| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Edema |
OMIM:613267 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
| Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Elevated circulating follicle stimulating hormone level, Decreased... |
OMIM:618723 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Early sperm... |
OMIM:619949 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
| Lipedema |
|
Edema |
OMIM:614103 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
| Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
| Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618014 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Secondary amenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
| Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
| Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Gon... |
OMIM:612964 |
| Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
| Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Cerebral cortex with spongiform changes, Neurofibrillary tangles |
OMIM:605055 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
| Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
| Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Irregular menstruation, Premature ovarian insufficiency |
OMIM:311360 |
| Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Premature Ovarian Failure 9 |
|
Amenorrhea, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:615724 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
| Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
| Leydig Cell Hypoplasia, Type I |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level |
OMIM:238320 |
| Alzheimer Disease 2 |
|
Neurofibrillary tangles |
OMIM:104310 |
| Angioedema, Hereditary, 6 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619363 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Ovarian Dysgenesis 4 |
|
Elevated circulating follicle stimulating hormone level, Primary amenorrhea, Decreased serum estr... |
OMIM:616185 |
| Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:618187 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... |
OMIM:612965 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis |
OMIM:233300 |
| Lymphatic Malformation 11 |
|
Lymphedema, Pedal edema |
OMIM:619401 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
| 46,Xy Sex Reversal 1 |
|
Sex reversal, Male pseudohermaphroditism, Elevated circulating luteinizing hormone level, Abnorma... |
OMIM:400044 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Elevated circulating luteinizing hormone level, Elevated circulating follicle sti... |
OMIM:176400 |
| Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles |
OMIM:104300 |
| Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Blind vagina, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:300068 |
| Alzheimer Disease 9, Susceptibility To |
|
Hippocampal atrophy, Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:608907 |
| Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
| Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
| 46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
| Pseudodiastrophic Dysplasia |
|
Platyspondyly, Scoliosis, Omphalocele |
ORPHA:85174 |
| Aneurysm Of Interventricular Septum |
|
Vascular dilatation, Abnormal ventricular septum morphology |
OMIM:105805 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... |
OMIM:613854 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Kaposi Sarcoma, Susceptibility To |
|
Edema |
OMIM:148000 |
| Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies, Short thorax |
ORPHA:93302 |
| Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Decreased circulating follicle stimu... |
OMIM:229070 |
| Hyperprolactinemia |
|
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
| Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
| Lymphatic Malformation 2 |
|
Lymphedema |
OMIM:611944 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Neurofibrillary tangles |
OMIM:619132 |
| Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Kyphoscoliosis, Platyspondyly, Short thorax |
ORPHA:93304 |
| Factor V Excess With Spontaneous Thrombosis |
|
Peripheral arterial stenosis |
OMIM:134400 |
| Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
| Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis |
OMIM:185500 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Costal cartilage calcification, Chondrocalcinosis, Costochondr... |
OMIM:118610 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Intraut... |
OMIM:615411 |
| Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
| Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Abnormal bleeding, Intraventricular hemorrhage, Subarac... |
ORPHA:284388 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Subcortical band heterotopia, Pachygyria, Dilatio... |
OMIM:607432 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Angioedema, Hereditary, 5 |
|
Angioedema, Facial edema, Edema of the dorsum of hands |
OMIM:619361 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Myelomeningocele, Rib fusion, Hemivertebrae, Unilateral vertebral ... |
OMIM:613686 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Premature coronary artery atherosclerosis |
OMIM:604091 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Abnormality of the abdominal wall, Lumbar hyperlordosis, Narrow vertebral interpedicular distance... |
OMIM:602557 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
| Isolated Klippel-Feil Syndrome |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Ab... |
ORPHA:2345 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
| Sprengel Deformity |
|
Sprengel anomaly, Hemivertebrae, Scoliosis, Spina bifida occulta, Cervical segmentation defect, R... |
OMIM:184400 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, ... |
OMIM:277300 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Contracture of the proximal interphalangeal ... |
OMIM:609813 |
| Dementia, Lewy Body |
|
Lewy bodies |
OMIM:127750 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Pectus carinatum, ... |
OMIM:609223 |
| Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Vertebral clefting, Hemivertebrae, Short neck |
OMIM:608681 |
| Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
| Spondylocamptodactyly Syndrome |
|
Camptodactyly of finger, Platyspondyly, Scoliosis |
ORPHA:3180 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Platyspondyly, Short neck, Abnormal rib morphology, O... |
ORPHA:93267 |
| Moderate Hemophilia A |
|
Joint hemorrhage, Subdural hemorrhage, Subcutaneous hemorrhage, Bleeding with minor or no trauma,... |
ORPHA:169805 |
| Alzheimer Disease 4 |
|
Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:606889 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size |
ORPHA:393 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles |
OMIM:616840 |
| Familial Cervical Artery Dissection |
|
Carotid artery dilatation, Stroke, Recurrent cerebral hemorrhage, Facial palsy, Subarachnoid hemo... |
ORPHA:36382 |
| Grange Syndrome |
|
Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus |
ORPHA:79094 |
| Aneurysm, Intracranial Berry, 12 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Internal carotid ar... |
OMIM:618734 |
| Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Agenesis of... |
OMIM:600348 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormal rib morphology, Scoliosis, Pectus carinatum |
ORPHA:3268 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased circulating androgen concentration, Decreased fertility in males, Hypergonadotropic hyp... |
ORPHA:90796 |
| Schneckenbecken Dysplasia |
|
Narrow chest, Narrow vertebral interpedicular distance, Short ribs, Platyspondyly, Short neck, An... |
OMIM:269250 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Posterior cerebral artery stenosis, Stroke, Thoracic aortic aneurysm, Coro... |
OMIM:132900 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Sprengel anomaly, Prune belly, Thoracolumbar scoliosis, Cervical ribs, Omphalocele |
OMIM:601389 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Abnormal 5th metacarpal morphology, Cone-shaped epiphysis, Short digit, Rhizomelic arm shortening... |
ORPHA:397715 |
| Hemophilia A |
|
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... |
ORPHA:98878 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of secondary sex characteristics, Sec... |
ORPHA:2410 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Gray matter heterotopia, Polymicrogyria, Lissencephaly, Abnormality of neuronal migration, Simpli... |
OMIM:604317 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
| Familial Aortic Dissection |
|
Carotid artery dilatation, Peripheral arterial stenosis, Stroke, Mucoid extracellular matrix accu... |
ORPHA:229 |
| Dental Anomalies And Short Stature |
|
Narrow vertebral interpedicular distance, Platyspondyly, Herniation of intervertebral nuclei, Int... |
OMIM:601216 |
| Femoral-Facial Syndrome |
|
Vertebral segmentation defect, Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the... |
ORPHA:1988 |
| Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Female hypogonadism |
ORPHA:397685 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Platyspondyly, Flared, irregular rib ends |
ORPHA:168555 |
| Trigonocephaly 1 |
|
Lumbar hemivertebrae, Omphalocele |
OMIM:190440 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins |
OMIM:126320 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Lewy bodies, Neurofibrillary tangles |
OMIM:607485 |
| Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Anterior beaking of lumbar vertebrae, Platyspondyly |
OMIM:271620 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Posterior rib fusion, Spina bifida occulta,... |
ORPHA:1797 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Cerebral amyloid angiopathy, Neurofibrillary tangles |
OMIM:117300 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Dysplastic corpus callosum, Gray matter heterotopia, Polymicrogyria, Partial agene... |
OMIM:604213 |
| Brachyolmia Type 1, Toledo Type |
|
Irregular vertebral endplates, Squared-off platyspondyly, Kyphoscoliosis, Precocious costochondra... |
OMIM:271630 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Omphalocele, Abnormality of neuronal migration, Spina bifida |
ORPHA:945 |
| Alzheimer Disease 3 |
|
Cerebral cortical atrophy, Neurofibrillary tangles |
OMIM:607822 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
| Dysosteosclerosis |
|
Short sternum, Osteopenia, Platyspondyly, Sclerotic scapulae, Broad ribs, Delayed closure of the ... |
OMIM:224300 |
| Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
| Spondylocamptodactyly |
|
Cervical platyspondyly, Scoliosis, Camptodactyly of finger, Camptodactyly |
OMIM:600000 |
| Caudal Duplication |
|
Vertebral segmentation defect, Myelomeningocele, Bifid sacrum, Omphalocele, Abnormal sacrum morph... |
ORPHA:1756 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Brachyolmia Type 1, Hobaek Type |
|
Kyphosis, Squared-off platyspondyly, Back pain, Short neck, Scoliosis, Pectus carinatum, Interver... |
OMIM:271530 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Coarctation of aorta, Perimembranous ventricular septal defect |
OMIM:212090 |
| Thanatophoric Dysplasia Type 2 |
|
Narrow chest, Kyphosis, Hydrocephalus, Limitation of joint mobility, Holoprosencephaly, Redundant... |
ORPHA:93274 |
| Tetralogy Of Fallot |
|
Tetralogy of Fallot |
OMIM:187500 |
| Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Thanatophoric Dysplasia |
|
Narrow chest, Kyphosis, Joint stiffness, Hydrocephalus, Redundant skin, Hip dysplasia, Platyspond... |
ORPHA:2655 |
| Slc35A2-Cdg |
|
Craniosynostosis, Osteopenia, Hip subluxation, Limb joint contracture, Failure to thrive in infan... |
ORPHA:356961 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Brain atrophy, Cerebral cortical hemiatrophy, Scoliosis, Hemiatrophy, Lateral ventricle dilatation |
ORPHA:306669 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
| Endosteal Hyperostosis, Worth Type |
|
Abnormal rib morphology, Sclerotic vertebral body, Clavicular sclerosis, Abnormal form of the ver... |
ORPHA:2790 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Pectus excavatum, Abnormal clavicle morphology, Abnormal hip bone morphology, Micrognat... |
ORPHA:2522 |
| Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Peripheral arterial stenosis, Retinal arteriolar constriction |
OMIM:124950 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Internal Carotid Absence |
|
Dilatation of the cerebral artery, Subarachnoid hemorrhage, Cerebral ischemia |
ORPHA:981 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
| Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:1354 |
| Boomerang Dysplasia |
|
Narrow chest, Abnormally ossified vertebrae, Aplasia/Hypoplasia of the abdominal wall musculature... |
ORPHA:1263 |
| Atelosteogenesis, Type I |
|
Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Rhizomelia, Clubbing, Multinucleate... |
OMIM:108720 |
| Abetal34V Amyloidosis |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324703 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Kniest Dysplasia |
|
Enlarged joints, Flexion contracture of finger, Platyspondyly, Short neck, Abnormal bone structur... |
ORPHA:485 |
| Osteogenesis Imperfecta, Type Xvii |
|
Platyspondyly, Intraventricular hemorrhage, Scoliosis, Vertebral compression fracture |
OMIM:616507 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Joint stiffness, Hydrocephalus, Coarse metaphyseal trabecularization, Hal... |
ORPHA:2635 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
| Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Agenesis of corpus callosum, Subcortical heterotopia, Polymicr... |
ORPHA:101029 |
| Fibrochondrogenesis |
|
Narrow chest, Wide anterior fontanel, Short ribs, Camptodactyly of finger, Short neck, Abnormal f... |
ORPHA:2021 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Posterior rib fusion, Pectus carinatum... |
OMIM:122600 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Short neck, Hammertoe, Aortic root aneurysm, Umbilical hernia, Carotid artery stenosi... |
OMIM:618000 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Brain atrophy, Small for gestational age, Micrognathia, Recurrent upper respiratory tract infecti... |
ORPHA:3078 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Cerebral Cavernous Malformations 2 |
|
Cerebral cavernous malformation, Telangiectasia, Stroke, Cerebral hemorrhage |
OMIM:603284 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
| Lissencephaly, X-Linked, 1 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Postnatal growth retardation, Pachygyria, Agenesi... |
OMIM:300067 |
| Marshall-Smith Syndrome |
|
Hydrocephalus, Pectus excavatum, Short sternum, Accelerated skeletal maturation, Slender finger, ... |
OMIM:602535 |
| Brachyolmia Type 2 |
|
Platyspondyly |
OMIM:613678 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Symphalangism affecting the phalang... |
OMIM:186500 |
| Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Pectus excavatum, Clinodactyly of the 5th finger, Cutis laxa, Craniosynosto... |
OMIM:619451 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Schmorl's node, Platyspondyly |
OMIM:604864 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Kyphosis, Rib fusion, Anomalous pulmonary venous return, Camptodac... |
ORPHA:2311 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome |
|
Lymphedema |
ORPHA:69061 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
| Cardiomyopathy, Dilated, 2G |
|
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Mitral regurgitation... |
OMIM:619897 |
| Lissencephaly 3 |
|
Gray matter heterotopia, Polymicrogyria, Agyria, Lissencephaly, Pachygyria, Agenesis of corpus ca... |
OMIM:611603 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Enlarged thorax, Abnormal vertebral segmentation and fusion, Short neck, Absent... |
ORPHA:66637 |
| Fanconi Anemia, Complementation Group I |
|
Decreased body weight, Decreased response to growth hormone stimulation test, Absent thumb, Pallo... |
OMIM:609053 |
| Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly |
OMIM:616583 |
| Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae, Agenesis of corpus callosum |
ORPHA:238722 |
| Becker Nevus Syndrome |
|
Kyphosis, Rib fusion, Pectus excavatum, Scoliosis, Micromelia, Spina bifida occulta, Pectus carin... |
ORPHA:64755 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly |
OMIM:184095 |
| Poland Syndrome |
|
Sprengel anomaly, Rib fusion, Unilateral oligodactyly, Short ribs, Hemivertebrae, Unilateral brac... |
OMIM:173800 |
| Cerebral Amyloid Angiopathy, Cst3-Related |
|
Intracranial hemorrhage, Stroke, Cerebral hemorrhage |
OMIM:105150 |
| Aneurysm, Intracranial Berry, 1 |
|
Intracranial hemorrhage, Dilatation of the cerebral artery |
OMIM:105800 |
| Omphalocele, Autosomal |
|
Inguinal hernia, Omphalocele |
OMIM:164750 |
| Aneurysm, Intracranial Berry, 2 |
|
Cerebral berry aneurysm, Subarachnoid hemorrhage |
OMIM:608542 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
| Edema, Familial Idiopathic, Prepubertal |
|
Edema |
OMIM:129840 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Premature coronary artery atherosclerosis, Thoracic aortic aneurysm, Ascending aortic dissection,... |
OMIM:611788 |
| Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria |
OMIM:614483 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Abnormal form of the vertebral bodies, Missing... |
ORPHA:1801 |
| Thanatophoric Dysplasia Type 1 |
|
Hydrocephalus, Excessive wrinkled skin, Femoral bowing, Platyspondyly, Micromelia, Bowing of the ... |
ORPHA:1860 |
| Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema |
ORPHA:86914 |
| Malan Overgrowth Syndrome |
|
Pectus excavatum, Accelerated skeletal maturation, Scoliosis, Slender long bone, Lateral ventricl... |
ORPHA:420179 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Familial Afibrinogenemia |
|
Miscarriage, Cerebral hemorrhage, Abnormal bleeding, Gingival bleeding, Epistaxis |
ORPHA:98880 |
| Cerebral Cavernous Malformations |
|
Cerebral cavernous malformation, Intracranial hemorrhage |
OMIM:116860 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebra... |
ORPHA:40 |
| Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
| Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Coarctation of aorta, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale, ... |
OMIM:610338 |
| Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Pectus excavatum, Dentinogenesis imperfecta, Platyspondyly, Scoliosis, Pectus carinatum... |
OMIM:259440 |
| Microlissencephaly |
|
Periventricular heterotopia, Polymicrogyria, Lissencephaly, Simplified gyral pattern, Pachygyria,... |
ORPHA:1083 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Death in childhood, Intraventricular hemorrhage, Scoliosis, Death in adolescence, Neonatal death,... |
OMIM:619055 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Severe postnatal growth retardation, Wide anterior fontanel, Omphalocele, Umbilical hernia |
OMIM:275100 |
| Afibrinogenemia, Congenital |
|
Abnormal umbilical stump bleeding, Persistent bleeding after trauma, Subdural hemorrhage, Bruisin... |
OMIM:202400 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Failure to thrive, Hydrocephalus, Pectus excavatum, Bruising susceptibility, Excessive wrinkled s... |
OMIM:612940 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Pectus excavatum, Short neck, Hypermobility of interphalangeal joints, Cervical he... |
ORPHA:508498 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum... |
ORPHA:370010 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion, Micrognathia |
OMIM:221950 |
| Polyhydramnios, Chronic Idiopathic |
|
Polyhydramnios |
OMIM:263610 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal vertebral morphology, Platyspondyly |
ORPHA:163665 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Lewy bodies |
OMIM:614251 |
| Ring Chromosome 21 Syndrome |
|
Holoprosencephaly, Fused thoracic vertebrae, Small hand, Scoliosis, Syndactyly, Abnormal thorax m... |
ORPHA:1445 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Craniosynostosis, Bilateral talipes equinovarus, Micrognathia, Short neck, Lateral ventricle dila... |
ORPHA:284417 |
| Atrioventricular Septal Defect 5 |
|
Atrioventricular canal defect, Muscular ventricular septal defect |
OMIM:614474 |
| Cyanosis And Hepatic Disease |
|
Cyanosis, Clubbing |
OMIM:219400 |
| Abeta Amyloidosis, Italian Type |
|
Stroke, Cerebral hemorrhage |
ORPHA:324713 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus, Omphalocele |
OMIM:258320 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Platyspondyly, Pectus carinatum, Enlargement of the costochondral junction, Ovoid vertebral bodie... |
OMIM:609052 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Advanced ossification of carpal bones, Kyphoscoliosis, Decreased body weight, ... |
OMIM:615349 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
| Parkinson Disease 21 |
|
Lewy bodies |
OMIM:616361 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
| Pituicytoma |
|
Abnormality of the pituitary gland, Amenorrhea, Impotence, Decreased serum testosterone concentra... |
ORPHA:251623 |
| Morquio Syndrome C |
|
Platyspondyly |
OMIM:252300 |
| Congenital Factor Xiii Deficiency |
|
Joint hemorrhage, Abnormal umbilical stump bleeding, Cerebral hemorrhage, Persistent bleeding aft... |
ORPHA:331 |
| Periventricular Nodular Heterotopia 1 |
|
Gray matter heterotopia, Stroke, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of ne... |
OMIM:300049 |
| Cerebral Cavernous Malformations 3 |
|
Cerebral cavernous malformation, Cerebral hemorrhage |
OMIM:603285 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Cerebral cortical atrophy, Neurofibrillary tangles |
ORPHA:1020 |
| Frontometaphyseal Dysplasia 1 |
|
Craniosynostosis, Increased density of long bone diaphyses, Partial fusion of tarsals, Genu valgu... |
OMIM:305620 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Clinodactyly of the 5th finger, Coxa valga, Finger syndactyly, Ad... |
ORPHA:3320 |
| Chilblain Lupus 2 |
|
Edema |
OMIM:614415 |
| Abeta Amyloidosis, Iowa Type |
|
Stroke, Cerebral hemorrhage, Abnormal cerebral vascular morphology |
ORPHA:324708 |
| Anauxetic Dysplasia 3 |
|
Narrow chest, Beaking of vertebral bodies, Wide anterior fontanel, Pectus excavatum, Metaphyseal ... |
OMIM:618853 |
| Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly |
OMIM:269630 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Brachydactyly, Scoliosis, Fused cervical vertebrae, Short middle phalanx of finger, Abnormal sacr... |
ORPHA:1436 |
| Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Platyspondyly, Scoliosis, Anterior rib cupping, Thoracic hypoplasia |
OMIM:602271 |
| Distal Monosomy 10Q |
|
Failure to thrive, 2-3 toe cutaneous syndactyly, Lumbar hyperlordosis, Pectus excavatum, Clinodac... |
ORPHA:96148 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Angina pectoris, Kyphosis, Abnormal sternum morphology, Medial calcification of medium-sized arte... |
OMIM:177850 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Down-sloping shoulders, Ulnar deviation of finger, Pulmo... |
OMIM:265000 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... |
OMIM:615300 |
| Isolated Hemihyperplasia |
|
Myelomeningocele, Scoliosis, Asymmetry of the thorax, Inguinal hernia |
ORPHA:2128 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia |
ORPHA:1084 |
| Partial Atrioventricular Septal Defect |
|
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... |
ORPHA:1330 |
| Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
| Scarf Syndrome |
|
Short sternum, Cutis laxa, Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, P... |
ORPHA:3134 |
| Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Cyanosis, Hydrops fetalis, Pulmonar... |
ORPHA:2414 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly, Short thorax |
ORPHA:93283 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... |
OMIM:184100 |
| Mosaic Trisomy 1 |
|
2-3 finger syndactyly, Finger clinodactyly, Pulmonary hypoplasia, Complete duplication of thumb p... |
ORPHA:1692 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Hydrocephalus, Accelerated skeletal maturation, Craniosynostosis, Osteopenia, Metacarpophalangeal... |
OMIM:245600 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Periostitis, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis, Bro... |
OMIM:612852 |
| Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Lewy bodies |
OMIM:619133 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Platyspondyly |
OMIM:608361 |
| Fibrodysplasia Ossificans Progressiva |
|
Clinodactyly of the 5th finger, Ectopic ossification in tendon tissue, Short 1st metacarpal, Meta... |
OMIM:135100 |
| Hypophosphatasia, Infantile |
|
Failure to thrive, Stillbirth, Widely patent fontanelles and sutures, Metaphyseal cupping, Bowing... |
OMIM:241500 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Tapered finger, Short finger |
OMIM:302000 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Cerebral atrophy, Flexion contracture, Small for gestational age, Partial agenesis of the corpus ... |
ORPHA:79243 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism |
ORPHA:242 |
| Fibrochondrogenesis 1 |
|
Wide anterior fontanel, Joint contracture of the hand, Thin ribs, Short ribs, Long clavicles, Thi... |
OMIM:228520 |
| Pituitary Adenoma 1, Multiple Types |
|
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... |
OMIM:102200 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Purpura, Pulmonary embolism, Cerebral hemorrhage |
OMIM:614514 |
| Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Overlapping toe, 2-3 toe syndactyly, Cerebral atrophy, Adducted thumb, Contracture of t... |
ORPHA:464738 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Sprengel anomaly, Abnormal vertebral segmentation and fusion, Sh... |
OMIM:118100 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Rib fusion, Dysplastic corpus callosum, Clinodactyly of the 5th finger, Tapered toe, Dilated thir... |
ORPHA:544488 |
| Lamb-Shaffer Syndrome |
|
Micrognathia, Scoliosis, Fused cervical vertebrae, Thoracic kyphosis, Hip dysplasia |
ORPHA:530983 |
| Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
| Immune Thrombocytopenia |
|
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... |
ORPHA:3002 |
| Miller-Dieker Syndrome |
|
Growth delay, Lissencephaly, Omphalocele |
ORPHA:531 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Widening of cervical spinal canal, Cervical vertebral bodies with decreased anteroposterior diame... |
OMIM:606842 |
| Macular Dystrophy, Dominant Cystoid |
|
Cystoid macular edema, Edema |
OMIM:153880 |
| 16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
| Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Double outlet right ventricle, Atrioventricular canal defect, Situs inversus totalis, Dextrocardi... |
OMIM:605376 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Narrow vertebral interpedicular distance, Short neck, Platyspondyly, S... |
ORPHA:93352 |
| Brachydactyly, Type B1 |
|
Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed... |
OMIM:113000 |
| Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae, Micrognathia, Hemihypotrophy of lower limb |
OMIM:108450 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Central adrenal insufficiency, Decreased fertility in males, Erectile dysfunction, Hyp... |
ORPHA:91349 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
| Brain Small Vessel Disease 3 |
|
Cerebral hemorrhage |
OMIM:618360 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormal rib morphology, Omphalocele, Abnormally ossified vertebrae |
ORPHA:3035 |
