbar kyphosis in inf... |
OMIM:100800 |
| Cog1-Cdg |
|
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Rhizomelia, Talipes equinovarus, Vertebral segme... |
ORPHA:263508 |
| Alexander Disease Type I |
|
Abnormal cerebral white matter morphology, Rosenthal fibers, Focal T2 hyperintense basal ganglia ... |
ORPHA:363717 |
| Alg2-Cdg |
|
Lateral ventricle dilatation |
ORPHA:79326 |
| Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Narrow chest, Inguinal hernia, Short ribs, Umbilic... |
OMIM:600972 |
| 8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio... |
ORPHA:3304 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... |
OMIM:277450 |
| Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Bradycardia, Cardiac arrest, Hypotension, Hypoxemia, Tachycardia, Cyanosis |
ORPHA:70587 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Prolonged bleeding fo... |
ORPHA:35909 |
| Post-Traumatic Pituitary Deficiency |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:95619 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Kyphoscoliosis, Pectus carinatum, Shield chest, Atlantoaxial instability, Platyspondyly, Short neck |
OMIM:184095 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Scoliosis, Hemivertebrae, Failure to thrive, Rib fusion |
OMIM:614688 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Hypotension, Epistaxis, Cerebral hemor... |
ORPHA:99828 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pulmonary edema, Pedal edema, Clubbing of fingers, Pleural ef... |
ORPHA:199241 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Redundant skin, Limitation of joint mobility, Arachnodactyly, Flexion contracture, Hip... |
ORPHA:171719 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Renal artery stenosis, Generalized arterial calcification, Carotid artery calcification, Arterial... |
OMIM:208000 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Talipes equinovarus, Lateral ventricle dilatation |
OMIM:619972 |
| Bohring-Opitz Syndrome |
|
Sacral dimple, Joint dislocation, Dislocated radial head, Dandy-Walker malformation, Mesomelic/rh... |
OMIM:605039 |
| Lymphatic Malformation 10 |
|
Lymphedema |
OMIM:619369 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Carpal bone aplasia, Oligodactyly, Short humerus, Absent thumb, Absent ra... |
OMIM:218600 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Hypotension, Tricuspid regurgitation, Death in infancy, Neonatal death, Cerebral hemorrhage, Dila... |
OMIM:620300 |
| Thanatophoric Dysplasia, Type Ii |
|
Narrow chest, Wide-cupped costochondral junctions, Short ribs, Small abnormally formed scapulae, ... |
OMIM:187601 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... |
ORPHA:174 |
| Triploidy |
|
Abnormality of the fontanelles or cranial sutures, Meningocele, Hydrocephalus, Omphalocele, Holop... |
ORPHA:3376 |
| Kaposiform Lymphangiomatosis |
|
Abnormal femur morphology, Abnormal form of the vertebral bodies, Epistaxis, Abnormal sacrum morp... |
ORPHA:464329 |
| Holt-Oram Syndrome |
|
Pectus excavatum, Kyphosis, Joint stiffness, Broad thumb, Absent thumb, Abnormal clavicle morphol... |
ORPHA:392 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Arrhythmia |
ORPHA:1314 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Pneumothorax, Abnormal bleeding, Hyperextensible skin, Recurrent joint dislocatio... |
ORPHA:2953 |
| Aicardi-Goutieres Syndrome 9 |
|
Cerebral atrophy, Increased blood pressure, Scoliosis, Hypertension, Dry skin, Osteoporosis, Port... |
OMIM:619487 |
| Neural Tube Defects, Susceptibility To |
|
Sacral dimple, Anencephaly, Spina bifida occulta, Lipoma, Asymmetry of spinal facet joints, Myelo... |
OMIM:182940 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Rhizomelia, 11 pairs of ribs, Metaphyseal cupping, Hydrocephalus, Thin ribs, Hypoplasia of the ca... |
OMIM:300863 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Scoliosis, Talipes equinovarus, Lateral ventricle dilatation |
OMIM:256850 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Kyphoscoliosis, Rocker bottom foot, Cerebellar atrophy, Ventriculomegaly, Coxa valga, Elbow flexi... |
OMIM:214150 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Factor X Deficiency |
|
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... |
OMIM:227600 |
| Larsen Syndrome |
|
Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Pectus excavatum, Short me... |
OMIM:150250 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Anterior hypopituitarism, Ethmoidal encephalocele, Abnormal rib mo... |
ORPHA:280195 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphoscoliosis, Sandal gap, Redundant skin, Pectus excavatum, Kyphosis, Arachnodactyly, Equinus c... |
ORPHA:536532 |
| Waisman Syndrome |
|
Lewy bodies, Megalencephaly |
OMIM:311510 |
| 49,Xxxyy Syndrome |
|
Increased circulating gonadotropin level, External genital hypoplasia, Abnormality of the testis ... |
ORPHA:261534 |
| Poland Syndrome |
|
Reduced bone mineral density, Asymmetry of the thorax, Abnormal sternum morphology, Pectus carina... |
ORPHA:2911 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Narrow chest, Bowed humerus, Small pituitary gland, Short long bone, Short humerus, Thoracic hypo... |
OMIM:619479 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Pectus excavatum, Ovoid vertebral bodies, Thoracic hypoplasia, Platyspondyly, Posterior rib cuppi... |
OMIM:608728 |
| Hemophilia B |
|
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... |
ORPHA:98879 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Platyspondyly |
OMIM:271600 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema |
OMIM:619319 |
| Koolen-De Vries Syndrome |
|
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyphosis, Dry skin, Arachnodactyly, J... |
ORPHA:96169 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Thoracic kyphosis, Rib fusion, Ulnar ... |
OMIM:148050 |
| Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Narrow chest, Flared metaphysis, Hydrocephalus, Short greater sciatic n... |
OMIM:187600 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Apraxia, Chorea, Spasticity, Hemiparesis, Ataxia, Extrapyramidal dyskinesia, Myoclonu... |
ORPHA:71277 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Deafness, Unilateral, With Delayed Endolymphatic Hydrops |
|
Edema |
OMIM:612097 |
| Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, Scoliosis, Hypertension, Abnorm... |
ORPHA:3027 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Dilated third ventricle, Lateral ventricle dilatation |
OMIM:620315 |
| Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, Thin ribs, Retinal hemorrhage, Death in infancy, Subdural he... |
OMIM:615368 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Left-to-right shunt, Supraventricular arrhythmia, Transient ischemic attack, Pulmonary arterial h... |
ORPHA:99103 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Dilatat... |
OMIM:187300 |
| Schisis Association |
|
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Omphalocele, Spina bifida |
ORPHA:63862 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Spondylolysis, Muscle hem... |
ORPHA:464321 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Grant Syndrome |
|
Abnormal cortical bone morphology, Joint dislocation, Narrow chest, Wormian bones, Decreased skul... |
ORPHA:2097 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Hump-shaped mound o... |
ORPHA:99642 |
| Paget Disease Of Bone 6 |
|
Coronary artery atherosclerosis, Left ventricular hypertrophy |
OMIM:616833 |
| Glut1 Deficiency Syndrome 1 |
|
Babinski sign, Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Choreoathetosis |
OMIM:606777 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal finger morphology, Redundant skin, Kyphosis, Delayed skeletal maturation, Symphalangism ... |
ORPHA:2658 |
| Carpenter Syndrome 1 |
|
Transposition of the great arteries, Genu valgum, Lambdoidal craniosynostosis, Spina bifida occul... |
OMIM:201000 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... |
ORPHA:1916 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Shortening of all distal phalanges of the fingers, Lateral ventricle dilatation |
OMIM:615716 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Hydrocephalus, Forearm undergrowth, Bowed forearm bones, Absent thumb, Later... |
OMIM:602200 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa, Arachnodactyly, Emphysema, Hip dislocation |
OMIM:614100 |
| Pseudodiastrophic Dysplasia |
|
Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Tongue-like lumbar vertebral deform... |
OMIM:264180 |
| Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism |
ORPHA:1643 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Tarsal synostosis, Fused cervical vertebrae, Hypoplastic aortic arch, Scol... |
OMIM:157800 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Cerebral hemorrhage, Cerebral ischemia |
OMIM:263300 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Frontal cortical atrophy, Scoliosis, Atrophy of the spinal cord, Hypotha... |
ORPHA:2822 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of Fallot, Pate... |
OMIM:618316 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Hyperextensible skin, Emphysema, Aortic regurgitation, Redundant skin, Ascending tubular aorta an... |
OMIM:219100 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Abnormal fibula morphology, Tarsal synostosis, Cubitus valgus, Clinodactyly of the 5th finger, Du... |
ORPHA:1836 |
| Lethal Congenital Contracture Syndrome 10 |
|
Narrow chest, Omphalocele, Thoracic scoliosis, Short neck, Broad ribs |
OMIM:617022 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Genu valgum, Cerebral cortical atrophy, Failure to thrive in infancy,... |
ORPHA:488627 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... |
OMIM:618841 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Mosaic Trisomy 20 |
|
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... |
ORPHA:1724 |
| Congenital Alpha2-Antiplasmin Deficiency |
|
Abnormal bleeding, Gingival bleeding, Abnormal umbilical stump bleeding, Joint hemorrhage, Intrac... |
ORPHA:79 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Scoliosis, Ovoid thoracolumbar vertebrae, Umbilical hernia, Thickened ribs |
OMIM:252900 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... |
ORPHA:2064 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Cutis laxa, Scoliosis, Mitral regurgitation, Premature skin wrinkling |
OMIM:614434 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Premature skin wrinkling, Aortic regurgitation, Delayed cranial suture closure, Wormi... |
OMIM:616603 |
| Supranuclear Palsy, Progressive, 2 |
|
Neuronal loss in basal ganglia, Granulovacuolar degeneration, Neurofibrillary tangles |
OMIM:609454 |
| Coffin-Siris Syndrome 1 |
|
Sandal gap, Dislocated radial head, Prominent fingertip pads, Kyphosis, Delayed skeletal maturati... |
OMIM:135900 |
| Erythrocytosis, Familial, 2 |
|
Stroke, Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Varicose veins |
OMIM:263400 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Scoliosis, Dilation of Virchow-Robin spaces, Flexion contracture, Lateral ventricle dilatation |
ORPHA:2148 |
| Occipital Horn Syndrome |
|
Pectus carinatum, Broad clavicles, Redundant skin, Limited knee extension, Kyphosis, Pectus excav... |
OMIM:304150 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Subependymal cysts, Aortic regurgitation, Cardiomyopathy, Micrognathia, Lateral ventricle dilatation |
OMIM:600721 |
| Lissencephaly 5 |
|
Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic... |
OMIM:615191 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure, Redundant skin, Neonatal death |
OMIM:301021 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, H... |
OMIM:266920 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Wide anterior fontanel, Omphalocele, Flexion contracture, Short ... |
OMIM:263210 |
| Erythrocytosis, Familial, 1 |
|
Hypertension, Cerebral hemorrhage, Myocardial infarction |
OMIM:133100 |
| Congenital Factor X Deficiency |
|
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... |
ORPHA:328 |
| Mucopolysaccharidosis Type 4 |
|
Grayish enamel, Short thorax, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Pectus... |
ORPHA:582 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
| Joint Laxity, Short Stature, And Myopia |
|
Kyphoscoliosis, Inguinal hernia, Pectus carinatum, Umbilical hernia, Cervical kyphosis |
OMIM:617662 |
| Hemimegalencephaly |
|
Polymicrogyria, Abnormal neuron morphology, Gray matter heterotopia, Pachygyria |
ORPHA:99802 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Pectus carinatum, Hyperlordosis, Short metacarpal, Delayed skeletal maturation, Tarsal synostosis... |
OMIM:272460 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis, Congestive heart failure, Myocardial infarction |
ORPHA:132 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Lateral ventricle dilatation |
OMIM:618890 |
| Potocki-Shaffer syndrome |
|
Delayed cranial suture closure |
DECIPHER:34 |
| Progeroid Syndrome, Petty Type |
|
Wide anterior fontanel, Redundant skin, Decreased skull ossification, Cutis laxa, Failure to thri... |
ORPHA:2963 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Redundant skin,... |
OMIM:250220 |
| Takayasu Arteritis |
|
Abnormal endocardium morphology, Abnormal aortic valve morphology, Vascular dilatation, Abnormal ... |
ORPHA:3287 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormal hip bone morphology, Pectus carinatum, Abnormal femoral head morphology, Short long bone... |
ORPHA:239 |
| Abeta Amyloidosis, Dutch Type |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100006 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in childhood, Chylothorax, Death in infancy, Cerebral hemorrhage, Thoracic scoliosis, Subdu... |
OMIM:620278 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... |
OMIM:616828 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu... |
OMIM:270100 |
| Lymphedema And Cerebral Arteriovenous Anomaly |
|
Lymphedema |
OMIM:152900 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Aortic aneurysm, Patent foramen ovale, Persistent left superior vena cava, Abnormal heart morphol... |
ORPHA:477817 |
| Immunodeficiency 49 |
|
Cutis laxa, Pulmonary artery stenosis, Micrognathia, Agenesis of corpus callosum, Umbilical herni... |
OMIM:617237 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter, Female infertility |
OMIM:617577 |
| Left Ventricular Noncompaction 1 |
|
Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul... |
OMIM:604169 |
| Phaver Syndrome |
|
Butterfly vertebrae, Triphalangeal thumb, Hypoplastic aortic arch, Pterygium, Abnormal form of th... |
ORPHA:2876 |
| Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Granulovacuolar degeneration, Neurofibrillary tangles, Neuronal loss in basal g... |
OMIM:601104 |
| White Forelock With Malformations |
|
Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology |
ORPHA:2475 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Ventricular septal defect |
OMIM:253300 |
| Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia |
OMIM:612526 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordosis, Posterior... |
OMIM:619698 |
| Ehlers-Danlos Syndrome, Periodontal Type, 2 |
|
Hyperextensible skin, Joint dislocation, Scoliosis, Gingival bleeding, Umbilical hernia, Joint hy... |
OMIM:617174 |
| Mucopolysaccharidosis, Type Ivb |
|
Cervical myelopathy, Hyperlordosis, Kyphosis, Joint stiffness, Aortic valve stenosis, Constricted... |
OMIM:253010 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short ribs, Flat acetabular roof, Short long bone, Dumbbell-shaped long bone, Hypoplastic ischia,... |
OMIM:151210 |
| Bilateral Generalized Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:208447 |
| Osteogenesis Imperfecta, Type V |
|
Vertebral wedging, Platyspondyly, Biconcave vertebral bodies, Dentinogenesis imperfecta |
OMIM:610967 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hydrocephalus, Dilated third ventricle, Failure to thrive, Hematochezia, Lateral ventricle dilata... |
OMIM:619575 |
| Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Oligozoospermia, Elevated circulating follicle stimulating hormone lev... |
OMIM:602668 |
| Meckel Syndrome, Type 2 |
|
Anencephaly, Encephalocele, Meningocele, Omphalocele, Intrauterine growth retardation |
OMIM:603194 |
| 1P36 Deletion Syndrome |
|
Kyphosis, Joint stiffness, Ventriculomegaly, Telangiectasia, Scoliosis, Spinal canal stenosis, Fa... |
ORPHA:1606 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormal metaphysis morphology, Hyperextensible skin, Flat capital femoral epiphysis,... |
ORPHA:157965 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac... |
ORPHA:268882 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Redundant neck skin, Patent ductus arteriosus, Neonatal death, Agenesis of corpus callosum, Mild ... |
OMIM:610498 |
| Frontometaphyseal Dysplasia 2 |
|
Fused cervical vertebrae, Short metatarsal, Flared metaphysis, Dislocated radial head, Scoliosis,... |
OMIM:617137 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Descending thoracic aorta aneurysm, Hypertension, Descending aortic dissection, Peripheral arteri... |
ORPHA:91387 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Clinodactyly of the 5th finger, Patent duc... |
ORPHA:177907 |
| Hall-Riggs Syndrome |
|
Scoliosis, Kyphosis, Enamel hypoplasia, Irregular vertebral endplates, Platyspondyly |
OMIM:234250 |
| Mirage Syndrome |
|
Rocker bottom foot, Radial club hand, Hydrocephalus, Petechiae, Scoliosis, Decreased body weight,... |
OMIM:617053 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
| Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Abnormal form of the vertebral bodies, Short thorax, Hyperlordosis, Umbilical he... |
ORPHA:3218 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to... |
OMIM:300888 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Cutis laxa, Redundant skin, Increased number of skin folds |
ORPHA:436274 |
| Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... |
ORPHA:91354 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... |
OMIM:600376 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Short stature, Simplified gyral pattern, Intrauterine growth retardation, Periventricular heterot... |
OMIM:616171 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Recurrent mandibular subluxations, Spontaneous neonatal pneumothorax, Hyperextensible... |
OMIM:225410 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Wide anterior fontanel, Scoliosis, Congenital hip dislocation, Contracture of the proximal interp... |
ORPHA:457279 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Robinow Syndrome |
|
Kyphoscoliosis, Mesomelic arm shortening, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Umb... |
ORPHA:97360 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Platyspondyly |
OMIM:184840 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Pontocerebellar atrophy, Lateral ventricle dilatation |
OMIM:617854 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Streaky metaphyseal sclerosis, Dislocated radial head, Kyphosis, ... |
OMIM:603546 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Genu valgum, Joint dislocation, Cone-shaped epiphyses of the phalanges of the hand, Bone pain, Re... |
ORPHA:502 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, Cubitus valgus, Excessive wrinkled skin, Hyperextensible skin, Hydrocephalus, Scolio... |
ORPHA:1340 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Congestive heart failure, Anasarca, Pulmonary edema, Bradycardia, ST segment elevation, Cardiomyo... |
OMIM:261740 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Isolated Anencephaly |
|
Congenital diaphragmatic hernia, Intrauterine growth retardation, Omphalocele |
ORPHA:563609 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Thoracic hypoplasia, Wormi... |
OMIM:616897 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Pne... |
ORPHA:1855 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit... |
OMIM:306955 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Babinski sign, Scoliosis, Poor fine motor coordination, Vocal cord paralysis, Frequent falls, Abn... |
ORPHA:99947 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Narrow chest, Short ribs, Postaxial hand polydactyly, Acetabular spurs, De... |
OMIM:617405 |
| Bainbridge-Ropers Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Death in infancy,... |
OMIM:615485 |
| Ulbright-Hodes Syndrome |
|
Pneumothorax, Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Short metacarpal,... |
ORPHA:3404 |
| Acys Amyloidosis |
|
Stroke, Cerebral hemorrhage, Cerebral amyloid angiopathy |
ORPHA:100008 |
| Cole-Carpenter Syndrome |
|
Abnormal metaphysis morphology, Crumpled long bones, Abnormal form of the vertebral bodies, Scoli... |
ORPHA:2050 |
| Cooper-Jabs Syndrome |
|
Congenital diaphragmatic hernia, Scoliosis, Missing ribs, Abnormal rib morphology, Camptodactyly ... |
ORPHA:1488 |
| Fetal Gaucher Disease |
|
Stillbirth, Neonatal death, Intracranial hemorrhage, Death in infancy |
ORPHA:85212 |
| Mosaic Trisomy 14 |
|
Narrow chest, Abnormal rib morphology, Camptodactyly of finger, Micrognathia, Failure to thrive, ... |
ORPHA:1703 |
| Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Abnormal sternum morphology, Scolios... |
ORPHA:1335 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Hydrocephalus, Scoliosis, Dilated third ventricle, Kyphosis, Failure to thrive, Flexion contractu... |
ORPHA:500055 |
| Autosomal Recessive Primary Microcephaly |
|
Gray matter heterotopia, Growth delay, Short stature, Pachygyria, Agenesis of corpus callosum |
ORPHA:2512 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Abnormal bleeding, Redundant skin, Cutis laxa, Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... |
OMIM:262600 |
| Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis, Hyperlordosis |
OMIM:614198 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery aneurysm, Arterial tortuosity, Bradycardia, Pectus excavatum, Cutis laxa, Arachn... |
OMIM:614437 |
| Pseudoachondroplasia |
|
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Joint hypermobility, Limit... |
OMIM:177170 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Delayed skeletal maturation, Lateral ventricle dilatation, Short 5th finger, Delayed closure of t... |
OMIM:607872 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Clinodactyly of the 5th finger, Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, ... |
ORPHA:2916 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Congenital kyphoscoliosis, Aortic aneurysm, Pectus carinatum, Scoliosis, Shoulder... |
ORPHA:536545 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Perineal hypospadias, Ovotestis, Bifid scrotum, Abnormal testis morphology,... |
ORPHA:199310 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Central cyanosis, Tricuspid regurgit... |
OMIM:620067 |
| Phace Association |
|
Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte... |
OMIM:606519 |
| Helsmoortel-Van Der Aa Syndrome |
|
Sandal gap, Hyperlordosis, Prominent fingertip pads, Pectus excavatum, Short lower limbs, Lateral... |
OMIM:615873 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Dandy-Walker malformation, Dilated third ventricle, Flexion contracture, Lateral v... |
OMIM:613154 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Broad hallux, Lateral ventricle dilatation |
OMIM:614105 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Fused cervical vertebrae, Brain atrophy, Thin ribs, Cleft vertebral arch, Coronal... |
ORPHA:83617 |
| Acquired Von Willebrand Syndrome |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotensio... |
ORPHA:99147 |
| Achondrogenesis Type 1A |
|
Narrow chest, Short thorax, Femoral hernia, Umbilical hernia, Short neck, Multiple rib fractures |
ORPHA:93299 |
| Lethal Kniest-Like Dysplasia |
|
Narrow chest, Wide anterior fontanel, Short ribs, Hypoplastic vertebral bodies, Anterior rib cupp... |
ORPHA:2347 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Patent ductus arteriosus, Sandal gap, Hydrocephalus, Prominent fing... |
OMIM:612863 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Right-to-left shunt, L... |
OMIM:610655 |
| Spinal Arteriovenous Metameric Syndrome |
|
Kyphoscoliosis, Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malfor... |
ORPHA:53721 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Long clavicles, Osteolytic defects of the phalanges of the hand, Arthritis, Arthropat... |
OMIM:259100 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Abnormal metaphysis morphology, Cone-shaped epiphysis, Narrow chest... |
ORPHA:474 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Oligodactyly, Hypothalamic hamartoma, Broad thumb, Umbilical hernia, Polyd... |
ORPHA:672 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Diaphyseal sclerosis, Cortical sclerosis, Death in adolescence, Thicke... |
OMIM:122860 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuchal translucenc... |
OMIM:617300 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Wide anterior fontanel, Pectus excavatum, Kyphosis, Umbilical hernia |
OMIM:618272 |
| Neurocutaneous Melanocytosis |
|
Abnormality of neuronal migration, Intracranial hemorrhage, Meningocele |
ORPHA:2481 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Cerebral atrophy, Dilated third ventricle, Obesity, Lateral ventricle dilatation, Partial agenesi... |
OMIM:617296 |
| Acromesomelic Dysplasia 1 |
|
Beaking of vertebral bodies, Ovoid vertebral bodies, Lumbar hyperlordosis, Thoracolumbar kyphosis... |
OMIM:602875 |
| Smith-Mccort Dysplasia 1 |
|
Beaking of vertebral bodies, Barrel-shaped chest, Scoliosis, Prominent sternum, Kyphosis, Atlanto... |
OMIM:607326 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Bell-shaped thorax, Scoliosis, Pectus excavatum, Platyspondyly |
OMIM:619131 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Platyspondyly, Dentinogenesis imperfecta |
ORPHA:71267 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Beaking of vertebral bodies, Abnormal shoulder morphology, Hyperconvex vertebral body endplates, ... |
ORPHA:1159 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Cardiomyopathy, Pectus excavatum, Death in infancy, Broad thumb, Accelerat... |
ORPHA:373 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:1486 |
| Hao-Fountain Syndrome |
|
Delayed cranial suture closure, Large fontanelles |
OMIM:616863 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ... |
OMIM:171420 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphoscoliosis, Pectus carinatum, Scoliosis, Elbow flexion contracture, Hypoplasia of the odontoi... |
OMIM:184252 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Congestive heart failure, Aortic regurgitation, Tricuspid regurgitation, Joint stiffness, Cutis l... |
OMIM:314400 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Hydrocephalus, Hypoplastic iliac wing, Thin ribs, Abnormality of the calcaneus, Death... |
ORPHA:163966 |
| Holt-Oram Syndrome |
|
Abnormal coronary artery origin, Cervical C2/C3 vertebral fusion, Proximal placement of thumb, Pe... |
OMIM:142900 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Sclerotic vertebral body, Bell-shaped thorax, Diaphyseal sclerosis, Hydrocephalus,... |
OMIM:618476 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Scoliosis, Hyperlordosis, Kyphosis, Achilles tendon contracture, Dilated cardiomyopathy, Abnormal... |
OMIM:607155 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Kyphoscoliosis, Ankle flexion contracture, Abnormal anterior horn cell morphology, Elbow flexion ... |
ORPHA:1145 |
| Emanuel Syndrome |
|
Kyphoscoliosis, Cerebral atrophy, Redundant neck skin, Sacral dimple, Hydrocephalus, Dandy-Walker... |
ORPHA:96170 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Abnormality of the wrist, Abnormal vertebral morphology, Abnormal metac... |
ORPHA:2319 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Lateral ventricle dilatation |
OMIM:608629 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormal rib morphology, Delayed skeletal maturation, Brachydactyly, Abnormal epiphysis morpholog... |
ORPHA:2643 |
| Greenberg Dysplasia |
|
Short ribs, Short long bone, Decreased skull ossification, Short metacarpal, Multiple prenatal fr... |
OMIM:215140 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Excessive wrinkled skin, Dandy-Walker malformation, Redundant skin, Subretin... |
ORPHA:357074 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Stillbirth, Redundant neck skin, Clinodactyly of the 5th finger, Hydranencephaly, 2-3 toe syndact... |
OMIM:236500 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral atrophy, Death in childhood, Small for gestational age, Lateral ventricle dilatation |
OMIM:619847 |
| High Altitude Pulmonary Edema |
|
Tachycardia, Hypoxemia, Cyanosis, Pulmonary edema |
ORPHA:330012 |
| Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of... |
ORPHA:99050 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Micromelia, Decreased calvarial ossification, Joint hypermobility, Ventr... |
ORPHA:2772 |
| Neuralgic Amyotrophy |
|
Redundant neck skin, Scapular winging, Sprengel anomaly, Syndactyly, Upper limb pain |
ORPHA:2901 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Congenital Fibrinogen Deficiency |
|
Cyanosis, Clubbing of fingers, Internal hemorrhage, Opisthotonus, Tachycardia, Bruising susceptib... |
ORPHA:335 |
| Hypophosphatasia |
|
Abnormal metaphysis morphology, Emphysema, Narrow chest, Bowing of the long bones, Abnormal rib m... |
ORPHA:436 |
| Shprintzen-Goldberg Syndrome |
|
Abnormal form of the vertebral bodies, Pectus carinatum, Pectus excavatum, Joint stiffness, Arach... |
ORPHA:2462 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dislocated radial head, Pectus carinatum, Pectus excavatum, Arachnodactyly, Umbilical hernia, Joi... |
OMIM:182212 |
| Craniodiaphyseal Dysplasia |
|
Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology |
ORPHA:1513 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism |
OMIM:105500 |
| Pseudo-Torch Syndrome 3 |
|
Hypertension, Cerebral hemorrhage, Death in infancy |
OMIM:618886 |
| Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Thin ribs, Vertebral compression fracture, Umbilical hernia |
OMIM:617952 |
| Neonatal Marfan Syndrome |
|
Emphysema, Aortic root aneurysm, Pectus carinatum, Ascending tubular aorta aneurysm, Enlarged tho... |
ORPHA:284979 |
| Mucopolysaccharidosis, Type Vii |
|
Narrow greater sciatic notch, Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Car... |
OMIM:253220 |
| Acquired Methemoglobinemia |
|
Tachycardia, Hypoxemia, Arrhythmia, Syncope, Palpitations, Cyanosis |
ORPHA:464453 |
| Fountain Syndrome |
|
Hyperextensible skin, Abnormal metacarpal morphology, Spina bifida occulta, Abnormal form of the ... |
ORPHA:3219 |
| Osteogenesis Imperfecta, Type Ii |
|
Absent ossification of calvaria, Pulmonary insufficiency, Congestive heart failure, Platyspondyly... |
OMIM:166210 |
| Criss-Cross Heart |
|
Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve... |
ORPHA:1461 |
| Cartilage-Hair Hypoplasia |
|
Abnormal bone ossification, Biconvex vertebral bodies, Abnormal hip bone morphology, Abnormal for... |
ORPHA:175 |
| Auriculocondylar Syndrome 2B |
|
Abnormality of the cervical spine, Omphalocele |
OMIM:620458 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Large for gestational age, Patent ductus arteriosus, Neuronal loss in central nervous system, Elb... |
OMIM:300868 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... |
ORPHA:2232 |
| Asbestos Intoxication |
|
Clubbing of fingers, Hepatojugular reflux, Hypoxemia, Right ventricular failure, Edema, Cyanosis,... |
ORPHA:2302 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebral atrophy, Death in childhood, Hydrocephalus, Cerebellar atrophy, Death in infancy, Failur... |
OMIM:616034 |
| Ciliary Dyskinesia, Primary, 20 |
|
Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ... |
OMIM:615067 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Kyphoscoliosis, Thoracic kyphosis, Lumbar interpedicular narrowing, Narrow vertebral interpedicul... |
OMIM:271510 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Antenatal intracerebral hemorrhage, Knee flexion contracture, Polymicrogyria, Elbow flexion contr... |
OMIM:608836 |
| Hereditary Hemorrhagic Telangiectasia |
|
Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Arteriovenous malforma... |
ORPHA:774 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic lef... |
OMIM:616276 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Dysplastic corpus callosum, Postnatal growth retardation, Abnormal bleeding, Inguinal hernia, Wid... |
ORPHA:357058 |
| 47,Xyy Syndrome |
|
Male infertility, Increased serum testosterone level, Hypospadias, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation |
OMIM:301025 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Hammertoe, Hydrocephalus, Scoliosis, Failure to thrive, Micrognathia, Colpocephaly, Distal arthro... |
OMIM:619833 |
| Trisomy 1Q |
|
Congenital diaphragmatic hernia, Hydrocephalus, Omphalocele, Camptodactyly of finger, Agenesis of... |
ORPHA:261344 |
| Miller-Dieker Lissencephaly Syndrome |
|
Inguinal hernia, Agyria, Gray matter heterotopia, Camptodactyly, Omphalocele, Pachygyria, Intraut... |
OMIM:247200 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot |
ORPHA:217 |
| Gabriele-De Vries Syndrome |
|
Sandal gap, Hallux valgus, Long fingers, Micrognathia, Distal arthrogryposis, Lateral ventricle d... |
OMIM:617557 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Clinodactyly of the 5th finger, Bradycardia, Joint contracture of the 5th finger, Intention tremo... |
OMIM:614407 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
| Parkes Weber Syndrome |
|
Abnormal bleeding, Spinal arteriovenous malformation, Arteriovenous malformation, Venous malforma... |
ORPHA:90307 |
| 3M Syndrome |
|
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic ischia, Hypoplastic pel... |
ORPHA:2616 |
| Pituitary Gigantism |
|
Premature pubarche, Increased circulating prolactin concentration, Pituitary growth hormone cell ... |
ORPHA:99725 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Abnormal adipose tissue morphology, Inguinal hernia, Abnormal de... |
ORPHA:2092 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Abnormal lung lobation, Hydrocephalus, Abnormally ossified vertebrae, Missing ribs, Abnormal rib ... |
ORPHA:3301 |
| Short-Rib Thoracic Dysplasia 12 |
|
Anencephaly, Short ribs, Short long bone, Short finger, Short thorax, Hydrocephalus, Short palm, ... |
OMIM:269860 |
| Renal Hypodysplasia/Aplasia 2 |
|
Redundant skin, Pulmonary hypoplasia |
OMIM:615721 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Abnormal form of the vertebral bodies, Broad clavicles, Omphalocele |
ORPHA:371428 |
| Pseudotrisomy 13 Syndrome |
|
Hemivertebrae, 11 pairs of ribs, Encephalocele, Omphalocele |
OMIM:264480 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Intraventricular hemorrhage, Telangiectasia |
ORPHA:420741 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:2759 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Redundant skin, Increased number of skin folds, Cutis laxa, Joint hypermobil... |
ORPHA:90348 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus |
OMIM:617044 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Narrow chest, 2-3 toe syndactyly, Dry skin, Postaxial polydactyly, Cutis ... |
OMIM:614099 |
| Mucopolysaccharidosis, Type Vi |
|
Kyphoscoliosis, Cervical myelopathy, Pectus carinatum, Hypoplastic iliac wing, Sinus tachycardia,... |
OMIM:253200 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Lambdoidal craniosynostosis, Platyspondyly, Hydrocephalus, Thin ribs, Narrow iliac wi... |
OMIM:616294 |
| Superficial Siderosis |
|
Limb ataxia, Babinski sign, Persistent bleeding after trauma, Abnormal bleeding, Arteriovenous ma... |
ORPHA:247245 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Hydrocephalus, Scarring, Intracranial hemorrhage |
ORPHA:398189 |
| Laryngeal Abductor Paralysis |
|
Cyanosis, Talipes equinovarus |
OMIM:150260 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Platyspondyly, Flared, irregular rib ends, Pear-shaped vertebrae, Irregular sclerotic endplates |
OMIM:602111 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma... |
ORPHA:244 |
| Menkes Disease |
|
Abnormal carotid artery morphology, Spontaneous hematomas, Gastrointestinal hemorrhage, Pectus ex... |
ORPHA:565 |
| Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Tracheomalacia, Aspiration pneumonia, Obesity, Brachydactyly, Pa... |
OMIM:616368 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani... |
ORPHA:276621 |
| Mucolipidosis Ii Alpha/Beta |
|
Beaking of vertebral bodies T12-L3, Atlantoaxial dislocation, Inguinal hernia, Diastasis recti, T... |
OMIM:252500 |
| Cleidocranial Dysplasia |
|
Decreased skull ossification, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnormal... |
ORPHA:1452 |
| Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Kyphoscoliosis, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Hyperextensible skin, ... |
OMIM:612350 |
| Osteogenesis Imperfecta, Type X |
|
Inguinal hernia, Vertebral compression fracture, Narrow chest, Thin ribs, Scoliosis, Dentinogenes... |
OMIM:613848 |
| Acquired Purpura Fulminans |
|
Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Intracranial hemorrhage, Shock |
ORPHA:49566 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm, Omphalocele, Coronal craniosynostosis, Short stature, Sagittal craniosynost... |
OMIM:145420 |
| Cantu Syndrome |
|
Patent ductus arteriosus, Narrow chest, Lymphedema, Pericardial effusion, Ovoid vertebral bodies,... |
OMIM:239850 |
| Prolactinoma |
|
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... |
ORPHA:2965 |
| Indomethacin Embryofetopathy |
|
Atrial septal defect, Ventricular septal defect, Cardiomyopathy |
ORPHA:1909 |
| Lissencephaly 6 With Microcephaly |
|
Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Perivent... |
OMIM:616212 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Kyphoscoliosis, Flexion contracture of toe, Inguinal hernia, Shoulder flexion contracture, Pectus... |
OMIM:255800 |
| Achondrogenesis, Type Ia |
|
Hypoplastic sacrum, Abnormal foot bone ossification, Broad clavicles, Abnormal hand bone ossifica... |
OMIM:200600 |
| Hereditary Methemoglobinemia |
|
Athetosis, Limb dystonia, Cyanosis |
ORPHA:621 |
| Familial Isolated Dilated Cardiomyopathy |
|
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, Dilated cardi... |
ORPHA:154 |
| Otopalatodigital Syndrome, Type I |
|
Limited elbow extension, Capitate-hamate fusion, Dislocated radial head, Synostosis of carpal bon... |
OMIM:311300 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... |
OMIM:271640 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Kyphoscoliosis, Abnormal shoulder morphology, Barrel-shaped chest, Intervertebral space narrowing... |
ORPHA:93284 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circulating gonadotrop... |
OMIM:110100 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Thin ribs, Cerebellar atrophy, Decreased body weight, Flexion contrac... |
OMIM:614833 |
| Ogden Syndrome |
|
Redundant neck skin, Sandal gap, Redundant skin, Pectus excavatum, Premature ventricular contract... |
OMIM:300855 |
| Odontochondrodysplasia |
|
Platyspondyly, Scoliosis, Dentinogenesis imperfecta, Narrow chest |
ORPHA:166272 |
| Dyggve-Melchior-Clausen Disease |
|
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... |
OMIM:223800 |
| Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Wide anterior fontanel, Scoliosis, Thin ribs, Tibial bowing, Kyphosis, Pulmona... |
OMIM:259420 |
| 3Mc Syndrome 1 |
|
Postnatal growth retardation, Lambdoidal craniosynostosis, Spina bifida occulta, Wide anterior fo... |
OMIM:257920 |
| Aortic Arch Interruption |
|
Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona... |
ORPHA:2299 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Kyphoscoliosis, Osteopenia, Hyperextensible skin, Joint hypermobility, Bruising susceptibility, A... |
ORPHA:300179 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormality of the pulmonary artery, Abnormal aortic morphology, Ventricular septal defect, Tetra... |
ORPHA:1166 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode |
OMIM:610992 |
| Truncus Arteriosus |
|
Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ... |
ORPHA:3384 |
| Chromosome 10Q26 Deletion Syndrome |
|
Scapular winging, Pectus excavatum, Omphalocele, Short neck, Lumbar hyperlordosis |
OMIM:609625 |
| Tetrasomy 5P |
|
Congestive heart failure, Redundant neck skin, Clinodactyly of the 5th finger, Recurrent respirat... |
ORPHA:3309 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Inguinal hernia, Vertebral compression fracture, Wide anterior fontanel, Sco... |
OMIM:610915 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Cutis laxa, Micrognathia |
OMIM:301045 |
| Iniencephaly |
|
Congenital diaphragmatic hernia, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Myelomeni... |
ORPHA:63259 |
| 46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Ventricular septal defect, Hypoplastic left heart |
OMIM:618901 |
| Prune Belly Syndrome |
|
Scoliosis, Vertebral segmentation defect, Aplasia/Hypoplasia of the lungs, Pectus excavatum, Abno... |
ORPHA:2970 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormality of the vertebral column, Vertebral wedging, Pectus carinatum, Scoliosis, Thoracic kyp... |
ORPHA:93314 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Cervical platyspondyly, Scoliosis, Colpocephaly |
OMIM:618731 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Pectus carinatum, Kyphosis, Abnormal rib morphology, Hernia of the abdominal wall, Short neck |
ORPHA:3082 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Pectus carinatum, Short ribs, Death in infancy, Delayed skeletal mat... |
OMIM:224690 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Platyspondyly, Rhizomelia, Vertebral compression fracture, Narrow chest, Small for ge... |
OMIM:616229 |
| Variegate Porphyria |
|
Paralysis, Tachycardia |
OMIM:176200 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:619717 |
| Costello Syndrome |
|
Redundant skin, Hypertrophic cardiomyopathy, Cerebral cortical atrophy, Delayed skeletal maturati... |
ORPHA:3071 |
| Campomelic Dysplasia |
|
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Tracheobronchomalacia, Pectu... |
OMIM:114290 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Congenital diaphragmatic hernia, Omphalocele |
OMIM:601163 |
| Dysmorphism-Cleft Palate-Loose Skin Syndrome |
|
Micrognathia, Redundant skin |
ORPHA:1779 |
| Gapo Syndrome |
|
Bell-shaped thorax, Wide anterior fontanel, Scoliosis, Delayed cranial suture closure, Redundant ... |
OMIM:230740 |
| Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Neurodegeneration, Cerebellar atrophy |
ORPHA:438134 |
| Arterial Tortuosity Syndrome |
|
Rocker bottom foot, Abnormal carotid artery morphology, Redundant skin, Hypertension, Arachnodact... |
ORPHA:3342 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Death in childhood, Emphysema, Atelectasis, Sandal gap, Tracheomalacia, Vascular dila... |
OMIM:613177 |
| 15Q11.2 Microdeletion Syndrome |
|
Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo... |
ORPHA:261183 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Thoracic dysplasia, Horizontal ribs |
OMIM:615633 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect |
OMIM:615731 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Rocker bottom foot, Proximal placement of hallux, Sacral dimple, Proximal placement of thumb, San... |
OMIM:613458 |
| Alg12-Cdg |
|
Prolonged prothrombin time, Abnormal bone ossification, Clinodactyly of the 5th finger, Proximal ... |
ORPHA:79324 |
| Hellp Syndrome |
|
Prolonged prothrombin time, Pulmonary edema, Pleural effusion, Hypotension, Internal hemorrhage, ... |
ORPHA:244242 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu... |
ORPHA:89844 |
| Glutaric Acidemia I |
|
Hydrocephalus, Failure to thrive, Lateral ventricle dilatation |
OMIM:231670 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... |
ORPHA:99104 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Cerebral atrophy, Hydrocephalus, Congenital contracture, Micrognathia, Colpocephaly, Brachydactyl... |
OMIM:620156 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Butterfly vertebrae, Global brain atrophy, Redundant neck skin, Talipes equin... |
OMIM:301056 |
| Elastosis Perforans Serpiginosa |
|
Cutis laxa |
ORPHA:79148 |
| Cloacal Exstrophy |
|
Hemivertebrae, Myelomeningocele, Omphalocele, Spina bifida, Bladder exstrophy, Cloacal exstrophy |
ORPHA:93929 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Excessive wrinkled skin, Elbow flexion contracture, Osteoporosis, Cutis laxa, Flexion... |
OMIM:614438 |
| 3-Hydroxyisobutyric Aciduria |
|
Abnormality of neuronal migration |
OMIM:236795 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Abnormal vertebral morphology, Abnormal diaphysis morphology, Hydro... |
ORPHA:93473 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
| Primary Progressive Freezing Gait |
|
Lewy bodies, Cerebral cortical atrophy |
ORPHA:75567 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Cervical myelopathy, Barrel-shaped chest, Pectus carinatum, Scoliosis, Kyphosis, Atlantoaxial ins... |
OMIM:183900 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Lewy bodies, Cerebral atrophy, Substantia nigra gliosis |
OMIM:600116 |
| 49,Xyyyy Syndrome |
|
Increased circulating gonadotropin level, External genital hypoplasia, Azoospermia, Abnormality o... |
ORPHA:99330 |
| Gangliocytoma |
|
Adrenocorticotropic hormone excess, Abnormal pituitary gland morphology, Impotence, Abnormal prol... |
ORPHA:251937 |
| Brachydactylous Dwarfism, Mseleni Type |
|
Platyspondyly |
ORPHA:2619 |
| Pde4D Haploinsufficiency Syndrome |
|
Caudal interpedicular narrowing, Abnormal dental enamel morphology, Irregular vertebral endplates |
ORPHA:439822 |
| Complete Atrioventricular Septal Defect |
|
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... |
ORPHA:1329 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Pulmonary artery atresia, Tetralogy of Fallot, Atrial septal defect, Ven... |
OMIM:612946 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Redundant neck skin, Hydranencephaly, Hydrocephalus, Brain atrophy, Dandy-Walker malformation, Ho... |
OMIM:617967 |
| Coffin-Lowry Syndrome |
|
Lumbar kyphosis, Bifid sternum, Hyperextensibility of the finger joints, Scoliosis, Pectus carina... |
OMIM:303600 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Pulmonary embolism, Gastrointestinal hemorrhage, Genu valgum, Arteriovenous malformation, Pectus ... |
ORPHA:394 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Hyperextensible skin, Joint dislocation, Scoliosis, Coxa vara, Joint stiffness, Micrognathia, Hip... |
ORPHA:1899 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Inguinal hernia, Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs |
OMIM:619122 |
| Bruck Syndrome |
|
Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis |
ORPHA:2771 |
| Garg-Mishra Progeroid Syndrome |
|
Platyspondyly, Thin ribs, Ovoid vertebral bodies, Narrow chest |
OMIM:620601 |
| Recombinant 8 Syndrome |
|
Clinodactyly of the 5th finger, Abnormal sternum morphology, Scoliosis, Redundant skin, Pectus ex... |
ORPHA:96167 |
| Autosomal Recessive Stickler Syndrome |
|
Platyspondyly, Irregular vertebral endplates |
ORPHA:250984 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Anterior hypopituit... |
ORPHA:2235 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Osteopenia, Talipes valgus, Clinodactyly of the 5th finger, Clubbing of fingers, Pectus carinatum... |
OMIM:620083 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal bone ossification, Generalized bone demineralization, Abnormal diaphysis morphology, Nar... |
ORPHA:73230 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Abnormality of... |
ORPHA:3130 |
| Congenital Hydrocephalus |
|
Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Platyspondyly |
OMIM:601438 |
| Wrinkly Skin Syndrome |
|
Kyphoscoliosis, Osteopenia, Excessive wrinkled skin, Excessive skin wrinkling on dorsum of hands ... |
ORPHA:2834 |
| Parkinson Disease, Late-Onset |
|
Lewy bodies, Substantia nigra gliosis |
OMIM:168600 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Elbow flexion contracture, Short stature, Abnormality of neuronal migration, Achilles tendon cont... |
OMIM:608840 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Kyphoscoliosis, Flared iliac wing, Delayed skeletal maturation, Flattened epiphysis, Wormian bone... |
OMIM:300232 |
| Yuan-Harel-Lupski Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu... |
OMIM:616652 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele |
ORPHA:65 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Lumbar platyspondyly, Intervertebral space narrowing, Abnormal lumbar spine morphology, Biconcave... |
ORPHA:166011 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Posterior rib fusion, Ventriculomegaly, Alveolar capillary dysplasia, Misalignment of the pulmona... |
OMIM:265380 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Hip subluxation, Abnormal vertebral morphology, Fibular hypoplasia, Cer... |
ORPHA:444077 |
| Thoracoabdominal Syndrome |
|
Congenital diaphragmatic hernia, Transposition of the great arteries, Ventral hernia, Anencephaly... |
OMIM:313850 |
| Shprintzen Omphalocele Syndrome |
|
Narrow chest, Scoliosis, Kyphosis, Omphalocele, Lumbar hyperlordosis |
OMIM:182210 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Platyspondyly |
OMIM:619598 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Omphalocele, Vascular ring, Patent ductus arteriosus, Overriding aorta |
OMIM:601927 |
| Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
| Cantú Syndrome |
|
Narrow chest, Umbilical hernia, Ovoid vertebral bodies, Broad ribs, Platyspondyly, Short neck, Cu... |
ORPHA:1517 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Clitoral hypoplasia, Elevated circulating follicle stimulating hormone level,... |
OMIM:618419 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Pneumothorax, Congestive heart failure, Emphysema, Vascular dilatation, Joint subluxation, Abnorm... |
ORPHA:90349 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Vascular dilatation, Hematochezia |
OMIM:277175 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormal vertebral morphology, Cervical instability, Abnormally ossified vertebrae, Platyspondyly... |
ORPHA:93346 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hyperhidrosis, Hypogonadis... |
ORPHA:91347 |
| Kniest Dysplasia |
|
Inguinal hernia, Pectus excavatum, Hip contracture, Coronal cleft vertebrae, Lumbar kyphoscoliosi... |
OMIM:156550 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebral atrophy, Cerebellar atrophy, Cardiomyopathy, Dilated fourth ventricle, Lateral ventricle... |
ORPHA:572798 |
| Fetal Trimethadione Syndrome |
|
Ventricular septal defect, Atrial septal defect, Transposition of the great arteries, Tetralogy o... |
ORPHA:1913 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Spinal rigidity, Scoliosis, Pectus excavatum, Dry skin, Overweight, Abnormal elasticity of skin, ... |
ORPHA:486815 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Edema |
OMIM:610158 |
| Blepharonasofacial Malformation Syndrome |
|
Joint hypermobility, Redundant skin, Finger syndactyly |
ORPHA:1252 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Narrow chest, Wide anterior fontanel, Thoracic kyphosis, Anisospondyly, Ovoid vertebral bodies, P... |
ORPHA:163649 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Platyspondyly, Thoracic kyphosis |
OMIM:619638 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Rickets, Enlargement of the costochondral junction, Fibular bowing, Enlargement of the wrists, Bo... |
OMIM:600081 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... |
ORPHA:64739 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Cutis laxa, Ankle clonus |
OMIM:619691 |
| Developmental And Epileptic Encephalopathy 89 |
|
Scoliosis, Flexion contracture, Narrow chest, Omphalocele |
OMIM:619124 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Tremor, Vocal cord paralysis |
OMIM:158580 |
| Oeis Complex |
|
11 pairs of ribs, Hemivertebrae, Myelomeningocele, Omphalocele, Sacral segmentation defect, Absen... |
OMIM:258040 |
| Maternal Phenylketonuria |
|
Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric... |
ORPHA:2209 |
| X-Linked Intellectual Disability, Wilson Type |
|
Lateral ventricle dilatation |
ORPHA:85290 |
| Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Beaking of vertebral bodies, Ovoid thoracolumbar vertebrae, Thickened ribs, Hernia |
OMIM:252930 |
| Seckel Syndrome 10 |
|
Diabetes mellitus, Acute pancreatitis, Elevated circulating luteinizing hormone level, Elevated c... |
OMIM:617253 |
| Leri Pleonosteosis |
|
Abnormal metaphysis morphology, Cubitus valgus, Abnormal metacarpal morphology, Abnormal form of ... |
ORPHA:2900 |
| Chromosome 9P Deletion Syndrome |
|
Short neck, Scoliosis, Inguinal hernia, Omphalocele |
OMIM:158170 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Large fontanelles, Inguinal hernia, Aortic root aneurysm, Omphal... |
ORPHA:2745 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Medulloblastoma |
|
Spinal cord tumor, Cerebellar hemorrhage, Progressive cerebellar ataxia, Cerebellar ataxia associ... |
ORPHA:616 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Short ribs, Short long bone, Cupped ribs, Metaphyseal irregularity, Joint hypermobility, Genu var... |
OMIM:250420 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:261120 |
| Idiopathic Camptocormia |
|
Lewy bodies, Abnormal basal ganglia morphology, Cerebral atrophy, Abnormal cerebral white matter ... |
ORPHA:1320 |
| Osteopathia Striata With Cranial Sclerosis |
|
Flexion contracture of toe, Spina bifida occulta, Straight clavicles, Scoliosis, Pectus excavatum... |
OMIM:300373 |
| Odontochondrodysplasia 1 |
|
Biconvex vertebral bodies, Narrow chest, Pectus carinatum, Scoliosis, Coronal cleft vertebrae, De... |
OMIM:184260 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Narrow chest, Short metacarpal, Abnormal rib morphology, Rhizomelic arm shortening, ... |
ORPHA:93317 |
| Generalized Arterial Calcification Of Infancy |
|
Calcification of the aorta, Hypertension, Abnormal retinal artery morphology, Stippled calcificat... |
ORPHA:51608 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal metacarpal morphology, Abnormal form o... |
ORPHA:3258 |
| Joubert Syndrome 14 |
|
Optic atrophy, Encephalocele, Meningocele, Hypertension, Intracranial hemorrhage |
OMIM:614424 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Subperiosteal bone formation, Patent ductus arteriosus, Narrow chest, Thin ribs, Frac... |
OMIM:618188 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Tremor, Opisthotonus, Cyanosis |
OMIM:250800 |
| Mosaic Trisomy 8 |
|
Clinodactyly of the 5th finger, Narrow chest, Scoliosis, Vertebral segmentation defect, Limitatio... |
ORPHA:96061 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Dilation of Virchow-Robin spaces, Cutis laxa, Obesity, Joint hypermobi... |
OMIM:605309 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Narrow chest, Metopic synostosis, Short ribs, Postaxial hand polydactyly... |
OMIM:613610 |
| Halperin-Birk Syndrome |
|
Semilobar holoprosencephaly, Death in childhood, Failure to thrive, Micrognathia, Colpocephaly, F... |
OMIM:618651 |
| Bardet-Biedl Syndrome 19 |
|
Partial atrioventricular canal defect, Patent ductus arteriosus, Atrial septal defect, Ventricula... |
OMIM:615996 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Split hand, Abnormal rib morphology, Micromelia, Micrognathia, Brachydactyly, ... |
ORPHA:2145 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Renpenning Syndrome |
|
Abnormal thumb morphology, Clinodactyly of the 5th finger, Cachexia, Pectus excavatum, Abnormal r... |
ORPHA:3242 |
| Fontaine Progeroid Syndrome |
|
Redundant skin, Death in infancy, Delayed skeletal maturation, Recurrent aspiration pneumonia, Sy... |
OMIM:612289 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Abnormal rib morphology, Hypoplastic distal segments of scapulae, Micrognathia,... |
OMIM:602196 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At... |
OMIM:612561 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Intrauterine growth retardation, Delayed cranial suture closure, Large fontanelles |
ORPHA:1832 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Hyperextensible skin, Aortic regurgitation, Genu recurvatum, Calcaneovalgus deformity, Pectus exc... |
OMIM:225320 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Premature coronary artery atherosclerosis |
OMIM:610947 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:614262 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Abnormality of the fontanelles or cranial sutures, Anencephaly, ... |
ORPHA:3380 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Pectus excavatum, Arterial dissection, Umbilical hernia, Joint hypermobi... |
ORPHA:1900 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasi... |
OMIM:233420 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Arteriovenous malformation, Aortic aneurysm, Angina pectoris, Cachexia, Scoliosis, Pectus excavat... |
ORPHA:109 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Kyphoscoliosis, Aortic regurgitation, Intervertebral space narrowing, Barrel-shaped chest, Should... |
OMIM:143095 |
| Granulomatous Slack Skin |
|
Cutis laxa, Redundant skin, Erythema |
ORPHA:33111 |
| Cerebral Visual Impairment |
|
Ischemic stroke, Hydrocephalus, Central nervous system degeneration, Intracranial hemorrhage, Neu... |
ORPHA:447788 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Agenesis of corpus callosum |
OMIM:619466 |
| Fibrinolytic Defect |
|
Spontaneous hematomas, Hyperextensible skin |
OMIM:134900 |
| Cardiac Diverticulum |
|
Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p... |
ORPHA:1686 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani... |
ORPHA:29072 |
| Progressive Pseudorheumatoid Dysplasia |
|
Kyphoscoliosis, Camptodactyly of finger, Decreased cervical spine mobility, Platyspondyly, Sclero... |
OMIM:208230 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Subependymal nodules, Pallidal degeneration, Retinal hemorrhage, Communicating... |
ORPHA:25 |
| Viss Syndrome |
|
Rocker bottom foot, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Recurr... |
OMIM:619472 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Short metacarpal, Cutis lax... |
OMIM:150230 |
| Grange Syndrome |
|
Bicuspid aortic valve, Renal artery stenosis, Carotid artery stenosis, Coronary artery stenosis |
OMIM:602531 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:1388 |
| Eosinophilic Fasciitis |
|
Edema, Muscular edema, Acrocyanosis |
ORPHA:3165 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Hydrocephalus, Dandy-Walker malformation, Missing ribs, Abnormal rib morpholog... |
ORPHA:1647 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Platyspondyly, Wide anterior fontanel |
OMIM:601356 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Hyperextensible skin, Recurrent lower respiratory tract infections, Joint dislocation, Aortic roo... |
OMIM:130000 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:607778 |
| Keppen-Lubinsky Syndrome |
|
Scoliosis, Failure to thrive, Micrognathia, Recurrent pneumonia, Flexion contracture, Lateral ven... |
OMIM:614098 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... |
ORPHA:91351 |
| Yellow Nail Syndrome |
|
Lymphedema, Predominantly lower limb lymphedema |
OMIM:153300 |
| Adenohypophysitis |
|
Abnormal thalamic MRI signal intensity, Reduced circulating prolactin concentration, Decreased ma... |
ORPHA:95512 |
| 1p36 microdeletion syndrome |
|
Delayed cranial suture closure |
DECIPHER:18 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Athetosis, Hypertension, Cerebral palsy, Pulmonary arterial hypertension, Spastic paraplegia, Epi... |
ORPHA:369929 |
| Pagod Syndrome |
|
Congenital diaphragmatic hernia, Encephalocele, Meningocele, Abnormal aortic morphology, Pulmonar... |
ORPHA:991 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column |
OMIM:601076 |
| Stickler Syndrome Type 1 |
|
Platyspondyly, Abnormal vertebral epiphysis morphology |
ORPHA:90653 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,... |
OMIM:617168 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Inguinal hernia, Scoliosis, Kyphosis, Hypoplastic vertebral bodies, ... |
OMIM:230500 |
| Li-Campeau Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus |
OMIM:619189 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Kyphoscoliosis, Osteopenia, Hyperextensible skin, Patent ductus arteriosus, Tricuspid regurgitati... |
OMIM:614557 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Primary hyperparathyroidism, Hypothyroidism, Hashimoto thyroiditis, C... |
OMIM:610755 |
| Familial Hyperaldosteronism Type I |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:403 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Platyspondyly, Ovoid vertebral bodies, Abnormality of the vertebral endplates |
ORPHA:1856 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Death in childhood, Vascular dilatation, Bell-shaped thorax, Narrow chest, Hypertension, Short ri... |
OMIM:613320 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... |
ORPHA:1772 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Atelectasis, Thin ribs, Death in infancy, Neonatal death, Joint hypermobility |
OMIM:300219 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:164180 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin, Abnormal sacroiliac joint morphology |
ORPHA:1807 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Clinodactyly of the 5th finger, Pectus excavatum, Camptodactyly, Short foot, Metatarsus adductus,... |
OMIM:227330 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Hypertrophic cardiomyopathy |
OMIM:610773 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:617672 |
| Familial Hyperaldosteronism Type Ii |
|
Hypertension, Epistaxis, Intracranial hemorrhage |
ORPHA:404 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As... |
ORPHA:3092 |
| Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones |
ORPHA:2773 |
| Farber Disease |
|
Short finger, Abnormality of the wrist, Atelectasis, Arthritis, Abnormal sternum morphology, Brai... |
ORPHA:333 |
| Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Pectus carinatum, Scoliosis, Enlarged thorax, Dentinogenesis imperfecta, Umbilica... |
OMIM:614856 |
| Pheochromocytoma |
|
Congestive heart failure, Episodic hypertension, Renal artery stenosis, Cerebral hemorrhage, Posi... |
OMIM:171300 |
| Cocaine Intoxication |
|
Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H... |
ORPHA:90068 |
| Panhypophysitis |
|
Abnormal thalamic MRI signal intensity, Central diabetes insipidus, Reduced circulating prolactin... |
ORPHA:95513 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, Primary... |
ORPHA:247768 |
| Alpha-Mannosidosis, Infantile Form |
|
Pectus carinatum, Cerebellar atrophy, Pectus excavatum, Joint stiffness, Umbilical hernia, Joint ... |
ORPHA:309282 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Pulmonary artery atresia, Abnormal heart morphology, Atrial septal defect, Ve... |
ORPHA:401935 |
| Acute Interstitial Pneumonia |
|
Hypertension, Pleural effusion, Pericardial effusion, Hypoxemia, Peripheral edema, Cyanosis |
ORPHA:79126 |
| Pseudoachondroplasia |
|
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Scoliosis, Cervical spine ins... |
ORPHA:750 |
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Sex reversal, Adrenocorticotropic hormone excess, Adrenal insufficiency |
OMIM:613743 |
| Capillary Malformation-Arteriovenous Malformation |
|
Congestive heart failure, Abnormal bleeding, Arteriovenous malformation, Chylothorax, Arterioveno... |
ORPHA:137667 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Bruising susceptibility, Intracranial hemorrhage |
ORPHA:3226 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Acro-Renal-Mandibular Syndrome |
|
Pectus carinatum, Kyphosis, Split foot, Hip dislocation, Abnormal clavicle morphology, Butterfly ... |
ORPHA:958 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus |
OMIM:614886 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Small for gestational age, Lateral ventricle dilatation |
OMIM:619278 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Hyperextensible skin |
OMIM:619764 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Narrow vertebral interpedicular distance, Spinal canal stenosis, Scoliosis, Hypoplastic vertebral... |
OMIM:101800 |
| Extracranial Carotid Artery Aneurysm |
|
Arteriosclerosis, Arteritis, Vasculitis, Stroke, Hypertension, Cerebral ischemia, Total anomalous... |
ORPHA:494424 |
| Cornelia De Lange Syndrome 6 |
|
Clinodactyly of the 5th finger, Pectus carinatum, Scoliosis, Pulmonary artery atresia, Delayed sk... |
OMIM:620568 |
| Elastoderma |
|
Cutis laxa, Premature skin wrinkling |
ORPHA:228240 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Vertebral segmentation defect, Missing ribs, Omphalocele |
ORPHA:3186 |
| Pelviscapular Dysplasia |
|
Redundant neck skin, Abnormality of the joint spaces of the elbow, Elbow flexion contracture, Hyp... |
ORPHA:93333 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... |
OMIM:174800 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Platyspondyly, Short neck |
OMIM:618958 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Cutis laxa, Delayed skeletal maturation, Broad hallux, Syndactyly, Brachy... |
OMIM:614800 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Short neck, Barrel-shaped chest, Lumbar hyperlordosis |
OMIM:612813 |
| Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck, Hernia, Broad ribs |
ORPHA:583 |
| Propionic Acidemia |
|
Cerebral atrophy, Cerebellar hemorrhage, Cardiomyopathy, Osteoporosis, Failure to thrive |
OMIM:606054 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ... |
ORPHA:2326 |
| Hydranencephaly |
|
Postnatal growth retardation, Abnormality of fontanelles, Abnormal internal carotid artery morpho... |
ORPHA:2177 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites, Chylous asci... |
OMIM:265300 |
| Glutathionuria |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:231950 |
| Bladder Exstrophy |
|
Umbilical hernia, Omphalocele, Inguinal hernia, Bladder exstrophy |
ORPHA:93930 |
| Schwartz-Jampel Syndrome |
|
Spinal rigidity, Flexion contracture of toe, Pectus carinatum, Cachexia, Hyperlordosis, Wrist fle... |
ORPHA:800 |
| Hutchinson-Gilford Progeria Syndrome |
|
Reduced bone mineral density, Hypertension, Limitation of movement at ankles, Joint stiffness, Ao... |
ORPHA:740 |
| Gracile Bone Dysplasia |
|
Flared metaphysis, Hydrocephalus, Slender long bone, Thin ribs, Decreased skull ossification, Dea... |
OMIM:602361 |
| Chiari Malformation Type Ii |
|
Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen... |
OMIM:207950 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hypermobility of distal interphalangeal joints, Sandal gap, Pectus excavatum, Joi... |
ORPHA:230851 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Rickets, Hypophosphatemic rickets, Enlargement of the costochondral junction, Fibular bowing, Enl... |
OMIM:241530 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Hyperextensible skin, Spina bifida occulta, Stroke, Precocious ather... |
ORPHA:230839 |
| C1Q Deficiency 2 |
|
Facial erythema, Atelectasis, Recurrent lower respiratory tract infections, Arthritis, Vasculitis... |
OMIM:620321 |
| Codas Syndrome |
|
Scoliosis, Omphalocele, Enamel hypoplasia, Lumbar scoliosis, Hypoplasia of the odontoid process, ... |
OMIM:600373 |
| Familial Hyperaldosteronism Type Iii |
|
Hypertension, Prolonged QT interval, Epistaxis, Intracranial hemorrhage |
ORPHA:251274 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Severely r... |
ORPHA:444013 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Cutis laxa, Failure to thrive, Dry skin |
OMIM:612379 |
| Hurler Syndrome |
|
Calvarial hyperostosis, Cardiomyopathy, Kyphosis, Flared iliac wing, Joint stiffness, Biconcave v... |
OMIM:607014 |
| Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Abnormal thumb morphology, Radial club hand, Triphalangeal thumb, Sandal ... |
ORPHA:959 |
| Melnick-Needles Syndrome |
|
Kyphoscoliosis, Narrow chest, Short clavicles, Pectus excavatum, Omphalocele, Anterior concavity ... |
OMIM:309350 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Vertebral wedging, Short ribs, Missing ribs, Thoracic hypoplasia, Platyspondyly |
OMIM:617866 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Kyphoscoliosis, Pneumothorax, Congestive heart failure, Redundant skin, Ascending tubular aorta a... |
OMIM:617403 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Failure to thrive, Agenesi... |
OMIM:300952 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:2184 |
| Wrinkly Skin Syndrome |
|
Redundant skin, Pectus excavatum, Kyphosis, Umbilical hernia, Joint hypermobility, Delayed closur... |
OMIM:278250 |
| Galloway-Mowat Syndrome |
|
Aqueductal stenosis, Short stature, Camptodactyly of finger, Abnormality of neuronal migration, P... |
ORPHA:2065 |
| Williams Syndrome |
|
Abnormal carotid artery morphology, Abnormal form of the vertebral bodies, Redundant skin, Hyperl... |
ORPHA:904 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3469 |
| Monosomy 9Q22.3 |
|
Polydactyly, Large for gestational age, Abnormality of the vertebral column, Hydrocephalus, Pectu... |
ORPHA:77301 |
| Parkinsonian-Pyramidal Syndrome |
|
Lewy bodies, Substantia nigra gliosis |
ORPHA:171695 |
| Fibrous Dysplasia Of Bone |
|
Abnormal femur morphology, Pathologic fracture, Osteolysis, Rickets, Abnormal clavicle morphology... |
ORPHA:249 |
| X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Dysplastic corpus callosum, Dilation of Virchow-Robin spaces, Colpocephaly, Agenesis of corpus ca... |
OMIM:619955 |
| Acromesomelic Dysplasia 4 |
|
Beaking of vertebral bodies, Enlargement of the costochondral junction, Prominent sternum, Umbili... |
OMIM:619636 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Elevated circulating growth hormone concentration, Decreased serum insulin-like g... |
ORPHA:85327 |
| Czech Dysplasia |
|
Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Flexion contracture, Irregular vert... |
OMIM:609162 |
| Cardiac Valvular Dysplasia 1 |
|
Left atrial enlargement, Hypoplasia of right ventricle, Tricuspid valve prolapse, Muscular ventri... |
OMIM:212093 |
| Nestor-Guillermo Progeria Syndrome |
|
Limited elbow movement, Hypertension, Sinus tachycardia, Joint stiffness, Pathologic fracture, De... |
OMIM:614008 |
| Kabuki Syndrome 1 |
|
Abnormal vertebral morphology, Joint dislocation, Hydrocephalus, Scoliosis, Prominent fingertip p... |
OMIM:147920 |
| Double Outlet Left Ventricle |
|
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... |
ORPHA:3427 |
| Epilepsy, Progressive Myoclonic, 10 |
|
Lafora bodies |
OMIM:616640 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Aplasia of the vagina... |
OMIM:277000 |
| Noonan Syndrome 12 |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:618624 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Hyperlordosis, Femoral bowing, Short long bone, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... |
OMIM:618019 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Scaling skin, Multiple joint dislocation, Small pituitary gland, Hyperlordosis, Internally rotate... |
OMIM:619503 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Microretrognathia, Tetralogy of Fallot, Abnormal rib morphology |
ORPHA:276422 |
| Methimazole Embryofetopathy |
|
Coarctation of aorta, Ventricular septal defect, Abnormal aortic morphology |
ORPHA:1923 |
| Periventricular Nodular Heterotopia |
|
Abnormal bleeding, Aortic regurgitation, Aortic aneurysm, Shoulder dislocation, Patent ductus art... |
ORPHA:98892 |
| Colonic Atresia |
|
Gastroschisis, Omphalocele |
ORPHA:1198 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Clubbing, Tibial bowing, Short long bone, Death in in... |
OMIM:601559 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Short distal phalanx of toe, Short distal phalanx of finger, Butterfly vertebrae, Cervical spinal... |
ORPHA:79345 |
| Anauxetic Dysplasia 1 |
|
Barrel-shaped chest, Thoracic kyphosis, Elbow flexion contracture, Hip contracture, Atlantoaxial ... |
OMIM:607095 |
| Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Bell-shaped thorax, Narrow chest, Encephalocele, Short ribs, Omphalocele, Horizontal ribs |
OMIM:616300 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Atrophy/Degeneration affecting the brainstem, Neurodegeneration, Cerebellar atrophy |
OMIM:612319 |
| Eisenmenger Syndrome |
|
Clubbing, Ascites, Left-to-right shunt, Hypoxemia, Heart murmur, Right-to-left shunt, Elevated ju... |
ORPHA:97214 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Kyphoscoliosis, Anterior rib cupping, Platyspondyly, Lumbar hyperlordosis |
OMIM:184253 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Patent ductus arteriosus, Inguinal hernia, Polymicrogyria, Pulmo... |
OMIM:618454 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Abnormal bone ossification, Thin metacarpal cortices, Lumbar hemivertebrae, Thin meta... |
ORPHA:2463 |
| Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Fetal intraventricular hemorrhage, Spasticity, Sacral dimple, Limb hypertonia |
OMIM:618480 |
| Idiopathic Pulmonary Fibrosis |
|
Pulmonary insufficiency, Orthodeoxia, Clubbing of fingers, Acrocyanosis |
ORPHA:2032 |
| Isovaleric Acidemia |
|
Cerebellar hemorrhage |
OMIM:243500 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Hyperextensible skin, Joint dislocation, Osteoarthritis, Joint hypermobility, Soft skin, Striae d... |
OMIM:130020 |
| Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Dementia |
OMIM:272800 |
| Meacham Syndrome |
|
Situs inversus totalis, Transposition of the great arteries, Ventricular septal defect, Anomalous... |
ORPHA:3097 |
| Gapo Syndrome |
|
Abnormal clavicle morphology, Abnormal metaphysis morphology, Abnormal cerebral vascular morpholo... |
ORPHA:2067 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormality of neuronal migration |
ORPHA:2204 |
| Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
| Smith-Mccort Dysplasia 2 |
|
Barrel-shaped chest, Pectus carinatum, Hyperlordosis, Hypoplasia of the odontoid process, Platysp... |
OMIM:615222 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Menorrhagia, Joint hemorrhage, Epistaxis, Ecchymosis, Intracranial h... |
ORPHA:324636 |
| Loeys-Dietz Syndrome 3 |
|
Spondylolisthesis, Arterial tortuosity, Abnormal sternum morphology, Pectus carinatum, Tortuous c... |
OMIM:613795 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... |
OMIM:613091 |
| Down Syndrome |
|
Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen ovale, Ebstein anomaly of... |
OMIM:190685 |
| Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis |
OMIM:209010 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Babinski sign, Spasticity, Clonus, Spastic paraplegia, Abnormal spinal cord morphology, Progressi... |
ORPHA:139578 |
| Meacham Syndrome |
|
Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmonary venous conne... |
OMIM:608978 |
| Occipital Horn Syndrome |
|
Pectus carinatum, Large iliac wing, Pectus excavatum, Kyphosis, Absent tibia, Aplasia/hypoplasia ... |
ORPHA:198 |
| Alkaptonuria |
|
Limitation of knee mobility, Intervertebral disk degeneration, Aortic aneurysm, Arthritis, Arthro... |
OMIM:203500 |
| Spondylo-Ocular Syndrome |
|
Platyspondyly, Short neck, Thoracic kyphosis, Abnormal intervertebral disk morphology |
ORPHA:85194 |
| Microcephaly-Micromelia Syndrome |
|
Aqueductal stenosis, Narrow chest, Oligodactyly, Missing ribs, Micromelia, Humeroradial synostosi... |
OMIM:251230 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Rickets, Osteopenia, Excessive wrinkled skin, Hyperextensible skin, Joint dislocation, Scoliosis,... |
ORPHA:1901 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Short stature, Ventral hernia, Camptodactyly, Omphalocele |
OMIM:618529 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Death in childhood, Hyperextensible skin, Sandal gap, Death in infancy, Failure to th... |
OMIM:617475 |
| Hsd10 Disease, Infantile Type |
|
Dystonia, Cyanosis, Hypertrophic cardiomyopathy, Choreoathetosis |
ORPHA:391428 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Craniofacial hyperostosis, Pectus c... |
ORPHA:3068 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intrauterine growth retardation, Enamel hypoplasia, Hematochezia, Omphalocele |
OMIM:243150 |
| Marfan Syndrome |
|
Limited elbow movement, Reduced bone mineral density, Spondylolisthesis, Pectus carinatum, Cachex... |
ORPHA:558 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Excessive wrinkled skin, Hyperextensible skin, Atherosclerosis, Vasc... |
ORPHA:758 |
| Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology |
ORPHA:83473 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Abnormal aortic morphology, Omp... |
ORPHA:2059 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Severe platyspondyly |
OMIM:620639 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... |
ORPHA:99125 |
| Weiss-Kruszka Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Prominent metopic ridge, Dextrotrans... |
OMIM:618619 |
| Parkinson Disease 1, Autosomal Dominant |
|
Lewy bodies |
OMIM:168601 |
| Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
| Platyspondylic Dysplasia, Torrance Type |
|
Platyspondyly, Narrow chest, Hypoplastic scapulae, Short thorax |
ORPHA:85166 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
| Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Adducted thumb, Choroid plexus cyst, Lateral ventricle dilatation |
ORPHA:293725 |
| Necrotizing Enterocolitis |
|
Bradycardia, Hypotension, Ascites, Edema, Cyanosis, Shock |
ORPHA:391673 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
| Arachnoid Cyst |
|
Sciatica, Paraparesis, Spinal arachnoid cyst, Back pain, Hemiparesis, Subarachnoid hemorrhage, Ab... |
ORPHA:2356 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Platyspondyly, Scoliosis |
OMIM:126550 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Rickets, Enlargement of the costochondral junction, Fibular bowing, Enlargement of the wrists, Bo... |
OMIM:264700 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Ubiquitin-positive cerebral inclusion bodies |
ORPHA:52430 |
| Xylt1-Cdg |
|
Joint dislocation, Flared metaphysis, Short clavicles, Short long bone, Broad thumb, Accelerated ... |
ORPHA:370930 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Tetralogy of F... |
OMIM:617478 |
| Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Prolonged prothrombin time, Abnormal bleeding, Cutis laxa, Epistaxis, Atherosclerosis |
OMIM:610842 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Dislocated radial head, Pectus carinatum, Accelerated skeletal maturation, Arachnodactyly, Joint ... |
OMIM:130070 |
| Three M Syndrome 2 |
|
Slender long bone, Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Sh... |
OMIM:612921 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Spinal rigidity, Barrel-shaped chest, Cervical instability, Scoliosis, Abnormally ossified verteb... |
ORPHA:94068 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia |
ORPHA:86816 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
| Neonatal Adrenoleukodystrophy |
|
Short stature, Wide anterior fontanel, Abnormality of neuronal migration |
ORPHA:44 |
| Lethal Congenital Contracture Syndrome 1 |
|
Widening of cervical spinal canal, Micrognathia, Neonatal death, Pulmonary hypoplasia, Paucity of... |
OMIM:253310 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Platyspondyly, Scoliosis, Irregular vertebral endplates, Lumbar hyperlordosis |
OMIM:156500 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Redundant neck skin, Proximal placement of thumb, Narrow chest, Tracheomalacia, Patent ductus art... |
OMIM:217980 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
| Joubert Syndrome 30 |
|
Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:617622 |
| Achondrogenesis, Type Ii |
|
Short tubular bones of the hand, Stillbirth, Barrel-shaped chest, Hypoplastic iliac wing, Short r... |
OMIM:200610 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Osteopenia, Skin ulcer, Atelectasis, Vascular dilatation, Skin vesicle, Scoliosis, Eosinophilia, ... |
ORPHA:2314 |
| Mucopolysaccharidosis Type 3 |
|
Reduced bone mineral density, Abnormal form of the vertebral bodies, Joint stiffness, Umbilical h... |
ORPHA:581 |
| Mucopolysaccharidosis Type 7 |
|
Anterior beaking of lumbar vertebrae, Inguinal hernia, Scoliosis, Enlarged thorax, Anterior beaki... |
ORPHA:584 |
| Solitary Bone Cyst |
|
Back pain, Abnormal spinal cord morphology, Abnormal form of the vertebral bodies |
ORPHA:83468 |
| Stickler Syndrome, Type I |
|
Beaking of vertebral bodies, Spondylolisthesis, Scoliosis, Pectus excavatum, Kyphosis, Morbus Sch... |
OMIM:108300 |
| Noonan Syndrome 8 |
|
Large for gestational age, Hyperextensible skin, Abnormal sternum morphology, Pleural effusion, H... |
OMIM:615355 |
| Trisomy 13 |
|
Abnormal lung lobation, Narrow chest, Scoliosis, Postaxial hand polydactyly, Ectrodactyly, Abnorm... |
ORPHA:3378 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:618974 |
| Duane Retraction Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Spina bifida occulta, Abnormal form of the vertebr... |
ORPHA:233 |
| Ollier Disease |
|
Platyspondyly |
ORPHA:296 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, Left-to-right shunt, Broad thumb, Syndactyly, Lateral ventricle ... |
OMIM:619534 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Cerebral hemorrhage |
OMIM:301081 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Cardiomegaly, Atrial septal defect, Ventricular s... |
OMIM:618652 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced bone mineral density, Cachexia, Pectus excavatum, Joint stiffness, Micrognathia, Flexion ... |
ORPHA:1979 |
| Dysosteosclerosis |
|
Platyspondyly, Abnormal dental enamel morphology, Hypoplastic vertebral bodies, Irregular vertebr... |
ORPHA:1782 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Stroke |
ORPHA:49827 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cerebral atrophy, Bell-shaped thorax, Pulmonary arterial hypertension, Delayed skeletal maturatio... |
OMIM:614857 |
| Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Scaling skin, Cutis laxa, Dry skin |
ORPHA:2269 |
| Stickler Syndrome, Type Iv |
|
Platyspondyly, Scoliosis, Intervertebral space narrowing |
OMIM:614134 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Premature coronary artery atherosclerosis |
ORPHA:140905 |
| Carpenter Syndrome 2 |
|
Pectus carinatum, Pectus excavatum, Broad thumb, Cutis laxa, Umbilical hernia, Craniosynostosis, ... |
OMIM:614976 |
| Pseudoxanthoma Elasticum |
|
Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe... |
OMIM:264800 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Talipes equinovarus |
ORPHA:401815 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Kyphoscoliosis, Gastrointestinal hemorrhage, Arachnodactyly, Joint hypermobility, Progressive con... |
OMIM:225400 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia, Omphalocele |
ORPHA:95706 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin clavicles, Calvarial osteosclerosis, Thin ribs, Delayed cranial suture closure, Decreased sk... |
ORPHA:93324 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Genu valgum, Cubitus valgus, Flared metaphysis, Wide anterior fontanel, Scoliosis, Wo... |
OMIM:269300 |
| Dextrocardia |
|
Abnormal lung lobation, Hydrocephalus, Abnormal rib morphology, Congenital hip dislocation, Conge... |
ORPHA:1666 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri... |
OMIM:619910 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Scoliosis, Kyphosis, Camptodactyly, Omphalocele, Short neck |
OMIM:616894 |
| Schimke Immuno-Osseous Dysplasia |
|
Congestive heart failure, Ischemic stroke, Stroke, Hypertension, Arteriosclerosis of small cerebr... |
ORPHA:1830 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Popliteal pterygium, Patellar aplasia, Omphalocele |
ORPHA:3329 |
| Pituitary Apoplexy |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... |
ORPHA:95613 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave |
ORPHA:231625 |
| Andersen-Tawil Syndrome |
|
Torsade de pointes, Periodic hyperkalemic paralysis, Prolonged QT interval, Polymorphic ventricul... |
ORPHA:37553 |
| Tempi Syndrome |
|
Intracranial hemorrhage, Telangiectasia |
ORPHA:284227 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Situs inversus totalis, Stroke, Cardiomyopathy, Atrial septal defect, Ventricular septal defect |
OMIM:249270 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Neurodegeneration |
OMIM:615643 |
| Laubry-Pezzi Syndrome |
|
Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa... |
ORPHA:99094 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Reduced bone mineral density, Cubitus valgus, Hyperextensible skin, Spina bifida occulta, Slender... |
ORPHA:1185 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Platyspondyly |
ORPHA:319195 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis |
OMIM:263000 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Werner Syndrome |
|
Rocker bottom foot, Congestive heart failure, Myocardial infarction, Chondrocalcinosis, Skin ulce... |
ORPHA:902 |
| Cardiofaciocutaneous Syndrome 4 |
|
Decreased response to growth hormone stimulation test, Hyperextensible skin, Scoliosis, Pectus ex... |
OMIM:615280 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, Gray matter heteroto... |
OMIM:614643 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Omphalocele, Colpocephaly, H... |
OMIM:618820 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Increased vertebral height, ... |
OMIM:620662 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Tracheomalacia, Abnormal finger morphology, Synostosis of carpal bones, Joint stiffn... |
ORPHA:896 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Redundant neck skin, Absent sternal ossification, Abnormal finger morphology,... |
ORPHA:3472 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Hydrocephalus, Omphalocele |
ORPHA:2736 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Narrow chest, Scoliosis, Coronal cleft vertebrae, ... |
ORPHA:1190 |
| Idiopathic Hypereosinophilic Syndrome |
|
Ankle swelling, Congestive heart failure, Arthritis, Supraventricular arrhythmia, Clubbing, Myelo... |
ORPHA:3260 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Rocker bottom foot, Redundant neck skin, Death in childhood, Cubitus valgus, Bell-shaped thorax, ... |
OMIM:214100 |
| Desmosterolosis |
|
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Growth delay, Abnormality of neuronal ... |
ORPHA:35107 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short ribs, Short long bone, Pe... |
OMIM:271665 |
| Alagille Syndrome 1 |
|
Butterfly vertebral arch, Stroke, Hemivertebrae, Renal artery stenosis, Abnormal rib morphology, ... |
OMIM:118450 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hyperextensible skin, Joint subluxation, Hyperextensibility of the finger joints, Scoliosis, Hype... |
OMIM:617821 |
| Dpagt1-Cdg |
|
Global brain atrophy, Prolonged QT interval, Scoliosis, Camptodactyly, Osteoporosis, Cerebral cor... |
ORPHA:86309 |
| Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Aortic valve stenosis |
ORPHA:3449 |
| Congenital Tracheomalacia |
|
Pneumothorax, Emphysema, Patent ductus arteriosus, Tracheomalacia, Tracheobronchomalacia, Right a... |
ORPHA:95430 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:79085 |
| Bronchopulmonary Dysplasia |
|
Emphysema, Atelectasis, Tracheobronchomalacia, Pulmonary sequestration, Abnormal lung morphology,... |
ORPHA:70589 |
| Otopalatodigital Syndrome, Type Ii |
|
Kyphoscoliosis, Spondylolysis, Narrow chest, Wide anterior fontanel, Short ribs, Pectus excavatum... |
OMIM:304120 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Stroke, Arteriosclerosis of small cerebral arteries, Transient ischemic attack, Lacunar stroke, C... |
OMIM:600142 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Slender long bone, Thin ribs, Decreased body weight, Decreased calvarial ossification, Micrognath... |
OMIM:618265 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Conotruncal defect |
OMIM:243440 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Osteogenesis Imperfecta, Type Vii |
|
Crumpled long bones, Pectus excavatum, Death in infancy, Multiple prenatal fractures, Rhizomelia,... |
OMIM:610682 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Patent foramen ovale, Abnormal vena cava morphology, Mitral stenosis, Tetralogy of Fallot, Patent... |
ORPHA:163956 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cubitus valgus, Aortic regurgitation, Epiphyseal stippling, Cerebellar vermis atrophy, Wide anter... |
OMIM:614866 |
| Fibromuscular Dysplasia, Multifocal |
|
Pulmonary artery aneurysm, Shoulder subluxation, Hyperextensible skin, Dermal translucency, Arter... |
OMIM:619329 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2476 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs, Intestinal lymphangiectasia, Edema, Pedal edema |
OMIM:152800 |
| Opsismodysplasia |
|
Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Hypoplastic vertebra... |
OMIM:258480 |
| Hallermann-Streiff Syndrome |
|
Decreased number of sternal ossification centers, Tracheomalacia, Slender long bone, Scoliosis, H... |
OMIM:234100 |
| ERI1-related disease |
|
Increased vertebral height, Inguinal hernia, Narrow chest, Pectus carinatum, Scoliosis, Pectus ex... |
OMIM:608739 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Cardiomyopathy, Gr... |
ORPHA:370959 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Dilated fourth ventricle, Failure to thrive, Tetralogy of Fallot, Syndactyly, Latera... |
OMIM:619869 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... |
OMIM:619662 |
| Mucolipidosis Iii Alpha/Beta |
|
Spondylolisthesis, Inguinal hernia, Scoliosis, Short ribs, Kyphosis, Broad ribs |
OMIM:252600 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Rocker bottom foot, Patent ductus arteriosus, Hydrocephalus, Hyperextensibility of the finger joi... |
ORPHA:163979 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Scoliosis, Kyphosis, Micrognathia, Colpocephaly, Hip dysplasia, Vent... |
ORPHA:261250 |
| Myoclonic Epilepsy Of Lafora 1 |
|
Lafora bodies |
OMIM:254780 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Wormian bones |
ORPHA:2787 |
| Hughes-Stovin Syndrome |
|
Vasculitis, Pulmonary artery aneurysm, Arterial stenosis |
ORPHA:228116 |
| Holzgreve Syndrome |
|
Abnormal metacarpal morphology, Abnormally ossified vertebrae, Abnormal rib morphology, Joint sti... |
ORPHA:2167 |
| Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Kyphoscoliosis, Pneumothorax, Aortic regurgitation, Right bundle branch block, Hip dysplasia, Dec... |
OMIM:617402 |
| Hydrolethalus Syndrome 1 |
|
Stillbirth, Abnormal cortical gyration, Anencephaly, Gray matter heterotopia, Omphalocele, Agenes... |
OMIM:236680 |
| 3C Syndrome |
|
Postnatal growth retardation, Abnormality of the fontanelles or cranial sutures, Inguinal hernia,... |
ORPHA:7 |
| Holoprosencephaly |
|
Congenital diaphragmatic hernia, Encephalocele, Hydrocephalus, Abnormal aortic morphology, Omphal... |
ORPHA:2162 |
| Meckel Syndrome 14 |
|
Postaxial hand polydactyly, Bowing of the long bones, Tricuspid regurgitation, Increased nuchal t... |
OMIM:619879 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Isosexual precocious puberty, Premature puba... |
ORPHA:90795 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Coronary artery atherosclerosis |
ORPHA:79084 |
| Gm2 Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Cognitive impairment |
ORPHA:309246 |
| Cat-Eye Syndrome |
|
Abnormal rib morphology, Hip dysplasia |
ORPHA:195 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Atelectasis, ... |
ORPHA:254361 |
| 6Q Terminal Deletion Syndrome |
|
Scoliosis, Prominent metopic ridge, Failure to thrive, Aplasia/Hypoplasia of the ribs, Micrognath... |
ORPHA:75857 |
| Noonan Syndrome 9 |
|
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect |
OMIM:616559 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Spontaneous hematomas, Purpura, Skin ulcer, Hyperostosis, Arthritis, Petechiae, Abno... |
ORPHA:906 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Pulmonary pneumatocele, Failure to thrive, Recurrent sinusitis, Recurrent pneumonia, Recurrent si... |
OMIM:243700 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Abnormal lung lobation, Finger clinodactyly, Dandy-Walker malformation, Scoli... |
ORPHA:99776 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis, Short finger, Tapered finger, Heart murmur |
ORPHA:1867 |
| Antley-Bixler Syndrome |
|
Narrow chest, Delayed cranial suture closure, Femoral bowing, Abnormal rib morphology, Joint stif... |
ORPHA:83 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormal rib morphology |
ORPHA:1506 |
| Fetal Akinesia Deformation Sequence 1 |
|
Rocker bottom foot, Wrist flexion contracture, Thoracic hypoplasia, Small placenta, Hydrocephalus... |
OMIM:208150 |
| Diabetic Embryopathy |
|
Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality... |
ORPHA:1926 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Pate... |
ORPHA:284169 |
| Tetrasomy 18P |
|
Syncope, Abnormality of neuronal migration |
ORPHA:3307 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Lewy bodies, Eye of the tiger anomaly of globus pallidus |
OMIM:614298 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Redundant neck skin, Radial deviation of finger, Sandal gap, Pectus carinatum, Aortic valve steno... |
OMIM:618164 |
| Dravet Syndrome |
|
Action tremor, Cyanotic episode, Tibial torsion |
ORPHA:33069 |
| Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
| Lysinuric Protein Intolerance |
|
Hyperextensible skin, Intraalveolar phospholipid accumulation, Osteoporosis, Cutis laxa, Delayed ... |
OMIM:222700 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal metaphysis morphology, Osteopetrosis, Reduced bone mineral density, Narrow chest, Recurr... |
ORPHA:667 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Hypertrophic cardiom... |
ORPHA:99901 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary adenoma, Hyperhidrosi... |
OMIM:300942 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormal rib morphology, Abnormally ossified vertebrae, Micromelia, Dea... |
ORPHA:1318 |
| Otospondylomegaepiphyseal Dysplasia |
|
Abnormal vertebral morphology, Abnormally ossified vertebrae, Coronal cleft vertebrae, Platyspond... |
ORPHA:1427 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... |
OMIM:278000 |
| Microphthalmia, Syndromic 12 |
|
Hypoplastic left atrium, Ventricular septal defect |
OMIM:615524 |
| Frank-Ter Haar Syndrome |
|
Kyphoscoliosis, Redundant neck skin, Broad clavicles, Short long bone, Pectus excavatum, Kyphosis... |
OMIM:249420 |
| 22Q11.2 Duplication Syndrome |
|
Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se... |
ORPHA:1727 |
| Gm1-Gangliosidosis, Type Ii |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hypoplastic vertebral bodies, Ataxia, Pate... |
OMIM:230600 |
| Hereditary Late-Onset Parkinson Disease |
|
Lewy bodies, Cerebral cortical atrophy |
ORPHA:411602 |
| Lowry-Maclean Syndrome |
|
Congenital diaphragmatic hernia, Widely patent coronal suture, Inguinal hernia, Hydrocephalus, Gr... |
ORPHA:2409 |
| Periventricular Nodular Heterotopia 7 |
|
Polymicrogyria, Gray matter heterotopia, Contracture of the proximal interphalangeal joint of the... |
OMIM:617201 |
| Edinburgh Malformation Syndrome |
|
Hydrocephalus, Abnormality of neuronal migration |
ORPHA:1895 |
| Stormorken Syndrome |
|
Abnormal bleeding, Stroke-like episode, Epistaxis, Subarachnoid hemorrhage, Bruising susceptibility |
OMIM:185070 |
| Familial Osteodysplasia, Anderson Type |
|
Aplasia/hypoplasia of the femur, Clinodactyly of the 5th finger, Abnormal cortical bone morpholog... |
ORPHA:2769 |
| Macular Degeneration, Age-Related, 3 |
|
Joint hypermobility, Hyperextensible skin |
OMIM:608895 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
| Timothy Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, Ventricular se... |
OMIM:601005 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short umbilical cord, Cerebellar atrophy, Short humerus, Lateral ventricle dilatation, Short femu... |
OMIM:618367 |
| Absence Of The Pulmonary Artery |
|
Congestive heart failure, Pulmonary edema, Atrial flutter, Reduced left ventricular ejection frac... |
ORPHA:980 |
| Idiopathic Congenital Hypothyroidism |
|
Umbilical hernia, Delayed cranial suture closure, Large posterior fontanelle, Bradycardia |
ORPHA:95717 |
| Alg9-Cdg |
|
Rhizomelia, Wide anterior fontanel, Delayed cranial suture closure, Tricuspid regurgitation, Omph... |
ORPHA:79328 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly, Simplified gyr... |
OMIM:615219 |
| Scalp-Ear-Nipple Syndrome |
|
Congestive heart failure, Clinodactyly of the 5th finger, Finger syndactyly, 2-3 toe syndactyly, ... |
OMIM:181270 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Coarctation of aorta, Ventricular septal defect |
OMIM:620210 |
| Holoprosencephaly 7 |
|
Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Omphalocele, Lobar holopros... |
OMIM:610828 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Abnormal response to glucagon stimulation test, Focal pancr... |
ORPHA:79644 |
| X-Linked Creatine Transporter Deficiency |
|
Joint hypermobility, Cachexia, Redundant skin |
ORPHA:52503 |
| Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo... |
ORPHA:210122 |
| Spondyloperipheral Dysplasia |
|
Barrel-shaped chest, Pectus carinatum, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endp... |
OMIM:271700 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Genu valgum, Patent ductus arteriosus, Hydrocephalus, Branchial anomaly,... |
OMIM:164210 |
| Witteveen-Kolk Syndrome |
|
Radial deviation of finger, Proximal placement of thumb, Delayed skeletal maturation, Arachnodact... |
OMIM:613406 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Wormian bones, Stillbirth, Disproportionate short-limb short stature |
OMIM:259410 |
| Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion, Pectus excavatum, Cutaneous finger syndactyly, Shortening of all... |
OMIM:211380 |
| Congenital Tricuspid Valve Dysplasia |
|
Tricuspid regurgitation, Systolic heart murmur, Hypoxemia, Pericardial effusion, Cyanosis |
ORPHA:555874 |
| Williams-Beuren Syndrome |
|
Kyphoscoliosis, Hypertension, Pectus excavatum, Cutis laxa, Pulmonic stenosis, Umbilical hernia, ... |
OMIM:194050 |
| Eiken Syndrome |
|
Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a... |
OMIM:600002 |
| Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Beaking of vertebral bodies, Coronal cleft vertebrae, Flexion contracture, Platyspondyly, Lumbar ... |
OMIM:215150 |
| Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
| Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anterior scalloping of vertebral bodies, Pectus excavatum, Flexion contracture, Thoracic hypoplas... |
OMIM:611717 |
| Fryns Syndrome |
|
Thin ribs, Aplasia of the left hemidiaphragm, Camptodactyly, Omphalocele, Thoracic hypoplasia, Sh... |
OMIM:229850 |
| X-Linked Ehlers-Danlos Syndrome |
|
Joint hypermobility, Bruising susceptibility, Hyperextensible skin, Umbilical hernia |
ORPHA:75497 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Purpura, Vasculitis, Urticaria, Acrocyanosis, Erythema |
ORPHA:343 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Pachygyria |
ORPHA:370980 |
| Sepsis In Premature Infants |
|
Purpura, Jaundice, Bradycardia, Petechiae, Hypotension, Tachycardia, Cyanosis, Edema |
ORPHA:90051 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Age... |
ORPHA:899 |
| Zaki Syndrome |
|
Broad distal phalanx of finger, Sacral dimple, Hyperextensible skin, Scoliosis, Ectrodactyly, Hyp... |
OMIM:619648 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Slender long bone, Thin ribs, Decreased... |
OMIM:244460 |
| Schimke Immunoosseous Dysplasia |
|
Arteriosclerosis, Stroke, Thoracic kyphosis, Hypertension, Cerebral ischemia, Transient ischemic ... |
OMIM:242900 |
| Saul-Wilson Syndrome |
|
Wide anterior fontanel, Pectus carinatum, Pectus excavatum, Hypoplasia of the odontoid process, I... |
OMIM:618150 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hematemesis, Melena, Petechiae, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, B... |
ORPHA:340 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Clubbing, Hypoxemia, Cyanosis |
OMIM:610910 |
| X-Linked Hypophosphatemia |
|
Reduced bone mineral density, Flared iliac wing, Abnormal epiphysis morphology, Craniosynostosis,... |
ORPHA:89936 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Scoliosis, Bilateral superior vena cava with no bridging vein, Tricuspid regurgita... |
OMIM:618460 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Scoliosis, Pectus excavatum, Kyphosis, Prominent metopic ridge, Abnormal rib m... |
ORPHA:2215 |
| Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin, Hyperextensible skin, Spina bifida occulta, Vascular dilatation, Pectus ... |
ORPHA:500 |
| Epidermal Nevus Syndrome |
|
Spinal cord tumor, Babinski sign, Hypertonia, Aortic aneurysm, Atrophy of the spinal cord, Thorac... |
ORPHA:35125 |
| Asparagine Synthetase Deficiency |
|
Global brain atrophy, Dilated third ventricle, Dilated fourth ventricle, Failure to thrive, Micro... |
OMIM:615574 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Redundant neck skin, Spina bifida occulta, Scoliosis, Camptodactyly, Agenesis of corpus callosum,... |
OMIM:617360 |
| Cole-Carpenter Syndrome 1 |
|
Hydrocephalus, Communicating hydrocephalus, Coronal craniosynostosis, Short stature, Dentinogenes... |
OMIM:112240 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Reduced bone mineral density, Hyperextensible skin, Recurrent joint dislocation, Scoliosis, Joint... |
OMIM:619115 |
| 8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Scoliosis, Metaphyseal spurs, Short ... |
ORPHA:85167 |
| Infantile Liver Failure Syndrome 3 |
|
Beaking of vertebral bodies, Hypoplastic vertebral bodies, Platyspondyly |
OMIM:618641 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Platyspondyly, Scoliosis, Elbow flexion contracture, Kyphosis, Abnormal curvature... |
ORPHA:93360 |
| Familial Cerebral Cavernous Malformation |
|
Scoliosis, Cerebral hemorrhage, Venous malformation, Spinal cord lesion |
ORPHA:221061 |
| Trisomy 20P |
|
Inguinal hernia, Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect,... |
ORPHA:261318 |
| Gm1 Gangliosidosis Type 1 |
|
Beaking of vertebral bodies T12-L3, Spatulate ribs, Pectus carinatum, Hypoplastic vertebral bodie... |
ORPHA:79255 |
| Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Atrial septal defect |
ORPHA:1667 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Femoral bowing, Tibial bowing, Cupped ribs, Short metacarpal, Short... |
OMIM:608940 |
| Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Cubitus valgus, Gray matter heterotopia, Camptodactyly, Knee flexion contracture |
OMIM:619694 |
| Multiple Endocrine Neoplasia, Type I |
|
Glucagonoma, Adenoma sebaceum, Adrenocortical adenoma, Pancreatic islet cell adenoma, Pituitary p... |
OMIM:131100 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Supraventricular arrhythmia, Kyp... |
ORPHA:98863 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Abnormality of the wrist, Inguinal hernia, Abnormality of neuron... |
ORPHA:2063 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Prominent superficial veins, Coronary artery atherosclerosis |
OMIM:608600 |
| Congenital Myopathy 22B, Severe Fetal |
|
Spinal rigidity, Tapered toe, Slender long bone, Shoulder flexion contracture, Scoliosis, Elbow f... |
OMIM:620369 |
| Gm1 Gangliosidosis |
|
Congestive heart failure, Abnormal form of the vertebral bodies, Abnormality of extrapyramidal mo... |
ORPHA:354 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:616277 |
| Premature Aging Syndrome, Penttinen Type |
|
Tibial bowing, Delayed skeletal maturation, Flexion contracture of finger, Cervical ribs, Short d... |
OMIM:601812 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy |
OMIM:300894 |
| Idiopathic Bronchiectasis |
|
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Cl... |
ORPHA:60033 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Short stature, Camptodactyly of finger, Wormian bones, Patent ductus arteriosus |
ORPHA:2863 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Periventricular heterotopia, Simplified gyral pattern |
OMIM:618273 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:613870 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Ethylene Glycol Poisoning |
|
Congestive heart failure, Pulmonary edema, Prolonged QT interval, Atrial fibrillation, Hypertensi... |
ORPHA:31826 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
| Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Midclavicular aplasia, Midclavicular hypoplasia, Inguinal hernia... |
OMIM:305600 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Endometriosis, Aplasia of the uterus, Ectopic ovary, Dyspareunia, Hypoplasia of the vagina, Prima... |
ORPHA:3109 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Scoliosis, Cerebral hemorrhage, Patent ductus arteriosus |
OMIM:616682 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Vascular dilatation, Stroke, Arterial stenosis, Patent ductus arteriosus, Abnormal cerebral vascu... |
ORPHA:2637 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Hyperextensible skin, Joint dislocation, Scoliosis, Gingival bleeding, Arachnodactyly, Umbilical ... |
OMIM:130080 |
| Multifocal Atrial Tachycardia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilatation, Atrial septal defect... |
ORPHA:3282 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Hydrocephalus, Pituitary hypothyroidism, Panh... |
ORPHA:91350 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Abnormal dental enamel morphology, Scoliosis |
ORPHA:2107 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Scoliosis, Omphalocele |
ORPHA:3164 |
| Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Supraventricular arrhythmia, Kyp... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Spinal rigidity, Scoliosis, Hyperlordosis, Vocal cord paralysis, Supraventricular arrhythmia, Kyp... |
ORPHA:98853 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pontocerebellar atrophy, Atelectasis, Recurrent lower respiratory tract infections, Reduced left ... |
ORPHA:258 |
| Alagille Syndrome 2 |
|
Pulmonic stenosis, Atrial septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:610205 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Hydrocephalus, Omphalocele, Holoprosencephaly, Umbilical hernia |
ORPHA:2166 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Pachygyria, Periventricular heterotopia, Agenesis of corpus call... |
ORPHA:255138 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
| Histiocytoid Cardiomyopathy |
|
Congestive heart failure, Pulmonary edema, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial... |
ORPHA:137675 |
| Allergic Bronchopulmonary Aspergillosis |
|
Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Cerebral cortical atr... |
ORPHA:1164 |
| Loeys-Dietz Syndrome 2 |
|
Pulmonary artery aneurysm, Spondylolisthesis, Descending thoracic aorta aneurysm, Arterial tortuo... |
OMIM:610168 |
| Weill-Marchesani Syndrome 2 |
|
Flexion contracture of toe, Short metacarpal, Broad metatarsal, Joint stiffness, Delayed skeletal... |
OMIM:608328 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicusp... |
ORPHA:2847 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Desbuquois Dysplasia 1 |
|
Narrow chest, Scoliosis, Hyperlordosis, Kyphosis, Platyspondyly, Short neck |
OMIM:251450 |
| Sitosterolemia 1 |
|
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... |
OMIM:210250 |
| Giant Cell Arteritis |
|
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... |
ORPHA:397 |
| Hypokalemic Periodic Paralysis |
|
Paralysis, Periodic hypokalemic paresis, Respiratory paralysis |
ORPHA:681 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Rickets, Subperiosteal bone resorption, Enlargement of the costochondral junction, Enlargement of... |
ORPHA:289157 |
| Acrocephalopolydactylous Dysplasia |
|
Short neck, Omphalocele |
OMIM:200995 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Hypoplastic right heart, Ventricular septal defect, Patent ductus arteriosus |
OMIM:618142 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic arch morphology, Hyperte... |
ORPHA:567 |
| Schinzel-Giedion Syndrome |
|
Kyphoscoliosis, Stiff elbow, Tibial bowing, Umbilical hernia, Short distal phalanx of finger, Ove... |
ORPHA:798 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Cardiomyopathy |
OMIM:251000 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Large fontanelles, Abnormal cortical gyration, Encephalocele, Polymicrogyria, Delayed cranial sut... |
ORPHA:2211 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Redundant neck skin, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal death, Pulmonary h... |
OMIM:619003 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cardiomyopathy, Hypotension, Arrhythmia, Ventricular tachycardia, Cyanosis |
ORPHA:159 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Pectus carinatum, Broad clavicles, Femoral ... |
OMIM:276820 |
| Parietal Foramina 1 |
|
Wormian bones, Encephalocele |
OMIM:168500 |
| Mccune-Albright Syndrome |
|
Pancreatitis, Increased serum testosterone level, Abnormal testis morphology, Primary hypercortis... |
ORPHA:562 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebral atrophy, Neuronal loss in central nervous system, Neurodegeneration, Cerebellar atrophy |
OMIM:256600 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
| Isotretinoin-Like Syndrome |
|
Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Abnormality of the pulmon... |
ORPHA:2306 |
| Cardiofaciocutaneous Syndrome 3 |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
| Chromosome 16Q22 Deletion Syndrome |
|
Postnatal growth retardation, Wide anterior fontanel, Prominent metopic ridge, Growth delay, Worm... |
OMIM:614541 |
| Congenital Rubella Syndrome |
|
Abnormality of the pulmonary artery, Atrial septal defect, Ventricular septal defect, Patent duct... |
ORPHA:290 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Severe Congenital Nemaline Myopathy |
|
Thin ribs, Multiple prenatal fractures, Pulmonary hypoplasia, Flexion contracture, Adducted thumb... |
ORPHA:171430 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Bartsocas-Papas Syndrome 1 |
|
Popliteal pterygium, Axillary pterygium, Inguinal hernia, Pterygium, Omphalocele, Inferiorly posi... |
OMIM:263650 |
| Kyphomelic Dysplasia |
|
Femoral bowing, Flat acetabular roof, Tibial bowing, Short metacarpal, Short humerus, Thoracic hy... |
OMIM:211350 |
| Esophageal Atresia |
|
Scoliosis, Abnormal vertebral morphology, Omphalocele |
ORPHA:1199 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis |
ORPHA:98913 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
| B4Galt1-Cdg |
|
Redundant neck skin, Abnormal bleeding, Hydrocephalus, Dandy-Walker malformation, Small for gesta... |
ORPHA:79332 |
| Costello Syndrome |
|
Cerebral atrophy, Limited elbow movement, Redundant neck skin, Pneumothorax, Lymphangiectasis, Ba... |
OMIM:218040 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Kyphoscoliosis, Platyspondyly, Cervical instability, Pectus excavatum, Thoracolumbar kyphosis |
OMIM:617425 |
| C Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Joint dislocation, Dislocated radial head, Redunda... |
ORPHA:1308 |
| Acrorenal-Mandibular Syndrome |
|
Kyphoscoliosis, Split foot, Hip dislocation, Hypoplasia of the ulna, Butterfly vertebrae, Hypopla... |
OMIM:200980 |
| Homozygous Familial Hypercholesterolemia |
|
Calcification of the aorta, Premature arteriosclerosis, Premature coronary artery atherosclerosis... |
ORPHA:391665 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Vascular dilatation, Anencephaly, Hydrocephalus, Omphalocele, Camptodact... |
OMIM:249000 |
| Congenital Gerbode Defect |
|
Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m... |
ORPHA:99095 |
| Ellis-Van Creveld Syndrome |
|
Genu valgum, Narrow chest, Talipes equinovarus, Pectus carinatum, Hypoplastic iliac wing, Short r... |
OMIM:225500 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Large fontanelles, Abnormality of the wrist, Delayed cranial suture closure, Severe short stature... |
ORPHA:2511 |
| Neu-Laxova Syndrome |
|
Rickets, Osteopenia, Pterygium, Dandy-Walker malformation, Scoliosis, Osteoporosis, Spina bifida,... |
ORPHA:2671 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Developmental And Epileptic Encephalopathy 31B |
|
Brain atrophy, Failure to thrive, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620352 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At... |
OMIM:600987 |
| Aicardi-Goutieres Syndrome 1 |
|
Purpura, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Dystonia, Acrocyanos... |
OMIM:225750 |
| Non-Acquired Panhypopituitarism |
|
Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s... |
ORPHA:90695 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Hydrocephalus, Increased c... |
ORPHA:2495 |
| Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
| Agel Amyloidosis |
|
Cardiomyopathy, Dry skin, Cutis laxa, Respiratory tract infection, Orthostatic hypotension due to... |
ORPHA:85448 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Hypertension, Cerebellar atrophy, Death in infancy, Colpocephaly, Ov... |
OMIM:270400 |
| Immunodeficiency 47 |
|
Tricuspid regurgitation, Death in infancy, Cutis laxa, Failure to thrive, Joint hypermobility |
OMIM:300972 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
| Hypomelanosis Of Ito |
|
Gray matter heterotopia |
OMIM:300337 |
| Holoprosencephaly 13, X-Linked |
|
Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal... |
OMIM:301043 |
| Sillence Syndrome |
|
Abnormal vertebral morphology, Intervertebral disk degeneration, Scoliosis, Camptodactyly, Back p... |
ORPHA:3168 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Scoliosis, Kyphosis, Gait ataxia, Abnormal spinal cord morphology, Ataxia |
ORPHA:88628 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Pectus carinatum, Pectus excavatum, Pulmonic stenosis, Delayed skeletal maturation, Arachnodactyl... |
ORPHA:261537 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Congestive heart failure, Purpura, Vasculitis, Hypertension, Transient ischemic atta... |
ORPHA:183 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Short ribs, Hypoplast... |
OMIM:208500 |
| Primary Pulmonary Hypoplasia |
|
Hypoxemia, Cyanosis, Patellar hypoplasia |
ORPHA:2257 |
| Radio-Renal Syndrome |
|
Hypoplasia of the radius, Abnormal form of the vertebral bodies, Chylothorax, Pleural effusion, A... |
ORPHA:3015 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Limited elbow extension, Redundant neck skin, Ventriculomegaly, Hydrocephalus, Hypertension, Agen... |
OMIM:123790 |
| Machado-Joseph Disease Type 3 |
|
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... |
ORPHA:276244 |
| Meier-Gorlin Syndrome 4 |
|
Lateral clavicle hook, Emphysema, Slender long bone, Genu recurvatum, Delayed skeletal maturation... |
OMIM:613804 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Death in infancy, Joint stiffness, Umbilical hernia, Abnormal epiphysis morphology, Joi... |
ORPHA:534 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Barrel-shaped chest, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endpl... |
OMIM:226980 |
| Van Den Ende-Gupta Syndrome |
|
Dislocated radial head, Short ribs, Femoral bowing, Pectus excavatum, Arachnodactyly, Slender met... |
OMIM:600920 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Cerebral atrophy, Hydrocephalus, Stroke, Atrophy of the spinal cord, Pulmonary arterial hypertens... |
ORPHA:79282 |
| Cerebral Palsy, Spastic Quadriplegic, 3 |
|
Gray matter heterotopia |
OMIM:617008 |
| Ppoma |
|
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... |
ORPHA:97278 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hydrocephalus, Polymicrogyria, Cardiomyopathy, Abnormality of neuronal migration, Arrhythmia, Pac... |
ORPHA:157 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Redundant neck skin, Abnormal sternum morphology, Short ribs, Postaxial hand polydactyly, Abnorma... |
ORPHA:2519 |
| Aymé-Gripp Syndrome |
|
Rocker bottom foot, Clinodactyly of the 5th finger, Patent ductus arteriosus, Hydrocephalus, Scol... |
ORPHA:1272 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Lateral clavicle hook, Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Na... |
OMIM:617925 |
| Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
| Shwachman-Diamond Syndrome 1 |
|
Narrow greater sciatic notch, Enlargement of the costochondral junction, Metaphyseal sclerosis, N... |
OMIM:260400 |
| Poems Syndrome |
|
Metaphyseal sclerosis, Clubbing of fingers, Pleural effusion, Ascites, Pulmonary arterial hyperte... |
ORPHA:2905 |
| Skraban-Deardorff Syndrome |
|
Right aortic arch, Ventricular septal defect |
OMIM:617616 |
| Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Scoliosis, Platyspondyly, Abnormality of the vertebral column |
ORPHA:93316 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Total absence of t... |
OMIM:600001 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Kyphoscoliosis, Purpura, Increased intervertebral space, Scoliosis, Spasticity, Raynaud phenomeno... |
OMIM:607944 |
| Desbuquois Dysplasia 2 |
|
Narrow chest, Pectus carinatum, Short clavicles, Pectus excavatum, Platyspondyly, Short neck, Lum... |
OMIM:615777 |
| Transketolase Deficiency |
|
Patent foramen ovale, Abnormal coronary artery course, Abnormal heart morphology, Patent ductus a... |
ORPHA:488618 |
| Rift Valley Fever |
|
Hematemesis, Abnormal bleeding, Melena, Decerebrate rigidity, Gingival bleeding, Retinal hemorrha... |
ORPHA:319251 |
| 8P23.1 Microdeletion Syndrome |
|
Atrioventricular canal defect, Transposition of the great arteries, Abnormal aortic morphology, H... |
ORPHA:251071 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum, Vertebral clefting, Persistent cloaca |
OMIM:615709 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Abnormality of neuronal migration, Hip subluxation |
OMIM:300957 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Hand clenching, Choreoathetosis, Opisthotonus, Cyanosis |
OMIM:619580 |
| Mucopolysaccharidosis, Type Iiid |
|
Elbow flexion contracture, Hip dysplasia, Cerebellar atrophy, Asymmetric septal hypertrophy, Join... |
OMIM:252940 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... |
ORPHA:216694 |
| Osteogenesis Imperfecta, Type Xxii |
|
Short stature, Wormian bones, Dentinogenesis imperfecta, Intrauterine growth retardation |
OMIM:619795 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Cerebral vasculitis |
ORPHA:83601 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Redundant neck skin, Narrow chest, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Death... |
OMIM:235255 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Transposition of the great arteries, Pulmonary artery stenosis, Tetralogy of Fallot, Double outle... |
OMIM:280000 |
| Meier-Gorlin Syndrome 3 |
|
Patellar hypoplasia, Narrow chest, Tracheomalacia, Absent sternal ossification, Aplasia/Hypoplasi... |
OMIM:613803 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration |
OMIM:245200 |
| Loeys-Dietz Syndrome 1 |
|
Pulmonary artery aneurysm, Spondylolisthesis, Descending thoracic aorta aneurysm, Arterial tortuo... |
OMIM:609192 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Keutel Syndrome |
|
Pulmonary artery stenosis, Ventricular septal defect |
ORPHA:85202 |
| Cockayne Syndrome Type 3 |
|
Increased blood pressure, Premature coronary artery atherosclerosis, Aortic root aneurysm, Scolio... |
ORPHA:90324 |
| Van Maldergem Syndrome 1 |
|
Wide anterior fontanel, Gray matter heterotopia, Camptodactyly, Growth delay, Radial head subluxa... |
OMIM:601390 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Neurodegeneration, Diffuse cerebellar atrophy, Axonal degeneration |
ORPHA:478029 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Coronary artery atherosclerosis |
OMIM:618620 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pulmonary insufficiency, Hyperextensible skin, Aortic regurgitation, Scoliosis, Pectus excavatum,... |
ORPHA:555877 |
| Ethylmalonic Encephalopathy |
|
Petechiae, Acrocyanosis |
ORPHA:51188 |
| Crimean-Congo Hemorrhagic Fever |
|
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorr... |
ORPHA:99827 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus |
OMIM:618223 |
| Marfan Syndrome |
|
Kyphoscoliosis, Spondylolisthesis, Pectus carinatum, Pectus excavatum, Arachnodactyly, Equinus ca... |
OMIM:154700 |
| Choreoacanthocytosis |
|
Arthritis, Frontal cortical atrophy, Cerebral cortical atrophy, Lateral ventricle dilatation, Wei... |
ORPHA:2388 |
| Tangier Disease |
|
Atherosclerosis, Coronary artery atherosclerosis, Left ventricular hypertrophy |
OMIM:205400 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... |
OMIM:300106 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Distal shortening of limbs, Spina bifida occulta, Abnormal rib morphology, Delayed sk... |
ORPHA:488434 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
| Orofaciodigital Syndrome Type 14 |
|
Aplasia of the epiglottis, Deviation of the hallux, Dandy-Walker malformation, Postaxial hand pol... |
ORPHA:434179 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Patent foramen ovale, Ve... |
OMIM:619343 |
| Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Wormian bones, Dentinogenesis imperfecta |
ORPHA:166277 |
| Bronchogenic Cyst |
|
Bronchogenic cyst, Atelectasis, Abnormal lumbar spine morphology, Back pain, Abnormal pleura morp... |
ORPHA:2357 |
| Geleophysic Dysplasia 1 |
|
Short long bone, Wrist flexion contracture, Pectus excavatum, Joint stiffness, Delayed skeletal m... |
OMIM:231050 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Pectus carinatum, Pectus excavatum, Hyphema, Delayed skeletal maturation, Arachnodactyly, Pulmoni... |
ORPHA:261552 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebral atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:615157 |
| Recurrent Respiratory Papillomatosis |
|
Atelectasis, Tracheomalacia, Abnormal lung morphology, Failure to thrive, Recurrent pneumonia, Re... |
ORPHA:60032 |
| Mend Syndrome |
|
Polydactyly, Redundant neck skin, Sacral dimple, Hydrocephalus, Dandy-Walker malformation, 2-3 to... |
OMIM:300960 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Calcification of the aorta, Abnormal pulmonary interstitial morphology, Skin ulcer, Hyperextensib... |
ORPHA:2072 |
| Opitz-Kaveggia Syndrome |
|
Inguinal hernia, Hydrocephalus, Wide anterior fontanel, Gray matter heterotopia, Camptodactyly, S... |
OMIM:305450 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| Grfoma |
|
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... |
ORPHA:97261 |
| Sclerosteosis 1 |
|
Broad clavicles, Abnormal pelvic girdle bone morphology, Deviation of finger, Cortically dense lo... |
OMIM:269500 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Mesomelia, Ventricu... |
ORPHA:818 |
| Brittle Cornea Syndrome |
|
Hyperextensible skin, Scoliosis, Abnormal epiphysis morphology, Camptodactyly, Osteoporosis, Pulm... |
ORPHA:90354 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Clubbing, Cyanosis, Pulmonary arterial hypertension |
OMIM:265120 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Aortic aneurysm, Telangiectasia, Stroke, Aortic dissection, E... |
OMIM:175050 |
| Machado-Joseph Disease Type 1 |
|
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... |
ORPHA:276241 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Congestive heart failure, Coronary artery atherosclerosis, Aortic root aneurysm, Hypertension, Ao... |
ORPHA:363618 |
| Encephalopathy, Ethylmalonic |
|
Petechiae, Acrocyanosis |
OMIM:602473 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Hypoplasia of the radius, Abnormal vertebral morphology, Patent urachus,... |
OMIM:192350 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Patent foramen ovale, Coarctation of aorta, Abnormal heart morphology, Persistent left superior v... |
OMIM:618494 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Hypermobility of distal interphalangeal joints, Repeated pneumothoraces, Pectus excavatum, Descen... |
OMIM:130050 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Hyperextensible skin, Joint dislocation, Joint hypermobility, Bruising susceptibility, Dermal tra... |
OMIM:619120 |
| Charge Syndrome |
|
Postnatal growth retardation, Aqueductal stenosis, Delayed puberty, Interrupted aortic arch, Aort... |
ORPHA:138 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Rickets, Osteopenia, Cerebral atrophy, Reduced bone mineral density, Emphysema, Abnormal pulmonar... |
OMIM:613658 |
| Microphthalmia, Syndromic 9 |
|
Right aortic arch with mirror image branching, Hypoplastic left atrium, Truncus arteriosus, Pulmo... |
OMIM:601186 |
| Noonan Syndrome 10 |
|
Cubitus valgus, Hyperextensible skin, Pectus carinatum, Scoliosis, Pleural effusion, Pectus excav... |
OMIM:616564 |
| Laryngotracheoesophageal Cleft |
|
Cyanosis |
ORPHA:2004 |
| Spinocerebellar Ataxia Type 3 |
|
Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Vocal cord paralysis... |
ORPHA:98757 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent foramen ovale, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic valve,... |
ORPHA:500159 |
| Ellis Van Creveld Syndrome |
|
Genu valgum, Cubitus valgus, Emphysema, Narrow chest, Short thorax, Synostosis of carpal bones, A... |
ORPHA:289 |
| Pyknoachondrogenesis |
|
Short iliac bones, Craniofacial hyperostosis, Short thorax, Abnormal iliac wing morphology, Short... |
ORPHA:3003 |
| Exstrophy-Epispadias Complex |
|
Cloacal exstrophy, Inguinal hernia, Hydrocephalus, Spina bifida, Omphalocele, Abnormal joint morp... |
ORPHA:322 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
ORPHA:2328 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... |
OMIM:616726 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
ORPHA:3306 |
| Chromosome 18P Deletion Syndrome |
|
Redundant neck skin, Radial deviation of finger, Clinodactyly of the 5th finger, Barrel-shaped ch... |
OMIM:146390 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
| Vipoma |
|
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... |
ORPHA:97282 |
| Apolipoprotein A-I Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:425 |
| Fraser Syndrome |
|
Encephalocele, Vertebral segmentation defect, Myelomeningocele, Omphalocele, Abnormal rib morphol... |
ORPHA:2052 |
| Choanal Atresia |
|
Polydactyly, Cyanosis |
ORPHA:137914 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Clubbing, Hypoxemia, Cyanosis |
ORPHA:747 |
| Chromosome 5Q12 Deletion Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus |
OMIM:615668 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Congestive heart failure, Emphysema, Hyperextensible skin, Aortic regurgitation, Redundant skin, ... |
OMIM:123700 |
| Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large fontanelles, Inguinal hernia, Otosclerosis, Wide anterior ... |
ORPHA:116 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Joint hypermobility, Bruising susceptibility, Striae distensae |
OMIM:225310 |
| Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
| Vascular Ehlers-Danlos Syndrome |
|
Pulmonary artery aneurysm, Arteriovenous fistulas of celiac and mesenteric vessels, Redundant ski... |
ORPHA:286 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Kyphoscoliosis, Beaking of vertebral bodies, Abnormal sternum morphology, Hyperlordosis, Thoracol... |
ORPHA:457395 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:613398 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Inguinal hernia, Abnormality of the vertebral column, Abnormal den... |
ORPHA:2273 |
| Joubert Syndrome |
|
Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Encephalocele |
ORPHA:475 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:619909 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Large fontanelles, Polymicrogyria, Gray matter heterotopia, Neonatal death, Delayed closure of th... |
OMIM:614887 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia |
OMIM:615960 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... |
ORPHA:97283 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Hydrocephalus, Vascular dilatation, Gray matter heterotopia |
OMIM:219730 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Right axis deviation, Diaphragmatic paralysis, Sinus tachycardia,... |
OMIM:232300 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Patent ductus arteriosus, Scoliosis, Broad metacarpals, Broad metata... |
OMIM:277600 |
| Holoprosencephaly 14 |
|
Double outlet right ventricle, Ventricular septal defect, Aortic valve atresia |
OMIM:619895 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Pectus excavatum, Arachnodactyly, Umbilical hernia, Joint hypermobility, Adducted thumb, Ventricu... |
OMIM:601776 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Scoliosis, Dilatation of the cerebral artery, Platyspondyly, Bruising susceptibility, Arterial ru... |
OMIM:612394 |
| Spinal Cord Injury |
|
Syringomyelia, Vertebral compression fracture, Spasticity, Spinal cord lesion, Weakness due to up... |
ORPHA:90058 |
| Distal Deletion 15Q |
|
Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left heart, Double outlet ... |
ORPHA:1596 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect |
OMIM:301039 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect, A... |
OMIM:600460 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Absent sternal ossification, Flat acetabular roof, Decreased skull ossificat... |
OMIM:216340 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Clubbing, Respiratory tract infection, W... |
ORPHA:79127 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Heart block, Hydrocephalus, Polymicrogyria, Cardiomyopathy, Abnormality of neuronal migration, Ar... |
ORPHA:228308 |
| Gm2-Gangliosidosis, Ab Variant |
|
Dystonia, Exaggerated startle response, Dementia |
OMIM:272750 |
| Potocki-Shaffer Syndrome |
|
Wormian bones |
OMIM:601224 |
| Blomstrand Lethal Chondrodysplasia |
|
Narrow chest, Short thorax, Broad clavicles, Short ribs, Platyspondyly, Aplastic clavicle |
ORPHA:50945 |
| Ciliary Dyskinesia, Primary, 21 |
|
Bronchiectasis, Recurrent pneumonia, Atelectasis |
OMIM:615294 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Kyphosis, Biconca... |
OMIM:259770 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Scoliosis, Osteoporosis, Kyphosis, Micrognathia, Joint contracture, Lack of skin elasticity, Tela... |
OMIM:615381 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Scoliosis, Truncal ataxia, Vocal cord paralysis, Knee clonus, Kyphosis, At... |
OMIM:211530 |
| Amyotrophic Lateral Sclerosis |
|
Babinski sign, Fasciculations, Spasticity, Motor neuron atrophy, Paralysis, Amyotrophic lateral s... |
ORPHA:803 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Umbilical hernia, Omphalocele |
ORPHA:2241 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Neurodegeneration, Cerebellar atrophy |
OMIM:616239 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Popliteal pterygium, Finger syndactyly, Scoliosis, Split hand, Abnormal rib morphology, Joint sti... |
ORPHA:1300 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Hyperextensible skin, Tracheomalacia, Failure to thrive, Umbilical her... |
ORPHA:261652 |
| Japanese Encephalitis |
|
Pill-rolling tremor, Hypertonia, Paralysis, Hyperintensity of MRI T2 signal of the spinal cord, R... |
ORPHA:79139 |
| Vici Syndrome |
|
Short stature, Cardiomyopathy, Gray matter heterotopia, Agenesis of corpus callosum |
ORPHA:1493 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response |
ORPHA:3198 |
| Monosomy 9P |
|
Proximal placement of thumb, Abnormality of the vertebral column, Scoliosis, Limitation of joint ... |
ORPHA:261112 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Wormian bones, Abnormality of the knee, Abnormality of the ankle |
ORPHA:970 |
| Cerebrocostomandibular Syndrome |
|
Clinodactyly of the 5th finger, Bell-shaped thorax, Tracheomalacia, Meningocele, Hydranencephaly,... |
ORPHA:1393 |
| Van Maldergem Syndrome 2 |
|
Hip subluxation, Inguinal hernia, Wide anterior fontanel, Gray matter heterotopia, Growth delay, ... |
OMIM:615546 |
| Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Redundant neck skin, Abnormal sternum morphology, Pectus carinat... |
OMIM:605275 |
| Foodborne Botulism |
|
Paralysis, Diaphragmatic paralysis, Cerebral palsy, Arrhythmia |
ORPHA:228371 |
| Pulmonary Alveolar Microlithiasis |
|
Clubbing of fingers, Stippled calcification in carpal bones, Hypoxemia, Right ventricular failure... |
ORPHA:60025 |
| Acute Transverse Myelitis |
|
Babinski sign, Orthostatic hypotension, Paraplegia, Abnormality of extrapyramidal motor function,... |
ORPHA:139417 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Joint hypermobility, Thin ribs |
ORPHA:456328 |
| Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Wide anterior fontanel, Wormian bones, Craniosynostosis |
OMIM:601853 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Narrow chest, Short thorax, Short ribs, Omphalocele |
ORPHA:93271 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Dilatation of the cerebral artery, Atelectasis, Left ventricular outflow tract obstruction, Vascu... |
ORPHA:365 |
| 16P13.11 Microdeletion Syndrome |
|
Short stature, Camptodactyly of finger, Abnormality of neuronal migration, Holoprosencephaly, Age... |
ORPHA:261236 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Large fontanelles, Elbow dislocation, Severe short stature |
ORPHA:2249 |
| Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis, Hypertension |
ORPHA:757 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Ankle flexion contracture, Craniosynostosis, Polymicrogyria, Prominent metopic ridge, Camptodacty... |
ORPHA:468631 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Scoliosis, Dentinogenesis imperfecta, Kyphosis |
OMIM:166220 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect, Vascular ring |
OMIM:603387 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Patent ductus arteriosus, Gray matter heterotopia, Prominent metopic ridge, Ventricular arrhythmi... |
OMIM:620475 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
| Myhre Syndrome |
|
Platyspondyly, Femoral hernia, Abnormal rib morphology, Inguinal hernia |
ORPHA:2588 |
| Hutchinson-Gilford Progeria Syndrome |
|
Premature coronary artery atherosclerosis, Precocious atherosclerosis |
OMIM:176670 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:2518 |
| Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
| Transaldolase Deficiency |
|
Patent foramen ovale, Coarctation of aorta, Patent ductus arteriosus, Atrial septal defect, Ventr... |
OMIM:606003 |
| Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hyperammonemia, Hypercholesterolemia |
OMIM:620454 |
| Amyloidosis, Finnish Type |
|
Cutis laxa, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability |
OMIM:105120 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Platyspondyly, Thoracolumbar scoliosis, Scoliosis, Short neck |
OMIM:616723 |
| Trisomy X |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:3375 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Scoliosis, Periodic paralysis, P... |
OMIM:170390 |
| Phace Syndrome |
|
Abnormal carotid artery morphology, Aortic root aneurysm, Coarctation of aorta, Tetralogy of Fall... |
ORPHA:42775 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Abnormality of neuronal migration, Abnormal neuron morphology |
ORPHA:163681 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Patent foramen ovale, Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect, Vent... |
ORPHA:329224 |
| Coccidioidomycosis |
|
Abnormal long bone morphology, Abnormal metacarpal morphology, Abnormality of the vertebral colum... |
ORPHA:228123 |
| Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Patent ductus arteriosus |
OMIM:617516 |
| X-Linked Adrenoleukodystrophy |
|
Paralysis, Incoordination, Paraparesis, Hemiparesis, Progressive spastic paraparesis, Clumsiness |
ORPHA:43 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:218350 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Hydrocephalus, Myelomeningocele, Cutaneous finger... |
OMIM:219000 |
| Fanconi Renotubular Syndrome 5 |
|
Genu valgum, Emphysema, Hypophosphatemic rickets, Hypertension, Lung adenocarcinoma, Pulmonary fi... |
OMIM:618913 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Limited elbow extension, Genu valgum, Joint dislocation, Flat acetabular roof, Limited knee exten... |
OMIM:618870 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:619769 |
| Beckwith-Wiedemann Syndrome |
|
Large fontanelles, Diastasis recti, Cardiomyopathy, Prominent metopic ridge, Omphalocele |
OMIM:130650 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Increased vertebral height, Pectus carinatum, Scoliosis, Pectus excavatum, Platyspondyly |
OMIM:620663 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Poliomyelitis |
|
Hyperkinetic movements, Myelitis, Fasciculations, Hypertension, Hypotension, Hypovolemic shock, P... |
ORPHA:2912 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus |
OMIM:617021 |
| Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
| Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Large fontanelles, Gray matter heterotopia, Camptodactyly, Pulmonic s... |
ORPHA:314679 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Ischemic stroke, Corneal neovascularization, Dilation of Virchow-Robin spaces, Retinal hemorrhage... |
OMIM:175780 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect |
OMIM:613730 |
| Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
| Lcat Deficiency |
|
Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Clubbing, Hypoxemia, Cyanosis, Pulmonary arterial hypertension |
OMIM:610913 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Coarctation of aorta, Mitral stenosis, Col... |
OMIM:617260 |
| Lowry-Wood Syndrome |
|
Platyspondyly |
ORPHA:1824 |
| Joubert Syndrome With Oculorenal Defect |
|
Hydrocephalus, Abnormality of neuronal migration, Encephalocele |
ORPHA:2318 |
| Sarcoidosis, Susceptibility To, 2 |
|
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Clubbing, Pleural effusion, ... |
OMIM:612387 |
| Acrofrontofacionasal Dysostosis 2 |
|
Redundant neck skin, Sacral dimple, Wide anterior fontanel, Broad thumb, Hand polydactyly, Broad ... |
OMIM:239710 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short humerus, Long toe, Clinodactyly, Delayed closure of the anterior fontanelle, Genu varum, Hy... |
OMIM:264090 |
| 3P25.3 Microdeletion Syndrome |
|
Coronary artery atherosclerosis, Pulmonic stenosis, Patent ductus arteriosus, Atrial septal defec... |
ORPHA:435638 |
| Hyperoxaluria, Primary, Type I |
|
Dehydration, Intermittent claudication, Cutis marmorata, Raynaud phenomenon, Acrocyanosis, Atriov... |
OMIM:259900 |
| Craniosynostosis 2 |
|
Unicoronal synostosis, Bicoronal synostosis, Metopic synostosis, Wormian bones, Craniosynostosis |
OMIM:604757 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... |
ORPHA:470 |
| Toxin-Mediated Infectious Botulism |
|
Paralysis, Diaphragmatic paralysis, Cerebral palsy |
ORPHA:230800 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Coronary artery fistula, Frontal polymicrogyria, Gray matter heterotopia, Short stature, Neonatal... |
OMIM:620024 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Cyanosis |
OMIM:261680 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Ventricular septal defect, Tetralogy of Fallot, Pulmonary artery atresia |
ORPHA:1908 |
| Meier-Gorlin Syndrome 6 |
|
Decreased response to growth hormone stimulation test, Emphysema, Sandal gap, Tracheobronchomalac... |
OMIM:616835 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Absent frontal sinuses, Recurrent bronchitis, Communicating hydrocephalus... |
OMIM:244400 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:452 |
| Lethal Congenital Contracture Syndrome 2 |
|
Dilated cardiomyopathy, Ventricular septal defect |
OMIM:607598 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Recurrent respiratory infections, Atelectasis |
OMIM:615872 |
| Classical Ehlers-Danlos Syndrome |
|
Dislocated radial head, Arteriovenous fistula, Arterial dissection, Bruising susceptibility, Umbi... |
ORPHA:287 |
| Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:263630 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Osteochondrosis, Large fontanelles, Polymicrogyria, Delayed cranial suture closure, Transient isc... |
ORPHA:2995 |
| Curry-Jones Syndrome |
|
Unicoronal synostosis, Bicoronal synostosis, Polymicrogyria, Lipomyelomeningocele, Occipital meni... |
OMIM:601707 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Atelectasis, Elevated bronchoalveolar lava... |
OMIM:610978 |
| Zollinger-Ellison Syndrome |
|
Glucagonoma, Elevated circulating parathyroid hormone level, Neuroendocrine neoplasm, Adrenocorti... |
ORPHA:913 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Coarctation of aorta, Right aortic arch, Supraumbilical raphe, Bifid sternum |
OMIM:140850 |
| 9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Craniosynostosis, Gray matter heterotopia |
ORPHA:531151 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries |
OMIM:617877 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebral atrophy, Neurodegeneration, Cerebellar atrophy |
OMIM:615491 |
| Glossopharyngeal Neuralgia |
|
Vascular dilatation, Bradycardia, Vocal cord paralysis, Jaw claudication, Syncope, Abnormality of... |
ORPHA:221098 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Polyhydramnios, Cyanosis |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Polyhydramnios, Cyanosis |
ORPHA:590 |
| Marbach-Rustad Progeroid Syndrome |
|
Pulmonary insufficiency, Wormian bones, Right bundle branch block, Short stature, Reduced subcuta... |
OMIM:619322 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Redundant neck skin, Narrow chest, Pancreatic lymphangiectasis, Postaxial hand polydactyly, Micro... |
ORPHA:1655 |
| Ablepharon Macrostomia Syndrome |
|
Growth delay, Camptodactyly of finger, Omphalocele, Umbilical hernia |
ORPHA:920 |
| Cardiac-Urogenital Syndrome |
|
Mesocardia, Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, In... |
OMIM:618280 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Persistent left superior vena cava, Atrioventricular canal defect, Transposition of the great art... |
OMIM:314390 |
| Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Inguinal hernia, Hydrocephalus, Portal hypertension, Abnormality of neur... |
ORPHA:1454 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Intrauterine growth retardation, Subdural hemorrhage |
OMIM:619714 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Hyperextensible skin, Joint subluxation, Joint hypermobility, Bruising susceptibility, Soft skin,... |
OMIM:606408 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect |
OMIM:617450 |
| Diamond-Blackfan Anemia 7 |
|
Ventricular septal defect, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arte... |
OMIM:612562 |
| Familial Thyroid Dyshormonogenesis |
|
Umbilical hernia, Delayed cranial suture closure, Large posterior fontanelle, Bradycardia |
ORPHA:95716 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele |
OMIM:248450 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:613680 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Palpitations, Periodic paralysis |
OMIM:188580 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Generalized lipodystrophy, Loss of truncal subcutaneous adi... |
OMIM:608612 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
| Fragile X Syndrome |
|
Periventricular heterotopia |
OMIM:300624 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Widened distal phalanges, Abnormal subclavian artery morphology, Broad distal phalanx of finger, ... |
ORPHA:353277 |
| Coffin-Siris Syndrome 6 |
|
Short stature, Wormian bones |
OMIM:617808 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Atelectasis, Brain atrophy, Pectus excavatum, Failure to thrive, Pulmonary fi... |
OMIM:618278 |
| Ear-Patella-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Slender long bone, Abnormal epiphysis morphology, Abnormal rib mo... |
ORPHA:2554 |
| Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
| Acrocardiofacial Syndrome |
|
Truncus arteriosus, Coarctation of aorta, Mitral stenosis, Tetralogy of Fallot, Atrial septal def... |
ORPHA:2008 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Periodic paralysis, Tremor |
OMIM:613239 |
| Microphthalmia, Syndromic 2 |
|
Dextrocardia, Hypoplastic aortic arch, Pulmonic stenosis, Aortic valve stenosis, Mitral valve pro... |
OMIM:300166 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Hypoplasia of right ventricle, Transposition of the great arteries, Double outlet left ventricle,... |
ORPHA:2255 |
| Nelson Syndrome |
|
Hypertension, Optic nerve compression, Intracranial hemorrhage |
ORPHA:199244 |
| Glucagonoma |
|
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... |
ORPHA:97280 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Butterfly vertebrae, Inguinal hernia, Scoliosis, Unilateral chest hypoplasia, Omphalocele, Umbili... |
OMIM:308205 |
| Carney Complex, Type 1 |
|
Thyroid carcinoma, Pheochromocytoma, Pituitary adenoma, Elevated circulating growth hormone conce... |
OMIM:160980 |
| Hereditary Acrokeratotic Poikiloderma |
|
Skin ulcer, Abnormal metacarpal morphology, Abnormal hip bone morphology, Finger syndactyly, Ging... |
ORPHA:2907 |
| Lessel-Kreienkamp Syndrome |
|
Pulmonic stenosis, Wide cranial sutures, Patent ductus arteriosus |
OMIM:619149 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intrauterine growth retardation, Omphalocele |
ORPHA:436252 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Cerebral atrophy, Hypertension, Lateral ventricle dilatation |
OMIM:300896 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Hepatic arteriovenous malformation, Arteriovenous malformation, Spon... |
ORPHA:2929 |
| Tangier Disease |
|
Carotid artery stenosis, Coronary artery stenosis, Accelerated atherosclerosis, Left ventricular ... |
ORPHA:31150 |
| Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Emphysema, Joint dislocation, Arthritis, Pleural effusion |
ORPHA:36412 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Hoffmann sign, Oculomotor apraxia, Lower limb spasticity, Apraxia, Spastic tetraparesis, Abnormal... |
ORPHA:139396 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Patent foramen ovale, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventri... |
OMIM:612582 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Crazy paving pattern, ... |
OMIM:610921 |
| Congenital Disorder Of Deglycosylation 2 |
|
Genu recurvatum, Polymicrogyria, Partial agenesis of the corpus callosum, Gray matter heterotopia |
OMIM:619775 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Short stature, Wormian bones |
ORPHA:2788 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
| Lateral Meningocele Syndrome |
|
Inguinal hernia, Meningocele, Prominent metopic ridge, Umbilical hernia, Wormian bones |
ORPHA:2789 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Weight loss, Hypereosinophilia |
ORPHA:2902 |
| Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:614261 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent left superior vena cava, Pericardial effusion, Ventricular septal defect, Hypertrophic... |
OMIM:618775 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Conjugated hyperbilirubinemia... |
ORPHA:186 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Cervical spinal canal stenosis, Hypertonia, Sacral dimple, Cervical instability, Increased interv... |
ORPHA:508533 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Hypertension |
OMIM:145260 |
| Atypical Werner Syndrome |
|
Rocker bottom foot, Reduced bone mineral density, Hypertension, Aortic valve stenosis, Peripheral... |
ORPHA:79474 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Charge Syndrome |
|
Scoliosis, Hemivertebrae, Abnormal rib morphology, Omphalocele, Umbilical hernia, Down-sloping sh... |
OMIM:214800 |
| Insulin-Like Growth Factor I Deficiency |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1 |
OMIM:608747 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Short attention span, Exaggerated startle response |
OMIM:617864 |
| Osteogenesis Imperfecta, Type Xii |
|
Short stature, Wormian bones, Dentinogenesis imperfecta |
OMIM:613849 |
| Joubert Syndrome 18 |
|
Ventricular septal defect |
OMIM:614815 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
| Prader-Willi Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:176270 |
| Long-Olsen-Distelmaier Syndrome |
|
Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect |
OMIM:620609 |
| Cat Eye Syndrome |
|
Tricuspid atresia, Total anomalous pulmonary venous return, Pulmonic stenosis, Tetralogy of Fallo... |
OMIM:115470 |
| Cerebrocostomandibular Syndrome |
|
Anomalous rib insertion to vertebrae, 10 pairs of ribs, 11 pairs of ribs, Bell-shaped thorax, Rib... |
OMIM:117650 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Scoliosis, Vocal cord paralysis, Spasticity, Myoclonus |
ORPHA:500144 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Cutis laxa |
OMIM:270420 |
| Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
| Multiple Endocrine Neoplasia Type 1 |
|
Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone ... |
ORPHA:652 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... |
ORPHA:1359 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia |
ORPHA:90674 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Dystonia, Exaggerated startle response, Cyanosis |
OMIM:620423 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop... |
OMIM:618748 |
| Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Hypertonia, Periodic hyperkalemic paralysis, Fasciculations, Cerebral p... |
ORPHA:682 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Atherosclerosis, Hypertrophic cardiomyopathy, Coronary artery atheroscl... |
ORPHA:79083 |
| Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
| Autosomal Dominant Centronuclear Myopathy |
|
Large for gestational age, Thin ribs, Miscarriage |
ORPHA:169189 |
| 8Q22.1 Microdeletion Syndrome |
|
Sandal gap, Finger syndactyly, Limitation of joint mobility, Camptodactyly of finger, Short neck,... |
ORPHA:178303 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteolytic defects of the distal phalanges of the hand, Limitation of joint mobility, Aplasia/Hyp... |
ORPHA:90153 |
| Restrictive Dermopathy |
|
Scaling skin, Thoracic kyphoscoliosis, Decreased skull ossification, Aplasia/Hypoplasia of the cl... |
ORPHA:1662 |
| Tyshchenko Syndrome |
|
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:615102 |
| Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Camptodactyly, Lissencephaly, Arthrogryposis multiplex co... |
OMIM:617822 |
| Stiff-Person Syndrome |
|
Opisthotonus, Exaggerated startle response |
OMIM:184850 |
| Fliedner-Zweier Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hypoplastic aortic arch |
OMIM:620511 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Limited elbow extension, Genu valgum, Talipes equinovarus, Broad long bone diaphyses, Hyperlordos... |
OMIM:301066 |
| Serkal Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
ORPHA:139466 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Atherosclerosis, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis |
ORPHA:2348 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Short attention span, Exaggerated startle response |
ORPHA:438216 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Platyspondyly, Anterior rib cupping, Horizontal inferior border of scapula |
OMIM:102700 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
| Meconium Aspiration Syndrome |
|
Pneumothorax, Pulmonary insufficiency, Atelectasis, Pulmonary arterial hypertension, Aspiration p... |
ORPHA:70588 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:2256 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypertonia, Interrupted aortic arch, Tetraplegia, Spasticity, Abnormal aortic morphology, Pulmona... |
ORPHA:2396 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... |
ORPHA:90041 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Pectus excavatum, Umbilical hernia |
ORPHA:1519 |
| Galloway-Mowat Syndrome 1 |
|
Camptodactyly, Short stature, Abnormality of neuronal migration, Pachygyria, Intrauterine growth ... |
OMIM:251300 |
| Emanuel Syndrome |
|
Truncus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Patent ductus arteriosus, Atrial se... |
OMIM:609029 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Diaphyseal undertubulation, Abnormal vertebral morphology, Arthritis, Otosclerosis, Hypertension,... |
ORPHA:217085 |
| Lujo Hemorrhagic Fever |
|
Myocarditis, Purpura, Stiff neck, Atelectasis, Bradycardia, Hypotension, Ecchymosis, Subconjuncti... |
ORPHA:319213 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response |
OMIM:609541 |
| Acute Liver Failure |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Incoordination, Hypot... |
ORPHA:90062 |
| Antisynthetase Syndrome |
|
Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Joint dislocation,... |
ORPHA:81 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
| Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology |
ORPHA:494 |
| Spondyloocular Syndrome |
|
Platyspondyly, Pectus carinatum, Shield chest, Vertebral compression fracture |
OMIM:605822 |
| Lafora Disease |
|
Lafora bodies |
ORPHA:501 |
| Tetraamelia Syndrome 2 |
|
Hypoplastic pulmonary veins, Ventricular septal defect |
OMIM:618021 |
| Velocardiofacial Syndrome |
|
Right aortic arch with mirror image branching, Interrupted aortic arch, Pulmonary artery atresia,... |
OMIM:192430 |
| Tick-Borne Encephalitis |
|
Hyperkinetic movements, Myelitis, Tongue fasciculations, Incoordination, Tremor, Speech apraxia, ... |
ORPHA:297 |
| Porphyria, Acute Intermittent |
|
Paralysis, Hypertension, Tachycardia, Respiratory paralysis |
OMIM:176000 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Diaphyseal undertubulation, Abnormal vertebral morphology, Arthritis, Otosclerosis, Hypertension,... |
ORPHA:217093 |
| Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Peripheral pulmonary artery stenosis, Subvalvula... |
OMIM:613001 |
| Axenfeld-Rieger Syndrome |
|
Redundant skin |
ORPHA:782 |
| Barber-Say Syndrome |
|
Failure to thrive, Redundant skin, Hyperextensible skin |
ORPHA:1231 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Large for gestational age, Cubitus valgus, Hyperextensible skin, Aortic regurgitation, Abnormal s... |
OMIM:607721 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Neuronal loss in central nervous ... |
ORPHA:314404 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response |
ORPHA:320406 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect |
OMIM:147800 |
| Okamoto Syndrome |
|
Aortic valve stenosis, Prominent metopic ridge, Severe postnatal growth retardation, Omphalocele |
ORPHA:2729 |
| Char Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:46627 |
| Radio-Tartaglia Syndrome |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:619312 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
| Genitopatellar Syndrome |
|
Scoliosis, Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hypoplastic ischia, Radio... |
OMIM:606170 |
| Grant Syndrome |
|
Wormian bones |
OMIM:138930 |
| Barber-Say Syndrome |
|
Clinodactyly of the 5th finger, Premature skin wrinkling, Redundant skin, Dry skin, Micrognathia,... |
OMIM:209885 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Tremor, Exaggerated startle response |
OMIM:618056 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve, Atr... |
OMIM:121050 |
| Hunter-Macdonald Syndrome |
|
Large fontanelles, Cubitus valgus, Aortic regurgitation, Patent ductus arteriosus, Inguinal herni... |
OMIM:611962 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Coarctation of aorta, Periventricular heterotopia, Agenesis of corpus ca... |
OMIM:618929 |
| Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperextensible skin, Sandal gap, Ventricu... |
ORPHA:506358 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Kyphosis, Bilateral talipes equinovarus, Micrognathia, Pulmonary hypoplasia, ... |
OMIM:619708 |
| Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Delayed cranial suture closure |
OMIM:180860 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Inguinal hernia |
OMIM:617563 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Conotruncal defect |
ORPHA:40366 |
| Proteus Syndrome |
|
Macrodactyly, Bronchogenic cyst, Arteriovenous malformation, Asymmetry of the thorax, Abnormal fo... |
ORPHA:744 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
| Glioblastoma |
|
Paralysis |
ORPHA:360 |
| Adrenomyeloneuropathy |
|
Spastic gait, Babinski sign, Dorsal column degeneration, Spasticity, Atrophy of the spinal cord, ... |
ORPHA:139399 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Congestive heart failure, Wide anterior fontanel, Cardiomyopathy, Gray matter heterotopia, Arrhyt... |
ORPHA:26791 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Respiratory paralysis, Tetraplegia, Tremor, Ventricular fibrillation, Peri... |
ORPHA:79102 |
| Keutel Syndrome |
|
Emphysema, Premature fusion of phalangeal epiphyses, Epiphyseal stippling, Short hallux, Recurren... |
OMIM:245150 |
| Familial Thrombocytosis |
|
Transient ischemic attack, Peripheral arterial stenosis |
ORPHA:71493 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Patent foramen ovale, Biventricular hypertrophy, Ventricular septal defect, Left ventricular hype... |
OMIM:615474 |
| Cutis Marmorata Telangiectatica Congenita |
|
Arteriovenous malformation, Arterial stenosis, Patent ductus arteriosus |
ORPHA:1556 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Genu valgum, Osteolytic defects of the phalanges of the hand, Death in childhood, San... |
OMIM:619127 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Patent ductus arteriosus |
OMIM:612938 |
| Kawasaki Disease |
|
Myocarditis, Abnormal heart valve morphology, Vasculitis, Ascending tubular aorta aneurysm, Doubl... |
ORPHA:2331 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Patent foramen ovale, Right atrial enlargement, Pericardial effusion, Myocardial fibrosis, Myofib... |
OMIM:620519 |
| Dermatomyositis |
|
Myocarditis, Facial erythema, Erythema, V-sign, Cutaneous photosensitivity, Periorbital edema, Va... |
ORPHA:221 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal... |
OMIM:620066 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Redundant neck skin, Hypertrophic cardiomyopathy, Death in infancy |
OMIM:611719 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large fontanelles, Spina bifida occulta, Delayed cranial suture closure, Aortic valve stenosis, C... |
ORPHA:2780 |
| Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma |
OMIM:617100 |
| Tay-Sachs Disease |
|
Memory impairment, Tremor, Short attention span, Exaggerated startle response, Dystonia, Laryngea... |
ORPHA:845 |
| Pycnodysostosis |
|
Rhizomelia, Disproportionate short-limb short stature, Wormian bones, Delayed cranial suture clos... |
ORPHA:763 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Tachycardia, Hypertension, Orthostatic hypotension, Acrocyanosis |
OMIM:223900 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Stillbirth, Rhizomelia, Camptodactyly of 2nd-5th fingers, Inguin... |
OMIM:601803 |
| Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia, Patent ductus arter... |
OMIM:300963 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Cyanosis, Cerebral edema, Concentric hypertrophic cardiomyopathy |
OMIM:252010 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:52055 |
| Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus |
OMIM:153400 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
| Seckel Syndrome 9 |
|
Atrial septal defect, Ventricular septal defect, Pulmonary artery hypoplasia |
OMIM:616777 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic bronchitis |
OMIM:130700 |
| Osteoglophonic Dysplasia |
|
Inguinal hernia, Pectus excavatum, Camptodactyly of finger, Platyspondyly, Short neck, Hypoplasti... |
OMIM:166250 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Chronic bronchitis, Panacinar emphysema |
OMIM:613490 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Platyspondyly, Scoliosis, Dentinogenesis imperfecta |
OMIM:619269 |
| Bardet-Biedl Syndrome 1 |
|
Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, Hypogonadism... |
OMIM:209900 |
| Tenorio Syndrome |
|
Syncope, Delayed cranial suture closure, Raynaud phenomenon, Hydrocephalus |
OMIM:616260 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Portal hypertension, Cerebral berry aneurysm |
OMIM:210050 |
| Heart And Brain Malformation Syndrome |
|
Interrupted aortic arch, Ventricular septal defect |
OMIM:616920 |
| Mckusick-Kaufman Syndrome |
|
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, H... |
ORPHA:2473 |
| Adrenoleukodystrophy |
|
Neurodegeneration |
OMIM:300100 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect |
OMIM:617635 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Gastrointestinal hemorrhage, Atelectasis, Emphysema, Recurrent respiratory infectio... |
ORPHA:538 |
| Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis |
OMIM:604571 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect... |
OMIM:620233 |
| Townes-Brocks Syndrome |
|
Abnormal vertebral morphology, Clinodactyly of the 5th finger, Triphalangeal thumb, Absent toe, A... |
ORPHA:857 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia |
ORPHA:79259 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Diaphyseal dysplasia, Platyspondyly, Increased intervertebral space, Broad ischia, Thin bony cort... |
OMIM:619727 |
| Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Pulmonary artery stenosis, Ventricular septal defect |
OMIM:611812 |
| Acute Disseminated Encephalomyelitis |
|
Myelitis, Diaphragmatic paralysis, Involuntary movements, Abnormal spinal cord morphology, Hemipa... |
ORPHA:83597 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
| Fanconi Anemia, Complementation Group B |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus |
OMIM:300514 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Ankle flexion contracture, Carpal osteolysis, Wrist flexion contracture, Camptodactyly of toe, In... |
OMIM:259600 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:457193 |
| Bronchial Neuroendocrine Tumor |
|
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Increased circulati... |
ORPHA:97287 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus |
ORPHA:77298 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Flexion contracture, Hypertrophic cardiomyopathy |
OMIM:619383 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Kyphoscoliosis, Scoliosis, Tremor, Vocal cord paralysis, Poor fine motor coordination |
ORPHA:99956 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Patent ductus arteriosus, Inguinal hernia, Aortic root aneurysm, Gray matter heterotopia, Pulmoni... |
OMIM:620654 |
| Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hypertonia, Scoliosis, Ataxia, Myoclonus, Paralysis, Tetraparesis |
OMIM:203700 |
| Chromosome 18Q Deletion Syndrome |
|
Dysplastic pulmonary valve, Ascending tubular aorta aneurysm, Absence of the pulmonary valve, Dys... |
OMIM:601808 |
| Fucosidosis |
|
Vascular skin abnormality, Acrocyanosis |
ORPHA:349 |
| Sandhoff Disease |
|
Progressive psychomotor deterioration, Exaggerated startle response |
OMIM:268800 |
| Zygomycosis |
|
Pneumothorax, Hematemesis, Gastrointestinal hemorrhage, Myocarditis, Atelectasis, Melena, Acute i... |
ORPHA:73263 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Friedreich Ataxia 2 |
|
Babinski sign, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Incoordination, ... |
OMIM:601992 |
| Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm, Otosclerosis, Dentinogenesis imperfecta, Wormian bones, Bruising susceptibility |
OMIM:166200 |
| Familial Nasal Acilia |
|
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections |
ORPHA:922 |
| Ablepharon-Macrostomia Syndrome |
|
Clinodactyly of the 5th finger, Premature skin wrinkling, Redundant skin, Short metacarpal, Campt... |
OMIM:200110 |
| Primary Hyperoxaluria |
|
Heart block, Cardiomyopathy, Intermittent claudication, Cutis marmorata, Raynaud phenomenon, Acro... |
ORPHA:416 |
| Fabry Disease |
|
Congestive heart failure, Reduced bone mineral density, Abnormal femur morphology, Emphysema, Ang... |
ORPHA:324 |
| Tracheobronchopathia Osteochondroplastica |
|
Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infections |
ORPHA:3348 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Coarctation of aorta |
OMIM:617602 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hyperextensible skin, Joint hypermobility, Dermal translucency, Drumstick terminal phalanges, Sof... |
ORPHA:541423 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Neurodegeneration, Cerebellar atrophy |
OMIM:615919 |
| Aprosencephaly Syndrome |
|
Anencephaly, Aprosencephaly |
OMIM:207770 |
| Kleefstra Syndrome |
|
Pulmonary artery stenosis, Coarctation of aorta, Tetralogy of Fallot, Bicuspid aortic valve, Vent... |
ORPHA:261494 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Clinodactyly of the 5th finger, Hyperextensible skin, Finger syndactyly, Short foot, Micrognathia... |
ORPHA:1974 |
| Familial Dysautonomia |
|
Tachycardia, Hypertension, Orthostatic hypotension, Acrocyanosis |
ORPHA:1764 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration |
OMIM:606159 |
| Acromelic Frontonasal Dysostosis |
|
Persistent falcine venous sinus, Dilation of Virchow-Robin spaces, Patellar hypoplasia, Encephalo... |
OMIM:603671 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Vascular dilatation, Hydrocephalus, Hypertension, Gray matter heterot... |
OMIM:311200 |
| Myasthenia Gravis |
|
Raynaud phenomenon, Acrocyanosis |
ORPHA:589 |
| Neuromuscular Oculoauditory Syndrome |
|
Periventricular heterotopia, Wrist flexion contracture, Agenesis of corpus callosum, Knee flexion... |
OMIM:618733 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Right ventricular hypertrophy |
OMIM:208085 |
| Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Lambdoidal craniosynostosis, Aortic aneurysm, Metopic synostosis, Gray matter heterotopia, Promin... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Lambdoidal craniosynostosis, Aortic aneurysm, Metopic synostosis, Gray matter heterotopia, Promin... |
ORPHA:352665 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Abnormal heart valve morphology, Cardiomyopathy, Abnormal ao... |
ORPHA:580 |
| Hajdu-Cheney Syndrome |
|
Genu valgum, Patent ductus arteriosus, Inguinal hernia, Hydrocephalus, Dislocated radial head, Sh... |
OMIM:102500 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Hypertension associated with pheochromocytoma, Vocal cord paralysis, Carotid paraganglioma, Tachy... |
OMIM:168000 |
| White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Short stature, Patent ductus arteriosus, Wormian bones, Intraute... |
OMIM:616364 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Coronary artery atherosclerosis |
ORPHA:439232 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hydrocephalus, Histiocytoid cardiomyopathy, Colpocephaly, Agenesis of corpus callosum, Arrhythmia... |
OMIM:309801 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ascending tubular aorta aneurysm, Gray matter heterotopia, Prominent metopic ridge, Intrauterine ... |
ORPHA:453499 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atrial septal defect... |
OMIM:253800 |
| Osteogenesis Imperfecta, Type Xi |
|
Short stature, Protrusio acetabuli, Dentinogenesis imperfecta, Wormian bones |
OMIM:610968 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Arterial dissection, Arachnodactyly, Epistaxis, Umbilical hernia, Joint hypermobility, Striae dis... |
ORPHA:285 |
| Gitelman Syndrome |
|
Prolonged QT interval, Hypotension, Ataxia, Ventricular tachycardia, Paralysis, Palpitations |
OMIM:263800 |
| Adams-Oliver Syndrome 1 |
|
Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Tetralogy of Fallot, Bicuspi... |
OMIM:100300 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Ankle flexion contracture, Aortic regurgitation, Aortic valve stenosis, Abnormality of neuronal m... |
ORPHA:464311 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ventricular septal defect, Ascending tubular aorta aneurysm |
OMIM:309520 |
| Cdags Syndrome |
|
Large fontanelles, Lambdoidal craniosynostosis, Delayed cranial suture closure, Coronal craniosyn... |
OMIM:603116 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Hypoplastic aortic arch, Aortic root aneurysm, Patent foramen ovale, Hypertrophic cardiomyopathy,... |
OMIM:617506 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma, Vocal cord paralysis |
OMIM:605373 |
| Alg11-Cdg |
|
Gray matter heterotopia |
ORPHA:280071 |
| Kapur-Toriello Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:244300 |
| Papillorenal Syndrome |
|
Hyperextensible skin, Scoliosis, Hypertension, Joint hypermobility, Soft skin |
OMIM:120330 |
| Pmm2-Cdg |
|
Kyphoscoliosis, Osteopenia, Platyspondyly, Angina pectoris, Dandy-Walker malformation, Osteoporos... |
ORPHA:79318 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
| Dubowitz Syndrome |
|
Postnatal growth retardation, Spina bifida occulta, Hydrocephalus, Wide anterior fontanel, Delaye... |
ORPHA:235 |
| Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery atherosclerosis, Renal artery atherosclerosis, Cardiomyopathy, Coronary artery st... |
ORPHA:565612 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gray matter heterotopia |
OMIM:618797 |
| Congenital Lobar Emphysema |
|
Emphysema |
ORPHA:1928 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis, Coarctation of aorta |
OMIM:614114 |
| Noonan Syndrome 3 |
|
Tricuspid valve prolapse, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, M... |
OMIM:609942 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Neurodegeneration |
ORPHA:79244 |
| Mosaic Trisomy 16 |
|
Atrial septal defect, Coarctation of aorta, Abnormal heart morphology, Patent ductus arteriosus, ... |
ORPHA:1708 |
| Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
| Dysostosis, Stanescu Type |
|
Short stature, Abnormal dental enamel morphology, Wormian bones, Persistent open anterior fontanelle |
ORPHA:1798 |
| Birt-Hogg-Dubé Syndrome |
|
Pneumothorax, Pulmonary sequestration, Emphysema |
ORPHA:122 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Neurodegeneration |
OMIM:618321 |
| Frontotemporal Dementia |
|
Frontal lobe dementia, Amyotrophic lateral sclerosis, Frontotemporal dementia, Dementia |
OMIM:600274 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
| Somatomammotropinoma |
|
Anterior hypopituitarism, Pituitary growth hormone cell adenoma, Impotence, Pituitary prolactin c... |
ORPHA:314769 |
| Hajdu-Cheney Syndrome |
|
Delayed puberty, Inguinal hernia, Hydrocephalus, Aortic valve stenosis, Umbilical hernia, Short s... |
ORPHA:955 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Coronary artery atherosclerosis, Hypertrophic cardiomyopathy, Accelerated atherosclerosis, Precoc... |
ORPHA:280365 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Intestinal lymphangiectasia, Pleural lymphangiectasia, Pericardial ... |
OMIM:235510 |
| Autoimmune Hypoparathyroidism |
|
Coronary artery atherosclerosis |
ORPHA:36913 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia |
OMIM:608624 |
| Silver-Russell Syndrome |
|
Intrauterine growth retardation, Delayed cranial suture closure, Postnatal growth retardation, Sh... |
ORPHA:813 |
| Chromosome 15Q25 Deletion Syndrome |
|
Coronary artery fistula, Ventricular septal defect, Dextrocardia, Abnormal cardiac septum morphology |
OMIM:614294 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Excessive wrinkled skin, Hyperextensible skin, Scoliosis, Hyperlordosis, Prominent... |
OMIM:619950 |
| Kindler Epidermolysis Bullosa |
|
Short 4th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Flexio... |
ORPHA:2908 |
| Cardiofacioneurodevelopmental Syndrome |
|
Pulmonic stenosis, Atrioventricular canal defect, Ventricular septal defect |
OMIM:619123 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:300472 |
| Congenital Tracheal Stenosis |
|
Polyhydramnios, Cyanosis, Oligohydramnios, Fetal ascites |
ORPHA:141127 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Emphysema, Portal hypertension, Pulmonary fibrosis |
OMIM:620365 |
| Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Frontotemporal dementia, Mental deterioration, Memory imp... |
ORPHA:100070 |
| Unilateral Polymicrogyria |
|
Cyanosis, Epistaxis |
ORPHA:268943 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Spondylolysis, Spondylolisthesis, Scoliosis, Kyphosis, Platyspondyly... |
OMIM:208400 |
| Netherton Syndrome |
|
Recurrent respiratory infections, Emphysema, Dry skin |
ORPHA:634 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Emphysema, Arthritis, Bone cyst, Clubbing, Pleural ef... |
OMIM:181000 |
| Bilateral Perisylvian Polymicrogyria |
|
Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Flexion contr... |
ORPHA:98889 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Bladder exstrophy, Delayed cranial suture closure, Dislocation of the femoral head, Minimal subcu... |
OMIM:210730 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Occipital encephalocele, Anencephaly, Hydrocephalus, Type II lissencephaly, Gray matter heterotop... |
OMIM:615287 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Aplasia of the epiglottis, Narrow chest, Short clavicles, Short ribs, Postaxial hand polydactyly,... |
OMIM:617088 |
| Relapsing Polychondritis |
|
Myocarditis, Purpura, Large vessel vasculitis, Atelectasis, Vascular dilatation, Arthritis, Limit... |
ORPHA:728 |
| Marshall Syndrome |
|
Platyspondyly |
OMIM:154780 |
| Hennekam-Beemer Syndrome |
|
Delayed cranial suture closure, Hypotension, Short stature, Camptodactyly of finger, Telangiectas... |
ORPHA:2135 |
| Syndromic Diarrhea |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Bicuspid aortic valve, ... |
ORPHA:84064 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Cognitive impairment |
OMIM:617527 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Atrial septal defect, Patent foramen ovale, Pericardial effusion, Dilated cardiomyopathy, Ventric... |
ORPHA:26793 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Coarctation of aorta |
OMIM:614921 |
| Osteogenesis Imperfecta, Type Xx |
|
Intrauterine growth retardation, Wormian bones, Disproportionate short-limb short stature |
OMIM:618644 |
| Mucopolysaccharidosis, Type Ii |
|
Neurodegeneration |
OMIM:309900 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Cerebral atrophy, Neurodegeneration |
OMIM:616878 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Left superior vena cava draining to coronary sinus, Pulmonic stenosis, Mitral valve prolapse, Pat... |
OMIM:602782 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Short stature, Delayed cranial suture closure, Severe postnatal growth retardation |
OMIM:613038 |
| Kosaki Overgrowth Syndrome |
|
Thoracolumbar scoliosis, Scoliosis, Hyperextensible skin |
OMIM:616592 |
| X Small Rings |
|
Bicuspid aortic valve, Mitral stenosis, Ventricular septal defect, Aortic root aneurysm |
ORPHA:96201 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema, Emphysema |
OMIM:618307 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Pituitary dwarfism, Bradycardia, Delayed cranial suture closure, Growth delay, Agenesis of corpus... |
ORPHA:226307 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Clinodactyly of the 5th finger, Colpocephaly, Short thumb, Brachydactyly, Tapered finger |
ORPHA:477993 |
| Orofaciodigital Syndrome V |
|
Ventricular septal defect, Tetralogy of Fallot |
OMIM:174300 |
| Sotos Syndrome |
|
Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Umbilical hernia, Joint hypermobilit... |
ORPHA:821 |
| Postinfectious Vasculitis |
|
Ischemic stroke, Palpable purpura, Hypertension, Cardiomyopathy, Vasculitis in the skin, Cutis ma... |
ORPHA:48435 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Abnormal dental enamel morphology, Delayed cranial suture closure, Wide anteri... |
ORPHA:85199 |
| Orofaciodigital Syndrome Ii |
|
Hydrocephalus, Wormian bones, Short stature |
OMIM:252100 |
| Cardiomyopathy, Dilated, 1U |
|
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... |
OMIM:613694 |
| Vici Syndrome |
|
Postnatal growth retardation, Congestive heart failure, Cardiomyopathy, Gray matter heterotopia, ... |
OMIM:242840 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis |
OMIM:617239 |
| Loeys-Dietz Syndrome 5 |
|
Aortic root aneurysm, Patent foramen ovale, Ascending aortic dissection, Atrial septal defect, Ve... |
OMIM:615582 |
| Gitelman Syndrome |
|
Prolonged QT interval, Prominent U wave, Syncope, Low-to-normal blood pressure, ST segment depres... |
ORPHA:358 |
| Aicardi-Goutières Syndrome |
|
Tremor, Hypertrophic cardiomyopathy, Prolonged neonatal jaundice, Dystonia, Cutis marmorata, Rayn... |
ORPHA:51 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Posterior scalloping of vertebral bodies, Ataxia, Irregular vertebral endplates, Platyspondyly, S... |
OMIM:610442 |
| African Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Myelitis, Fasciculations, Tremor, Involuntary movements, A... |
ORPHA:3385 |
| Digeorge Syndrome |
|
Right aortic arch with mirror image branching, Atelectasis, Patent ductus arteriosus, Interverteb... |
OMIM:188400 |
| Acromegaly |
|
Anterior hypopituitarism, Abnormality of the endocrine system, Long penis, Pituitary growth hormo... |
ORPHA:963 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure |
ORPHA:1129 |
| Orofaciodigital Syndrome Type 6 |
|
Short stature, Abnormality of neuronal migration, Growth delay |
ORPHA:2754 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Clinodactyly of the 5th finger, Proximal placement of thumb, Adducted thumb,... |
OMIM:604314 |
| Stickler Syndrome |
|
Spondylolisthesis, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scol... |
ORPHA:828 |
| Distal Deletion 19P |
|
Pulmonary valve atresia, Tricuspid valve prolapse, Ventricular septal defect |
ORPHA:96129 |
| Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Patent ductus arteriosus |
OMIM:613309 |
| Pitt-Hopkins Syndrome |
|
Short metatarsal, Acrocyanosis, Broad fingertip, Finger clinodactyly, Tapered finger, Small hand |
ORPHA:2896 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short stature, Large fontanelles, Wide cranial sutures |
OMIM:257850 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Aortic root aneurysm, Aortopulmonary window, Pulmonary artery hypoplasia, Aortopulmonary collater... |
OMIM:620025 |
| Coffin-Siris Syndrome 4 |
|
Pulmonary artery atresia, Mitral atresia, Pulmonic stenosis, Patent ductus arteriosus, Atrial sep... |
OMIM:614609 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe postnatal growth retardation, Delayed cranial suture closure, Pulmonary arterial hypertens... |
OMIM:620005 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Prominent floating ribs, Pectus excavatum, Pulmonary arterial hypertension, Failur... |
ORPHA:2785 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Dystonia, Exaggerated startle response |
ORPHA:521426 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Micrognathia, Increased number of skin folds, Umbilical hernia |
ORPHA:2505 |
| Craniofacioskeletal Syndrome |
|
Interrupted aortic arch, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:300712 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
| Common Variable Immunodeficiency |
|
Purpura, Emphysema, Recurrent bronchitis, Vasculitis, Bronchiectasis, Pneumonia, Failure to thriv... |
ORPHA:1572 |
| Trisomy 10P |
|
Camptodactyly, Growth delay, Simplified gyral pattern, Wide cranial sutures, Intrauterine growth ... |
ORPHA:171929 |
| Doors Syndrome |
|
Double outlet right ventricle |
ORPHA:79500 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Emphysema, Recurrent bronchopulmonary infections, Failure to thrive, Recurrent pneumonia, Bronchi... |
OMIM:242700 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Aortic aneurysm |
ORPHA:261330 |
| Periventricular Nodular Heterotopia 9 |
|
Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia, Prominent metopic r... |
OMIM:618918 |
| Rubinstein-Taybi Syndrome 1 |
|
Postnatal growth retardation, Spina bifida occulta, Dislocated radial head, Wide anterior fontane... |
OMIM:180849 |
| Mismatch Repair Cancer Syndrome 1 |
|
Gray matter heterotopia, Agenesis of corpus callosum |
OMIM:276300 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Delayed cranial suture closure, Inguinal hernia, Heart murmur |
OMIM:618653 |
| Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Ventricular septal defect |
ORPHA:268249 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Exaggerated startle response |
OMIM:620451 |
| Saethre-Chotzen Syndrome |
|
Short stature, Craniosynostosis, Delayed cranial suture closure, Proximal radio-ulnar synostosis |
ORPHA:794 |
| Lowe Oculocerebrorenal Syndrome |
|
Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... |
OMIM:309000 |
| Chime Syndrome |
|
Ventricular septal defect, Pulmonary valve atresia, Transposition of the great arteries, Tetralog... |
ORPHA:3474 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
| Immunodeficiency 89 And Autoimmunity |
|
Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla, Decreased eosi... |
OMIM:619632 |
| Sarcoidosis |
|
Pneumothorax, Heart block, Emphysema, Chylothorax, Bone cyst, Abnormal cardiac ventricular functi... |
ORPHA:797 |
| Van Esch-O'Driscoll Syndrome |
|
Pulmonary artery stenosis, Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect |
OMIM:301030 |
| Pycnodysostosis |
|
Short stature, Persistent open anterior fontanelle, Wormian bones |
OMIM:265800 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
| Tyrosinemia, Type I |
|
Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Hypertrophic cardiomyopathy, Per... |
OMIM:276700 |
| Sponastrime Dysplasia |
|
Kyphoscoliosis, Hyperconvex vertebral body endplates, Abnormality of the vertebral column, Scolio... |
ORPHA:93357 |
| Multiple System Atrophy 1, Susceptibility To |
|
Neurodegeneration |
OMIM:146500 |
| Chediak-Higashi Syndrome |
|
Neurodegeneration |
OMIM:214500 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Redundant neck skin, Sacral dimple, Cubitus valgus, Short metatarsal, Short metacarpal, Failure t... |
OMIM:617157 |
| D-Bifunctional Protein Deficiency |
|
Polymicrogyria, Large fontanelles, Delayed cranial suture closure |
OMIM:261515 |
| Whim Syndrome |
|
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Tetralogy of Fallo... |
ORPHA:51636 |
| Alzahrani-Kuwahara Syndrome |
|
Patent foramen ovale, Coronary sinus enlargement, Persistent left superior vena cava, Atrial sept... |
OMIM:619268 |
| Arima Syndrome |
|
Occipital meningocele, Hypertension, Gray matter heterotopia |
OMIM:243910 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis |
OMIM:618426 |
| Fanconi Anemia, Complementation Group N |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610832 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Polymicrogyria, Holoprosencephaly, Simplified gyral pattern, Patent duct... |
OMIM:615948 |
| Coffin-Siris Syndrome |
|
Abnormal heart morphology, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, V... |
ORPHA:1465 |
| Nocardiosis |
|
Pneumothorax, Emphysema, Pleuritis, Pleural effusion, Pericarditis, Weight loss, Pneumonia, Osteo... |
ORPHA:31204 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... |
OMIM:300967 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Brachydactyly |
ORPHA:293987 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus |
OMIM:620558 |
| Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Atelectasis, Osteomyelitis |
OMIM:306400 |
| Neurofibromatosis Type 1 |
|
Arterial stenosis |
ORPHA:636 |
| Cleidocranial Dysplasia 1 |
|
Large fontanelles, Short stature, Enamel hypoplasia, Persistent open anterior fontanelle, Moderat... |
OMIM:119600 |
| Limb Body Wall Complex |
|
Spina bifida occulta, Abnormality of the vertebral column, Spina bifida, Abnormal spinal cord mor... |
ORPHA:2369 |
| Diamond-Blackfan Anemia 1 |
|
Congestive heart failure, Spina bifida occulta, Delayed cranial suture closure, Tricuspid stenosi... |
OMIM:105650 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Postnatal growth retardation, Delayed cranial suture closure, Short stature, Growth delay, Intrau... |
ORPHA:93325 |
| Feingold Syndrome 1 |
|
Tricuspid atresia, Interrupted aortic arch, Tricuspid stenosis, Patent ductus arteriosus, Ventric... |
OMIM:164280 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615503 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... |
OMIM:612474 |
| Alpha-1-Antitrypsin Deficiency |
|
Bronchiectasis, Bronchitis, Emphysema |
ORPHA:60 |
| Hardikar Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Pulmonary artery stenosis, Coarctation of aorta, ... |
OMIM:301068 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Cardiomegaly, Ventricular septal defect, Patent ductus arteriosus |
ORPHA:96191 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Coarctation of aorta, Ventricular septal defect, Dextrocardia |
OMIM:616145 |
| Thauvin-Robinet-Faivre Syndrome |
|
Varicose veins, Ventricular septal defect, Mitral valve prolapse |
OMIM:617107 |
| Pachydermoperiostosis |
|
Hyperhidrosis, Elevated circulating growth hormone concentration |
ORPHA:2796 |
| Renal Agenesis |
|
Ventricular septal defect |
ORPHA:411709 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology, Hemiparesis, Ataxia, Arrhythmia |
ORPHA:68 |
| Nijmegen Breakage Syndrome |
|
Abnormality of neuronal migration |
ORPHA:647 |
| Coffin-Siris Syndrome 12 |
|
Hip subluxation, Ridged cranial sutures, Delayed cranial suture closure, Short stature, Radioulna... |
OMIM:619325 |
| Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
| Diamond-Blackfan Anemia |
|
Coarctation of aorta, Abnormal heart morphology, Atrial septal defect, Ventricular septal defect,... |
ORPHA:124 |
| Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
| Pick Disease Of Brain |
|
Neuronal loss in central nervous system |
OMIM:172700 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Cerebral degeneration, Neurodegeneration, Global brain atrophy |
OMIM:234200 |
| Omodysplasia 1 |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
| Diets-Jongmans Syndrome |
|
Ventricular septal defect, Interrupted inferior vena cava with azygous continuation |
OMIM:618846 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Lumbar scoliosis, Shield chest, Irregular vertebral endplates, Platyspondyly, Short neck, Multipl... |
ORPHA:99646 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Varicose veins, Mitral valve prolapse, Ventricular septal defect, Abnormal right ventricle morpho... |
ORPHA:500095 |
| Goodpasture Syndrome |
|
Pulmonary hemorrhage, Cyanosis |
OMIM:233450 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Aortic valve stenosis, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Vascul... |
ORPHA:353281 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal left ventricle morphology, Patent ductus arteriosus, Patent foramen ovale, Ebstein anoma... |
ORPHA:466791 |
| Chand Syndrome |
|
Short fifth metatarsal, Atelectasis, Dry skin |
ORPHA:1401 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurodegeneration |
OMIM:619475 |
| Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Camptodactyly, Short stature, Pericarditis, Radioulnar synostosis |
OMIM:601088 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Patent ductus art... |
ORPHA:3047 |
| Primary Sjögren Syndrome |
|
Purpura, Arteritis, Chorea, Vasculitis, Abnormal spinal cord morphology, Raynaud phenomenon |
ORPHA:289390 |
| Renpenning Syndrome 1 |
|
Situs inversus totalis, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot |
OMIM:309500 |
| Tetrasomy 9P |
|
Sacral dimple, Juxtaductal coarctation of the aorta, Pulmonary arterial hypertension, Pericarditi... |
ORPHA:3310 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Dilatation of the ven... |
ORPHA:459070 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Biventricular hypertrophy, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Anomal... |
OMIM:616462 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent foramen ovale, Anomalous origin of left subclavian artery, Pulmonic stenosis, Abnormal hea... |
ORPHA:438213 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Neurodegeneration, Patent ductus arteriosus |
OMIM:620455 |
| Noonan Syndrome 1 |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis, Coarctation of aorta, Patent ductus arteriosus, A... |
OMIM:163950 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal dementia, Mental deterioration, Memory impairment |
ORPHA:275864 |
| Neu-Laxova Syndrome 1 |
|
Patent foramen ovale, Transposition of the great arteries, Ventricular septal defect, Patent duct... |
OMIM:256520 |
| Mowat-Wilson Syndrome |
|
Pulmonic stenosis, Pulmonary artery stenosis, Abnormal heart morphology, Patent ductus arteriosus... |
OMIM:235730 |
| Leprechaunism |
|
Hyperextensible skin, Decreased body weight, Hypertrophic cardiomyopathy, Failure to thrive, Larg... |
ORPHA:508 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
| Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
| Saethre-Chotzen Syndrome |
|
Lambdoidal craniosynostosis, Delayed cranial suture closure, Short stature, Coronal craniosynosto... |
OMIM:101400 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal heart valve morphology, Cherry red spot of the macula, Coronary artery atherosclerosis |
ORPHA:77293 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Attention deficit hyperactivity disorder, Exaggerated startle response |
OMIM:619522 |
| Mowat-Wilson Syndrome |
|
Genu valgum, Polymicrogyria, Camptodactyly, Pulmonic stenosis, Aortic valve stenosis, Coarctation... |
ORPHA:2152 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... |
OMIM:149730 |
| Penile Agenesis |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:49 |
| Primrose Syndrome |
|
Neurodegeneration |
OMIM:259050 |
| Acne Inversa, Familial, 3 |
|
|
OMIM:613737 |
