| Thyroid Hormone Metabolism, Abnormal, 1 |
|
Increased circulating free T4 concentration, Short stature, Elevated circulating thyroid-stimulat... |
OMIM:609698 |
| Growth Hormone Insensitivity, Partial |
|
Decreased serum insulin-like growth factor 1, Short stature |
OMIM:604271 |
| Pituitary Hormone Deficiency, Combined, 4 |
|
Pituitary dwarfism, Short stature, Severe postnatal growth retardation, Adrenal insufficiency, Im... |
OMIM:262700 |
| Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Mild postnatal growth retardation, Delayed puberty |
OMIM:615961 |
| Pituitary Dwarfism With Large Sella Turcica |
|
Growth delay, Pituitary dwarfism, Hypothyroidism, Decreased response to growth hormone stimulatio... |
OMIM:262710 |
| Thyroid Hormone Metabolism, Abnormal, 3 |
|
Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre... |
OMIM:620198 |
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... |
OMIM:300123 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Hyperthyroxinemia, Familial Dysalbuminemic |
|
Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration |
OMIM:615999 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... |
OMIM:618573 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Thyroid Dyshormonogenesis 6 |
|
Hypothyroidism, Congenital hypothyroidism |
OMIM:607200 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism, Short stature |
OMIM:275120 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Short stature, Reduced circulating prolactin concent... |
OMIM:262600 |
| Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
| Precocious Puberty, Central, 1 |
|
Short stature, Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elev... |
OMIM:176400 |
| Wolfram-Like Syndrome |
|
Diabetes mellitus, Severe postnatal growth retardation, Primary gonadal insufficiency, Delayed pu... |
ORPHA:411590 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hypothyroidi... |
OMIM:275100 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... |
OMIM:620211 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Endometriosis, Susceptibility To, 1 |
|
Endometriosis |
OMIM:131200 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
| Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Pigmentary retinopathy, Hepatomegaly |
OMIM:609016 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal o... |
ORPHA:290 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Ventricular septal defect, Short stature, Dilated cardiomyop... |
ORPHA:2515 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Optic atrophy, Pleural effusion, Bradycardia, Intrauterine gr... |
OMIM:614702 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Hyperthyroxinemia, Dystransthyretinemic |
|
Euthyroid hyperthyroxinemia |
OMIM:145680 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Decreased response to growth hormone stimulation test, Short stature, Central... |
OMIM:616784 |
| Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
| Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
| Fetal Iodine Syndrome |
|
Hypothyroidism |
ORPHA:1910 |
| Congenital Atransferrinemia |
|
Hypothyroidism |
ORPHA:1195 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... |
OMIM:115197 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
| Mulibrey Nanism |
|
Hepatomegaly, Short stature, Corneal dystrophy, Cardiomegaly, Congestive heart failure, Hydrops f... |
OMIM:253250 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, T... |
ORPHA:858 |
| Athyreosis |
|
Thyroid agenesis, Growth delay, Hypothyroidism, Short stature |
ORPHA:95713 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Short stature, Anterior pituitary hypoplasia, Reduce... |
OMIM:613038 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Lymphedema, Patent ductus arteriosus, ... |
OMIM:239850 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Hydrops fetalis, C... |
ORPHA:2414 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Microcephaly, Left ventricular noncompaction, Cerebellar hypoplasia, Hypoplasia of the corpus cal... |
OMIM:615917 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Short stature, Postnatal growth retardation, Thyroi... |
OMIM:618985 |
| Thyroid Hormone Resistance, Selective Pituitary |
|
Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin... |
OMIM:145650 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Hypothyroidism |
OMIM:619647 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Short stature, Dilated cardiomyopathy, Flexion contracture, Ragged-red muscle fibers, Leukoenceph... |
OMIM:252011 |
| Bangstad Syndrome |
|
Short stature, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cort... |
ORPHA:1227 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Hypothyroidism, Short stature |
OMIM:618625 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Combined Oxidative Phosphorylation Deficiency 31 |
|
Microcephaly, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increase... |
OMIM:617228 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Pallor |
ORPHA:46532 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Camptodactyly of finger, Optic atro... |
ORPHA:1466 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
| Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula... |
OMIM:615925 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Hypogonadism, Growth delay, Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:3363 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Hemolytic anemia, ... |
OMIM:619487 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Ventricular septal defect, Pericardial effusion, Normo... |
OMIM:618775 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth retardation, Decre... |
ORPHA:453533 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uterus |
OMIM:615524 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,... |
OMIM:261740 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Postnatal growth ret... |
OMIM:616113 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Pigmentary reti... |
OMIM:618234 |
| Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2349 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Abnormal peritoneum morphology, Pleural effusion |
ORPHA:48686 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormal heart morph... |
ORPHA:1041 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Growth delay, Impaired sensitivity to thyroid hormone, Increased T3/T4 ratio, Congenital hypothyr... |
OMIM:614450 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
| Thyroid Dyshormonogenesis 1 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274400 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Short stature, Congenital hepat... |
ORPHA:3156 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Hyperthyroidism, Familial Gestational |
|
Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroidism |
OMIM:603373 |
| Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Cataract, Pericardial effusion, Opto-chiasmatic atrophy, Optic atrophy, ... |
OMIM:620089 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Oliver-Mcfarlane Syndrome |
|
Central heterochromia, Severe short stature, Pigmentary retinopathy, Distal amyotrophy, Delayed p... |
OMIM:275400 |
| Congenital Macroglossia |
|
Hypothyroidism |
ORPHA:2430 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Abnormal cardiac septum morphology... |
OMIM:608776 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1882 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Pericardial effusion, Hypersplenism, Splenomegaly, Thrombocytopenia, ... |
ORPHA:77259 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Sm... |
ORPHA:36412 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri... |
ORPHA:3208 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Myopathy, Abnormality of retinal pigmentation |
ORPHA:2579 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
OMIM:251270 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
| Coloboma Of Macula With Type B Brachydactyly |
|
Type B brachydactyly, Bifid distal phalanx of the thumb, Coloboma, Absent distal phalanges, Broad... |
OMIM:120400 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Short stature, Retinal pigment epithe... |
OMIM:618889 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Severe short stature, Hypothyroidism |
OMIM:619851 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Galloway-Mowat Syndrome 6 |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Intrauterine ... |
OMIM:618347 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Pigmentary retinopathy, ... |
ORPHA:228346 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism, Short stature |
ORPHA:589618 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macrocephaly, Congestive heart failure, Hydrocephalus, Cardiomegaly |
OMIM:300886 |
| Diprosopus |
|
Abnormality of retinal pigmentation, Abnormal cardiac septum morphology, Anencephaly |
ORPHA:1681 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
| Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
| Maternal Uniparental Disomy Of Chromosome 9 |
|
Intrauterine growth retardation, Congenital hypothyroidism |
ORPHA:96183 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Leber Congenital Amaurosis 1 |
|
Keratoconus, Hepatomegaly, Cataract, Fundus atrophy, Optic disc drusen, Growth delay, Pigmentary ... |
OMIM:204000 |
| Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Keratoconus, Cataract, Abnormal optic disc mo... |
ORPHA:65 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation, Anemia |
ORPHA:655 |
| Choanal Atresia And Lymphedema |
|
Pericardial effusion, Lymphedema |
OMIM:613611 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Pigme... |
OMIM:612582 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
| Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:613731 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology |
ORPHA:3411 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Pigmentary retinop... |
ORPHA:329336 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Potocki-Shaffer Syndrome |
|
Hypothyroidism, Delayed puberty |
ORPHA:52022 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
OMIM:241850 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Exercise-induced rhabdomyolysis, Hepatomegaly, Prolonged QT interv... |
ORPHA:26793 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2491 |
| Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Myopathy, Rod-cone dystrophy, Retinopathy, Retinal pigment epithelial mottling |
OMIM:551500 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... |
ORPHA:615 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Short stature, Adrenal hypoplasia, Hypothyroidism, Delayed puberty, ... |
ORPHA:95496 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Pericardial effusion |
OMIM:614684 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr... |
OMIM:613156 |
| Gne Myopathy |
|
Hypothyroidism |
ORPHA:602 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Li-Campeau Syndrome |
|
Hypothyroidism, Short stature |
OMIM:619189 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Pericardial effusion, Anemia, Prolonged QTc interval, Thrombocytopenia |
ORPHA:231111 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation, Corneal dystrophy |
ORPHA:16 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
| Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hydrocephalus, Congestive heart failure, Cerebral atrophy |
OMIM:269920 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Hypothyroidism, Short stature, Delayed puberty |
ORPHA:2994 |
| Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Hypothyroidism, Elevated circulating follicle stimulating hormone level,... |
OMIM:612885 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Abnormality of thyroid physiology |
OMIM:615542 |
| Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
| Thyroid Hypoplasia |
|
Growth delay, Hypothyroidism, Thyroid hypoplasia, Short stature |
ORPHA:95720 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
| Allan-Herndon-Dudley Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism |
OMIM:300523 |
| Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Abnormality of retinal pigmentation, Third deg... |
ORPHA:480 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Hawkinsinuria |
|
Hypothyroidism |
ORPHA:2118 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... |
OMIM:611040 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Polyhydramnios, Pericardial effusion, Multiple muscular ventricular septal defects... |
OMIM:620070 |
| Short Stature, Dauber-Argente Type |
|
Postnatal growth retardation, Fasting hyperinsulinemia, Short stature |
OMIM:619489 |
| Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... |
ORPHA:781 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Optic atrophy, Pigmentary retinopathy, Diffuse hepat... |
OMIM:264470 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Microcephaly, Pulmon... |
ORPHA:90308 |
| Pseudohypoparathyroidism, Type Ic |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyr... |
OMIM:612462 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Decreased muscle mass, Short stature, Keratoglo... |
OMIM:108145 |
| Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, ... |
ORPHA:185 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Refsum Disease |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Cataract, Heart block, Splenomegaly... |
ORPHA:773 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Growth delay, Pigmentary retinopathy |
OMIM:617613 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Abnormal heart valve morphology, ... |
OMIM:309900 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Umbilical hernia, Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Hypothyroidism |
OMIM:619927 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Moderately short stature, Central retinal vessel vascular to... |
ORPHA:506353 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Edema, Retinal pigment epithelial mottling, Chorioretinal... |
ORPHA:448237 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Short stature, Corneal erosio... |
ORPHA:816 |
| Chédiak-Higashi Syndrome |
|
Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ... |
ORPHA:167 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Short stature |
OMIM:619090 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Cataract, Megaloblastic anemia, Optic atrophy, Growth delay, Cardiomyopathy... |
OMIM:222300 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Cardiomyopathy, Hypo... |
ORPHA:1493 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretin... |
ORPHA:5 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cataract, Palpebral edema, Brushfield spots, Jaund... |
OMIM:214110 |
| Bamforth-Lazarus Syndrome |
|
Thyroid agenesis, Congenital hypothyroidism |
ORPHA:1226 |
| Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Microcephaly, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory... |
OMIM:619170 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Pediatric Systemic Lupus Erythematosus |
|
Myositis, Edema, Pericardial effusion, Raynaud phenomenon, Leukopenia, Ascites, Microangiopathic ... |
ORPHA:93552 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, C... |
OMIM:618280 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Nonimmune hydrops fetalis, Edema, Peri... |
OMIM:212065 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Growth delay, Ascites, Decreased proportion of ... |
ORPHA:90362 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Mild postnata... |
OMIM:235510 |
| Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Pigm... |
OMIM:619473 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
| Thyroid Lymphoma |
|
Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... |
ORPHA:90673 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Abnormal circulating renin, Increased c... |
OMIM:614736 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... |
ORPHA:57777 |
| Alkuraya-Kucinskas Syndrome |
|
Cataract, Edema, Pericardial effusion, Camptodactyly, Arthrogryposis multiplex congenita, Pleural... |
OMIM:617822 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Short stature, Coloboma, Clinodactyly, Iris coloboma, Brachydactyly |
OMIM:610023 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Leber Congenital Amaurosis 8 |
|
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... |
OMIM:613835 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Short stature, Short toe, Ulnar deviation of finger, Coloboma, Radioulnar synosto... |
ORPHA:921 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... |
ORPHA:95715 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Hemolytic anemia, Pancytopenia, Edema, Pericardial effusion, Splenomegaly, Thromboc... |
OMIM:615846 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypopituitarism, Hypothyroidism, Short stature |
OMIM:619013 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Gaucher Disease Type 3 |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Pericard... |
ORPHA:77261 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
| Hemoglobin D Disease |
|
Pallor |
ORPHA:90039 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
| Acute Interstitial Pneumonia |
|
Pericardial effusion, Hypertension, Peripheral edema, Reduced hematocrit, Pleural effusion |
ORPHA:79126 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... |
ORPHA:791 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
| X-Linked Sideroblastic Anemia |
|
Pallor |
ORPHA:75563 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Short stature, Hypohidrosis |
ORPHA:1563 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Pseudohypoparathyroidism, Type Ia |
|
Short stature, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogona... |
OMIM:103580 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar... |
OMIM:306955 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Growth delay, Delayed puberty, Intrauterine growth retardation, Hypothyroidism |
OMIM:616817 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
| Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating growth hormone ... |
OMIM:608747 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism |
ORPHA:88643 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Growth delay, Hypothyroidism |
OMIM:619908 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
| Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Arrhyt... |
ORPHA:96 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Secon... |
OMIM:618652 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus |
ORPHA:2143 |
| Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Intrauterine growth retardation, Hypothyroidism |
ORPHA:1923 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hypothyroidism, Short stature |
OMIM:618999 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Bicuspid aortic valve |
ORPHA:397951 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Rod-cone dystrophy, Abnormality of the liver, Cataract, Pigmentary retinopathy |
OMIM:614307 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Recurrent respiratory infections, Pulmonary edema, Atrial fibrillation, Left atrial... |
ORPHA:75249 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Abnormality of the l... |
ORPHA:44 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Pancreatic cysts, Thrombocyto... |
ORPHA:464329 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure... |
OMIM:235200 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Microcephaly, Cardiomegaly, ... |
OMIM:201475 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Intracerebral periventricular calcifications, Cerebellar vermis hypoplasia, Cerebra... |
ORPHA:228308 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Skeletal muscle atrophy, Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, O... |
OMIM:609033 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
| Poems Syndrome |
|
Papilledema, Edema, Pericardial effusion, Pulmonary arterial hypertension, Thrombocytosis, Pleura... |
ORPHA:2905 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Short stature, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreatic ins... |
OMIM:615952 |
| Ring Chromosome 14 Syndrome |
|
Growth delay, Pigmentary retinopathy |
OMIM:616606 |
| Narp Syndrome |
|
Optic disc pallor, Short stature, Retinal arteriolar tortuosity, Retinal pigment epithelial mottl... |
ORPHA:644 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Abnormal heart morphology, Pigmentary retinopathy, Retinal degene... |
ORPHA:79264 |
| Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Proportionate short stature, Severe postnatal growth retardation, Delayed pube... |
ORPHA:391408 |
| Potocki-Lupski Syndrome |
|
Hypothyroidism, Short stature |
OMIM:610883 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti... |
ORPHA:99827 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology, Telangiectasia of the ... |
ORPHA:3019 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Aymé-Gripp Syndrome |
|
Pericarditis, Cataract, Short stature, Congenital diaphragmatic hernia, Pericardial effusion, Pos... |
ORPHA:1272 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor |
OMIM:613561 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, S... |
ORPHA:746 |
| Abruzzo-Erickson Syndrome |
|
Coloboma, Radioulnar synostosis, Short stature |
OMIM:302905 |
| Seckel Syndrome 7 |
|
Intrauterine growth retardation, Severe short stature, Central hypothyroidism |
OMIM:614851 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:218700 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism |
OMIM:264300 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion |
ORPHA:411703 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Postnatal growth retardation, Short stature, Decreased response to growth hormone stimulation tes... |
OMIM:618160 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Short stature, Bone-marrow foam cells, Cardiomegaly, Splen... |
OMIM:256550 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Mucopolysaccharidosis Type 2 |
|
Abnormal tricuspid valve morphology, Retinal degeneration, Hepatomegaly, Papilledema, Short statu... |
ORPHA:580 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Thrombocytopenia, Pate... |
ORPHA:505248 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
| Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mild short stature, Intrauterine growth retardation, Diabetes mellitus, Congenital hypothyroidism |
OMIM:614613 |
| Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:614921 |
| Microphthalmia, Isolated 4 |
|
Coloboma, Postaxial polydactyly |
OMIM:613094 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... |
OMIM:609015 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Hypothyroidism, Short stature |
OMIM:607906 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Hypothyroidism |
ORPHA:663 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... |
OMIM:614473 |
| Ddost-Cdg |
|
Short stature, Primary hypothyroidism |
ORPHA:300536 |
| Retinitis Pigmentosa 2 |
|
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... |
OMIM:312600 |
| 4H Leukodystrophy |
|
Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to growth ho... |
ORPHA:289494 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature |
ORPHA:3085 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased circulating T4 concentration, Intrauterine growth retardation, Hypothyroidism |
OMIM:608104 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... |
OMIM:600059 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Pigmentary retinopathy, Neutropenia |
OMIM:266130 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cone/cone-rod dystrophy, Chronic active hepatitis, S... |
OMIM:203800 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Hypothyroidism, Short stature |
OMIM:619750 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy, Astigmatism |
OMIM:268060 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Upper limb muscle weakness, Pigmentary retinopathy, Distal amyotrophy, Retinal flecks, Yellow/whi... |
ORPHA:100996 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Septate vagina, Male pseudohermap... |
OMIM:608978 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Quadricuspid aortic valve, Bicornuate uterus, Mitral valve prolapse |
OMIM:606408 |
| Myhre Syndrome |
|
Cataract, Ventricular septal defect, Short stature, Pericardial effusion, Patent ductus arteriosu... |
OMIM:139210 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Hypothyroidism |
OMIM:613970 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Short stature, Abnormal fo... |
ORPHA:217085 |
| Kearns-Sayre Syndrome |
|
Sideroblastic anemia, Short stature, Ragged-red muscle fibers, Cardiomyopathy, Pigmentary retinop... |
OMIM:530000 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Cystinosis |
|
Short stature, Nephrogenic diabetes insipidus, Delayed puberty, Type I diabetes mellitus, Hypothy... |
ORPHA:213 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Cardiomegaly, Myopathy, Dis... |
ORPHA:42 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Double outlet right ventricle, Coloboma, Hypoplastic left ... |
OMIM:220210 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Stiff Person Spectrum Disorder |
|
Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:3198 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Short stature |
OMIM:600430 |
| Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Atrial septal defect, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, Ele... |
OMIM:614866 |
| Developmental And Epileptic Encephalopathy 90 |
|
Hypothyroidism |
OMIM:301058 |
| 14Q11.2 Microduplication Syndrome |
|
Hypothyroidism |
ORPHA:261229 |
| Thyroid Ectopia |
|
Short stature, Abnormality of the thyroid gland, Growth delay, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus |
OMIM:617805 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Short stature, Abnormal fo... |
ORPHA:217093 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Camptodactyly of finger... |
ORPHA:3380 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
| Isolated Atp Synthase Deficiency |
|
Hypogonadism, Hypothyroidism, Short stature |
ORPHA:254913 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Diabetes mellitus, Hypothyroidism, Abnormality of the thyroi... |
ORPHA:77296 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Macrovesicular hepatic st... |
OMIM:608836 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen... |
OMIM:301068 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cataract, Rhabdomyolysis, Hematochezia, Pigm... |
ORPHA:79095 |
| Ovarian Fibrothecoma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary, Abnormal endometrium morphology |
ORPHA:314478 |
| Pulmonary Capillary Hemangiomatosis |
|
Right ventricular failure, Pericardial effusion, Diffuse alveolar hemorrhage, Hemothorax, Pedal e... |
ORPHA:199241 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... |
OMIM:193220 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Abnormal cardiovascular system physiology, Myopath... |
ORPHA:886 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
| Acetazolamide-Responsive Myotonia |
|
Hypothyroidism |
ORPHA:99736 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito... |
OMIM:400045 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Female hypogonadism, Decreased circulating parathyroid hormone level, Decreas... |
OMIM:240300 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... |
OMIM:600462 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Mitral valve prolapse, Keratoconjunctivitis sicca, Astigmatism, Umbilical h... |
ORPHA:536532 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Palpebral edema, Iris coloboma, Ectopia lentis |
ORPHA:1259 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Short stature, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive hea... |
OMIM:208000 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Alg9-Cdg |
|
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Rhizomelia, Hypopl... |
ORPHA:79328 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Thyroidi... |
ORPHA:64744 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
| Biemond Syndrome Type 2 |
|
Coloboma, Preaxial polydactyly, Short stature, Delayed puberty |
ORPHA:141333 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Short stature, Decreased response to growth hormone... |
ORPHA:363528 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Relative macrocephaly, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:300967 |
| Monosomy 18P |
|
Hypothyroidism, Short stature |
ORPHA:1598 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypothyroidism, Hypogonadotropic hypogonadism |
ORPHA:752 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation... |
ORPHA:14 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Hypothyroidism, Short stature |
OMIM:617763 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Microcephaly, Cardiomegaly, Flexion contracture, Pleural effusion, Cer... |
OMIM:616897 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:619064 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Proportionate short ... |
ORPHA:71212 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Khan-Khan-Katsanis Syndrome |
|
Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Short stature, Peters an... |
OMIM:618460 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat... |
OMIM:617713 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Ventricular septal defect, Short st... |
ORPHA:193 |
| Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Growth delay, Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Optic atrophy, Skeletal muscle steatosis, Pigmentary retinopathy, Decreased liver f... |
ORPHA:436271 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:391372 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia |
OMIM:300843 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor |
ORPHA:49827 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypothyroidism |
ORPHA:397590 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Microcephaly, Postnatal growth retardation, Abnormal cardiac ventricle mor... |
ORPHA:2306 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Hematochezia, Coloboma, Anasarca, Pleural effusion, Ascites |
OMIM:618183 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Abnormal atrial arrangement, Atrial situs ambiguous, Peribron... |
ORPHA:244 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Short stature, Central hypothyroidism, Growth delay... |
ORPHA:1667 |
| Myelofibrosis |
|
Pallor, Purpura |
OMIM:254450 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
| Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Short stature, Decreased response to growth hormone stimulation test, Growth delay, Delayed puber... |
OMIM:619234 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Increased hepatocellular lipid droplets, Optic atrophy, Pigmentary retinopathy, Dec... |
OMIM:220110 |
| Evans Syndrome |
|
Pallor, Petechiae |
ORPHA:1959 |
| Late-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556037 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Splenomegaly, Flexion contracture, Optic a... |
ORPHA:581 |
| Atelis Syndrome 1 |
|
Hypothyroidism |
OMIM:620184 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypogonadism, Type II diabetes mellitus, Type I diabetes mellitus, Delayed menarche, Hypothyroidi... |
ORPHA:412057 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Facial hypotonia, Bull's eye ma... |
OMIM:216550 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism |
ORPHA:352530 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Macular coloboma, Megaloblastic anemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Sub... |
ORPHA:79282 |
| Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomeg... |
ORPHA:699 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism |
ORPHA:48377 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Hepatomegaly, Facial hypotonia, Cardio... |
ORPHA:308552 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Cardiomegaly, Postnatal growth retardation, Hypertension, Pulmonary arterial hyper... |
OMIM:613320 |
| Werner Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Cataract, Telangiectasia of the ski... |
ORPHA:902 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the liver, Short stature |
ORPHA:474 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Abnormal heart morphology |
OMIM:263210 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveolar hemorrhage, Heart... |
ORPHA:99931 |
| Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Proteus Syndrome |
|
Splenomegaly, Venous malformation, Macrocephaly |
OMIM:176920 |
| Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... |
OMIM:609152 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Cataract, Congenital diaphragmatic hernia, Sclerocor... |
OMIM:309801 |
| Mucolipidosis Type Iv |
|
Retinopathy, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the abdominal wall muscul... |
ORPHA:578 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
| Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Hypothyroidism, Decreased response to growth hormone stimulation... |
OMIM:609053 |
| Irida Syndrome |
|
Pallor |
ORPHA:209981 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Microcephaly, Cardiomegaly, Cerebral atrophy, Abnormal basal ganglia mo... |
ORPHA:391428 |
| Aceruloplasminemia |
|
Refractory anemia, Abnormality of retinal pigmentation, Torticollis, Congestive heart failure, Ab... |
ORPHA:48818 |
| Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Short stature, Precocious puberty, Insulin-resistant diabetes mellitus, ... |
ORPHA:769 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
| Nephrotic Syndrome, Type 1 |
|
Growth delay, Hypothyroidism |
OMIM:256300 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cerebellar hypoplasia, Recurrent pneumonia, Cerebral cortical atrophy, Cardiomegaly |
ORPHA:3137 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Pallor |
OMIM:615631 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Growth delay, Hypogonadism, Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis... |
ORPHA:300298 |
| Frontonasal Dysplasia 1 |
|
Postaxial hand polydactyly, Anterior basal encephalocele, Coloboma, Pectoral muscle hypoplasia/ap... |
OMIM:136760 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Cataract, Short stature, Optic atro... |
ORPHA:192 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
| Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mild postnatal growth retardation, Short stature, Elevated circulating thyroid-stimulating hormon... |
OMIM:101800 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Short stature, Optic atrophy, Melanocytic nevus, Hypertension |
ORPHA:2801 |
| Micro Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Optic atrophy, Microcornea, Retinal... |
ORPHA:2510 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Prolonged QT interval, Pericardial effusion, Raynaud phenomenon, Rhabdo... |
ORPHA:358 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Short stature, Sple... |
ORPHA:585 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Hypothyroidism, Short stature |
ORPHA:85321 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Early-Onset Familial Hypoaldosteronism |
|
Postnatal growth retardation, Abnormal circulating corticosterone level, Elevated serum 11-deoxyc... |
ORPHA:556030 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Distal Xq28 Microduplication Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:293939 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Ventricular septal defect, Anterior encephalocele, Coloboma, Foot oligodactyly |
OMIM:601357 |
| Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of retinal pigmentation, Rhizomelia, Heart block, Abnormality of the pa... |
ORPHA:175 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypothyroidism, Decreased response... |
ORPHA:96179 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Short stature, Retinal pigment epithe... |
OMIM:617547 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat... |
OMIM:232300 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splen... |
ORPHA:465508 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Optic disc pallor, Cataract, Ventricular septal de... |
OMIM:214100 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Cataract, Centrally nucleated skeletal muscle fibers, ... |
OMIM:607459 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy |
ORPHA:141 |
| Microform Holoprosencephaly |
|
Short stature, Maternal diabetes, Panhypopituitarism, Intrauterine growth retardation, Hypothyroi... |
ORPHA:280200 |
| Verheij Syndrome |
|
Branchial cyst, Truncus arteriosus, Ventricular septal defect, Short stature, Growth delay, Colob... |
OMIM:615583 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Short stature, Pigmentary retinopathy, Rod-cone dystrophy, Subcaps... |
OMIM:268020 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Cardiomegaly, Joint contracture of the 5th finger, Atrial septal defect, Pancreatic hypoplasia, H... |
OMIM:602782 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Juvenile cataract |
ORPHA:1264 |
| Refsum Disease, Classic |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness |
OMIM:266500 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Short stature, Delayed puberty |
ORPHA:819 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pulmonary arterial hypertension, Short stature, Pigmentary retinopathy |
OMIM:619059 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Coloboma, Intrauterin... |
OMIM:615665 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep... |
ORPHA:73224 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615108 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Sclerocornea, Vitritis, Abnormality of ... |
ORPHA:2556 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... |
ORPHA:2526 |
| Srd5A3-Cdg |
|
Hypothyroidism, Decreased response to growth hormone stimulation test |
ORPHA:324737 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Arterial dissection, Congestive heart failure, Recurrent pneumonia, Elbow ... |
ORPHA:1900 |
| Melas |
|
Wolff-Parkinson-White syndrome, Short stature, Cardiac conduction abnormality, Dilated cardiomyop... |
ORPHA:550 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test, Short ... |
OMIM:618922 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Rhizomelia, Decreased response to growth hormone stimulation test, Short stature, Growth delay, S... |
OMIM:614114 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... |
OMIM:615986 |
| Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus, Hypospadias |
ORPHA:2438 |
| Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Transient ischemic attack, Choroidal neovascularization, Edema, Cardiome... |
ORPHA:51608 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Teebi Hypertelorism Syndrome 1 |
|
Ventricular septal defect, Hydrocele testis, Bicornuate uterus, Shawl scrotum, Atrial septal defect |
OMIM:145420 |
| Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
| Hennekam Syndrome |
|
Mild postnatal growth retardation, Camptodactyly of finger, Lymphedema, Pericardial effusion, Spl... |
ORPHA:2136 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Type I diabetes mellitus, Hypothyroidism, Hashimoto thyroiditis, Short stature |
OMIM:613385 |
| Fanconi Anemia, Complementation Group D2 |
|
Short stature, Microcephaly, Hydrocephalus, Patent ductus arteriosus, Prolonged G2 phase of cell ... |
OMIM:227646 |
| Multifocal Atrial Tachycardia |
|
Hypothyroidism |
ORPHA:3282 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Hyperautofluorescent macula... |
OMIM:209900 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... |
OMIM:618173 |
| Prune Belly Syndrome |
|
Ventricular septal defect, Cryptorchidism, Abnormality of the uterus, Atrial septal defect, Tetra... |
ORPHA:2970 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98754 |
| Hb Bart'S Hydrops Fetalis |
|
Pallor |
ORPHA:163596 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Coloboma, Bicuspid aortic valve, Short stature |
OMIM:619318 |
| Jung Syndrome |
|
Hypothyroidism |
ORPHA:2321 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Lig4 Syndrome |
|
Growth delay, Hypothyroidism, Type II diabetes mellitus |
ORPHA:99812 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Short stature, Abnormality of the t... |
ORPHA:209905 |
| Primary Myelofibrosis |
|
Ecchymosis, Pallor, Petechiae, Purpura |
ORPHA:824 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cataract, Foot joint contracture, Hypermelanotic mac... |
ORPHA:90321 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Dextrocardia, Macular atrophy, ... |
OMIM:615994 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia |
OMIM:191830 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Facial hypotonia, Microcephaly, Cardiomegaly, Macrocephaly, Periventri... |
OMIM:618798 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:615109 |
| Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Diabetes mellitus, Mild postnatal growth retardation, Delayed puberty, Hypothyroidism, Exocrine p... |
ORPHA:456312 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:98793 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... |
OMIM:617304 |
| Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Hypoplasia of the uterus, Bic... |
OMIM:601186 |
| Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Cryptorchidism, ... |
OMIM:264480 |
| Omodysplasia 2 |
|
Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis |
OMIM:164745 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia, Optic nerve hypoplasia |
OMIM:617914 |
| Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency |
ORPHA:85445 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypogonadism, Diabetes mellitus, Hypothyroidism |
ORPHA:98673 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Short stature, Abnormal retinal vascular morpholog... |
ORPHA:2715 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Short stature, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, R... |
OMIM:300578 |
| Aicardi-Goutieres Syndrome 1 |
|
Short stature, Hypothyroidism, Diabetes insipidus |
OMIM:225750 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Primary hypothyroidism |
OMIM:225050 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio... |
ORPHA:177901 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Cataract, Flexion contracture of finger, Pigmentary reti... |
ORPHA:88628 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
OMIM:610978 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90037 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Lower limb muscle... |
ORPHA:365 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Pseudo-Torch Syndrome 3 |
|
Cerebral calcification, Cerebral hemorrhage, Cardiomegaly, Abnormal cerebral white matter morphol... |
OMIM:618886 |
| 19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Intrauterine growth retardation, Hypothyroidism |
ORPHA:254346 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Short stature, Disproportionate short-limb short stature, Intrauterine growth ... |
OMIM:616541 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R... |
ORPHA:85167 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin... |
ORPHA:466768 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Lentiglobus, Retinal arteriolar constriction, Re... |
ORPHA:191 |
| B4Galt1-Cdg |
|
Hypothyroidism |
ORPHA:79332 |
| Bardet-Biedl Syndrome |
|
Skeletal muscle atrophy, Short stature, Pigmentary retinopathy, Hypertension, Hepatic fibrosis |
ORPHA:110 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Pallor |
OMIM:611590 |
| Immunodeficiency 102 |
|
Hypothyroidism |
OMIM:301082 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Hypothyroidism, Short stature |
OMIM:618005 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pallor |
OMIM:613839 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Microcephaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Pulmonary hypoplasia,... |
OMIM:608013 |
| Chromosome 1P35 Deletion Syndrome |
|
Intrauterine growth retardation, Short stature, Congenital hypothyroidism |
OMIM:617930 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Tricuspid regurgitation, Rod-cone dystrophy |
OMIM:600151 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Diabetes mellitus, Short stature, Postnatal growth retardation, Delayed puberty, Hypothyroidism, ... |
OMIM:616263 |
| Reni Syndrome |
|
Hypogonadism, Hypothyroidism, Adrenal insufficiency |
OMIM:617575 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... |
ORPHA:90307 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Hypothyroidism |
OMIM:618829 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:2479 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Flexion contracture, Optic atrophy... |
OMIM:613154 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Cataract, Retinal detac... |
ORPHA:394 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of r... |
ORPHA:79432 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
| Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Cardiomegaly, Hepatosplenomegaly,... |
OMIM:268800 |
| Cold Agglutinin Disease |
|
Pallor |
ORPHA:56425 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus |
OMIM:600705 |
| Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Hepatomegaly, Umbilical hernia, Aortic regurgitation, Myelopathy, Recurrent pneumon... |
OMIM:252500 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Oculoskeletodental Syndrome |
|
Hypothyroidism, Short stature |
OMIM:618440 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Primary adrenal insufficiency, Thymoma, Type II diabetes mellitus, Hypothyroidis... |
OMIM:269200 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling, Cataract |
OMIM:614105 |
| Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Growth delay, Hypothyroidism |
OMIM:619147 |
| Retinitis Pigmentosa 37 |
|
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... |
OMIM:611131 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Hypertension, Palpit... |
ORPHA:91347 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Optic neuropathy, Pericardial effusion, Splenomegaly, Chorioretinitis... |
OMIM:181000 |
| Joubert Syndrome 16 |
|
Encephalocele, Coloboma, Polydactyly |
OMIM:614465 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Short stature, Intrauterine growth retardation |
ORPHA:2518 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
| Elliptocytosis 1 |
|
Pallor |
OMIM:611804 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Macrocephaly, Umbilical ... |
ORPHA:1517 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Coloboma, Macroglossia, Talipes equinovarus, Transposition of the great arteries, Clinodactyly, P... |
OMIM:616789 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
| Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... |
ORPHA:231226 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Pneumonia, Cardiomegaly, Patent ductus arteriosus, Partial anomalous p... |
ORPHA:95430 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Posterior embryotoxon, Cataract, Ventricular septal defect, Hepato... |
OMIM:118450 |
| Prader-Willi Syndrome |
|
Diabetes mellitus, Short stature, Decreased response to growth hormone stimulation test, Precocio... |
ORPHA:739 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... |
OMIM:126320 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor |
ORPHA:3226 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Intrauterine growth retardation, Pallor |
OMIM:266200 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Encephalomalacia, Abnormal cerebral vein morphology, V... |
ORPHA:60015 |
| Allan-Herndon-Dudley Syndrome |
|
Short stature, Abnormality of thyroid physiology |
ORPHA:59 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hypothyroidism |
OMIM:617796 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Thyroid adenoma, Hypothyroidism, Goiter |
OMIM:158350 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Pallor |
OMIM:615234 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Growth delay, Hypothyroidism |
OMIM:226300 |
| Omenn Syndrome |
|
Hypothyroidism, Thyroiditis |
ORPHA:39041 |
| Bone Marrow Failure Syndrome 6 |
|
Hypothyroidism |
OMIM:618849 |
| Leigh Syndrome |
|
Pigmentary retinopathy, Optic atrophy, Hepatocellular necrosis |
OMIM:256000 |
| Dilated Cardiomyopathy With Ataxia |
|
Growth delay, Intrauterine growth retardation, Hypothyroidism |
ORPHA:66634 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Pallor |
ORPHA:75564 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicuspid aortic valve, Septate vagina, Valvular pulmonary stenosis, Bicornuate uterus, Rectovagin... |
OMIM:300707 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Hypothyroidism |
ORPHA:445038 |
| Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Pulmonary h... |
OMIM:617022 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor |
OMIM:246450 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Short stature |
ORPHA:1173 |
| Adiposis Dolorosa |
|
Xerostomia, Hypothyroidism |
ORPHA:36397 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
| Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Facial hypotonia, Short stature, Cardiomegaly, Microcephaly, Bi... |
ORPHA:97297 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Diabetes mellitus, Hypothyroidism |
ORPHA:263297 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation |
ORPHA:873 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism |
ORPHA:449291 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Type I diabetes mellitus, Growth delay, Hypothyroidism, Thyroiditis |
OMIM:614700 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Lymphedema, Retinal hamartoma, Optic atrophy, Chylopericardium, Abno... |
ORPHA:538 |
| Secondary Short Bowel Syndrome |
|
Growth delay, Primary hypothyroidism, Central hypothyroidism |
ORPHA:95427 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy, Short stature |
OMIM:245800 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfu... |
OMIM:105210 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Short stature, Increased variability in muscle fiber diameter, Increased muscl... |
ORPHA:502423 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
| Koolen-De Vries Syndrome |
|
Hypothyroidism, Short stature |
ORPHA:96169 |
| Spondyloenchondrodysplasia |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature, Disproporti... |
ORPHA:1855 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Hypovolemic shock, Camptodactyly... |
ORPHA:158687 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Diabetes mellitus, Hypogonadism, Adrenal insufficiency, Hypothyroidism |
ORPHA:231222 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Increased hepatic g... |
OMIM:619259 |
| Fanconi Anemia, Complementation Group E |
|
Microcephaly, Short stature, Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:600901 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... |
OMIM:600132 |
| Marcus-Gunn Syndrome |
|
Postnatal growth retardation, Coloboma, Abnormal heart morphology |
ORPHA:91412 |
| Fanconi Anemia, Complementation Group C |
|
Ventricular septal defect, Short stature, Microcephaly, Flexion contracture, Prolonged G2 phase o... |
OMIM:227645 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Cockayne Syndrome A |
|
Hip contracture, Hepatomegaly, Cataract, Retinal atrophy, Short stature, Splenomegaly, Retinal pi... |
OMIM:216400 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
| Galloway-Mowat Syndrome 10 |
|
Congenital hypothyroidism |
OMIM:619609 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Calf muscle pseudohypertrophy, Short stature, Acanthocytosis, Abnormal erythrocyte morphology, Po... |
ORPHA:96180 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Optic disc pallor, Hepatomegaly, Pigmentary retinopathy, Prolonged neona... |
OMIM:612291 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Hypospadias, Endometriosis, Muscular ventricular septal defect, Abnormal heart morphology, Perime... |
ORPHA:363444 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
| Monosomy 18Q |
|
Short stature, Hypothyroidism, Growth delay, Slender build, Secondary growth hormone deficiency |
ORPHA:1600 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Fanconi Anemia, Complementation Group A |
|
Microcephaly, Short stature, Prolonged G2 phase of cell cycle, Abnormal heart morphology |
OMIM:227650 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hypothyroidism |
OMIM:304790 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent respiratory infections, Cor triatriatum, Prominent superficial veins, Mic... |
OMIM:612541 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Diabetes mellitus, Growth delay, Adrenal insufficiency, Delayed puberty, Hypo... |
ORPHA:231214 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Lig4 Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
OMIM:606593 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Endometriosis |
OMIM:613680 |
| Enhanced S-Cone Syndrome |
|
Cataract, Edema, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis |
OMIM:268100 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Pigmentary retinopathy, Dehydration, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Microvesicular hepatic steato... |
OMIM:300855 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Hypoplasia of the pons, Microcephaly, Ce... |
OMIM:618143 |
| Ring Chromosome 12 Syndrome |
|
Growth delay, Hypothyroidism |
ORPHA:1439 |
| Fryns Syndrome |
|
Aganglionic megacolon, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Bicornuat... |
ORPHA:2059 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Mitral atresia, Abnormal cardiac septum morphology, Bicornuate uterus, Labial hypoplasia, Clitora... |
ORPHA:140952 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Short stature, Melanocytic nevus, M... |
ORPHA:1969 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Cardiac conduction abnormality, Rod-cone dystrophy, Dilated cardiomyopathy, Ragged-... |
ORPHA:255210 |
| Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... |
ORPHA:79330 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
| American Trypanosomiasis |
|
Pallor |
ORPHA:3386 |
| Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
OMIM:606367 |
| Fragile X Tremor/Ataxia Syndrome |
|
Hypothyroidism |
OMIM:300623 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomegaly, Rhizomelia, ... |
OMIM:245600 |
| Neuhauser Syndrome |
|
Short stature, Primary hypothyroidism |
OMIM:249310 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Venous insufficiency, Splenomegaly, Hydrocephalus, Macrocephaly, Bro... |
ORPHA:2969 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Cerebral atrophy, Pulmonary hypoplasia, Limb... |
OMIM:620306 |
| Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
| Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cone/cone-rod dystrophy, Optic disc pallor, Limb joi... |
ORPHA:404454 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
| Familial Multiple Nevi Flammei |
|
Cerebral calcification, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteri... |
ORPHA:624 |
| Immunodeficiency 31C |
|
Diabetes mellitus, Short stature, Growth delay, Delayed puberty, Hypothyroidism |
OMIM:614162 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Pallor |
ORPHA:90033 |
| Martin-Probst Syndrome |
|
Hypothyroidism, Short stature |
OMIM:300519 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Stroke, Cho... |
OMIM:603903 |
| Foix-Alajouanine Syndrome |
|
Distal lower limb amyotrophy, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Distal lowe... |
ORPHA:79093 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
| Donnai-Barrow Syndrome |
|
Bicornuate uterus, Ventricular septal defect |
OMIM:222448 |
| Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Abnormality of the liver, Abnormal lung morphology |
ORPHA:33276 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Pagod Syndrome |
|
Situs inversus totalis, Optic atrophy, Agonadism, Hypoplastic left heart, Abnormality of the uter... |
ORPHA:991 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... |
OMIM:615233 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy, Elbow flexion contracture, Short stature, Intrauterine growth retardation |
OMIM:226960 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Short stature |
OMIM:617102 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis |
OMIM:140000 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation, Astigmatism, Short stature |
ORPHA:1824 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea, Growth delay, Pigmentary retinopathy, Camptodactyly |
OMIM:614230 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Short stature, Abnormal vena cava morphology, Heart murmur, Intrauteri... |
ORPHA:166035 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Cenani-Lenz Syndrome |
|
Hypothyroidism |
ORPHA:3258 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Short stature, Optic atroph... |
OMIM:268315 |
| Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Cerebral calcification, Multiple joint contractures, Sho... |
ORPHA:51 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
| Fucosidosis |
|
Hypothyroidism, Hyperhidrosis |
ORPHA:349 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cryptorchidism, Hepatosplenomegaly, Abnorm... |
ORPHA:1655 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Diabetes mellitus, Elevated circulating thyroid-stimulating hormone concentration, Congenital hyp... |
OMIM:610199 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Congestive heart failure, Arteriovenous malformation, Macrocephaly |
ORPHA:137608 |
| Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Growth delay, Intrauterine growth retardation, Short stature, Central hypothyroidism |
OMIM:300998 |
| Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
| Plummer-Vinson Syndrome |
|
Pallor |
ORPHA:54028 |
| Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Short stature, Cardiomegaly, Splenomegaly, Flexio... |
OMIM:230000 |
| Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Abnormality of retinal pigmentation, Telangiectasia of the skin, Short s... |
ORPHA:79474 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Decreased muscle mass, Thymus hyperplasia, Cataract, Central... |
ORPHA:744 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Cockayne Syndrome B |
|
Hepatomegaly, Severe short stature, Postnatal growth retardation, Splenomegaly, Optic atrophy, De... |
OMIM:133540 |
| Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypothyroidism |
ORPHA:505395 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Short stature, Rhabdomyosarcoma, Retina... |
OMIM:251260 |
| Down Syndrome |
|
Hypothyroidism, Type II diabetes mellitus |
ORPHA:870 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Xerostomia, Absence of pub... |
ORPHA:398079 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypothyroidism, Short stature |
OMIM:613673 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Patent ductu... |
ORPHA:96191 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Short stature, Precocious puberty,... |
ORPHA:398069 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
| Myopathy, Mitochondrial, And Ataxia |
|
Short stature, Growth delay, Pigmentary retinopathy, Distal amyotrophy, Increased variability in ... |
OMIM:617675 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Ab... |
ORPHA:99776 |
| Letterer-Siwe Disease |
|
Pallor |
OMIM:246400 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Prolidase Deficiency |
|
Splenomegaly, Hepatomegaly, White forelock, Abnormality of retinal pigmentation |
ORPHA:742 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Type I diabetes mellitus, Hypothyroidism, Thyroiditis |
ORPHA:228426 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal... |
ORPHA:2745 |
| Retinoblastoma |
|
Hypopyon, Abnormality of retinal pigmentation, Rhabdomyosarcoma, Subretinal pigment epithelium he... |
ORPHA:790 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypothyroidism, Hypohidrosis |
ORPHA:1812 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Pallor |
ORPHA:98870 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc... |
OMIM:619991 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Microvesic... |
OMIM:618278 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Severe short stature, Thyroid agenesis, Growth delay, Ectopic thyroid, Hypoth... |
ORPHA:3047 |
| Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor |
OMIM:619649 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| Hereditary Folate Malabsorption |
|
Pallor |
ORPHA:90045 |
| Lymphatic Malformation 6 |
|
Hypothyroidism, Short stature |
OMIM:616843 |
| 2Q31.1 Microdeletion Syndrome |
|
Abnormal tibia morphology, Coloboma, Short palm, Clinodactyly of the 5th finger, Atrial septal de... |
ORPHA:251014 |
| Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Hepatomegaly, Hypopigmentation of hair, Short stature, Splenomegaly, Ret... |
OMIM:219800 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, Sh... |
ORPHA:636 |
| Dysbetalipoproteinemia |
|
Acute pancreatitis, Diabetes mellitus, Hypothyroidism |
ORPHA:412 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Toe extensor amyotrophy, Bull's eye maculopathy, Acanthocytosis, Optic atrophy, Pigmentary retino... |
ORPHA:157850 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypothyroidism, Short stature |
OMIM:607944 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
| Schimke Immuno-Osseous Dysplasia |
|
Short stature, Abnormality of thyroid physiology, Disproportionate short-trunk short stature, Gro... |
ORPHA:1830 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| 46,Xx Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadal dysgenesis, Streak ovary, Aplasia/hypoplasia of the uterus |
ORPHA:243 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
| H Syndrome |
|
Short stature, Recurrent pharyngitis, Hydrocephalus, Abnormal cardiovascular system physiology, B... |
ORPHA:168569 |
| Sepsis In Premature Infants |
|
Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Homozygous Familial Hypercholesterolemia |
|
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... |
ORPHA:391665 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hypothyroidism |
OMIM:251900 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
ORPHA:216866 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Hypothyroidism, Premature thelarche, Premature pubarche |
OMIM:616878 |
| Tbck-Related Intellectual Disability Syndrome |
|
Central adrenal insufficiency, Hyperthyroidism, Hypothyroidism, Decreased response to growth horm... |
ORPHA:488632 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Short stature, Cardiomegaly, Pachygyria, Postnatal growth retardation,... |
ORPHA:3472 |
| Neuromuscular Oculoauditory Syndrome |
|
Chorioretinal lacunae, Retinal pigment epithelial mottling, Knee flexion contracture, Calf muscle... |
OMIM:618733 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific... |
ORPHA:2072 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Short stature, Optic atrophy, Pigmentary retinopathy, Freckling |
OMIM:610651 |
| Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Cortical dysplasia, Varicose veins, Hypoplasia of the brainstem, Cerebellar hy... |
OMIM:618343 |
| 22Q11.2 Deletion Syndrome |
|
Abnormal lung lobation, Abnormal aortic arch morphology, Atrial septal defect, Short stature, Spi... |
ORPHA:567 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:743 |
| Whipple Disease |
|
Hypothyroidism |
ORPHA:3452 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| Acro-Renal-Ocular Syndrome |
|
Coloboma, Chorioretinal coloboma, Triphalangeal thumb, Iris coloboma, Hypoplasia of the ulna, Fin... |
ORPHA:959 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Thyroiditis, Type I diabetes mellitus, Hypo... |
ORPHA:37042 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Limb joint contracture, Pigmentary retinopathy |
OMIM:617282 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Hypothyroidism |
ORPHA:98808 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Venous malformation |
ORPHA:75508 |
| Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, Angina pectoris, Catara... |
ORPHA:79318 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Postnatal growth retardation, Central hypothyroidism |
OMIM:300912 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve, Hypospadias, Partial an... |
OMIM:265380 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Beta-Ketothiolase Deficiency |
|
Pallor |
ORPHA:134 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Intrauterine growth retardation, Hypothyroidism |
ORPHA:453499 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Pallor |
OMIM:194380 |
| Waldenström Macroglobulinemia |
|
Pallor, Purpura |
ORPHA:33226 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Growth delay, Intrauterine growth retardation, Hypothyroidism, Short stature |
ORPHA:1052 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus |
ORPHA:3320 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Pallor |
ORPHA:331206 |
| Fanconi Anemia |
|
Aganglionic megacolon, Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, A... |
ORPHA:84 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascu... |
ORPHA:91500 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atrophy, Cardiomegaly, Su... |
ORPHA:2463 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Short stature, Increased circulating gonadotropin level, Delayed puberty, Decreased... |
ORPHA:1772 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Short stature |
ORPHA:2163 |
| Rothmund-Thomson Syndrome Type 1 |
|
Hypogonadism, Growth delay, Hypothyroidism, Short stature |
ORPHA:221008 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Diabetes mellitus, Hyperthyroidism, Hypothyroidism, Goiter |
ORPHA:254892 |
| Acute Monoblastic/Monocytic Leukemia |
|
Central hypothyroidism |
ORPHA:514 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Hypointensity of cerebral white matter on MRI, Ventricular sept... |
ORPHA:163956 |
| Alexander Disease |
|
Precocious puberty, Diabetes mellitus, Hypothyroidism, Hyperhidrosis |
ORPHA:58 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypothyroidism, Thyroiditis, Aplasia of the thymus |
ORPHA:83471 |
| Ohdo Syndrome, Sbbys Variant |
|
Hypothyroidism |
OMIM:603736 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe postnatal growth retardation, Hypothyroidism, Exocrine pancreatic insufficiency, Intrauter... |
OMIM:620005 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Thyroiditis, Growth delay, Delayed puberty, Hypothyroidism, Pancreatitis |
ORPHA:79259 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Microcephaly, Venous insufficiency, Aplasia/Hypoplasia of the abdomi... |
ORPHA:565 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Postnatal growth retardation, ... |
OMIM:620305 |
| Stüve-Wiedemann Syndrome |
|
Short stature, Hyperhidrosis, Hypohidrosis, Ectopic thyroid, Intrauterine growth retardation, Hyp... |
ORPHA:3206 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Pallor |
OMIM:300908 |
| Syndromic Diarrhea |
|
Hypothyroidism, Hypoplasia of the thymus, Short stature, Intrauterine growth retardation |
ORPHA:84064 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus |
OMIM:615866 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... |
OMIM:613843 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Micropenis, Tetralogy o... |
OMIM:617925 |
| Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Familial Multiple Lipomatosis |
|
Coloboma, Bowing of the long bones, Abnormal tricuspid valve morphology |
ORPHA:199276 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Abnormality of the uterus |
ORPHA:59315 |
| Trichohepatoneurodevelopmental Syndrome |
|
Recurrent pancreatitis, Hypothyroidism, Exocrine pancreatic insufficiency |
OMIM:618268 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Hypothyroidism |
OMIM:618569 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Short stature, Abnormality of the endocrine system, Thyroiditis, Growth delay, Primary hypothyroi... |
ORPHA:391487 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Pallor |
ORPHA:20 |
| Mccune-Albright Syndrome |
|
Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious puberty, Abnormali... |
ORPHA:562 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Pseudoxanthoma Elasticum |
|
Hypothyroidism |
ORPHA:758 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Hallermann-Streiff Syndrome |
|
Hypothyroidism, Proportionate short stature |
ORPHA:2108 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Abnormality of endocrine pancreas physiology, Diabet... |
ORPHA:93111 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Aplasia of the thymus, Short stature, Congenital hypothyroidism, Intrauterine growth retardation,... |
OMIM:620186 |
| Sheehan Syndrome |
|
Dry skin, Pallor |
ORPHA:91355 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Cutis Marmorata Telangiectatica Congenita |
|
Intrauterine growth retardation, Hypothyroidism |
ORPHA:1556 |
| Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... |
ORPHA:904 |
| Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Scapular winging, Cataract, Disproportionate short-trunk sho... |
OMIM:272460 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Waardenburg Syndrome |
|
Abnormal vagina morphology, Aganglionic megacolon, Abnormality of the uterus |
ORPHA:3440 |
| Renal Agenesis |
|
Absent vas deferens, Ventricular septal defect, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Familial Adenomatous Polyposis |
|
Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neoplasm of the adrenal gland, ... |
ORPHA:733 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Decreased response to growth hormone stimulation test, Precocious puberty, Postnat... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Slender build, Decreased response to growth hormone stimulation test, Precocious puberty, Postnat... |
ORPHA:363958 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism |
ORPHA:2519 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Pallor |
ORPHA:98849 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Varicose veins, Chylothorax, Arrhythmia, Tet... |
OMIM:153400 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hepatomegaly, Ambiguous genitalia, Small scrotum, Ventricular septal defect, Agang... |
OMIM:270400 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Short stature, Delayed puberty |
ORPHA:2235 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Fryns Syndrome |
|
Bifid scrotum, Aganglionic megacolon, Ventricular septal defect, Hypospadias, Cryptorchidism, Bic... |
OMIM:229850 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Hypospadias, Hypoplastic labia minora, Hypoplastic labia majora, Bicornuate uterus... |
OMIM:269150 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Growth delay, Overgrowth, Hypothyroidism, Hyperhidrosis |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Growth delay, Overgrowth, Hypothyroidism, Hyperhidrosis |
ORPHA:352665 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Cataract, Developmental cataract, Hypertension, Pigmentary retinopathy, ... |
OMIM:606721 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Short stature, Camptodactyl... |
OMIM:256040 |
| Leprechaunism |
|
Postnatal growth retardation, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Incre... |
ORPHA:508 |
| Isolated Biliary Atresia |
|
Hypopituitarism, Hypothyroidism |
ORPHA:30391 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... |
OMIM:600376 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short stature, Decreased response to growth hormone stimulation test, Premature thelarche, Abnorm... |
ORPHA:268261 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals |
OMIM:219900 |
| Retinitis Pigmentosa 74 |
|
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Fumarase Deficiency |
|
Pallor |
OMIM:606812 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Rhizomelia, Disproportionate short-limb short stature, Congenital hypothyroidism |
OMIM:271510 |
| Infantile Nephropathic Cystinosis |
|
Dehydration, Growth delay, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals |
ORPHA:411629 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Hypoplasia of the uterus |
OMIM:110100 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
| Incontinentia Pigmenti |
|
Erythema, Pallor |
OMIM:308300 |
| Thauvin-Robinet-Faivre Syndrome |
|
Transient neutropenia, Ventricular septal defect, Bowing of the legs, Mitral valve prolapse, Colo... |
OMIM:617107 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Clitoral hypoplasia, Hypoplastic labia majora, Hypoplasia of the uterus |
OMIM:618419 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Uterus didelphys |
OMIM:200980 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Corneal opacity, Camptodactyly of finger, Optic disc hypoplasia, Short stature, Congeni... |
ORPHA:3455 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Short stature, Abnormality of thyroid physiology |
OMIM:300968 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Leukoencephalopathy, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose ... |
OMIM:125310 |
| Microsporidiosis |
|
Myocarditis, Abnormal endometrium morphology, Endocarditis, Abnormal fallopian tube morphology, P... |
ORPHA:2552 |
| Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Decreased response to growth hormone stimulation test, Central diabetes insipidus,... |
ORPHA:293987 |
| Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... |
ORPHA:100991 |
| Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Hydrolethalus Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular canal defect, Abn... |
OMIM:236680 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism |
OMIM:615486 |
| Livedoid Vasculopathy |
|
Telangiectasia of the skin, Abnormal capillary morphology, Venous insufficiency, Hypertension, Va... |
ORPHA:542643 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Macroglossia... |
OMIM:130650 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aganglionic megacolon, Tetralogy of Fallot, Ventricular septal defect, Bicornuate uterus |
OMIM:154400 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypothyroidism |
ORPHA:93256 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Compensated hypothyroidism |
ORPHA:247691 |
| Juvenile Nephropathic Cystinosis |
|
Growth delay, Hypothyroidism |
ORPHA:411634 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Venous malformation, Spinal dysraphism |
OMIM:612918 |
| Ulnar-Mammary Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Ventricular septal defect, Abnormality of the uterus |
ORPHA:3138 |
| Tuberous Sclerosis 1 |
|
Precocious puberty, Hypothyroidism |
OMIM:191100 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Pallor |
OMIM:557000 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Palmoplantar hyperhidrosis, Congenital hypothyroidism |
OMIM:617527 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Short stature |
ORPHA:444077 |
| Milroy Disease |
|
Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Abnormality of the uterus |
ORPHA:2470 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Compensated hypothyroidism |
ORPHA:480864 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor |
ORPHA:329971 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pigmentary retinopathy, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:277400 |
| Down Syndrome |
|
Hypothyroidism, Short stature |
OMIM:190685 |
| Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology |
ORPHA:563 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Ventricular septal defect |
OMIM:123700 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
| Myasthenia Gravis |
|
Hyperthyroidism, Abnormal thymus morphology, Primary adrenal insufficiency, Hashimoto thyroiditis |
ORPHA:589 |
| Fraser Syndrome 1 |
|
Hypospadias, Cryptorchidism, Abnormal heart morphology, Bicornuate uterus, Micropenis, Vaginal at... |
OMIM:219000 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Hypothyroidism |
ORPHA:457212 |
| Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
| Diamond-Blackfan Anemia 1 |
|
Intrauterine growth retardation, Spina bifida occulta, Pallor |
OMIM:105650 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
| Ramon Syndrome |
|
Optic disc pallor, Short stature, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly |
OMIM:266270 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
| Digeorge Syndrome |
|
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Parathyroid... |
OMIM:188400 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension |
OMIM:263400 |
| Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
| Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:93924 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Abnorma... |
ORPHA:220386 |
| Scleromyxedema |
|
Abnormality of thyroid physiology |
ORPHA:167635 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Acanthocytosis, Optic atrophy, Myopathy, Pigmentary retinopathy, Retinal d... |
OMIM:234200 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Telangiectasia, Mitral valve prolapse, Hematochezia, Mitral regurgitation, Hepatic art... |
OMIM:175050 |
| Tuberous Sclerosis 2 |
|
Precocious puberty, Hypothyroidism |
OMIM:613254 |
| White-Kernohan Syndrome |
|
Hypothyroidism |
OMIM:619426 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Diastasis recti, Congenital diaphragmatic hernia, Cardiomegaly, Rhabdomyosarcoma, S... |
ORPHA:116 |
| Bilateral Polymicrogyria |
|
Central hypothyroidism |
ORPHA:268940 |
| Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pallor |
ORPHA:3260 |
| Ulnar-Mammary Syndrome |
|
Small scrotum, Ventricular septal defect, Bicornuate uterus, Shawl scrotum, Micropenis, Imperfora... |
OMIM:181450 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Hypothyroidism, Decreased response to growth hormone stimulation... |
ORPHA:506358 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
| Lymphedema-Distichiasis Syndrome |
|
Varicose veins, Patent ductus arteriosus, Arrhythmia, Abnormality of the pulmonary vasculature |
ORPHA:33001 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Growth delay, Congenital hypothyroidism |
OMIM:616973 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus, Ambiguous gen... |
ORPHA:2052 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
| Cerebrotendinous Xanthomatosis |
|
Hypothyroidism |
ORPHA:909 |
| Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Thyroid carcinoma |
ORPHA:276399 |
| Degcags Syndrome |
|
Intrauterine growth retardation, Pallor |
OMIM:619488 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Short stature, Abnormality of the endocrine system, Precocious puberty, Abnormality of the anteri... |
ORPHA:438213 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Microphthalmia, Syndromic 2 |
|
Hypothyroidism, Short stature, Adrenal insufficiency |
OMIM:300166 |
| 1P36 Deletion Syndrome |
|
Hypothyroidism, Hypogonadism, Short stature |
ORPHA:1606 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
| Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Short stature, Cardiomegaly, Aortic... |
OMIM:182250 |
| Sponastrime Dysplasia |
|
Rhizomelia, Precocious puberty, Disproportionate short-limb short stature, Intrauterine growth re... |
ORPHA:93357 |
| Peters Plus Syndrome |
|
Hypospadias, Cryptorchidism, Bicuspid pulmonary valve, Optic atrophy, Hypoplasia of the uterus, C... |
ORPHA:709 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad... |
ORPHA:2232 |
| Coffin-Siris Syndrome 12 |
|
Hypothyroidism, Short stature |
OMIM:619325 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor |
ORPHA:544482 |
| Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Ventricular septal defect, Mitral atresia, Cryptorchidism, Muscular v... |
OMIM:619503 |
| Charge Syndrome |
|
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:214800 |
| Thymic Carcinoma |
|
Abnormal vena cava morphology |
ORPHA:99868 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... |
ORPHA:71273 |
| Diamond-Blackfan Anemia |
|
Pallor |
ORPHA:124 |
| Acrocardiofacial Syndrome |
|
Intrauterine growth retardation, Hyperthyroidism |
ORPHA:2008 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology, Telangiectasia of the skin, En... |
ORPHA:276280 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Hepatosplenomegaly, Aplasia of the uterus, Atrial septal defect, Atrio... |
OMIM:274000 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Congenital hypothyroidism, Intrauterine growth reta... |
ORPHA:2255 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pallor |
ORPHA:667 |
| Von Hippel-Lindau Disease |
|
Pallor |
ORPHA:892 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Growth delay, Hypothyroidism, Congenital hypothyroidism |
OMIM:607872 |
| Kabuki Syndrome 1 |
|
Short stature, Premature thelarche, Postnatal growth retardation, Congenital hypothyroidism, Grow... |
OMIM:147920 |
| Thymic Neuroendocrine Tumor |
|
Abnormal vena cava morphology, Pancreatic islet cell adenoma, Prominent veins on trunk |
ORPHA:97289 |
| Microphthalmia With Limb Anomalies |
|
Venous insufficiency, Hydrocephalus, Camptodactyly of 2nd-5th fingers, Short stature |
ORPHA:1106 |
| Johanson-Blizzard Syndrome |
|
Diabetes mellitus, Short stature, Severe intrauterine growth retardation, Primary hypothyroidism,... |
OMIM:243800 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Williams-Beuren Syndrome |
|
Diabetes mellitus, Short stature, Early onset of sexual maturation, Intrauterine growth retardati... |
OMIM:194050 |
| Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Splenomegaly, Cryptorchidism, Ambiguous genitalia, female, Abnormal ... |
OMIM:249000 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Thoracic Outlet Syndrome |
|
Varicose veins |
ORPHA:97330 |
| Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Peripheral arteriovenous fistula, Short stature, Varicose veins, Ascending t... |
ORPHA:286 |
| Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplasia of t... |
OMIM:261540 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ... |
ORPHA:857 |
| Sarcoidosis |
|
Hyperthyroidism, Diabetes insipidus, Abnormality of the adrenal glands, Hypothyroidism, Parotitis |
ORPHA:797 |
| Liposarcoma |
|
Varicose veins |
ORPHA:69078 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Ring Chromosome 13 Syndrome |
|
Growth delay, Primary hypothyroidism |
ORPHA:96176 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Varicose veins, Torticollis |
OMIM:314300 |
| Primrose Syndrome |
|
Diabetes mellitus, Short stature, Hypergonadotropic hypogonadism, Delayed puberty, Hypothyroidism |
OMIM:259050 |
| Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transien... |
ORPHA:2929 |
| Roberts-Sc Phocomelia Syndrome |
|
Ventricular septal defect, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Bicorn... |
OMIM:268300 |
| Cowden Syndrome |
|
Enlarged polycystic ovaries, Endometrial carcinoma, Abnormality of the uterus, Abnormal penis mor... |
ORPHA:201 |
| Occipital Horn Syndrome |
|
Cerebral calcification, Venous insufficiency, Jaundice, Hepatitis, Cholestasis, Vascular dilatation |
ORPHA:198 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Varicose Veins |
|
Varicose veins |
OMIM:192200 |
| Microphthalmia, Syndromic 6 |
|
Female hypogonadism, Adrenal hypoplasia, Anterior hypopituitarism, Abnormality of the hypothalamu... |
OMIM:607932 |
| Schinzel-Giedion Syndrome |
|
Streak ovary, Central hypothyroidism |
ORPHA:798 |
| Meige Disease |
|
Varicose veins, Pleural effusion |
ORPHA:90186 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Cervical insufficiency, Mitral valve prolapse, Tricuspid valve prolapse,... |
ORPHA:287 |
| Viss Syndrome |
|
Hypothyroidism, Short stature |
OMIM:619472 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Bicornuate uterus |
ORPHA:2363 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Uterine prolapse, Pulmonic stenosis, Abnormal heart morphology |
ORPHA:284984 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Ambiguous genitalia |
ORPHA:93271 |
| Clapo Syndrome |
|
Varicose veins, Venous malformation |
ORPHA:168984 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ascending tubular aor... |
ORPHA:285 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
| Wolf-Hirschhorn Syndrome |
|
Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Aplasia of the uterus... |
OMIM:194190 |
| Pallister-Hall Syndrome |
|
Ambiguous genitalia, Small scrotum, Ventricular septal defect, Hypospadias, Precocious puberty, C... |
ORPHA:672 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia ma... |
ORPHA:199 |
| Sotos Syndrome |
|
Hypothyroidism, Tall stature |
ORPHA:821 |
| Doors Syndrome |
|
Adrenal hyperplasia, Congenital hypothyroidism |
ORPHA:79500 |
| Genitopatellar Syndrome |
|
Hypothyroidism |
OMIM:606170 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Aprosencephaly And Cerebellar Dysgenesis |
|
Aprosencephaly |
OMIM:601374 |
| Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Venous malformation |
ORPHA:83454 |
| Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Coffin-Lowry Syndrome |
|
Uterine prolapse |
OMIM:303600 |
| Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:601803 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
