| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Basal Ganglia Calcification, Idiopathic, 4 |
|
Depression, Bipolar affective disorder, Attention deficit hyperactivity disorder, Dementia |
OMIM:615007 |
| Familial Alzheimer-Like Prion Disease |
|
Emotional lability, Cognitive impairment, Anxiety, Attention deficit hyperactivity disorder, Defi... |
ORPHA:280397 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Autism, Susceptibility To, X-Linked 4 |
|
Attention deficit hyperactivity disorder, Aggressive behavior, Impulsivity |
OMIM:300830 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Severe Primary Trimethylaminuria |
|
Emotional lability, Anxiety, Low self esteem, Depression, Negative affectivity, Aggressive behavior |
ORPHA:468726 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Large for gestational age, Hypogonadism, Macular hypopigmentation, Rod-cone dystrophy... |
OMIM:617119 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Bardet-Biedl Syndrome 11 |
|
Retinopathy, Hypogonadism, Obesity |
OMIM:615988 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... |
OMIM:615990 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea, Obesity |
OMIM:614962 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Childhood-onset truncal obesity, Increased adipose tissue, Obesity |
ORPHA:71529 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
| Glycogen Storage Disease Vi |
|
Failure to thrive in infancy, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, ... |
OMIM:232700 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
| Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
| Bardet-Biedl Syndrome 10 |
|
Retinal dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615987 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity |
OMIM:619031 |
| Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
| Bardet-Biedl Syndrome 9 |
|
Polyphagia, Truncal obesity, Retinal degeneration, Irregular menstruation, Polydipsia, Bone spicu... |
OMIM:615986 |
| Bardet-Biedl Syndrome 5 |
|
Micropenis, External genital hypoplasia, Hypogonadism, Macular dystrophy, Rod-cone dystrophy, Obe... |
OMIM:615983 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Aggressive behavior, Hyperactivity |
OMIM:615493 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Aggressive behavior, Hyperactivity |
ORPHA:356996 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Acholic stools, Elevated... |
OMIM:619868 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
| Hyperleucine-Isoleucinemia |
|
Retinal degeneration, Failure to thrive |
OMIM:238340 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Tall stature, Obesity |
OMIM:618406 |
| Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Hyposmia, Focal T2 hyperintense thalamic lesion, Head tremor, Intention tremor, Impa... |
OMIM:613724 |
| Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Obesity |
OMIM:620195 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... |
ORPHA:59181 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy |
OMIM:136550 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Polyphagia, Failure to thrive, Increased adipose tissue, Childhood-onset truncal obesity, Obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Polyphagia, Failure to thrive, Increased adipose tissue, Childhood-onset truncal obesity, Obesity |
ORPHA:71526 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
| Obsessive-Compulsive Disorder |
|
Anxiety, Depression, Skin-picking |
OMIM:164230 |
| Macular Dystrophy, Patterned, 3 |
|
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization |
OMIM:617111 |
| Cone-Rod Dystrophy 7 |
|
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:603649 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
| Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
| Smith-Magenis syndrome |
|
Self-mutilation, Hyperactivity |
DECIPHER:8 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Lipoatrophy, Polycystic ovaries, Hepatic fibrosis, H... |
ORPHA:280356 |
| Bardet-Biedl Syndrome 19 |
|
Hyposmia, Rod-cone dystrophy, Obesity |
OMIM:615996 |
| Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating creatine kin... |
OMIM:610717 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions, Elevated hepatic transaminase, Hyperinsulinemia, Hyperglycemia, Hyp... |
ORPHA:329249 |
| Retinal Dystrophy And Obesity |
|
Peripapillary atrophy, Obesity, Retinal detachment, Retinal dots, Attenuation of retinal blood ve... |
OMIM:616188 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating... |
OMIM:617872 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
| Macular Dystrophy, Retinal, 2 |
|
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... |
OMIM:608051 |
| Bardet-Biedl Syndrome 18 |
|
Obesity, Rod-cone dystrophy, Retinal dystrophy |
OMIM:615995 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Gilles De La Tourette Syndrome |
|
Self-mutilation, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:137580 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Chondrocalcinosis, Hypophosphatemia, Pancreatitis, Renal insufficiency, Hypermagnesemia, Hypocalc... |
OMIM:600740 |
| Pyruvate Carboxylase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Apathy, Hyperalaninemia, Hepatomegaly, Elevated plasma citrull... |
ORPHA:3008 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Hepatic steatosis, Mildly elevated c... |
OMIM:618400 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Jaundice, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Cholestasis... |
OMIM:620010 |
| Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity |
ORPHA:177910 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... |
ORPHA:79299 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism, Retinal degeneration, Rod-cone dystrop... |
OMIM:615982 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Lipodystrophy, Generalized lipodystrophy, Diabetes mellitus, Hepatomegaly, Sp... |
OMIM:612526 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Polyphagia, Obesity |
OMIM:613886 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Retinal detachment, Hypertriglyceridemia, Hepatic steatosis, Insul... |
ORPHA:436182 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... |
ORPHA:529970 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Increased... |
ORPHA:26792 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Cholestatic liver disease, Copper ac... |
OMIM:616828 |
| Stargardt Disease 3 |
|
Macular atrophy, Macular dystrophy, Macular flecks |
OMIM:600110 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Small for gestational age, Excess... |
ORPHA:324575 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Elevated hepatic transaminase, Elevated circulating alka... |
OMIM:616829 |
| Edinburgh Malformation Syndrome |
|
Jaundice, Hydrocephalus, Death in infancy, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Growth Hormone Insensitivity Syndrome |
|
Hypogonadism, Diabetes mellitus, Diabetes insipidus, Truncal obesity, Failure to thrive, Hypoplas... |
ORPHA:181393 |
| Galactokinase Deficiency |
|
Hepatosplenomegaly, Small for gestational age, Hypergalactosemia, Increased level of galactitol i... |
ORPHA:79237 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Stage 5 chronic kidney disease, Chronic kidney disease, Abnormality of se... |
ORPHA:94059 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
| Autism, Susceptibility To, X-Linked 6 |
|
Underdeveloped nasal alae, Obesity |
OMIM:300872 |
| Neuroleptic Malignant Syndrome |
|
Proteinuria, Acute kidney injury, Hyperuricemia, Urinary incontinence, Anxiety, Hyperphosphatemia... |
ORPHA:94093 |
| Morm Syndrome |
|
Hyperactivity, Micropenis, Retinal atrophy, Truncal obesity, Retinal dystrophy |
ORPHA:75858 |
| Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... |
OMIM:618889 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Hereditary Fructose Intolerance |
|
Jaundice, Hypophosphatemia, Hyperuricemia, Chronic kidney disease, Reduced circulating aldolase c... |
ORPHA:469 |
| Dystonia 11, Myoclonic |
|
Agoraphobia, Alcoholism, Anxiety, Panic attack, Depression |
OMIM:159900 |
| Malaria |
|
Hyperbilirubinemia, Retinopathy, Acute kidney injury, Elevated circulating C-reactive protein con... |
ORPHA:673 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Macular Dystrophy, Vitelliform, 2 |
|
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration |
OMIM:153700 |
| Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Hypogonadism, Retinal degeneration, Rod-cone dystrophy, Obesity |
OMIM:615993 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hyperammonemia, Hypoargininemia, Hyperglutaminemia, Hyperalaninemia, Abnormal urine seb... |
OMIM:615751 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, P... |
OMIM:608709 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Cone-Rod Dystrophy 22 |
|
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... |
OMIM:619531 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia, Obesity |
OMIM:608320 |
| Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Adipose tissue loss, Diabetes mellitus, Precocious puberty in females, Polycystic ... |
ORPHA:528 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Anosmia, Hyposmia, Obesity |
OMIM:617885 |
| Bothnia Retinal Dystrophy |
|
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... |
ORPHA:85128 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Megacystis, Diabetes insipidus, Polyuria, Irritability, Failure to thrive, Hypernatremia |
OMIM:304800 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitin... |
ORPHA:71212 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Nephrogenic diabetes insipidus, Irritability, Failure to thrive, Polyuria |
OMIM:125800 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Hyperuricemia, Pol... |
OMIM:604367 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:180210 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Hyposmia, Obesity |
OMIM:610628 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Micropenis, Hypogonadism, Hypoplasia of penis, Obesity |
ORPHA:85274 |
| Rotor Syndrome |
|
Jaundice, Intermittent jaundice, Porphyrinuria, Conjugated hyperbilirubinemia, Hyperbilirubinemia... |
ORPHA:3111 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Leptin Receptor Deficiency |
|
Polyphagia, Abnormal eating behavior, Hypergonadotropic hypogonadism, Obesity |
OMIM:614963 |
| Alstrom Syndrome |
|
Chronic active hepatitis, Cone/cone-rod dystrophy, Pigmentary retinopathy, Truncal obesity, Hepat... |
OMIM:203800 |
| Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Hypercholesterolemia, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
| Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
| Gitelman Syndrome |
|
Maternal diabetes, Delayed puberty, Decreased urinary potassium, Hypokalemia, Renal potassium was... |
ORPHA:358 |
| Hartnup Disorder |
|
Emotional lability, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:234500 |
| Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy |
OMIM:609923 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Elevated circulating aspartate aminotransferase con... |
OMIM:619874 |
| Oliver-Mcfarlane Syndrome |
|
Small for gestational age, Cryptorchidism, Pigmentary retinopathy, Hypoplasia of penis, Retinal d... |
OMIM:275400 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Low-set ears, Very long chain fatty acid accumulation, Bilateral senso... |
OMIM:264470 |
| Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Hypogonadism, Retinal degeneration, Rod-cone dystrophy, Obesity |
OMIM:615981 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Large for gestational age, Excessive insulin response to glucagon test, Inc... |
ORPHA:276575 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Abdominal mass, Hypogonadism, Hydrometrocolpos, Hydroureter, Vaginal atresia, Cys... |
OMIM:615989 |
| Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619386 |
| Bardet-Biedl Syndrome 17 |
|
Macular atrophy, Cone/cone-rod dystrophy, Hyposmia, Retinal degeneration, Bone spicule pigmentati... |
OMIM:615994 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Large for gestational age, Excessive insulin response to... |
ORPHA:276580 |
| Smith-Magenis Syndrome |
|
Head-banging, Abnormal renal morphology, Self-mutilation, Abnormality of the thyroid gland, Retin... |
OMIM:182290 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Anosmia For Butyl Mercaptan |
|
Anosmia |
OMIM:270350 |
| Anosmia, Isolated Congenital, X-Linked |
|
Anosmia |
OMIM:301700 |
| Anosmia, Isolated Congenital |
|
Anosmia |
OMIM:107200 |
| Isovaleric Acid, Inability To Smell |
|
Anosmia |
OMIM:243450 |
| Cholesteryl Ester Storage Disease |
|
Reduced lysosomal acid lipase activity, Low alkaline phosphatase, Hepatomegaly, Elevated gamma-gl... |
OMIM:278000 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
| Carcinoma Of Esophagus |
|
Dysphagia, Weight loss, Obesity |
ORPHA:70482 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Jaundice, 3-hydroxydicarboxylic aciduria, Elevated circulating alanine ami... |
OMIM:613070 |
| Hernández-Aguirre Negrete Syndrome |
|
Bulbous nose, Obesity |
ORPHA:2139 |
| Spermatogenic Failure 30 |
|
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Retinitis pigmentosa inversa, Rod-cone dystrophy, External genital hypoplasia |
OMIM:268010 |
| Chronic Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Se... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Prolonged neonatal jaundice, Abnormal auditory evoked potentials, Neonatal hyperbilirubinemia, Se... |
ORPHA:529799 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Chondrocalcinosis, Pancreatitis, Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-in... |
OMIM:145981 |
| Retinitis Pigmentosa |
|
Conductive hearing impairment, Hypogonadism, Abnormal retinal vascular morphology, Hyperinsulinem... |
ORPHA:791 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
| Wagner Vitreoretinopathy |
|
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... |
OMIM:143200 |
| Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
| Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
| Pearson Syndrome |
|
Diabetes mellitus, Hypoparathyroidism, Pigmentary retinopathy, Hyperalaninemia, Hepatomegaly, Hyp... |
ORPHA:699 |
| Mody |
|
Neonatal hypoglycemia, Abnormality of the kidney, Transient neonatal diabetes mellitus, Hyperinsu... |
ORPHA:552 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Renal insufficiency, Hepatomegaly, Elevated hepatic transaminase, Increased total bilir... |
ORPHA:890 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Prolonged neonatal jaundice, Hearing impairm... |
ORPHA:79234 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperthreoninemia, Conjugated hyperbilirubinemia, Elevated circulating alkaline phosphatase conce... |
OMIM:605814 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Paresthesia, Hypohidrosis, Urinary incontinence, Impaired proprioception, Hyposmia, Pain insensit... |
OMIM:243000 |
| Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Cholestasis, Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine... |
ORPHA:247598 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Jaundice, Renal cyst, Cholestasis, Steatorrhea, Hepatomegaly, Prolonged neonatal jaundice, Conjug... |
ORPHA:79303 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hypertriglyceri... |
OMIM:614480 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Mental deterioration, Anxiety, Attention deficit hyperactivity disorder, Depression |
OMIM:619191 |
| Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... |
ORPHA:435660 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Delayed puberty, Cholestasis, Hepatomegaly, Elevated circulating creatine kinase concentration, S... |
ORPHA:370 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia, Decreased body weight, Failure to thrive |
OMIM:620085 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Diabetes mellitus, Pigmentary retinopathy, Hepatomegaly, Hypokalemia, Reduced bl... |
OMIM:219800 |
| Leber Congenital Amaurosis 1 |
|
Eye poking, Pigmentary retinopathy, Hyperthreoninemia, Hepatomegaly, Fundus atrophy, Hyperthreoni... |
OMIM:204000 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
| Retinal Cone Dystrophy 1 |
|
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:180020 |
| Webb-Dattani Syndrome |
|
Hydronephrosis, Cryptorchidism, Neurogenic bladder, Diabetes insipidus, Decreased response to gro... |
OMIM:615926 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Attention deficit hyperactivity disorder, Obesity |
ORPHA:369873 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... |
OMIM:620211 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
| Citrullinemia Type Ii |
|
Hepatocellular carcinoma, Hypoproteinemia, Enuresis, Decreased body mass index, Acute hyperammone... |
ORPHA:247585 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Elevated circulating creatine kinase concentration |
OMIM:617613 |
| Central Areolar Choroidal Dystrophy |
|
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... |
ORPHA:75377 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Abnormality of the sense of smell |
OMIM:146110 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Emotional lability, Hypoplasia of the ovary, Decreased testicular size, Obesity, Hyperinsulinemia... |
ORPHA:179494 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Temple Syndrome |
|
Polyphagia, Small for gestational age, Cryptorchidism, Obesity, Precocious puberty |
ORPHA:254516 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Enlarged kidney, Hepatomegaly, Elevated circulating creatine kinase ... |
OMIM:608836 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Elevated circulating phytanic acid concentration, Increased circulating very long-chain fatty aci... |
OMIM:614307 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Hyperinsulinemia, Enlarged peripheral nerve, Acute pancreatitis, Increased facial a... |
OMIM:151660 |
| Infantile Sialic Acid Storage Disease |
|
Death in childhood, Hydrocephalus, Hepatomegaly, Nephrotic syndrome, Conjugated hyperbilirubinemi... |
OMIM:269920 |
| Cone-Rod Dystrophy 11 |
|
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy |
OMIM:610381 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Increased urine succinate level, Decreased plasma free carnitine, Elevated circulating aspartate ... |
OMIM:619048 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Hepatomegaly, Elevated hepatic transaminase |
OMIM:606664 |
| Retinitis Pigmentosa 11 |
|
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Generalized lipodystrophy, Hepatomegaly, Cirrhosis, Hyperinsulinemia, Hypertriglyceridemia, Reduc... |
ORPHA:363400 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia,... |
ORPHA:35710 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hepatocellular carcinoma, Abnormal renal physiology, Abnormal circulating int... |
ORPHA:158057 |
| Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Neonatal insu... |
ORPHA:1667 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Delayed puberty, Cholestasis, Hepatomegaly, Elevated circulating creatine kinase concentration, I... |
ORPHA:264580 |
| Central Diabetes Insipidus |
|
Diabetes insipidus, Anxiety, Failure to thrive, Nocturia, Depression, Hyponatremia, Weight loss |
ORPHA:178029 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Abnormality of the sense of smell, Choanal atresia |
ORPHA:1135 |
| Isolated Polycystic Liver Disease |
|
Multiple renal cysts, Hepatomegaly, Increased total bilirubin, Abnormality of the pancreas, Polyc... |
ORPHA:2924 |
| Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Overweight, Retinal atrophy, Cone/cone-rod dystrophy, Hyperautofluoresce... |
OMIM:617406 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Jaundice, Cholestatic liver disease, Proteinuria, Nephrocalcinosis, Glycosuria, Low-set ears, Nep... |
OMIM:613404 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hydrocephalus, Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Failure to thr... |
OMIM:620157 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Hyperuricemia, Chronic kidney disease, Diabetes mellitus, Increased blood urea nitro... |
OMIM:613845 |
| Bardet-Biedl Syndrome 7 |
|
Depressed nasal bridge, Rod-cone dystrophy, Obesity |
OMIM:615984 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hydroureter, Functional abnormality of the bladder, Nephrogenic diabetes insip... |
ORPHA:223 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Reactive hypoglycemia, Incre... |
ORPHA:276556 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Lipodystrophy, Diabetes mellitus, Elevated circulating ... |
OMIM:615980 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Reduced circulating growth hormone concentration, Increased circulating IgE level, Failure to thr... |
OMIM:615508 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Polyphagia, Obesity |
OMIM:616521 |
| Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Jaundice, Small for gestational age, Hyperammonemia, Elevated circulating asparta... |
OMIM:617093 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Hyperlysinemia, Type I |
|
Cognitive impairment, Hyperactivity |
OMIM:238700 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Proteinuria, Increased body weight, Glycosuria, Panc... |
ORPHA:263455 |
| Familial Drusen |
|
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... |
ORPHA:75376 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... |
ORPHA:3085 |
| Schaaf-Yang Syndrome |
|
Polyphagia, Camptodactyly, Cryptorchidism, Arthrogryposis multiplex congenita, Micropenis, Hypogo... |
OMIM:615547 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Increased circulating renin level, Nephrocalcino... |
OMIM:601198 |
| Alg8-Cdg |
|
Small for gestational age, Low-set ears, Camptodactyly, Abnormality of subcutaneous fat tissue, E... |
ORPHA:79325 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301033 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatocellular carcinoma, Delayed puberty, Proteinuria, Abnormality of the kidney, Hepatic fibros... |
ORPHA:369 |
| Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Anxiety, Attention deficit hyperactivity disorder |
OMIM:618878 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Decreased circulating aldosterone level, Increased circulating... |
OMIM:610600 |
| Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... |
OMIM:600059 |
| Hypotonia-Cystinuria Syndrome |
|
Polyphagia, Failure to thrive |
ORPHA:163690 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis, Hypermagnesemia, Hypercalciuria, Hypocalciuria, Nephrolithiasi... |
OMIM:145980 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Neonatal hypoglycemia, Premature adrenarche,... |
ORPHA:90791 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity, Micropenis, Retinal dystrophy |
OMIM:610156 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Underdeveloped nasal alae, Bone spicule pigmentation of the retina, Attenuation of retinal blood ... |
OMIM:616108 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Porphyria Variegata |
|
Hepatocellular carcinoma, Inappropriate antidiuretic hormone secretion, Abnormal circulating porp... |
ORPHA:79473 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased body weight,... |
ORPHA:2298 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... |
OMIM:606762 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity |
OMIM:605899 |
| Cockayne Syndrome Type 1 |
|
Proteinuria, Cryptorchidism, Absent brainstem auditory responses, Hypermelanotic macule, Pigmenta... |
ORPHA:90321 |
| Temple Syndrome |
|
Small for gestational age, Cryptorchidism, Overweight, Decreased testicular size, Hydrocephalus, ... |
OMIM:616222 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Renal cyst, Increased total bilirubin, Elevated circulating alkaline phosphatase concentration, P... |
OMIM:174050 |
| Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... |
ORPHA:556030 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, Hepatomegaly, ... |
OMIM:261680 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Abnormal circulating corticosterone level, Decreased circulati... |
ORPHA:556037 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Interstitial Nephritis, Karyomegalic |
|
Renal interstitial fibrosis, Proteinuria, Renal tubular cyst, Stage 5 chronic kidney disease, Gly... |
OMIM:614817 |
| Cog4-Cdg |
|
Hepatosplenomegaly, Fatal liver failure in infancy, Failure to thrive in infancy, Elevated hepati... |
ORPHA:263501 |
| Cortisone Reductase Deficiency 1 |
|
Oligomenorrhea, Infertility, Precocious puberty, Obesity |
OMIM:604931 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Pigmentary retinopathy, Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Polycystic kidney dysplasia, Cholestasis, Pigmentary retinopathy, Hepatomegaly, Conjugated hyperb... |
OMIM:614866 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Hepatomegaly, Irritability, I... |
OMIM:267700 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hernia of the abdominal wall, Hypoplasia of penis, Aplasia/Hypoplasia of the test... |
ORPHA:3055 |
| Cystic Echinococcosis |
|
Abnormality of the peritoneum, Jaundice, Cholestatic liver disease, Biliary tract obstruction, Re... |
ORPHA:400 |
| Huntington Disease |
|
Abnormal libido, Polyphagia, Decreased body mass index, Agitation, Disinhibition, Alcoholism, Ora... |
ORPHA:399 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Obesity |
ORPHA:411515 |
| Aicardi-Goutieres Syndrome 9 |
|
Self-mutilation, Hepatomegaly, Acute pancreatitis, Hypothyroidism, Hepatosplenomegaly, Recurrent ... |
OMIM:619487 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypergalactosemia, Hepatomegaly, Hypokalemia, Renal tubular dysfunction, Elevated c... |
OMIM:227810 |
| Cholesteryl Ester Storage Disease |
|
Jaundice, Adrenal calcification, Hepatomegaly, Cirrhosis, Splenomegaly, Hypertriglyceridemia, Hep... |
ORPHA:75234 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Anosmia, Hyposmia, Bifid nose |
OMIM:614838 |
| Xq27.3Q28 Duplication Syndrome |
|
Premature ovarian insufficiency, Cryptorchidism, Decreased testicular size, Hypogonadism, Truncal... |
ORPHA:261483 |
| Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Impaired glucose tolerance, Diabetes mellitus, Hepatomegaly, Cir... |
OMIM:606069 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Elevated hepatic transaminase, Conjug... |
OMIM:214900 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Anosmia, Short nose, Short nasal septum, Depressed nasal bridge |
OMIM:302950 |
| Macular Degeneration, Age-Related, 1 |
|
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... |
OMIM:603075 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Abnormal circulating insulin concentration, Abnormal circulating selenium c... |
ORPHA:171706 |
| Nephronophthisis 15 |
|
Retinal degeneration, Obesity |
OMIM:614845 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hypertriglyceridemia, H... |
OMIM:306000 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Cholestasis, Elevated circulating alanine aminotransferase concentration, Hypermethioninemia, Ele... |
OMIM:614300 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Hyperbilirubinemia, Incr... |
OMIM:616278 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Hepatomegaly, Elevated hepatic transaminase, Irrit... |
OMIM:603553 |
| Isochromosomy Yp |
|
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia |
ORPHA:98797 |
| Smith-Magenis Syndrome |
|
Delayed puberty, Chronic otitis media, Conductive hearing impairment, Obesity, Failure to thrive ... |
ORPHA:819 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Nephrocalcinosis, Conjugated hyperbilirubinemia, Hearing impairment, Giant cell hepatitis, Elevat... |
OMIM:208085 |
| Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
| Retinitis Pigmentosa 73 |
|
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... |
OMIM:616544 |
| Peroxisome Biogenesis Disorder 9B |
|
Anosmia, Rod-cone dystrophy, Total anosmia |
OMIM:614879 |
| Squalene Synthase Deficiency |
|
Low-set ears, Decreased LDL cholesterol concentration, Failure to thrive in infancy, Posteriorly ... |
OMIM:618156 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulati... |
OMIM:255120 |
| Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Impaired social interactions, Precocious puberty, Recurrent otitis media, Maturity-onset diabetes... |
ORPHA:254531 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Death in childhood, Renal cyst, Steatorrhea, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Failure t... |
OMIM:602579 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Hydrocephalus, Optic disc pallor, Hepatomegaly, Hepatic failure, Undetectable... |
OMIM:259720 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... |
OMIM:614736 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Elevated ci... |
OMIM:618528 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia |
OMIM:614858 |
| East Syndrome |
|
Enuresis, Hyperaldosteronism, Increased circulating renin level, Renal magnesium wasting, Abnorma... |
ORPHA:199343 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hyperammonemia, Distal arthrogryposis, Hepatomegaly, Elevated hepatic transaminase, Elevated circ... |
ORPHA:42 |
| Pandas |
|
Emotional lability, Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Attentio... |
ORPHA:66624 |
| Hyperbilirubinemia, Rotor Type |
|
Jaundice, Abnormality of skin pigmentation, Conjugated hyperbilirubinemia |
OMIM:237450 |
| Dubin-Johnson Syndrome |
|
Biliary tract abnormality, Jaundice, Conjugated hyperbilirubinemia |
OMIM:237500 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers, Decreased m... |
OMIM:607250 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| RCAD (renal cysts and diabetes) |
|
Diabetes mellitus, Multiple renal cysts, Abnormality of the liver |
DECIPHER:47 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... |
OMIM:619256 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Rod-cone dystrophy, Cryptorchidism, External genital hypoplasia, Hypogonadism, Retinal coloboma, ... |
ORPHA:363741 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... |
ORPHA:289548 |
| Hardikar Syndrome |
|
Cholestasis, Hydroureter, Pigmentary retinopathy, Hepatomegaly, Prolonged neonatal jaundice, Decr... |
OMIM:301068 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Death in childhood, Hepatomegaly, Proximal tubulopathy, Hypothyroidism, Rod-cone dystrophy, Prote... |
OMIM:212065 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Elevated hepatic tr... |
OMIM:251880 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Neonatal hypoglycemia, Hypernatriuria, Elevated circulating follicle stimulating... |
ORPHA:168558 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Aggressive behavior, Hyperactivity, Agitation |
OMIM:309548 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615985 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... |
ORPHA:98798 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Obesity, Hyperinsulinemia, Hypergonadotropic ... |
ORPHA:66628 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the thyroid gland, Hyperuricemia, Suicidal ideation, Diabetes mellitus, Abnormalit... |
ORPHA:77296 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Polycystic ovaries, Hep... |
ORPHA:435651 |
| Hyperostosis Cranialis Interna |
|
Anosmia, Optic atrophy, Hyposmia, Facial palsy |
OMIM:144755 |
| Usher Syndrome, Type Iv |
|
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... |
OMIM:618144 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Fused labia minora, Low-set ears, Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarbo... |
OMIM:608688 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Fasting hypoglycemia, Hepatocellular carcinoma, Hypercholesterolemia, Hepatocellular adenoma, Ren... |
ORPHA:79240 |
| 11P15.4 Microduplication Syndrome |
|
Obesity, Anteverted nares |
ORPHA:300305 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Decreased ... |
ORPHA:79085 |
| Fraxe Intellectual Disability |
|
Aggressive behavior, Hyperactivity, Impulsivity, Agitation |
ORPHA:100973 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Anosmia |
OMIM:612370 |
| Retinitis Pigmentosa 38 |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy |
OMIM:613862 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity |
ORPHA:171829 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Proteinuria, Enlarged kidney, Abnormal retinal morphology on macular OCT, Macros... |
ORPHA:251004 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Jaundice, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alp... |
OMIM:619662 |
| Lipoyltransferase 1 Deficiency |
|
Hyperglutaminuria, Hyperglutaminemia, Elevated hepatic transaminase, Death in infancy, Increased ... |
OMIM:616299 |
| Helix Syndrome |
|
Hyperparathyroidism, Renal insufficiency, Hypermagnesemia, Hypokalemia, Hypocalciuria, Nephrolith... |
OMIM:617671 |
