| Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Short attention span, Hyperactivity |
DECIPHER:19 |
| Autism, Susceptibility To, X-Linked 4 |
|
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior |
OMIM:300830 |
| Familial Alzheimer-Like Prion Disease |
|
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... |
ORPHA:280397 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Short attention span, Hyperactivity |
OMIM:608443 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... |
OMIM:137580 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder, Compulsive behaviors |
OMIM:618830 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Macular hypopigmentation, Hypogonadism, Rod-cone dystrophy, P... |
OMIM:617119 |
| Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Bardet-Biedl Syndrome 11 |
|
Retinopathy, Hypogonadism, Obesity |
OMIM:615988 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Leptin Deficiency Or Dysfunction |
|
Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Polyphagia, Decreased testicular size |
OMIM:614962 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Obesity, Attenuation of retinal bloo... |
OMIM:615990 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Polyphagia, Obesity, Childhood-onset truncal obesity, Increased adipose tissue |
ORPHA:71529 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Bardet-Biedl Syndrome 10 |
|
Rod-cone dystrophy, Retinal dystrophy, Hypogonadism, Obesity |
OMIM:615987 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Irregular menstruation, Obesity, Truncal obesity, Polydi... |
OMIM:615986 |
| Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Obesity, Hypogonadism, Macular dystrophy, Micropenis, Rod-cone dystr... |
OMIM:615983 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Hyperleucine-Isoleucinemia |
|
Failure to thrive, Retinal degeneration |
OMIM:238340 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Azoospermia, Focal T2 hyperintense thalamic lesion, He... |
OMIM:613724 |
| Obesity And Hypopigmentation |
|
Overgrowth, Polyphagia, Obesity |
OMIM:620195 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy |
OMIM:136550 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensori... |
OMIM:617872 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hyposmia |
OMIM:615266 |
| Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
| Macular Dystrophy, Patterned, 3 |
|
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy |
OMIM:617111 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Oligo... |
OMIM:615703 |
| Cone-Rod Dystrophy 7 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy |
OMIM:603649 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior, Truncal obesity, Micropenis |
ORPHA:75858 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Im... |
ORPHA:329249 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Obesity, Retinal dots,... |
OMIM:616188 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:610717 |
| Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal d... |
OMIM:615982 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Failure to thrive, H... |
ORPHA:3008 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
| Bardet-Biedl Syndrome 18 |
|
Rod-cone dystrophy, Retinal dystrophy, Obesity |
OMIM:615995 |
| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Peripheral axonal neuropathy, Decreased distal sensory nerve actio... |
OMIM:618400 |
| Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Obesity |
OMIM:615991 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
| Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
| Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Hyposmia |
OMIM:615271 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Lipod... |
OMIM:612526 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal in... |
ORPHA:436182 |
| Doyne Honeycomb Retinal Dystrophy |
|
Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:126600 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Optic atrophy, Ethylmalon... |
ORPHA:26792 |
| Hyperlysinemia, Type I |
|
Short attention span, Hyperactivity, Cognitive impairment |
OMIM:238700 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
| Leptin Receptor Deficiency |
|
Hypergonadotropic hypogonadism, Abnormal eating behavior, Aggressive behavior, Obesity, Polyphagia |
OMIM:614963 |
| Stargardt Disease 3 |
|
Macular dystrophy, Macular atrophy, Macular flecks |
OMIM:600110 |
| Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H... |
ORPHA:79237 |
| Edinburgh Malformation Syndrome |
|
Death in infancy, Hydrocephalus, Jaundice, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Obesity, Hyposmia, Decreased testicular size |
OMIM:610628 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity, Underdeveloped nasal alae |
OMIM:300872 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu... |
ORPHA:276575 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypogly... |
ORPHA:276580 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglyce... |
ORPHA:469 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polyuria, Megacystis, Irritability, Hypernatremia, Polydipsia, Failure to thrive, Diabetes insipidus |
OMIM:304800 |
| Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polyuria, Nephrogenic diabetes insipidus, Megacystis, Irritability, Hypernatremia, Polydipsia, Fa... |
OMIM:125800 |
| Malaria |
|
Retinopathy, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein con... |
ORPHA:673 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnorm... |
OMIM:182290 |
| Macular Dystrophy, Vitelliform, 2 |
|
Macular dystrophy, Cystoid macular degeneration, Subretinal fluid |
OMIM:153700 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co... |
ORPHA:94093 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Abnormal urine sebacic acid conc... |
OMIM:615751 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:619386 |
| Cone-Rod Dystrophy 22 |
|
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... |
OMIM:619531 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
| Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615993 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... |
OMIM:608709 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in femal... |
ORPHA:528 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyposmia, Anosmia, Obesity |
OMIM:617885 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Small for gestational age, Hypogonadotropic hypogonadism, Cryptorchidism, Pi... |
OMIM:275400 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Central hypothyroidism, Decreased circu... |
OMIM:301033 |
| Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Bilirubinuria, Conjugated hyperbilirubinem... |
ORPHA:3111 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
| Retinitis Pigmentosa 31 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:609923 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop... |
OMIM:264470 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity |
OMIM:309585 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Abdominal mass, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vag... |
OMIM:615989 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Abnormality of the sense of smell |
OMIM:146110 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:247585 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Anosmia, Obesi... |
OMIM:615994 |
| Bardet-Biedl Syndrome 2 |
|
External genital hypoplasia, Obesity, Hypogonadism, Rod-cone dystrophy, Retinal degeneration |
OMIM:615981 |
| Bardet-Biedl Syndrome 19 |
|
Hyposmia, Rod-cone dystrophy, Obesity, Cone/cone-rod dystrophy |
OMIM:615996 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Failure to thrive, Anorexia, Nephrogenic diabetes insipidus, Fu... |
ORPHA:223 |
| Ring Chromosome Y Syndrome |
|
Male infertility, Bifid scrotum, Ambiguous genitalia, Streak ovary, Unilateral cryptorchidism, Hy... |
ORPHA:261529 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... |
ORPHA:3055 |
| Hartnup Disorder |
|
Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Anosmia For Isobutyric Acid |
|
Partial anosmia |
OMIM:207000 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Hepatic fi... |
OMIM:278000 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ... |
ORPHA:276556 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Attention deficit hyperactivity disorder |
OMIM:617028 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| 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 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri... |
OMIM:219800 |
| Temple Syndrome |
|
Small for gestational age, Precocious puberty, Cryptorchidism, Obesity, Polyphagia |
ORPHA:254516 |
| Hernández-Aguirre Negrete Syndrome |
|
Bulbous nose, Obesity |
ORPHA:2139 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Retinitis Pigmentosa Inversa With Deafness |
|
Rod-cone dystrophy, Retinitis pigmentosa inversa, External genital hypoplasia |
OMIM:268010 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypoalbuminemia, Prolonged... |
ORPHA:529808 |
| Thumb Agenesis, Short Stature, And Immunodeficiency |
|
Anosmia |
OMIM:274190 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... |
OMIM:143200 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Mody |
|
Large for gestational age, Transient neonatal diabetes mellitus, Renal cyst, Glucose intolerance,... |
ORPHA:552 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
| Atrophia Maculosa Varioliformis Cutis, Familial |
|
Macular atrophy |
OMIM:601341 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| 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 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Anhidrosis, Pain insensitivity, Urinary incontinence, Impaired temperature sensation, Impaired pr... |
OMIM:243000 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight... |
ORPHA:890 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
| Musk, Inability To Smell |
|
Anosmia |
OMIM:254150 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Large for gestational age, Abnormal cir... |
ORPHA:263455 |
| Peripheral Cone Dystrophy |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration |
OMIM:609021 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Failure to thrive,... |
ORPHA:79303 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Retinitis Pigmentosa |
|
Abnormality of retinal pigmentation, Hypoplasia of penis, Abnormal retinal vascular morphology, S... |
ORPHA:791 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Alg12-Cdg |
|
Abnormal peripheral nervous system morphology, Recurrent hypoglycemia, Hypoalbuminemia, Hypochole... |
ORPHA:79324 |
| Huntington Disease |
|
Abnormal libido, Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol u... |
ORPHA:399 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Obesity |
OMIM:300577 |
| Macular Dystrophy, Retinal, 3 |
|
Macular drusen, Retinal pigment epithelial atrophy |
OMIM:608850 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating phytanic acid concentration, Depression, Pig... |
OMIM:614307 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona... |
OMIM:615547 |
| Retinal Cone Dystrophy 1 |
|
Cone/cone-rod dystrophy, Bull's eye maculopathy, Retinal degeneration |
OMIM:180020 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy, Elevated circulating creatine kinase concentration |
OMIM:617613 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614858 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
| Cone-Rod Dystrophy 11 |
|
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy |
OMIM:610381 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Conjugated hyperbilirubinemia, Splenome... |
OMIM:269920 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Increased... |
OMIM:608836 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Hypoalbuminemia, Hypernatremia, Failure to thrive, Reduced circu... |
OMIM:615508 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H... |
ORPHA:35710 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
| Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Depression, Polydipsia, Failure to thrive, Diabetes insipidu... |
ORPHA:178029 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... |
ORPHA:264580 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Elevated circulating C-reactive protein conc... |
ORPHA:158057 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated circulating aspartate amino... |
OMIM:619048 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insuffici... |
ORPHA:1667 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, Choanal atresia, Abnormality of the sense of smell |
ORPHA:1135 |
| Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
| East Syndrome |
|
Peripheral axonal neuropathy, Salt craving, Renal salt wasting, Renal magnesium wasting, Sensorin... |
ORPHA:199343 |
| Bardet-Biedl Syndrome 21 |
|
Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal atrophy, Retinal thinning, Overweight, ... |
OMIM:617406 |
| Bardet-Biedl Syndrome 7 |
|
Rod-cone dystrophy, Depressed nasal bridge, Obesity |
OMIM:615984 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron... |
OMIM:613845 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts, Increa... |
ORPHA:2924 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia, Hydrocephalus, ... |
OMIM:620157 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Aural Atresia, Congenital |
|
Hyposmia |
OMIM:607842 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran... |
OMIM:617093 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Hypopigmentation of the skin, Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kin... |
OMIM:615980 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Death in infancy, Proteinuria,... |
OMIM:613404 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... |
ORPHA:369 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability |
OMIM:605899 |
| Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Small for gestational age, Abnormality of subcutaneo... |
ORPHA:79325 |
| Apnea, Obstructive Sleep |
|
Anosmia |
OMIM:107650 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... |
ORPHA:90791 |
| Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Fundus atrophy, Sensorineural hearing impairment, Optic disc drusen, Pigmentary ret... |
OMIM:204000 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hyposmia, Anosmia, Bifid nose, Decreased testicular size |
OMIM:614838 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Retinal dystrophy, Childhood-onset truncal obesity |
OMIM:610156 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, U... |
OMIM:616108 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineura... |
ORPHA:3085 |
| Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Increased circulating IgG l... |
ORPHA:2298 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556030 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size |
ORPHA:261483 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556037 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... |
ORPHA:171706 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Renal cyst, Elevated circulating alkaline phosphatase concentration, As... |
OMIM:174050 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Absent brainstem auditory respo... |
ORPHA:90321 |
| Interstitial Nephritis, Karyomegalic |
|
Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminot... |
OMIM:261680 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Posteriorly rotated ears, Maturity-onset diabete... |
OMIM:616222 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Pigmentary retinopathy |
OMIM:609016 |
| Fanconi-Bickel Syndrome |
|
Elevated gamma-glutamyltransferase level, Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouric... |
OMIM:227810 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Self-mutilation... |
OMIM:619487 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Elevated gamma-glutamyltransferase level, Intrahepatic... |
OMIM:614866 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Cryptorchidism, Obesity, Retinal coloboma, Hypogonadism, Rod-cone dy... |
ORPHA:363741 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Anosmia |
OMIM:615270 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Anosmia |
OMIM:612370 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Helix Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... |
OMIM:617671 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Decrease... |
ORPHA:33543 |
| Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Short nasal septum, Anosmia, Depressed nasal bridge, Short nose |
OMIM:302950 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Nephronophthisis 15 |
|
Obesity, Retinal degeneration |
OMIM:614845 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Optic disc pallor, Facial palsy, Splenomegaly, Hydrocephalus, Optic atrophy, Hepato... |
OMIM:259720 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Reduced natural ... |
OMIM:603553 |
| Peroxisome Biogenesis Disorder 9B |
|
Rod-cone dystrophy, Anosmia, Total anosmia |
OMIM:614879 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Impaired social interactions, ... |
ORPHA:254531 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Small scrotum, Hypogonadotropic hypogonadism, External genital hypoplasia, Precocious puberty, Cr... |
ORPHA:398079 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Conjugated hyperbilirubinemia, Nephrocalcinosis, Aminoaciduria, Elevated ga... |
OMIM:208085 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Renal cyst, Steatorrhea, Death in childhood, Proximal tubulopath... |
OMIM:602579 |
| Squalene Synthase Deficiency |
|
Hypospadias, Failure to thrive in infancy, Optic nerve hypoplasia, Increased circulating farnesol... |
OMIM:618156 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
| Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia,... |
ORPHA:819 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
| Ceroid Lipofuscinosis, Neuronal, 6A |
|
Retinal degeneration |
OMIM:601780 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Abnormality of skin pigmentation, Jaundice |
OMIM:237450 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... |
OMIM:614736 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
| Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
| RCAD (renal cysts and diabetes) |
|
Abnormality of the liver, Diabetes mellitus, Multiple renal cysts |
DECIPHER:47 |
| Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
| Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged neonatal jaun... |
OMIM:619256 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Death in infancy, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulat... |
OMIM:618183 |
| Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Anorexia, Renal salt wasting, Hypogly... |
ORPHA:361 |
| Central Neurocytoma |
|
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression, Par... |
ORPHA:73256 |
| 11P15.4 Microduplication Syndrome |
|
Anteverted nares, Obesity |
ORPHA:300305 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr... |
OMIM:301068 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Retinal degeneration |
OMIM:251700 |
| Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Flexion contracture, Renal cyst, Hypoalbuminemia, Hepatic fibrosis, Death in childhood, Hypochole... |
OMIM:212065 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
| Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Decreased urinary p... |
ORPHA:95409 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Clitoral hypertrophy, Hypoglycemia, Optic atrophy, Low-set ears, Elevated urinary 5... |
OMIM:608688 |
| Developmental And Epileptic Encephalopathy 104 |
|
Self-injurious behavior, Hyperactivity, Agitation |
OMIM:619970 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Obesity, Hypogonadism, Retinal coloboma, Rod-cone dystrophy |
OMIM:601794 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponatremia, Hypoparathyr... |
ORPHA:199299 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Neonatal hypoglycem... |
ORPHA:168558 |
| Hyperostosis Cranialis Interna |
|
Hyposmia, Optic atrophy, Anosmia, Facial palsy |
OMIM:144755 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Retinal degeneration |
OMIM:614322 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Bardet-Biedl Syndrome 8 |
|
Rod-cone dystrophy, Hypogonadism, Obesity, Hypospadias |
OMIM:615985 |
| Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy |
OMIM:613862 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Anosmia |
OMIM:615267 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum, Wide nasal bridge |
OMIM:614019 |
| Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Death in infancy, Hyperglutaminemia, Lacticaciduria, Hyperprolinem... |
OMIM:616299 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Vertigo... |
ORPHA:77296 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circul... |
OMIM:613327 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Abnormal circulating enzyme concentration or activity, Ankle flexion ... |
ORPHA:100924 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Miscarriage, Insulin-resistant diabetes mellitu... |
OMIM:613877 |
| Abetalipoproteinemia |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to ... |
ORPHA:14 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
| Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Abnormal circulating enzyme conc... |
ORPHA:79473 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Cryptorchidism, Self-injuriou... |
ORPHA:228402 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hyposmia, Cryptorchidism, Anosmia |
OMIM:612702 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
| Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Best Vitelliform Macular Dystrophy |
|
Choroideremia, Cystoid macular degeneration |
ORPHA:1243 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Multiple joint contractures, Facial palsy, Elevated circulating creatine kinase concentration, Cr... |
ORPHA:370968 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1H |
|
Macular degeneration |
OMIM:619764 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hypopigmentati... |
ORPHA:101330 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly... |
ORPHA:2137 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent upper respiratory tract infections, Obesity |
OMIM:300209 |
| Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration |
OMIM:204200 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Hearing impa... |
OMIM:144300 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Luscan-Lumish Syndrome |
|
Aggressive behavior, Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, Polyphagia |
OMIM:616831 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Refractory Celiac Disease |
|
Elevated hepatic transaminase, Elevated alkaline phosphatase of bone origin, Hypomagnesemia, Weig... |
ORPHA:398063 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia... |
ORPHA:2473 |
| Immunodeficiency 47 |
|
Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Death in infancy, Decreased ... |
OMIM:300972 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Generalized hyperpigmentatio... |
ORPHA:79086 |
| Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
| Bartter Syndrome Type 4 |
|
Renal salt wasting, Protruding ear, Nephrocalcinosis, Increased circulating renin level, Hyponatr... |
ORPHA:89938 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Elevated... |
OMIM:212140 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Peritoneal effusion, Weight loss, Decreased circulating antibody... |
ORPHA:90362 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... |
OMIM:214110 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Hypert... |
OMIM:615381 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Salt craving, Polyuria, Renal salt wasting, Sensorineural hearing impa... |
OMIM:612780 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Hyperthyroidism, Failure to thrive in infancy, Cachexia, Abnormali... |
ORPHA:37042 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:608594 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Thyroid hypoplasia, Macroorchidis... |
ORPHA:90674 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Hypercalciuria, Depression, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hyp... |
ORPHA:428 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weight, Clitoral ... |
ORPHA:398069 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism... |
ORPHA:171876 |
| Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:85138 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... |
OMIM:619685 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
| Polyrrhinia |
|
Abnormal third ventricle morphology, Abnormal nasal bone morphology, Abnormal external nose morph... |
ORPHA:141091 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Cystoid macular degeneration, Macular atrophy, Retinal degeneration |
OMIM:267760 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Hypertriglyceridemia,... |
ORPHA:2348 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
| Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hypoalb... |
ORPHA:79319 |
| Chromosome Xq21 Deletion Syndrome |
|
Choroideremia, Chorioretinal atrophy, Obesity, Chorioretinal degeneration |
OMIM:303110 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Attention deficit hyperactivity disorder, Hypomagnesemia, Obsessive-compulsive tr... |
OMIM:619908 |
| Mehmo Syndrome |
|
Hypoplasia of penis, External genital hypoplasia, Cryptorchidism, Obesity, Agitation, Micropenis |
ORPHA:85282 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Depression, Increased circulating ... |
ORPHA:189427 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Irritability, Hypern... |
OMIM:300539 |
| Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin defici... |
ORPHA:672 |
| Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... |
OMIM:248250 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Depression... |
ORPHA:444490 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Death in infancy, Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferas... |
OMIM:617049 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... |
ORPHA:3000 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Congenital sensorineural hearing impairme... |
ORPHA:73272 |
| Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ... |
ORPHA:633 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
ORPHA:79083 |
| Idiopathic Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... |
ORPHA:95717 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
| Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... |
ORPHA:95716 |
| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Macular coloboma, Renal magnesium wasting, Rod-cone dystrophy... |
OMIM:248190 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Seckel Syndrome 10 |
|
Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglo... |
OMIM:617253 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
| Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g... |
ORPHA:53035 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Hepatitis, Weight ... |
OMIM:619381 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Optic atrophy, Rod-cone dystrophy, Retinal degeneration, Reduced sperm m... |
OMIM:602271 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Failure to thrive in infancy, Optic nerve hypoplasia, Retinal t... |
OMIM:620155 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Rod... |
ORPHA:96180 |
| Ceroid Lipofuscinosis, Neuronal, 1 |
|
Macular degeneration, Flexion contracture, Optic atrophy, Retinal degeneration |
OMIM:256730 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Hand tremor, Depression, Lateral ventricle dilatation, Dystonia |
OMIM:615889 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
| Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Posteriorly rotated ears, Femoral hernia, Cry... |
ORPHA:2849 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Atypical s... |
ORPHA:79273 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, H... |
ORPHA:90790 |
| Gitelman Syndrome |
|
Salt craving, Polyuria, Renal magnesium wasting, Vertigo, Enuresis, Hypokalemia, Chondrocalcinosi... |
OMIM:263800 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Congenital sensorineural hearing impairment, Hyperinsulinemia, Generalized aminoaci... |
OMIM:606528 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Death in infancy, Hypoglycemi... |
OMIM:617156 |
| Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology, Choanal atresia, Morning glory anomaly, Abnormality of t... |
ORPHA:91412 |
| Hypoglycemia, Leucine-Induced |
|
Irritability, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, Premature graying of hair, Fasting hypoglycemia, Hypo... |
ORPHA:769 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Renal salt wasting, Microvesicular hepatic steatosis, Hepatic fibrosis, Hy... |
ORPHA:275761 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:264350 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Abnormal vagina morph... |
ORPHA:2123 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Meacham Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Cryptorchidism, ... |
ORPHA:3097 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Laurence-Moon Syndrome |
|
Small scrotum, Chorioretinal atrophy, Obesity, Pigmentary retinopathy, Micropenis |
OMIM:245800 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Hydrocephalus, Renal tubular dysfunction, Hyperbilirubinemia, Decr... |
OMIM:614886 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
| Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
| Macular Dystrophy, Vitelliform, 3 |
|
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... |
OMIM:608161 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Wide nose, Obesity |
ORPHA:276630 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Chorioretinal hyperpigmentation, Sensorineural heari... |
OMIM:618329 |
| Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Decreased serum insulin-like growth factor 1, Elevated circulating creatine ki... |
ORPHA:314389 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Optic atrophy, Obesity |
OMIM:614651 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Small scrotum, Small for gestational age, Hypogonadotropic hypogonadism, Exter... |
ORPHA:98793 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
| Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Alg13-Cdg |
|
Abnormal lateral ventricle morphology, Anteverted nares |
ORPHA:324422 |
| Senior-Boichis Syndrome |
|
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the he... |
ORPHA:84081 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Reduced circulating prolactin concentration, Nocturia, Increased blood u... |
OMIM:223360 |
| Whipple Disease |
|
Hyponatremia, Hepatomegaly, Generalized hyperpigmentation, Cachexia, Anorexia, Splenomegaly, Insu... |
ORPHA:3452 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Failure to thr... |
OMIM:203400 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Hydrocephalus, Elevated circulating creatine kinase c... |
OMIM:615181 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Small scrotum, Small for gestational age, Hypogonadotropic hypogonadism, Exter... |
ORPHA:177904 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Retinal degeneration |
OMIM:204500 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Decreased fertility, Abnormal testis morphology, Hypogonadism, Obesity |
ORPHA:2233 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, Small for gestational age, Hypogonadotropic hypogonadism, External genital hypopla... |
ORPHA:98754 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Large for gestational age, Neonatal... |
ORPHA:79644 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Small scrotum, Small for gestational age, Hypogonadotropic hypogonadism, Exter... |
ORPHA:177901 |
| Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Diabetes mellitus, Cholangitis, Overweight, Intrahe... |
ORPHA:69663 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Abnormal autonomic nervous system physiology, Depression |
ORPHA:163921 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
| Refsum Disease, Classic |
|
Rod-cone dystrophy, Anosmia, Retinal degeneration |
OMIM:266500 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation, Type II diabetes mellitus |
ORPHA:2579 |
| Retinitis Pigmentosa 51 |
|
Bone spicule pigmentation of the retina, Obesity, Macular degeneration, Rod-cone dystrophy, Atten... |
OMIM:613464 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormality of retinal pigmentation, Failure to thri... |
ORPHA:858 |
| Oculopharyngodistal Myopathy 3 |
|
Elevated circulating creatine kinase concentration, Sensorineural hearing impairment, Pigmentary ... |
OMIM:619473 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ... |
OMIM:608612 |
| Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
| Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral reflux, Chorior... |
OMIM:118450 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614880 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hyposmia, Cryptorchidism, Anosmia |
OMIM:244200 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Hypergonadotropic hypogonadism |
OMIM:606407 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Hypoplastic female external genita... |
OMIM:612469 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Oligosacchariduria, Nephrocalcinosis... |
ORPHA:534 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Macular degeneration, Obesity, Retinal degeneration, Dysphagia |
OMIM:604360 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
| Harderoporphyria |
|
Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... |
OMIM:618892 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Camptodactyly of finger, Sensorineural hea... |
ORPHA:1466 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Proteinuria, Bilateral cryptorchidism, Obesity, Male ... |
OMIM:619471 |
| Mehmo Syndrome |
|
Small for gestational age, Aggressive behavior, Obesity, Male hypogonadism, Micropenis |
OMIM:300148 |
| Glycogen Storage Disease Vii |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:232800 |
| Fanconi-Bickel Syndrome |
|
Hepatocellular carcinoma, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elev... |
ORPHA:2088 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
|
Impaired vibratory sensation, Pain insensitivity, Impaired temperature sensation, Hypoesthesia, I... |
OMIM:616488 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Anterior pituitary hypoplasia, Abnormality of the sense of smell, Central hypothyroidism,... |
OMIM:616113 |
| Donohue Syndrome |
|
Clitoral hypertrophy, Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis,... |
OMIM:246200 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Choanal atresia, Cryptorchidism, Anosmia, Hyposmia, Micropenis, Agenesis of corpus callosum |
OMIM:147950 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Posteriorly rotated ears, Elevated circulating aspartate aminotransferase concentra... |
OMIM:614727 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ... |
OMIM:236700 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Elevated circul... |
OMIM:212138 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Bulbous nose, Obesity |
OMIM:300238 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias |
ORPHA:141333 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Decreased testicular size |
OMIM:614897 |
| Phenylketonuria |
|
Hyperactivity, Aggressive behavior, Depression, Irritability, Compulsive behaviors, Attention def... |
OMIM:261600 |
| Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Optic atrophy, Abnormal mitochondrial morphology, Agitation, R... |
OMIM:300438 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Abnormality of T cel... |
ORPHA:2237 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Elevated circulating creatine kina... |
OMIM:614576 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Death in infancy, Elevated circulating creatine kinase concentration,... |
OMIM:610505 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Anosmia, Wide nasal bridge, Frontalis muscle weakness |
OMIM:210745 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Anosmia, Abnormal cranial nerve morphology |
ORPHA:2057 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Abnormality of retinal pigmentation, Hypertriglyceri... |
ORPHA:167 |
| Bartter Syndrome, Type 2, Antenatal |
|
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... |
OMIM:241200 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic ... |
ORPHA:97362 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:239500 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Globozoosp... |
ORPHA:399808 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
| Optic Atrophy 11 |
|
Hyperactivity, Optic nerve hypoplasia, Splenomegaly, Macrotia, Optic atrophy, Facial diplegia, St... |
OMIM:617302 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Bestrophinopathy, Autosomal Recessive |
|
Retinal pigment epithelial atrophy, Retinal flecks |
OMIM:611809 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... |
OMIM:619013 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... |
ORPHA:30391 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentrati... |
OMIM:619991 |
| Bothnia Retinal Dystrophy |
|
Macular degeneration, Retinal dystrophy |
OMIM:607475 |
| Leprechaunism |
|
Protruding ear, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile hypoglyc... |
ORPHA:508 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperpigmentation of the skin |
OMIM:175500 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Hydrolethalus |
|
Polyhydramnios, Cryptorchidism, Hydrocephalus, Abnormality of the sense of smell, Agenesis of cor... |
ORPHA:2189 |
| Bachmann-Bupp Syndrome |
|
Hypoglycemia, Aggressive behavior, Large for gestational age, Cryptorchidism, Sensorineural heari... |
OMIM:619075 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Retinopath... |
ORPHA:71 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior |
OMIM:301107 |
| Angelman Syndrome |
|
Optic disc pallor, Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thru... |
ORPHA:72 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen |
OMIM:608895 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Decreased fertility, Obesity, Hypogonadism... |
ORPHA:2234 |
| Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Bilateral fetal pyelectasis, Increased ur... |
OMIM:606812 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Obesity, External genital hypoplasia |
OMIM:600151 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Elevated circulating creatine kinase concentration, Cryptorchidism, Flexion contrac... |
OMIM:613156 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Ophthalmoplegia, External, And Myopia |
|
Retinal degeneration, Chorioretinal degeneration |
OMIM:311000 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... |
ORPHA:186 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:90794 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... |
OMIM:601678 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Duplicated collecting system, Hypospadias, Elevated ... |
OMIM:301056 |
| Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Abnormal circulating enzyme concentration or activity, Decre... |
ORPHA:48818 |
| Idiopathic Intracranial Hypertension |
|
Focal sensory seizure with olfactory features, Papilledema, Obesity |
ORPHA:238624 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Elevated circulat... |
OMIM:201475 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidism, Microvesicular hepa... |
ORPHA:66634 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num... |
OMIM:208920 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Dupuytren contracture, Lipodystrophy, Jaundice, Chronic... |
ORPHA:39812 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Hepatomega... |
ORPHA:280365 |
| Hypomagnesemia 6, Renal |
|
Impaired renal tubular reabsorption of magnesium, Vertigo, Hypomagnesemia |
OMIM:613882 |
| Scheie Syndrome |
|
Wide nose, Depressed nasal bridge, Retinal degeneration |
OMIM:607016 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Decreased motor nerve conduction velocity, Peripheral axonal neuro... |
ORPHA:298 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Cranial nerve ... |
ORPHA:52430 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
| Summitt Syndrome |
|
Wide nose, Depressed nasal ridge, Obesity, Tall stature |
ORPHA:3210 |
| Mpdu1-Cdg |
|
Abnormal circulating enzyme concentration or activity, Decreased serum insulin-like growth factor... |
ORPHA:79323 |
| Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Wide nose, Abnormal lateral ventricle morphology, Depressed nasal bridge, Gait ataxia |
ORPHA:488635 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608799 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Obesity, Short nose |
OMIM:611936 |
| Papillorenal Syndrome |
|
Renal cyst, Macular degeneration, Vesicoureteral reflux, Multicystic kidney dysplasia, Optic disc... |
OMIM:120330 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
| Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Abnormality of the female ... |
ORPHA:2315 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinosis, Hypoka... |
OMIM:617913 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal cotton wool spot, Proteinuria, Nodular regenerative hyperplasia of liver, Abnormal retina... |
ORPHA:247691 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Abnormality of skin pigmentation, A... |
OMIM:240200 |
| Hartsfield Syndrome |
|
Hypospadias, Posteriorly rotated ears, Alobar holoprosencephaly, Cryptorchidism, Gonadotropin def... |
OMIM:615465 |
| Mirage Syndrome |
|
Hyponatremia, Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Ad... |
OMIM:617053 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Panhypopituitari... |
ORPHA:2162 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy, Congenital hepatic fibrosis, Chronic kidn... |
ORPHA:3156 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Pigmentary retinopathy, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Tremor, Lateral ventricle dilatation, Dystonia, Depression |
ORPHA:306669 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fi... |
ORPHA:79259 |
| Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly, Wide nasal bridge, Renal cyst |
OMIM:614870 |
| Preeclampsia |
|
Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,... |
ORPHA:275555 |
| Landau-Kleffner Syndrome |
|
Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm... |
ORPHA:98818 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cholangitis, Microvesicular hepatic steatosis, Tubulointerstitial nephritis, Aminoaciduria, Recur... |
OMIM:124000 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Sensorineural hearing impairment, Elevated circulating creatinine... |
OMIM:154230 |
| Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Pigmentary retinopathy, Hypocalcem... |
ORPHA:746 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Anteverted nares, Obesity, Broad nasal tip |
ORPHA:1193 |
| Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Lipoatrophy, Insulin resistance, Decreased circulating complement C3... |
ORPHA:79087 |
| Senior-Loken Syndrome 9 |
|
Retinal dystrophy, Obesity, Macular degeneration, Hypogonadism, Rod-cone dystrophy |
OMIM:616629 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Optic atrophy, Death in childhood, ... |
OMIM:617303 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Facia... |
OMIM:500009 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Macroorchi... |
ORPHA:3077 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Aggressive behavior |
OMIM:248510 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
| Cone-Rod Dystrophy 13 |
|
Cone/cone-rod dystrophy, Macular degeneration |
OMIM:608194 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Retinal dystrophy, Obesity |
OMIM:616756 |
| Lennox-Gastaut Syndrome |
|
Mental deterioration, Hyperactivity, Aggressive behavior |
ORPHA:2382 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Splenomegaly, Increased circulating ferritin concentratio... |
ORPHA:766 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation, Renal insufficiency |
ORPHA:655 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... |
ORPHA:99901 |
| Panhypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Polydipsia, Reduced ... |
ORPHA:95513 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Death in infancy, Death in early adulthood, Elevated circulating creatine kinase co... |
ORPHA:682 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Abnormal pinna morphology, Glutaric aciduria, Jaundice, Generalized a... |
OMIM:231680 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor |
OMIM:619389 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Macular atrop... |
OMIM:619418 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Anosmia |
OMIM:601152 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hyperactivity, Hypospadias, Precocious puberty, Cryptorchidism, Hyperlipidemia... |
ORPHA:254346 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Anosmia |
OMIM:618841 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Optic atrophy, Hyperammonemia, Failure... |
ORPHA:79312 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Anteverted nares, Micropenis |
OMIM:300982 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Tremor, Anosmia, Dysphagia, Distal sensory impairment, Dystonia, Hyposmia |
OMIM:606693 |
| Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Proteinuria, Anorexia, Splenomegaly, Jaundice, Hepatitis, Hema... |
ORPHA:549 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Lack of facial subcutaneous fat, Glucose intolerance, Decreased adipose tissue around neck, Insul... |
OMIM:606721 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity |
OMIM:264120 |
| Rhyns Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis, Hypopituitarism, Rod-co... |
ORPHA:140976 |
| Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Cryptorchidism, Anosmia, Azoospermia, Hyposmia, Testicular atrophy, Decreased ... |
OMIM:308700 |
| Bardet-Biedl Syndrome 6 |
|
Hypospadias, External genital hypoplasia, Obesity, Pigmentary retinopathy, Rod-cone dystrophy, Va... |
OMIM:605231 |
| Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Retinal arteriolar tortu... |
OMIM:611773 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Increased urinar... |
ORPHA:209919 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:614887 |
| Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Hyperalaninemia, Vaginal fistula, Sensorineural hearing impairment |
ORPHA:2597 |
| Gracile Syndrome |
|
Death in early adulthood, Increased circulating ferritin concentration, Cholestasis, Renal Fancon... |
ORPHA:53693 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Polycystic liver disease, Pancreatic fibrosis, Proteinuria... |
OMIM:208500 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Hearing abnormality, Abnormality of the pancreati... |
ORPHA:97279 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hyperkale... |
ORPHA:427 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Increased circulating lactate de... |
ORPHA:26791 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Sensorineural hearing impairment, Aminoaciduria, Galactosur... |
OMIM:230350 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
| D-Glyceric Aciduria |
|
Hypoglycemia, Optic nerve hypoplasia, Sensorineural hearing impairment, Tongue thrusting, Reduced... |
OMIM:220120 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Anosmia |
OMIM:614842 |
| Gorlin Syndrome |
|
Cryptorchidism, Wide nasal bridge, Abnormality of the sense of smell |
ORPHA:377 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Carnosinuria |
OMIM:236130 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
| Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Cryptorchidism, Obesity, Attention deficit hyperactivity disorder |
OMIM:617991 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Macular degeneration |
ORPHA:85334 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Hashimoto th... |
ORPHA:49041 |
| Cholera |
|
Hyponatremia, Abnormality of renal excretion, Hypoglycemia, Miscarriage, Abnormal blood ion conce... |
ORPHA:173 |
| Johnson Neuroectodermal Syndrome |
|
Facial palsy, Choanal atresia, Bulbous nose, Anosmia, Failure to thrive |
ORPHA:2316 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Inguinal hernia, Macular coloboma, Nephrolithiasis, Hematuri... |
ORPHA:2196 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S... |
OMIM:615516 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... |
OMIM:604484 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Irritability, Gly... |
ORPHA:2089 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Failure to thrive, Hyperkalemia |
OMIM:143860 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death... |
OMIM:613730 |
| Glycogen Storage Disease Xii |
|
Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Elevated circulating cre... |
OMIM:611881 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism, Rod-cone dystrophy, Obesity |
OMIM:615633 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Anosmia |
OMIM:614839 |
| Snakebite Envenomation |
|
Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Acute kidney injury |
ORPHA:449285 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Hypoglyc... |
OMIM:229600 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Miscarriage, Hyperlipidemia, Obesity, Increased alpha-g... |
ORPHA:86816 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased serum testosterone concentration, Hypogonadotropic hy... |
ORPHA:465508 |
| Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Myoglobinuria, Renal insufficiency, Retinal dystrophy, Hyperbilirubinemia |
ORPHA:713 |
| Prader-Willi Syndrome |
|
Small scrotum, Failure to thrive in infancy, Hypogonadotropic hypogonadism, External genital hypo... |
OMIM:176270 |
| Rafiq Syndrome |
|
Wide nose, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesity, Underdevelo... |
OMIM:614202 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Obesity, Short nose, Low hanging columella |
OMIM:617752 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Papillary cystadenoma of the epididymis, Renal Fanconi syndrome, Hypothyroidism, Hepatic steatosi... |
ORPHA:93111 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cryptorchidism, Micropenis, Obesity, Hypoplasia of the prostate |
OMIM:301900 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Occipital encephalocele, Encephal... |
OMIM:216360 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Holoprosencephaly, Hypocholesterolemia... |
OMIM:270400 |
| Relapsing Fever |
|
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Jaundice, E... |
ORPHA:91547 |
| Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy, Peripheral axonal neuropathy, Hearing impairment |
OMIM:619090 |
| Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Hyperbilirubinemia |
OMIM:301094 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Eleva... |
ORPHA:230 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hypothyroidism, Hepatosplenomegaly, Weight loss, Unconju... |
OMIM:613673 |
| Trisomy 18P |
|
Bilateral cryptorchidism, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Sensorineural hearing impairment, Elevate... |
ORPHA:423479 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620125 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Rod-cone dystrophy, Retinal atrophy, Wide nasal bridge |
OMIM:610127 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital stationary night blindness, Wide nasal bridge, Obesity |
ORPHA:352530 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Anteverted nares, Retinal degeneration |
OMIM:616211 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Renal insufficiency, Glomerulopathy, Orthostatic hy... |
ORPHA:1764 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Depression, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto... |
ORPHA:83601 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Hyperthyroidism, Depression, Increased muscle glycogen content, Pigmentary ret... |
ORPHA:502423 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Cryptorchidism, Anosmia, Testicular atrophy |
OMIM:308750 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Elevated circul... |
ORPHA:542323 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Bulbous nose, Obesity |
ORPHA:85286 |
| Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Self-biting, Depression, Stereotypical body rocking, Microtia, ... |
ORPHA:293939 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal urinary color, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno... |
ORPHA:234 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Renal insufficiency, Restlessness, Abnormal circulating enzyme concentr... |
ORPHA:79276 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Adenohypophysitis |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... |
ORPHA:95512 |
| Sheehan Syndrome |
|
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypoglycemia, Reduce... |
ORPHA:91355 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Low-set ears, Vaginal atresia |
OMIM:617088 |
| 3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepati... |
OMIM:610198 |
| C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... |
ORPHA:329918 |
| Diabetes And Deafness, Maternally Inherited |
|
Abnormal vestibular function, Sensorineural hearing impairment, Vertigo, Pigmentary retinopathy, ... |
OMIM:520000 |
| Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic steatosis, Retinal de... |
ORPHA:79474 |
| Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Rhegmatogenous retinal detachment, Lattice retinal degeneration |
OMIM:619248 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Protruding ear, Abnormality of skin pigmentation, Tics, Chorioretinal coloboma, Co... |
OMIM:619475 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Abnormality of the sense of smell |
ORPHA:3201 |
| Prader-Willi Syndrome |
|
Small scrotum, External genital hypoplasia, Precocious puberty, Cryptorchidism, Hypoplastic labia... |
ORPHA:739 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
| Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Cryptorchidism, Anosmia, Obesity |
ORPHA:3157 |
| Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Vaginal neoplasm, Reduced C-peptide le... |
ORPHA:2126 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:616030 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Hypomagnesemia 4, Renal |
|
Hypomagnesemia |
OMIM:611718 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Depressed nasal bridge, Obesity |
ORPHA:444002 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
| Shigellosis |
|
Hyponatremia, Failure to thrive in infancy, Hypoglycemia, Anorexia, Hemolytic-uremic syndrome, Pe... |
ORPHA:810 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Prominent nasal bridge, Retinal dystrophy, Obesity, Rod-cone dystrophy |
ORPHA:261222 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Decreased nerve conduction velocity, Chorioretinal atrophy, Hyperammonemia, Hyperor... |
OMIM:238970 |
| Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia |
|
Retinal degeneration |
OMIM:617173 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, Aminoaciduria, Death in childhood, Intrahepatic biliary dysgenesis, Hepatomeg... |
OMIM:214100 |
| Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Retinal dystrophy, Rod-cone dystrophy, Sen... |
OMIM:266510 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Hepatic fibrosis, M... |
OMIM:209900 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Duplicated collecting system, Diabetes mellitus, Sensorineural hea... |
ORPHA:541423 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Short nose, Anosmia |
ORPHA:1295 |
| Trisomy 5P |
|
Hypoplasia of penis, Obesity |
ORPHA:1742 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Anosmia, Decreased testicular size |
OMIM:614837 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Depressed nasal bridge, Macular coloboma, Abnormal auditory evoked potentials,... |
OMIM:619260 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s... |
OMIM:147250 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Occipital encephalocele, Optic nerve hypoplasia, Elevated circulating creatin... |
ORPHA:370959 |
| Cone Dystrophy 3 |
|
Cone/cone-rod dystrophy, Macular atrophy |
OMIM:602093 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hyperactivity |
OMIM:615924 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Abnormal chorioretina... |
ORPHA:912 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus, Renovascular hypertension |
ORPHA:401923 |
| Cln3 Disease |
|
Bull's eye maculopathy, Aggressive behavior, Optic atrophy, Depression, Increased circulating and... |
ORPHA:228346 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
| Achromatopsia 7 |
|
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
| Cone-Rod Dystrophy 15 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels |
OMIM:613660 |
| 8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Short nose |
ORPHA:2429 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... |
OMIM:614292 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia |
OMIM:616949 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Hypoglycemi... |
ORPHA:5 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus, Hyperuricemia, Hearing imp... |
ORPHA:2801 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Abnormal fallopian tube morphology, Splenomegaly, Pancreatic lymph... |
ORPHA:1655 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
| Oculorenocerebellar Syndrome |
|
Retinal degeneration |
OMIM:257970 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Generalized hyperpigmentation, Increased circul... |
ORPHA:79230 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Macular atrophy, Prominent nose, Optic atrophy, Retinopathy |
OMIM:616171 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased cir... |
OMIM:618944 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased urine alpha-ketoglutarate concentration, F... |
ORPHA:2394 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Sensorineural hearing impairment |
ORPHA:3225 |
| Infantile Refsum Disease |
|
Hepatomegaly, Very long chain fatty acid accumulation, Facial palsy, Rod-cone dystrophy, Sensorin... |
ORPHA:772 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Elevated hepatic transaminase, Peripheral axona... |
OMIM:615673 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha... |
OMIM:613095 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypopigmentation of the skin, Inguinal hernia, Homocystinuria, Methioninuria, Depression, Hyperho... |
OMIM:236200 |
| Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro... |
OMIM:154020 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Abnormal circulating biopterin concentration, Maturity-onset diabetes of the young, Hyperphenylal... |
ORPHA:1578 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation, Diabetes mellitus, Abnormal dental enamel morphology, Sensor... |
ORPHA:3019 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Bulbous nose, Obesity |
ORPHA:480907 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Retinopathy, Hepatic steatosis |
OMIM:615119 |
| Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... |
OMIM:137920 |
| Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly, Impaired vibration sensation in the lower limbs |
ORPHA:401815 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Polyuria, Mottled pigmentation of photoexposed areas, Death in adolescence, Pigment... |
OMIM:560000 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Small for gestational age, Hypoglycemia,... |
OMIM:615160 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Thick nasal alae, Obesity, Tall stature, Broad columella |
ORPHA:85325 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Hyperalaninemia, Pigmentary retinopathy, Hyperglycinemia, Death in adolescence |
OMIM:619059 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Dysphagia |
OMIM:164500 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
| Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Abnormal autonomic nervous sy... |
ORPHA:778 |
| Congenital Hydrocephalus |
|
Bulbous nose, Hydrocephalus, Ventriculomegaly, Colpocephaly |
ORPHA:2185 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Vertigo, Obesity, Nephrocalcin... |
ORPHA:90041 |
| Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Low-set ears, Hepatomegaly, Polycystic kidney dysplasia, Increased circulating very long-chain fa... |
OMIM:614859 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Decreased circulating complement factor B concentration, Hemolytic-uremic syndrome, Hyper... |
OMIM:235400 |
| Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Renal hypoplasia, Hyperammonemia, ... |
ORPHA:254913 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Abdominal obesity, Hypogonadism, Decreased testicular ... |
OMIM:300869 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hepatic calcification, Hyperprostaglandinuria,... |
ORPHA:73224 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Obesity |
OMIM:619854 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:604393 |
| Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Aggressive behavior, Depression, Self-injurious behavior, Compulsive behaviors |
OMIM:619467 |
| Superficial Siderosis |
|
Enlarged sylvian cistern, Ataxia, Partial anosmia, Impaired temperature sensation, Impaired pain ... |
ORPHA:247245 |
| Neuromuscular Oculoauditory Syndrome |
|
Posteriorly rotated ears, Elevated circulating creatine kinase concentration, Decreased nerve con... |
OMIM:618733 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Hernia, Hyperbilirubinemia, Abnormality of the lower urinary tract, Hearing impair... |
ORPHA:101009 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia... |
ORPHA:391673 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Cryptorchidism, Anosmia, Decreased testicular size |
OMIM:614841 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Abnormal renal cortex morphology, Retinal hemorrhage,... |
ORPHA:464321 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Peripheral axonal neuropathy, Diabetes mellitus, Functional abnormality of the bladder, Pigmentar... |
ORPHA:100996 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Abnormal reprodu... |
ORPHA:70472 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Optic atrophy, Renal tubular dysfunction, Pigmentar... |
ORPHA:436271 |
| Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Decreased number of large peripheral myelinated nerve fibers, Elevated c... |
OMIM:223900 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hydrocephalus, Addictive alcohol use, Left ventricular hypertrophy, Hypercholest... |
ORPHA:90065 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Hydrocephalus, Flexion contracture, Optic atrophy, Ren... |
OMIM:619321 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Aqueductal stenosis, Protruding ear... |
OMIM:619534 |
| Band Heterotopia |
|
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation |
OMIM:600348 |
| Clark-Baraitser syndrome |
|
Anteverted nares, Broad nasal tip, Obesity, Macroorchidism, Tall stature |
OMIM:300602 |
| Young-Onset Parkinson Disease |
|
Gastroparesis, Tremor, Diarrhea, Depression, Constipation, Dystonia, Hyposmia, Nausea |
ORPHA:2828 |
| Refsum Disease |
|
Retinopathy, Abnormality of retinal pigmentation, Anosmia |
ORPHA:773 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Eye poking, Atte... |
OMIM:204100 |
| Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Hydrocephalus, Elevated circulating c... |
OMIM:619111 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Elevated circulating thyro... |
ORPHA:90673 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Abnormal sperm morphology, Small for gestational age, Mi... |
ORPHA:330015 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Recurrent urinary tract infections, Elevated circulating aspartate aminotransferase... |
OMIM:615559 |
| Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:618348 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
| Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Abnormal blood ion concentration, Oliguria, Hypophosphatemia, ... |
ORPHA:31824 |
| Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Rod-cone dystrophy, Cryptorchid... |
OMIM:613861 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
| Galactosemia I |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con... |
OMIM:230400 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Sensorineural hearing impairment, Optic atrophy, Renal cyst, Hepatic... |
OMIM:601539 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Ascites, Acholic stools, Hyp... |
OMIM:615710 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Conductiv... |
OMIM:201750 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... |
OMIM:613154 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f... |
OMIM:619503 |
| Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Sensorineural hearing imp... |
ORPHA:44 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation, Renal insufficiency, Abnormality of the liver, Nephronophthi... |
ORPHA:474 |
| Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Sjogren-Larsson Syndrome |
|
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Flexion contracture, Macu... |
OMIM:270200 |
| Bardet-Biedl Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Hypoplasia of penis, Cryptorchid... |
ORPHA:110 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Peritonitis, Elevated circulating creatinine concentration, Irritability, H... |
ORPHA:90038 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Azoospermia, Testicular microlithiasis, Abnormality of the Leydig cells, Abnormality of the sense... |
OMIM:228300 |
| B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79332 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Truncal obesity, Broad nasal tip |
ORPHA:3459 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive |
ORPHA:172 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nose, Bulbous nose, Wide nasal bridge, Obesity |
ORPHA:2180 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Jaundice, Sensorineural hearing ... |
ORPHA:290 |
| Narp Syndrome |
|
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Irritabili... |
ORPHA:644 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Renal insufficiency, Optic atrophy, Hyperammonemia, Renal tubular dysfunction, Panc... |
ORPHA:289916 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Sensor... |
ORPHA:98907 |
| Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Weight loss, Hepatosplenomegaly, Increased circulating IgG level, Increas... |
OMIM:209950 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
| Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Elevated circulating creatine kinase concentration, Depression, Pigmentary retin... |
OMIM:617675 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-react... |
OMIM:308240 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t... |
ORPHA:412035 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Re... |
ORPHA:364055 |
| Laurence-Moon Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus, Obesity |
ORPHA:2377 |
| Immunodeficiency 61 |
|
Obesity, Recurrent sinusitis |
OMIM:300310 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... |
OMIM:246900 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Death in infancy, Cryptorchidism, Elevated circulating creatinin... |
OMIM:608104 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Nasal polyposis, Anosmia, Chronic rhinitis |
OMIM:244400 |
| White-Sutton Syndrome |
|
Duplicated collecting system, Hyperactivity, Posteriorly rotated ears, Optic nerve hypoplasia, Co... |
OMIM:616364 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Premature ovarian insufficiency, Camptodactyly of finger |
ORPHA:2928 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Retinal detachment, Death in infancy, Remnants of the hyaloid vascular system, Opt... |
OMIM:614643 |
| Leigh Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy,... |
OMIM:256000 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... |
OMIM:268020 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Parkinson Disease 8, Autosomal Dominant |
|
Hyposmia |
OMIM:607060 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Inguinal hernia, Abnormality of the endocrine system, Cryptorchidism, Macrotia, Abnormality of pa... |
ORPHA:166035 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Hyperglycemia, Retinal thinning |
OMIM:618970 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Sensorineural hearing impairment, Optic atrophy, Re... |
OMIM:220110 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:329178 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hypomethioninemia, Hyperhomocystinemia, Retinal degeneration, Glomerulopathy, Ketonuria, Hemolyti... |
ORPHA:79282 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
| Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Failure to thrive, Small for g... |
OMIM:613658 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Jaundice, Elevated circulating creatinine concentration, ... |
OMIM:274150 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
OMIM:615541 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Inguinal hernia, Hearing impairment, Bilateral cryptorchidism, Hydrometrocolpos, Protruding ear, ... |
OMIM:150230 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ab... |
OMIM:194072 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Convex nasal ridge, Anteverted nares, Obesity |
ORPHA:1035 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Anosmia, Oligozoospermia, Azoospermia, Abnormal sperm morphology... |
ORPHA:52901 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
| Transketolase Deficiency |
|
Hepatomegaly, Increased level of ribose in urine, Hearing impairment, Renal cyst, Self-injurious ... |
ORPHA:488618 |
| Megalencephaly |
|
Macroorchidism, Truncal obesity, Wide nasal bridge |
ORPHA:2477 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Decreased glomerular filt... |
OMIM:232200 |
| Alg6-Cdg |
|
Rod-cone dystrophy, Failure to thrive, Retinal degeneration |
ORPHA:79320 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hepatomegaly, Death in infancy, Sensorineural hearing impairment, Optic atrophy, Low-set ears, Ab... |
ORPHA:2971 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Axonal loss, Hypotriglyceridemia, Hepatomegaly, Micronodular ci... |
ORPHA:404454 |
| Parathyroid Carcinoma |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:143 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Overgrowth, Polyphagia, Tall stature |
OMIM:300942 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Hydrocephalus, Chronic kidney disease, Ob... |
OMIM:615630 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attention de... |
ORPHA:210548 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Occipital encephalocele, Retinal atrophy, Elevated circulating creatine kinas... |
OMIM:236670 |
| Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, O... |
ORPHA:1454 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia, Decreased nerve conduction velocity... |
ORPHA:1933 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy, Low-set ears |
OMIM:616606 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Hiatus hernia, Urinary hesitancy, Sensorineural hearing impa... |
OMIM:609727 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Obesity, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of... |
OMIM:615300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Aggr... |
ORPHA:96121 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesity, Primary a... |
OMIM:619737 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the outer ear |
ORPHA:2515 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Short columella, Short nose |
ORPHA:171839 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Abnormal circulating enzyme concentration or activity, Depression, Pigmentary ... |
ORPHA:79264 |
| X-Linked Acrogigantism |
|
Increased body mass index, Abnormal optic chiasm morphology, Hypogonadism, Polyphagia, Tall stature |
ORPHA:300373 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Prominent nose, Obesity, Failure to thrive, Convex nasal ridge, Low hanging columella |
OMIM:610543 |
| Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Intrahepatic cholestasis, Myelomeningocele, ... |
OMIM:607330 |
| Bresek Syndrome |
|
Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Optic nerve hypoplas... |
ORPHA:85284 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp... |
OMIM:619902 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Primary hypothyroidism... |
ORPHA:300536 |
| Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration |
OMIM:252650 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Decreased circulating plasmalogen concentration, Optic nerve hypoplasia, Flexion... |
OMIM:222765 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Increased muscle lipid content, Increased muscle glycogen content, Abnormality of t... |
ORPHA:254864 |
| Mirizzi Syndrome |
|
Elevated hepatic transaminase, Dark urine, Anorexia, Pancreatitis, Jaundice, Elevated circulating... |
ORPHA:521219 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Optic disc pallor, Failure to thrive in infancy, Elevated circulat... |
OMIM:610377 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
| Juvenile Huntington Disease |
|
Irritability, Hyperactivity, Dementia, Depression |
ORPHA:248111 |
| Pontocerebellar Hypoplasia, Type 12 |
|
Lateral ventricle dilatation, Polyhydramnios |
OMIM:618266 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Unco... |
OMIM:266200 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act... |
OMIM:277400 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Sensorineural hearing impairment, Chronic kidney... |
OMIM:146255 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Small for gestational age, Reduced level of N-acetylglucosaminyltransferase II, Spl... |
OMIM:224120 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Increased circulating ferritin concentration, Pigmentary retinopathy, Delayed puberty, Hypopituit... |
OMIM:600462 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Retinal dystrophy, Peripheral retinal atrophy |
OMIM:615147 |
| Joubert Syndrome 20 |
|
Retinopathy, Self-mutilation, Renal cyst, Aggressive behavior |
OMIM:614970 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Impulsivity, Optic atrophy, Attention deficit hyperactivity disorder, Failure to thrive, Retinal ... |
ORPHA:442835 |
| Nephronophthisis 14 |
|
Retinal degeneration |
OMIM:614844 |
| Cone-Rod Dystrophy 21 |
|
Retinal dystrophy, Macular atrophy |
OMIM:616502 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Limb ataxia, Hand tremor, Lateral ventricle dilatation, Dysphagia |
OMIM:607596 |
| Johanson-Blizzard Syndrome |
|
Fair hair, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Elevated gamma-glutamyl... |
OMIM:243800 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Hydrocephalus, Grade II vesicoureteral reflux, Cho... |
OMIM:619377 |
| Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration |
OMIM:264420 |
| Cach Syndrome |
|
T2 hypointense thalamus, Renal hypoplasia, Dysmetria, Limb ataxia, Dysphagia, Irritability, Later... |
ORPHA:135 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Thickened helices, Optic nerve hypoplasia, Self-injurious behavior, Prolonged neonatal jaundice, ... |
OMIM:618828 |
| Pseudopseudohypoparathyroidism |
|
Depressed nasal bridge, Obesity |
OMIM:612463 |
| Microcephaly, Amish Type |
|
Hypoplasia of the fovea, Hepatomegaly, Flexion contracture, Optic atrophy, Irritability, Failure ... |
OMIM:607196 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Abnormality of female external genitali... |
ORPHA:168563 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Obesity |
OMIM:618124 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys... |
ORPHA:91 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity |
ORPHA:88643 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy, Increased level of L-pyroglutamic acid in urine, Reduced glutathione synt... |
OMIM:266130 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... |
OMIM:619644 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
| Oguchi Disease |
|
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon |
ORPHA:75382 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ... |
OMIM:614922 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Retinal degeneration |
OMIM:256731 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Ataxia, Hydrocephalus, Choreoathetosis, Colpocephaly, Hyperlysinuria, Dystonia, Ventriculomegaly |
OMIM:616034 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Flexion contracture, Optic atrophy, Abnormality of visual ev... |
ORPHA:141 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Cryptorchidism, Optic atrophy, Retinal degeneration |
OMIM:249270 |
| Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Spastic/hyperactive bladder, Dysphagia, Depression, Chronic constipation, Low fru... |
ORPHA:411602 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Increased serum iron, Increased total iron binding capacity, Hyper... |
ORPHA:98870 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
| Craniopharyngioma |
|
Papilledema, Hypogonadotropic hypogonadism, Optic atrophy, Obesity, Hypogonadism, Polyphagia |
ORPHA:54595 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Obesity, Primary amenorrhea, Pigmentary retin... |
ORPHA:2235 |
| Sjögren-Larsson Syndrome |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Abnormal dental enamel morpho... |
ORPHA:816 |
| Micro Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cryp... |
ORPHA:2510 |
| Japanese Encephalitis |
|
Hyponatremia, Decreased motor nerve conduction velocity, Facial palsy, Anorexia, Paucity of anter... |
ORPHA:79139 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysmal burst... |
OMIM:618718 |
| Kallmann Syndrome |
|
Hypoplasia of penis, Ataxia, Tremor, Cryptorchidism, Anosmia, Micropenis, Hyposmia, Anterior hypo... |
ORPHA:478 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation, Anterior hypopituitarism, Hearing impairment |
ORPHA:480 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Axial Osteomalacia |
|
Polycystic liver disease, Elevated circulating creatine kinase concentration, Renal cyst |
OMIM:109130 |
| Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Hyperactivity, Retinal dystrophy, Aggressive behavior, Optic disc coloboma, Re... |
OMIM:213300 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Hydrocephalus, Optic atrophy, Elevated circulating alka... |
OMIM:259700 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... |
OMIM:620141 |
| 47,Xyy Syndrome |
|
Male infertility, Hyperactivity, Hypospadias, Impulsivity, Cryptorchidism, Congenital stationary ... |
ORPHA:8 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Decreased testicular size, Restlessness, External genital hypoplasia, Aggressive behavior, Crypto... |
ORPHA:251028 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Depressed nasal bridge, Prominent nose, Bulbous nose, Obesity, Prominent nasal tip, Underdevelope... |
OMIM:620191 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts, Retinal vascular tortuosity |
ORPHA:73229 |
| Arima Syndrome |
|
Hepatomegaly, Polydipsia, Occipital meningocele, Proteinuria, Polyuria, Retinal dystrophy, Optic ... |
OMIM:243910 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Depressed nasal bridge, Anteverted nares, Cryptorchidism, Obesity, Short nose |
OMIM:614613 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... |
ORPHA:232 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal cyst, Abnormal parathyroid morphology, Nephrocalcinosis, Elevated circulating parathyroid h... |
ORPHA:99880 |
| Gangliocytoma |
|
Impotence, Decreased female libido, Polyphagia, Amenorrhea |
ORPHA:251937 |
| Neuhauser Syndrome |
|
Cupped ear, Large fleshy ears, Primary hypothyroidism, Dysphagia, Hypercholesterolemia |
OMIM:249310 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis, ... |
ORPHA:1390 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, He... |
OMIM:618278 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Failure to thrive, Proteinuria, Cachexia, Hea... |
OMIM:610965 |
| Monosomy 13Q34 |
|
Posteriorly rotated ears, Hypercalcemia, Insulin resistance, Fetal pyelectasis, Obesity, Abnormal... |
ORPHA:96168 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... |
OMIM:156200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Abnormality of retinal pigmentation, Proteinuria, Heparan sulfate excretion in urine, Hydrocephal... |
ORPHA:505248 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Low alkaline phosphatase, Irritability, Dec... |
OMIM:201100 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Flexion contracture, Obesity, Bruxism, Macroorchidism, Male hypogonadism, Wrist fle... |
OMIM:300055 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, J... |
OMIM:603552 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating acylcarn... |
ORPHA:159 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... |
ORPHA:1215 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Organic aciduria, Propionyl-CoA carboxylase deficiency |
ORPHA:35 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Abnormal erythrocyte enz... |
ORPHA:447 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Wide nasal bridge, Obesity |
OMIM:618821 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
| Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Sensorineural hearing impairment, Protruding ear, Hypercholesterolemia, Abnormal ... |
ORPHA:2479 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Segmental peripheral demyelination/re... |
ORPHA:255210 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Emotional lability, Agitat... |
ORPHA:927 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Optic atrophy, Hyperammonemia, Pancreatitis |
ORPHA:27 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... |
OMIM:600430 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Facial palsy |
ORPHA:2743 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... |
OMIM:616878 |
| Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Retinal arteriolar constriction, Retinal degenerati... |
ORPHA:191 |
| Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Cryptorchidism, Truncal obesity,... |
ORPHA:404448 |
| Leber Congenital Amaurosis |
|
Encephalocele, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Hearing impai... |
ORPHA:65 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Decreased serum testosterone concentrati... |
ORPHA:2959 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Dilated fourth ventricle, Depressed nasal bridge, Anteverted nares, Lateral ventricle dilatation,... |
OMIM:613443 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Death in infancy, Failure to thrive in infancy, Card... |
OMIM:619064 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypouricemia, ... |
OMIM:616026 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Ataxia, Urinary incontinence, Red... |
ORPHA:2495 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Hyperactivity, Hypospadias, Optic nerve hypoplasia, Tics, Inappropriate laughter, Low frustration... |
ORPHA:363686 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulating enzyme ... |
ORPHA:17 |
| Verheij Syndrome |
|
Branchial cyst, Small for gestational age, Optic nerve hypoplasia, Renal agenesis, Renal hypoplas... |
OMIM:615583 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Decreased circulating IgG2 level, Sensorin... |
ORPHA:1493 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Hypoglycemia, Decr... |
OMIM:232220 |
| Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Hydrocele testis, Overgrowth, Camptodactyly, Umbilical hernia, J... |
OMIM:277590 |
| Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating aspartate aminotransferase concentration, Elevated circul... |
ORPHA:90003 |
| Joubert Syndrome 14 |
|
Encephalocele, Posteriorly rotated ears, Morning glory anomaly, Hydrocephalus, Meningocele, Optic... |
OMIM:614424 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Weight loss, Knee flexion contracture, Irritability, Pigmentary retinopath... |
ORPHA:3208 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
| X-Linked Intellectual Disability, Najm Type |
|
Failure to thrive, Optic nerve hypoplasia, Sensorineural hearing impairment, Optic atrophy, Chori... |
ORPHA:163937 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Retinal pigment epithelial mottli... |
OMIM:614105 |
| Ogden Syndrome |
|
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Protruding ear, Macrovesicular... |
OMIM:300855 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Elevated circulating creatine kinase conc... |
ORPHA:480864 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Ascites |
ORPHA:100025 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Aggressive behavior, Cryptorchidism, Abdominal obesity, Hypogonadism,... |
OMIM:300354 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| 8Q21.11 Microdeletion Syndrome |
|
Cryptorchidism, Wide nose, Underdeveloped nasal alae, Abnormality of the sense of smell |
ORPHA:284160 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616689 |
| Cornelia De Lange Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Cryptorchidism... |
OMIM:300882 |
| Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Aminoaciduria, Renal Fanconi ... |
OMIM:309000 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Chorea, Dystonia, Dilated third ventricle, Intention tremor |
OMIM:619725 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Failure to thrive, Hyperammonemia |
ORPHA:28 |
| Steinert Myotonic Dystrophy |
|
Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Non-medullary t... |
ORPHA:273 |
| Joubert Syndrome 16 |
|
Encephalocele, Retinal dystrophy, Renal cyst, Nephronophthisis |
OMIM:614465 |
| Joubert Syndrome 37 |
|
Wide nose, Anteverted nares, Cryptorchidism, Wide nasal bridge, Obesity, Decreased testicular size |
OMIM:619185 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Hypopigmentation of the skin, Small for gestational age, Elevate... |
OMIM:210900 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
| Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Increased circulating lactate dehydrogenase concentration, Splenomeg... |
OMIM:210250 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Late-Onset Retinal Degeneration |
|
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... |
ORPHA:67042 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Ve... |
OMIM:619955 |
| Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Obesity, Hypogonadism, Flexion cont... |
ORPHA:3409 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Decreased circulating parathyr... |
OMIM:240300 |
| Trisomy 13 |
|
Abnormal retinal vascular morphology, Cryptorchidism, Sensorineural hearing impairment, Abnormali... |
ORPHA:3378 |
| Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, V... |
ORPHA:116 |
| Carpenter Syndrome |
|
External genital hypoplasia, Abnormal reproductive system morphology, Cryptorchidism, Obesity, Um... |
ORPHA:65759 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Diabetes mellitus |
ORPHA:96 |
| Werner Syndrome |
|
Renal neoplasm, Abnormality of retinal pigmentation, Lipodystrophy, Lipoatrophy, Miscarriage, Ins... |
ORPHA:902 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Sensorineural hearing imp... |
OMIM:222300 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Hyperbilirubinemia, Cholelithiasis |
OMIM:235700 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena... |
ORPHA:369837 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated a... |
ORPHA:171 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... |
OMIM:620242 |
| Infant Botulism |
|
Hyponatremia, Chronic otitis media, Anorexia, Dysphagia |
ORPHA:178478 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Sensorineural hearing impairm... |
OMIM:615438 |
| Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Nonketotic hypoglycem... |
ORPHA:20 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Posteriorly rotated ears, Cryptorchidism, Hydrocephalus, Microti... |
ORPHA:163979 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Flexion contracture, Optic atrophy, Increased intramyocellular lipid drop... |
OMIM:252011 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased circulating lactate dehydrogenase concentration, Portal vein thrombosis, Increased circ... |
ORPHA:3202 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Renal cyst, Multiple renal cysts, Decreased liver function, Failur... |
OMIM:614883 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Abetalipoproteinemia, Bull's eye maculopathy, Impulsivity, Optic atrophy, Depression, Pigmentary ... |
ORPHA:157850 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Wide nose, Anteverted nares, Obesity |
OMIM:619056 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Hypoalbuminemia... |
ORPHA:507 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy, Obesity |
OMIM:616562 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Small scrotum, Abnormal dental enamel morphology, Cryptorch... |
ORPHA:96263 |
| Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Low-set, posteriorly rotated ears, Failure to thrive in i... |
ORPHA:813 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Bilateral renal hypoplasia, Abnormality of skin pigmentation, Prematur... |
OMIM:619488 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity,... |
ORPHA:94065 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Pigmentary retinopathy, Nephroblastoma, Ascites, Enamel hypoplasia |
OMIM:253250 |
| Hsd10 Disease, Infantile Type |
|
Restlessness, Optic atrophy, Dysphagia, Rod-cone dystrophy, Paroxysmal bursts of laughter, Retina... |
ORPHA:391428 |
| Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Cholangitis, S... |
OMIM:613610 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
| Poretti-Boltshauser Syndrome |
|
Retinal thinning, Retinal atrophy, Retinal dystrophy |
OMIM:615960 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Martsolf Syndrome 2 |
|
Lateral ventricle dilatation, Broad nasal tip |
OMIM:619420 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Renal cyst, Increased circulating very long-chain fatty acid concentration, Death i... |
OMIM:614862 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Optic atrophy, Highl... |
OMIM:251900 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Hepatocellular necrosis, Recurrent hypog... |
OMIM:256810 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... |
OMIM:617547 |
| Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Mix... |
OMIM:620305 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Self-injurious behavior, Optic atrophy, Optic nerve hypoplasia |
OMIM:613638 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated hepati... |
OMIM:619355 |
| Exudative Vitreoretinopathy 6 |
|
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... |
OMIM:616468 |
| Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Increased circulating lactate dehydrogenase concent... |
OMIM:601775 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Elevated circulating creatinine c... |
OMIM:614376 |
| Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Postpran... |
ORPHA:681 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Congenital adrenal... |
OMIM:202010 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, H... |
ORPHA:540 |
| Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, Attention deficit hyperacti... |
ORPHA:284180 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Renal tubular acidosis, Transient hype... |
ORPHA:156 |
| Optic Atrophy-Intellectual Disability Syndrome |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Repetitive compulsive behavior, Optic atrophy, Pro... |
ORPHA:401777 |
| 2P15P16.1 Microdeletion Syndrome |
|
Decreased testicular size, Multicystic kidney dysplasia, Inguinal hernia, Optic nerve hypoplasia,... |
ORPHA:261349 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism, Lateral ventricle dilatation |
OMIM:616816 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Congenital hepatic fibrosis, Hea... |
ORPHA:2031 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Choroidal neovascularization, Elevated circulating C-reactive protein concentration, Anorexia, Re... |
ORPHA:91500 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, 3-Methylglut... |
ORPHA:496790 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Cholelithiasis |
ORPHA:822 |
| Rh Deficiency Syndrome |
|
Miscarriage, Jaundice, Hepatosplenomegaly, Hyperbilirubinemia, Increased circulating lactate dehy... |
ORPHA:71275 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Joint contracture, Elevated circulating creatine kinase concentration, Delayed puberty |
OMIM:615704 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, Attention ... |
OMIM:301039 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperammonemia, Hy... |
OMIM:615453 |
| Infantile Neuroaxonal Dystrophy |
|
Peripheral axonal neuropathy, Hyperactivity, Increased circulating lactate dehydrogenase concentr... |
ORPHA:35069 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,... |
ORPHA:730 |
| Microtriplication 11Q24.1 |
|
Wide nose, Obesity |
ORPHA:289522 |
| Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Chorioretinal hypopigmentation, Pheochromocytoma, Abnorma... |
ORPHA:805 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ... |
OMIM:617914 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Papilledema, Abnormality of retinal pigmentation, Inguinal hernia, Decreased iduron... |
OMIM:309900 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Recurrent urinary tract infections, Bone spicule pigmentation of the retina, Decreased sensory ne... |
OMIM:609033 |
| Fg Syndrome Type 1 |
|
Inguinal hernia, Hypospadias, Optic nerve hypoplasia, Progressive flexion contractures, Cryptorch... |
ORPHA:93932 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Miscarriage, Retinal pigment epithelial mottling, Chorior... |
ORPHA:448237 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lipodystrophy, Elevated circulating C-reactive protein concentration, Increased circulating IgA l... |
OMIM:618048 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Abnormality of the pancreas, Abnormal liver parenchyma morphology, ... |
ORPHA:3032 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuri... |
ORPHA:134 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Campomelic Dysplasia |
|
Depressed nasal bridge, Hydronephrosis, Ventriculomegaly, Abnormality of the sense of smell |
ORPHA:140 |
| 22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesi... |
ORPHA:567 |
| Cerebral Visual Impairment |
|
Optic disc pallor, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Retinopathy of prematuri... |
ORPHA:447788 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Increased circula... |
ORPHA:785 |
| Trisomy X |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Attention deficit hyperactivity disorder,... |
ORPHA:3375 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Flexion cont... |
ORPHA:367 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Bulbous nose, Obesity, Short nose, Tall stature |
OMIM:618430 |
| Vipoma |
|
Anorexia, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the live... |
ORPHA:97282 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Cryptorchidism, Truncal obesity, Microphallus |
OMIM:300957 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, External genital hypoplasia, Self-mutilation, Truncal obesit... |
ORPHA:3041 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalemia, Elevated gamma... |
OMIM:608885 |
| Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Low-set ears, Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypop... |
ORPHA:65288 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Bulbous nose, Lateral ventricle dilatation, Hypospadias |
OMIM:618330 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Ataxia, Depressed nasal bridge, Polyhydramnios, Hydrocephalus, Irritability, Colpocephaly, Gastro... |
OMIM:619833 |
| Fanconi Anemia, Complementation Group I |
|
Optic nerve hypoplasia, Decreased response to growth hormone stimulation test, Conductive hearing... |
OMIM:609053 |
| Meckel Syndrome 13 |
|
Occipital encephalocele, Flexion contracture, Retinopathy, Polycystic kidney dysplasia |
OMIM:617562 |
| Joubert Syndrome 7 |
|
Encephalocele, Retinal dystrophy, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis |
OMIM:611560 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Hypogonadotropic hypogonadism, Optic atrophy, Hypogonadism, ... |
ORPHA:1173 |
| Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
| Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Unilateral cryptorchidism, Optic nerve hypoplasia, Large for gestational age, Aplasia/Hypoplasia ... |
ORPHA:137634 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Optic disc pallor, Diabetes mellitus, Hypoglycemia, Optic... |
ORPHA:2609 |
| Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Optic disc coloboma, Optic nerve dysplasia, Re... |
ORPHA:1475 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Low-set ears, Multin... |
OMIM:236500 |
| Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Patchy atrophy of the retinal pigment epithelium, Rod-cone dystrophy, Broad columella, Underdevel... |
ORPHA:436245 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617388 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Large for gestational age, Obesity, Hydrocele testis, Overgrowth, Short nose |
OMIM:605309 |
| Essential Fructosuria |
|
Abnormal circulating enzyme concentration or activity, Abnormality of glycolipid metabolism, Abno... |
ORPHA:2056 |
| Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Ataxia, Anteverted nares, Stage 5 chronic kidney disease, Wide ... |
OMIM:608629 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
| Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
| Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis, Hyperbilirubinemia |
OMIM:182900 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Retinal dystrophy, Optic nerve hypoplasia, Chronic decreased circulating IgG1, Micropenis, Panhyp... |
OMIM:300953 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation, Multiple lipomas, Renal cell carcinoma, Parathyroid adenoma,... |
ORPHA:122 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Cimdag Syndrome |
|
Hepatomegaly, Death in early adulthood, Retinal dystrophy, Lipodystrophy, Microvesicular hepatic ... |
OMIM:619273 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Posteriorly rotated ears, Optic nerve hypoplasia, Cryptorchidism, Sens... |
OMIM:612513 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy, Hearing impairment, Dysphagia |
ORPHA:329336 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H... |
OMIM:610644 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated c... |
ORPHA:158061 |
| Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice |
OMIM:185000 |
| 8P11.2 Deletion Syndrome |
|
Depressed nasal bridge, Retinal dystrophy, Cryptorchidism, Anosmia, Azoospermia |
ORPHA:251066 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:600955 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Severe temper tantrums, Optic nerve hypoplasia, Attention deficit hyperactivity disorder |
OMIM:614306 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal circulating enzyme concentration or activity, Hyperactivity, Aggressive behavior, Abnorm... |
ORPHA:168491 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct mor... |
ORPHA:363618 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkaline phosphatas... |
OMIM:615363 |
| Yellow Fever |
|
Acute pancreatitis, Anuria, Renal insufficiency, Elevated circulating aspartate aminotransferase ... |
ORPHA:99829 |
| Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Glomerulonephritis, Elevated circulating ... |
ORPHA:1304 |
| Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Membranoproliferative glomerulonephr... |
ORPHA:48435 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis,... |
ORPHA:445038 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Increased circulating interleukin 6 concentration, Anuria, Diabetes mellitus, Hyper... |
ORPHA:544482 |
| Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Splenomegaly, Jaundice, White hair, Silver-gray hair, Hepatitis, Hyp... |
ORPHA:381 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Cryptorchidism, Anteverted nares, Depressed nasal ridge, Obesity |
ORPHA:464288 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Short attention span, Hyperactivity, Aggressive behavior, Depression, Irritability, Self-injuriou... |
ORPHA:449291 |
| Spherocytosis, Type 4 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:612653 |
| Pontocerebellar Hypoplasia, Type 13 |
|
Anteverted nares, Edema, Gait ataxia, Lateral ventricle dilatation, Constipation, Pleural effusio... |
OMIM:618606 |
| Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Obesity, Oligomenorrhea, Enamel hypoplasia, Polyphagia |
ORPHA:79444 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
| Cartilage-Hair Hypoplasia |
|
Low-set, posteriorly rotated ears, Hepatomegaly, Abnormality of retinal pigmentation, Aganglionic... |
ORPHA:175 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Hepatomegaly, Absent brainstem auditory responses, External geni... |
ORPHA:79330 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Partial agenesis of the corpus callosum, Abnormal medullary pyramid morphology, Lateral v... |
ORPHA:79243 |
| Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormality of the spleen... |
ORPHA:1834 |
| Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia, Hearing impairment |
OMIM:616672 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Depressed nasal bridge, Broad nasal tip, Long nose, Wide nasal bridge, Lateral ventric... |
OMIM:619995 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Retinal dystrophy, Obesity |
ORPHA:464282 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Irritability, Abnormality o... |
ORPHA:848 |
| Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Abnormality of centra... |
OMIM:277460 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Retinal atrophy, Elevated ci... |
ORPHA:2785 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... |
OMIM:266150 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Increased circulating ferritin concentration, Splenomegaly, Hypothyroidism, Hepatit... |
OMIM:615846 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Mixed hearing impairment, Aplasia of the thymus, Facial palsy, Progressive sensor... |
OMIM:620186 |
| Pmm2-Cdg |
|
Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Hype... |
ORPHA:79318 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Bruxism, Obesity, Truncal obesity,... |
OMIM:615873 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation, Hydrocephalus |
ORPHA:397951 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormality of the sense of smell |
ORPHA:958 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Protruding ear, Distal arthrogryposis, Congenital finger fle... |
OMIM:108145 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities |
|
Lateral ventricle dilatation, Dystonia |
OMIM:617668 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Nasal congestion, Optic disc pallor, Rod-cone dystrophy, Macular atrophy |
OMIM:615434 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Abnormality of retinal pigmentation, Splenomegaly, Hydrocephalus, Sensorineural hea... |
ORPHA:585 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Optic atrophy, Hyperglycinemia, Death in infancy |
OMIM:614299 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Hemoglobinuria, Unconjugated hyperbilirubinemia, Prolonged neonatal jaund... |
OMIM:300908 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... |
OMIM:241150 |
| Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Hyperbilirubinemia, Prolonged neonatal jaundice, Cholelithiasis, Neonatal... |
ORPHA:288 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated... |
OMIM:615688 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Death in infancy, Generalized hyperpigmentation, Renal hypop... |
ORPHA:2481 |
| Spherocytosis, Type 2 |
|
Splenomegaly, Jaundice, Hyperbilirubinemia |
OMIM:616649 |
| Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
| Syndromic Diarrhea |
|
Hepatomegaly, Hypopigmentation of hair, Inguinal hernia, Small for gestational age, Splenomegaly,... |
ORPHA:84064 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato... |
OMIM:276700 |
| 5Q14.3 Microdeletion Syndrome |
|
Abnormal repetitive mannerisms, Optic nerve hypoplasia |
ORPHA:228384 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Wide penis, Abnorma... |
ORPHA:3455 |
| Joubert Syndrome 2 |
|
Encephalocele, Renal insufficiency, Retinal dystrophy, Hydrocephalus, Optic disc coloboma, Renal ... |
OMIM:608091 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism, Macular degeneration, Choroidal neovascularization |
ORPHA:404451 |
| Igg4-Related Aortitis |
|
Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, Increase... |
ORPHA:449400 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Ectopic kidney, Delayed early-childhood social milestone development, Glucose intolerance, Hepati... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Ectopic kidney, Delayed early-childhood social milestone development, Glucose intolerance, Hepati... |
ORPHA:99228 |
| Monosomy X |
|
Ectopic kidney, Delayed early-childhood social milestone development, Glucose intolerance, Hepati... |
ORPHA:99226 |
| Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Abnormality of the pancreas, Decrea... |
OMIM:222470 |
| Holoprosencephaly 5 |
|
Depressed nasal bridge, Hydrocephalus, Anteverted nares, Lateral ventricle dilatation |
OMIM:609637 |
| Turner Syndrome |
|
Ectopic kidney, Delayed early-childhood social milestone development, Glucose intolerance, Hepati... |
ORPHA:881 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyper... |
OMIM:239200 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Death in infancy, Diabetes mellitus, Hypoglycemia, Optic ner... |
OMIM:609069 |
| Asparagine Synthetase Deficiency |
|
Optic nerve hypoplasia, Macrotia, Irritability, Failure to thrive, Hypoasparaginemia, Simple ear |
OMIM:615574 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Death in infancy, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, ... |
ORPHA:1194 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Stage 5 chronic kidney disease, Hyperammonemi... |
OMIM:251000 |
| Cockayne Syndrome A |
|
Abnormal peripheral myelination, Abnormality of skin pigmentation, Micropenis, Loss of facial adi... |
OMIM:216400 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Retinal detachment, Failure to thrive, Optic disc pallor, Hypospadias, Small for gestational age,... |
ORPHA:464311 |
| Genetic Recurrent Myoglobinuria |
|
Elevated hepatic transaminase, Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Renal cyst, Macular degeneration, Hepatic fibrosis, Nephronoph... |
OMIM:266920 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Anteverted nares, Obesity |
ORPHA:3191 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Hepatomegaly, Death in infancy, Splenomegaly, Hydrocephalus, Opt... |
OMIM:612301 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Death in infancy, Shoulder flexion contracture, Cryptorchidism, Hydrocephalus, F... |
OMIM:210710 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Anosmia, Single naris, Absent nares, Hyposmia |
ORPHA:2250 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Momo Syndrome |
|
Wide nasal bridge, Overgrowth, Obesity, Retinal coloboma |
OMIM:157980 |
| Cinca Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Retrobulbar op... |
ORPHA:1451 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... |
OMIM:246450 |
| Waardenburg Syndrome, Type 2E |
|
Anosmia, Hypopigmentation of the fundus, Ocular albinism |
OMIM:611584 |
| Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Proteinuria, Elevated circulatin... |
OMIM:614034 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abnormal temper ta... |
ORPHA:163681 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Decreased testicular size, Communicating hydrocephalus, Multicystic kidney dysplasia, Occipital e... |
OMIM:615287 |
| Al Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab... |
ORPHA:85443 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Renal agenesis, Hypercalcemia, Small for gestational age, Splenomegaly, Cryptorchid... |
OMIM:618440 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Decreased serum iron |
OMIM:212050 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Obesity, Protruding ear, Hypoplasia of the uterus, Increased serum testosterone l... |
ORPHA:247768 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Lateral ventricle dilatation |
OMIM:619972 |
| Postorgasmic Illness Syndrome |
|
Abnormality of the nose, Xerostomia, Hyperhidrosis, Depression, Irritability |
ORPHA:279947 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling, Restlessness, Death in childhood |
OMIM:619517 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Failure to thrive, Optic disc pallor, Hypospadias, ... |
OMIM:252010 |
| Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Optic nerve hypoplasia |
OMIM:218670 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Abnormal glycosphingoli... |
ORPHA:309263 |
| Pitt-Hopkins-Like Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Progressive language deterioration, Attention deficit hyperac... |
OMIM:610042 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Renal cyst, Horseshoe kidney, Intrahepatic biliary atresia, Camptodactyly |
OMIM:614815 |
| Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Hyperglycinuria, Hyperammo... |
OMIM:606054 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
| Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Alg2-Cdg |
|
Lateral ventricle dilatation, Wide nasal bridge |
ORPHA:79326 |
| Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Weight loss, Pigmentary retinopathy, Attention deficit hyperactivity disorder,... |
ORPHA:216866 |
| Somatostatinoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97283 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Small for gestational age, Prom... |
OMIM:216550 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Death in infancy, Hypoglycemia, Elevated circulating aspartate ... |
OMIM:608779 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Lateral ventricle dilatation, Vomiting |
ORPHA:77299 |
| Retinitis Pigmentosa 23 |
|
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... |
OMIM:300424 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Abnormal vestibular function, Peripheral axonal neuropathy, Retinal pigment epithelial mottling, ... |
OMIM:607459 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Death in infancy, Thyroid lymphangiectasia, Splenomegaly, Pancreat... |
OMIM:235255 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Aggressiv... |
ORPHA:85293 |
| Ppoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97278 |
| Diprosopus |
|
External ear malformation, Abnormality of retinal pigmentation, Anencephaly |
ORPHA:1681 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Retinal atrophy, Hypogonadism, Infertility, Oligomenorrhea, Dysphagia, Delayed menarche |
ORPHA:412057 |
| Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Cryptorchidism, Obesity, Proportionate tall stature, Umbilical hernia |
ORPHA:404443 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Hepatosplenomegaly, Ascites, Polycystic kidney dysplasia, Low-set ears, Failure to ... |
OMIM:608776 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Increased total bilirubin |
ORPHA:90036 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... |
ORPHA:897 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Joubert Syndrome 35 |
|
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Low-set ears, R... |
OMIM:618161 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Septo-optic dysplasia, Cryptorchidism, Hydrocephalus, Optic atrophy... |
ORPHA:3301 |
| Melas |
|
Hypoparathyroidism, Peripheral axonal neuropathy, Diabetes mellitus, Proteinuria, Hypogonadotropi... |
ORPHA:550 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
| Oculocutaneous Albinism Type 1 |
|
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... |
ORPHA:352731 |
| Tick-Borne Encephalitis |
|
Elevated hepatic transaminase, Facial palsy, Elevated circulating C-reactive protein concentratio... |
ORPHA:297 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Hypospadias, Abnormal pinna morphology, Malformation of the hepatic duct... |
OMIM:614175 |
| Momo Syndrome |
|
Large for gestational age, Obesity, Overgrowth, Chorioretinal coloboma, Wide nasal base, Tall sta... |
ORPHA:2563 |
| Amoebiasis Due To Free-Living Amoebae |
|
Ataxia, Abnormal hypothalamus morphology, Irritability, Vomiting, Hyposmia, Nausea, Cerebral edema |
ORPHA:68 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Colpocephaly, Anteverted nares |
OMIM:618731 |
| Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration |
OMIM:200100 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Truncal obesity, Hypogonadism, Camptodactyly ... |
ORPHA:127 |
| Atelis Syndrome 2 |
|
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:620185 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Obesity, Underdeveloped nasal alae |
OMIM:608624 |
| Developmental And Epileptic Encephalopathy 31B |
|
Opisthotonus, Irritability, Colpocephaly, Constipation, Agenesis of corpus callosum, Ventriculome... |
OMIM:620352 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... |
ORPHA:98794 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Cholecystitis, Bilatera... |
ORPHA:309256 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Bilateral cryptorchidism, Decreased testicular size, Partial anosmia, Total anosmia |
ORPHA:2326 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Cryptorchidism, Polyphagia, Obesity, O... |
ORPHA:1606 |
| Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Hydrocephalus, Symmetrical progressive ... |
OMIM:231670 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Hepatomegaly, Dysgammaglobulinemia, Impaired Ig class switch rec... |
OMIM:308230 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Joubert Syndrome 8 |
|
Hepatomegaly, Optic disc pallor, Occipital encephalocele, Obesity, Pigmentary retinopathy, Prolon... |
OMIM:612291 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Lateral ventricle dilatation, Wide nasal bridge, Short nose, Broad nasal tip |
OMIM:615716 |
| Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior |
ORPHA:391307 |
| Digeorge Syndrome |
|
Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t... |
OMIM:188400 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Sensorineural hearing impai... |
OMIM:616263 |
| Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Obesity, Oligomenorrhea, Enamel hypoplasia, Polyphagia |
ORPHA:79443 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Prominent nose, Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Agenesis o... |
OMIM:619244 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment |
ORPHA:309246 |
| Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati... |
OMIM:602200 |
| Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... |
ORPHA:206436 |
| Multiple Myeloma |
|
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... |
ORPHA:29073 |
| Metachromatic Leukodystrophy, Adult Form |
|
Urinary incontinence, Decreased nerve conduction velocity, Optic atrophy, Depression, Abnormal gl... |
ORPHA:309271 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Macular scar, Angioid streaks of the fundus, Failure to thrive, Retinopathy, Retinal degeneration |
OMIM:239000 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Oroticaciduria, Chorioretinal atr... |
ORPHA:415 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... |
OMIM:617805 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| Cockayne Syndrome B |
|
Abnormal peripheral myelination, Abnormality of skin pigmentation, Death in childhood, Micropenis... |
OMIM:133540 |
| Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Retinal degeneration |
OMIM:616896 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Lateral ventricle dilatation, Urinary incontinence, Euphoria |
OMIM:221770 |
| Mepan Syndrome |
|
Abnormality of visual evoked potentials, Failure to thrive, Optic atrophy, Dysphagia |
ORPHA:508093 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| X-Linked Adrenoleukodystrophy |
|
Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi... |
ORPHA:43 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Small for gestational age, Patent urachus, Death in childhood, Failure to thrive |
OMIM:618252 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Decreased body weight, Obesity, Dysphagia |
ORPHA:589821 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Adrenomyodystrophy |
|
Generalized hyperpigmentation, Primary adrenal insufficiency, Megacystis, Abnormality of the urin... |
ORPHA:977 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Optic nerve hypoplasia, Irritability, Joint contracture, Macrotia |
OMIM:617864 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Elevated uri... |
ORPHA:892 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Renal cyst, Otitis media, Conductive hearing imp... |
OMIM:122470 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Desmoid Tumor |
|
Abnormality of retinal pigmentation, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Low-set, posteriorly rotated ears, Optic disc pallor, Multiple joint contractures, Hypospadias, O... |
ORPHA:468631 |
| Glucagonoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Depression, Increased circulating cortisol level, ... |
ORPHA:97280 |
| Radio-Tartaglia Syndrome |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Bulbous nose, Wide nasal bridge... |
OMIM:619312 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
| Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Sensorineural hearing impairment, Nephrolit... |
ORPHA:18 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Abnormality of retinal pigmentation, Proteinuria, Abnormal r... |
ORPHA:2715 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Flexion contracture, Larg... |
OMIM:263210 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short nose, Wide nasal bridge, Overgrowth, Obesity |
OMIM:620250 |
| Kleefstra Syndrome 1 |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Micropenis, Abno... |
OMIM:610253 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Crimean-Congo Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Increased circulating IgG level, Ch... |
ORPHA:99827 |
| Bilateral Generalized Polymicrogyria |
|
Oculogyric crisis, Oral-pharyngeal dysphagia, Lateral ventricle dilatation, Gastroesophageal refl... |
ORPHA:208447 |
| Grfoma |
|
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increase... |
ORPHA:97261 |
| Beta-Thalassemia Major |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Hepatocellular... |
ORPHA:231214 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Hearing abnormality, Multicystic kidney dysplasia, Protruding ear |
ORPHA:3270 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
| Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia |
OMIM:618890 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Splenomegaly, Hyperlipidemia, Jaundice,... |
ORPHA:79477 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hepatic necrosis, Hypoglycemic seizures, Decrea... |
OMIM:231530 |
| Glutamine Deficiency, Congenital |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Subependymal cysts, Lateral ventricl... |
OMIM:610015 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Branchiootorenal Syndrome 1 |
|
Branchial cyst, Conductive hearing impairment, Vesicoureteral reflux, Branchial fistula, Facial p... |
OMIM:113650 |
| Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, True hermaphroditism, Septate v... |
OMIM:194080 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Urinary incontinence, Predominantly lower limb lymphedema, Depression, He... |
ORPHA:314404 |
| Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidne... |
OMIM:613390 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Hepatomegaly, Hip contracture, Bilateral fetal pyelectasis, Death i... |
OMIM:300868 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Peripheral axonal neuropathy, Hydrocele testis, Hypocholesterolemia, Neonatal death... |
OMIM:618810 |
| Immunodeficiency 32B |
|
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Hypoalbuminemia, Abnormal circulating IgG l... |
OMIM:226990 |
| Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Anorexia, Weight loss, Elevated... |
ORPHA:732 |
| Moebius Syndrome |
|
Facial palsy, Abnormality of the sense of smell |
ORPHA:570 |
| Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication... |
OMIM:215700 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Cholestasis, Periportal fibrosis, Polycystic... |
OMIM:615382 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Failure to thrive, Increased circulating IgA level, Splenomegaly, Hepatosplenomegaly, Increased c... |
OMIM:618534 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Abnormal immunoglobulin level, Increased circulating IgE level, ... |
ORPHA:98813 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Decreased serum insu... |
ORPHA:77293 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... |
OMIM:617600 |
| Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia, Optic atrophy, Abnormality of the urinary system, Abnorma... |
ORPHA:702 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Optic atrophy, Impaired social interactions, Abnormality of ... |
OMIM:256600 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Maternal diabetes, Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnorma... |
ORPHA:1988 |
| Chromosome 17Q12 Deletion Syndrome |
|
Elevated hepatic transaminase, Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent... |
OMIM:614527 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Underdeveloped nasal alae, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Broad columell... |
OMIM:250410 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Sensorineural hearing impairme... |
OMIM:220500 |
| Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Abnormal mesentery morphology,... |
ORPHA:284 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Optic atrophy, Hepatosplenomegaly, Umbi... |
ORPHA:93399 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Increased circulating IgM level... |
ORPHA:397596 |
| Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Prominent nose, Abnormal preputium morphology, Bulbous nose, Choroid plexus cyst, Glandular hypos... |
ORPHA:293725 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Cryptorchidism, Protruding ear, Multip... |
ORPHA:1166 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Septate vagina, Lop ear, Spina... |
OMIM:300707 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Lateral ventricle dilatation, Vomiting, Distal sensory impairment |
OMIM:256850 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Optic nerve hypoplasia, Unilateral renal agenesis, Decreased ... |
ORPHA:221139 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Adams-Oliver Syndrome 2 |
|
Depressed nasal bridge, Bulbous nose, Hydrocephalus, Lateral ventricle dilatation, Oligohydramnios |
OMIM:614219 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, Ataxia, Cryptorchidism, Ileus, Anosmia, Distal sensory impairment, Hypohidrosis |
OMIM:609136 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
| Tatton-Brown-Rahman Syndrome |
|
Vesicoureteral reflux, Umbilical hernia, Optic nerve hypoplasia |
OMIM:615879 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Retinal dystrophy |
ORPHA:370022 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma |
OMIM:144010 |
| Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:887 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Fail... |
OMIM:614602 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Ambiguous genitalia, Clitoral hypertrophy, Hypospadias, Elevat... |
ORPHA:90797 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Miscarriage, Retinitis, Anorexia, Jaundice, Vertigo, Hepatitis, Re... |
ORPHA:319251 |
| Burning Mouth Syndrome |
|
Impaired temperature sensation, Dysesthesia, Xerostomia, Depression, Emotional lability |
ORPHA:353253 |
| Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Neurogenic bladder, Abnormal repetitive mannerisms, Optic nerve hypoplasia, Dysphagia |
ORPHA:572013 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Gastroesophageal reflux, Lateral ventricle dilatation, Ataxia, Dystonia |
OMIM:617854 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Polyhydramnios, Partial agenesis of the co... |
OMIM:617296 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Failure to thrive, Hyperactivity, Hypospadias, Small for gestational age, Unil... |
ORPHA:464306 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Sensorineural hearing impairment, Renal hypoplasia, Renal cyst, Corneal sca... |
OMIM:618460 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Macrotia |
ORPHA:168577 |
| Biotinidase Deficiency |
|
Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia, Orga... |
OMIM:253260 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Abnormal dental enamel morphology, Amelogenes... |
ORPHA:1873 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia, Cardiomegaly, Hydrocephalus, Optic atrophy, Renal cyst, Polycystic ov... |
ORPHA:137675 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Camptodactyly of toe, Umbilical hern... |
OMIM:175700 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Flexion contracture, Optic nerve hypoplasia, Decreased body weight |
OMIM:614833 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Aggressive behavior, Cryptorchidism, Patchy hypo- and hyperpigmentation, Compulsive ... |
ORPHA:163956 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Optic nerve hypoplasia, Sensorineural hearing impairment, Delayed early-childhood social mileston... |
ORPHA:300570 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Polycystic kidney dysplasia, Low-set ears, Ambiguous geni... |
OMIM:613885 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Holoprosencephaly, Low-set, posteriorly rot... |
ORPHA:818 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Premature ovarian insufficiency, Hypospadias, Bilateral cryptorchidism, Contractures of the large... |
ORPHA:96179 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Waardenburg Syndrome, Type 4C |
|
Aganglionic megacolon, Cryptorchidism, Anosmia |
OMIM:613266 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Small scrotum, Posteriorly rotated ears, Congenital diaphragmatic h... |
OMIM:618454 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Prominent nose, Cryptorchidism, Obesity, Prominent nasal tip, Short nose |
ORPHA:439822 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Failure to thrive |
OMIM:615085 |
| Mucopolysaccharidosis Type 3 |
|
Cardiomegaly, Flexion contracture, Otitis media, Conductive hearing impairment, Chronic otitis me... |
ORPHA:581 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Optic nerve hypoplasia |
OMIM:618736 |
| Amish Lethal Microcephaly |
|
Hepatomegaly, Death in infancy, Spina bifida, Optic atrophy, Irritability, Organic aciduria |
ORPHA:99742 |
| Gaucher Disease |
|
Hepatomegaly, Death in infancy, Proteinuria, Elevated circulating C-reactive protein concentratio... |
ORPHA:355 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Glue ear, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Symme... |
ORPHA:206594 |
| Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Ac... |
ORPHA:416 |
| Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
| Prolidase Deficiency |
|
Hepatomegaly, Recurrent cystitis, Abnormality of retinal pigmentation, Splenomegaly, White forelo... |
ORPHA:742 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response ... |
OMIM:182230 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... |
OMIM:615356 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Nail-biting, Small scrotum, Posteriorly rotated ears, Optic nerve hypopla... |
OMIM:620330 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:207900 |
| Mucopolysaccharidosis Type 2 |
|
Communicating hydrocephalus, Conductive hearing impairment, Abnormal repetitive mannerisms, Oppos... |
ORPHA:580 |
| Spastic Paraplegia 15, Autosomal Recessive |
|
Macular degeneration, Retinal degeneration |
OMIM:270700 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level, Testicular ne... |
ORPHA:99429 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Decreased circulating cortisol level, Hyperpigmentation of the skin, Opt... |
OMIM:231550 |
| Pagod Syndrome |
|
Encephalocele, Omphalocele, Multicystic kidney dysplasia, Death in infancy, Spina bifida, Renal h... |
ORPHA:991 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hyposmia, Cryptorchidism, Obesity |
OMIM:618653 |
| Trisomy 18 |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Omphalocele, Camptodactyl... |
ORPHA:3380 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Increased circulating IgG level, Increased circulating IgM level, Death... |
OMIM:619220 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Retinal degeneration, Dysphagia |
ORPHA:2822 |
| Renal Tubular Dysgenesis |
|
Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts |
ORPHA:3033 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob... |
OMIM:619127 |
| D-2-Hydroxyglutaric Aciduria 1 |
|
Glutaric aciduria, Subependymal cysts, D-2-hydroxyglutaric aciduria, Lateral ventricle dilatation... |
OMIM:600721 |
| Indomethacin Embryofetopathy |
|
Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology |
ORPHA:1909 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Death in infancy, Hypokalemia, Death in childhood, Failure to thrive |
OMIM:618426 |
| Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal... |
ORPHA:391665 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... |
OMIM:616959 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Birdshot Chorioretinopathy |
|
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters |
OMIM:605808 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Hypospadias, Anteverted nares, Prominent nasal bridge, Lateral ventricl... |
OMIM:617751 |
| Pituitary Stalk Interruption Syndrome |
|
Death in infancy, Hypoplasia of penis, Septo-optic dysplasia, Hypoglycemia, Ectopic posterior pit... |
ORPHA:95496 |
| Meckel Syndrome, Type 9 |
|
Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia |
OMIM:614209 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Thickened helices, Aggressive behavior, Cr... |
ORPHA:261494 |
| Malan Overgrowth Syndrome |
|
Episodic ataxia, Lateral ventricle dilatation, Depressed nasal bridge, Ventriculomegaly |
ORPHA:420179 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Hypoglycemia, Microvesicu... |
OMIM:611126 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Increased circulating IgM level, Cellulitis, Decreased circulating IgG2 level, Decr... |
OMIM:615513 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Depressed nasal bridge, Obesity, Broad nasal tip |
OMIM:619680 |
| Cardiofaciocutaneous Syndrome 4 |
|
Cafe-au-lait spot, Multiple lentigines, Optic nerve hypoplasia, Decreased response to growth horm... |
OMIM:615280 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Anosmia |
OMIM:619718 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal t... |
ORPHA:904 |
| Igg4-Related Pachymeningitis |
|
Elevated circulating C-reactive protein concentration, Increased circulating IgG4 level, Abnormal... |
ORPHA:449427 |
| Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears, Hyperpigmented nevi, Ethmoidal en... |
OMIM:607597 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Eye poking,... |
OMIM:613843 |
| Weiss-Kruszka Syndrome |
|
Anteverted nares, Colpocephaly, Short nose, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:618619 |
| Argininemia |
|
Hepatomegaly, Hyperactivity, Anorexia, Micronodular cirrhosis, Hyperammonemia, Cholestasis, Irrit... |
OMIM:207800 |
| White-Sutton Syndrome |
|
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... |
ORPHA:468678 |
| Genitopalatocardiac Syndrome |
|
Low-set ears, Gonadal dysgenesis, male, Hypospadias, Renal cyst |
OMIM:231060 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Increased circulating IgE level, Increas... |
OMIM:617241 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Asplenia, Ambiguous gen... |
OMIM:249000 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Cryptorchidism, Obesity, Failure to thrive,... |
ORPHA:96147 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Hepatomegaly, Inguinal hernia, Abnormality of the kidney, Hydrocephalus,... |
ORPHA:93400 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Weight loss, Attention def... |
ORPHA:251071 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Decreased serum estradiol, Decreased circulating androgen concentration... |
ORPHA:90796 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, F... |
OMIM:617591 |
| Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Optic nerve hypoplasia, Low-set ears |
OMIM:618381 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
| Primary Sjögren Syndrome |
|
Renal insufficiency, Chronic active hepatitis, Abnormality of the kidney, Glomerulonephritis, Abn... |
ORPHA:289390 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:300573 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Polyhydramnios, Bilateral cryptorchidism, Dysplastic corpus callosum, Bulbous nose, Increased nuc... |
ORPHA:544488 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Aggressive ... |
OMIM:607872 |
| Carpenter Syndrome 1 |
|
Omphalocele, External genital hypoplasia, Precocious puberty, Cryptorchidism, Optic atrophy, Obes... |
OMIM:201000 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Limb joint contracture, Optic atrophy, Pigmentary retinopathy, Dysphagia, Fail... |
OMIM:617282 |
| Androgen Insensitivity Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Blind vagina, Elevated circulati... |
OMIM:300068 |
| Spastic Paraplegia 54, Autosomal Recessive |
|
Optic nerve hypoplasia, Urinary incontinence, Dysphagia |
OMIM:615033 |
| Focal Dermal Hypoplasia |
|
Acute hepatic failure, Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Abnormal denta... |
ORPHA:2092 |
| Achondroplasia |
|
Depressed nasal bridge, Short nasal bridge, Anteverted nares, Obesity |
ORPHA:15 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Abnormal nasal morphology, Truncal obesity |
ORPHA:3224 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Desbuquois Dysplasia 1 |
|
Short nose, Concave nasal ridge, Depressed nasal bridge, Obesity |
OMIM:251450 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98855 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Splenomegaly, Sensorineural hearing impairment, Optic atr... |
OMIM:615636 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Hydrocephalus, Hypocalcemia, Otitis media, Hypophosphatemia, Abnormal... |
ORPHA:667 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Sensorineural hearing impairment, Primary adrenal insuffic... |
OMIM:530000 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Abnormal circulating enzyme concentration or activity, Optic neuropathy, Abnor... |
ORPHA:909 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Macular degeneration, Abnormality of macular pigmentation |
ORPHA:1573 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Abnormal helix morphology |
ORPHA:1259 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hyperactivity, Inguinal hernia, Optic nerve hypoplasia, Unilateral renal agenesis, Hydrocephalus,... |
ORPHA:457284 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated ... |
ORPHA:565612 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Increased circulating IgG level, ... |
OMIM:618495 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Malformation of the hepatic ductal plat... |
OMIM:208540 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Recurrent upper respiratory tract infections, Lateral ventricle dilatat... |
ORPHA:3078 |
| Classic Homocystinuria |
|
Elevated hepatic transaminase, Hepatomegaly, Retinal detachment, Abnormality of retinal pigmentat... |
ORPHA:394 |
| Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Failure to thrive in infancy, Crypt... |
ORPHA:193 |
| Rh-Null, Regulator Type |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:268150 |
| Lissencephaly Due To Tuba1A Mutation |
|
Aganglionic megacolon, Optic nerve hypoplasia |
ORPHA:171680 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Death in infancy, Elevated circulating C-reactive protein concentration, Death in c... |
OMIM:619423 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dilated fourth ventricle, Ataxia, Tremor, Wide nasal bridge, Dysmetria, Dysphagia, Athetosis, Lat... |
ORPHA:572798 |
| Joubert Syndrome 6 |
|
Retinal degeneration, Abnormal repetitive mannerisms, Chorioretinal coloboma |
OMIM:610688 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Optic nerve hypoplasia, Sensorineural hearing impairment, Retinal coloboma, De... |
OMIM:300749 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Restless legs, Optic nerve hypoplasia, Urinary incontinence,... |
ORPHA:101085 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Igg4-Related Ophthalmic Disease |
|
Cholangitis, Elevated circulating C-reactive protein concentration, Abnormality of the kidney, Re... |
ORPHA:449563 |
| Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... |
OMIM:619525 |
| Distal Triplication 15Q |
|
Abnormal external genitalia, Abnormality of the kidney, Large for gestational age, Hydrocephalus,... |
ORPHA:314588 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal circulating enzyme concentration or acti... |
ORPHA:206443 |
| Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia, Failure to thrive in infancy, Posteriorly rotated ears, Protruding ... |
OMIM:618829 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
| Classic Galactosemia |
|
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... |
ORPHA:79239 |
| Waardenburg Syndrome |
|
Hypopigmentation of hair, Aganglionic megacolon, Myelomeningocele, Hypopigmented skin patches, Ab... |
ORPHA:3440 |
| Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 2nd toe, Retinal detachment, Remnants of... |
OMIM:300166 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Truncal obesity, Agitation, Decreased body we... |
OMIM:270450 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy, Ganglioside accumulation |
ORPHA:578 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Friedreich Ataxia |
|
Diabetes mellitus, Optic atrophy, Decreased pyruvate carboxylase activity, Abnormality of visual ... |
OMIM:229300 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Peripheral axonal neuropathy, Neonatal insulin-dependent diabetes m... |
ORPHA:99885 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Small for gestation... |
OMIM:277380 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Failure to th... |
ORPHA:261197 |
| Stromme Syndrome |
|
Accessory spleen, Optic nerve hypoplasia, Hydrocephalus, Bilateral renal hypoplasia, Stillbirth, ... |
OMIM:243605 |
| Meacham Syndrome |
|
Accessory spleen, Death in infancy, Aplasia of the right hemidiaphragm, Septate vagina, Male pseu... |
OMIM:608978 |
| Pseudohypoparathyroidism, Type Ic |
|
Depressed nasal bridge, Obesity |
OMIM:612462 |
| 2Q37 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Broad columella |
ORPHA:1001 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
| Axial Spondylometaphyseal Dysplasia |
|
Rod-cone dystrophy, Optic atrophy, Peripheral retinal degeneration, Retinal dystrophy |
ORPHA:168549 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Lateral ventricle dilatation, Depressed nasal bridge |
ORPHA:284417 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Occipital encephalocele, Renal insufficiency, Low-set, posteriorly... |
ORPHA:397715 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Hydrocephalus, Ileus, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:620156 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Sensorineural hearing impairment, Opt... |
OMIM:268315 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr... |
ORPHA:564 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Renal agenesis, Hypospadias, Optic nerve hypoplasia, Facial palsy, Spina bifida, Hearing impairme... |
ORPHA:508498 |
| Multiple Sulfatase Deficiency |
|
Anteverted nares, Retinal degeneration |
OMIM:272200 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub... |
OMIM:610205 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep... |
OMIM:619229 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Hepatos... |
OMIM:618982 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Polyhydramnios, Cryptorchidism, Dysphagia, Opisthotonus, Lateral ventricle dilatation, Limb dysto... |
OMIM:619847 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98863 |
| Infantile Spasms-Broad Thumbs Syndrome |
|
Optic disc pallor, Vaginal hernia |
ORPHA:3173 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Achilles tendon contracture, Elbow flexion contracture, Obesity, Decreased cervica... |
ORPHA:98853 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Decreased ... |
OMIM:608106 |
| Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Flexion contracture, Optic atrophy, Renal cortical cysts, Failure to thrive |
OMIM:609180 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... |
ORPHA:829 |
| Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
| Insulin-Like Growth Factor I Deficiency |
|
Short attention span, Hyperactivity |
OMIM:608747 |
| Congenital Erythropoietic Porphyria |
|
Hypopigmentation of the skin, Scarring, Increased connective tissue, Abnormal circulating porphyr... |
ORPHA:79277 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protein concentratio... |
OMIM:617099 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... |
ORPHA:308552 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Inguinal hernia, Ketonuria, Hypospadias, Small for gestational age, Hypoglycemi... |
OMIM:220111 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Protruding ear |
ORPHA:2518 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity |
OMIM:615418 |
| Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... |
ORPHA:537 |
| Pseudohypoparathyroidism, Type Ia |
|
Enamel hypoplasia, Hypogonadism, Obesity |
OMIM:103580 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Optic atrophy, Depressed nasal bridge, Obesity |
OMIM:618493 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, Enamel hypoplasia, Ureteropelvic junction obstruction, Rod-cone dystrophy,... |
OMIM:300896 |
| Werner Syndrome |
|
Convex nasal ridge, Retinal degeneration |
OMIM:277700 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Atelosteogenesis Type I |
|
Multiple renal cysts, Abnormal pancreatic duct morphology, Retinal dysplasia, Low-set ears |
ORPHA:1190 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Abnormal internal genitalia, Occipital encephalocele, Hydrocephalus, Anenceph... |
OMIM:612284 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
| Congenital Macroglossia |
|
Neurofibroma, Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Trisomy 20P |
|
Low-set, posteriorly rotated ears, Inguinal hernia, Hypospadias, Abnormality of the kidney, Spina... |
ORPHA:261318 |
| Distal Deletion 12Q |
|
Ectopic kidney, Biliary atresia, Vesicoureteral reflux, Micropenis, Self-mutilation, Hyperactivit... |
ORPHA:96149 |
| Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Death in early adulthood, Sensorineural hearing impairment, ... |
ORPHA:192 |
| Proteus Syndrome |
|
Central heterochromia, Neoplasm of the thymus, Renal cyst, Abnormality of skin pigmentation, Chor... |
ORPHA:744 |
| X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Hyperactivity, Aggressive behavior |
ORPHA:85327 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation, Camptodactyly of finger |
ORPHA:2521 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Inc... |
OMIM:601859 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Anorexia, Increased circulating ... |
ORPHA:97287 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Choles... |
ORPHA:440713 |
| 19P13.13 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Macrotia, Optic atrophy, Low-set ears, Attention deficit hyperactivity di... |
ORPHA:357001 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Hiatus hernia, Precocious puberty, Optic... |
ORPHA:50 |
| Craniosynostosis 6 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:616602 |
| Down Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Depressed nasal ridge, Obesity, Short nose |
ORPHA:870 |
| Hurler Syndrome |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Wide nasal bridge, Retinal degeneration |
OMIM:607014 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
| Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Macular degeneration, Dysphagia |
OMIM:619780 |
| Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Spina bifida, Asplenia, Cryptorchidism, Horseshoe k... |
ORPHA:99776 |
| Pseudo-Torch Syndrome 2 |
|
Lateral ventricle dilatation, Abnormal renal corticomedullary differentiation, Pleural effusion, ... |
OMIM:617397 |
| Tuberous Sclerosis 1 |
|
Dental enamel pits, Precocious puberty, Renal cyst, Achromatic retinal patches, Renal cell carcin... |
OMIM:191100 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, ... |
ORPHA:64744 |
| Cog5-Cdg |
|
Neurogenic bladder, Urinary incontinence, Prominent nose, Cryptorchidism, Wide nasal bridge, Late... |
ORPHA:263487 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Chorioretinal dysplasia, Congenital diaphragmatic hernia, Epispadias, Vitritis, Abnormality of th... |
ORPHA:2556 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Occipital encephalocele, Malformation of the hepatic ... |
OMIM:607361 |
| Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Retinal hamartoma, Precocious puberty, Renal c... |
OMIM:613254 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Prominent nasal bridge, Anteverted nares, Obesity |
OMIM:618443 |
| Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Abnor... |
ORPHA:2075 |
| Cone-Rod Dystrophy And Hearing Loss 1 |
|
Macular degeneration, Retinal atrophy |
OMIM:617236 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Flexion contracture, Retinal degeneration |
OMIM:615249 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Bone spicule pigmentation of the retina, Flexion contracture of finger, Axonal degeneration, Pigm... |
ORPHA:88628 |
| Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Macular dystrophy, Enamel ... |
OMIM:234580 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd... |
ORPHA:3411 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Bulbous nose, Colpocephaly, Agenesis of corpus callos... |
OMIM:615219 |
| Paganini-Miozzo Syndrome |
|
Lateral ventricle dilatation, Urinary incontinence |
OMIM:301025 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Hypercalciuria, Renal cyst, Nephrocalc... |
OMIM:615398 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Enlarged polycystic ovaries, Abnormality of th... |
ORPHA:2869 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Cryptorchidism, Anosmia, Choanal atresia, Aplasia of the nose |
OMIM:603457 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation |
OMIM:603194 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Hyperactivity, Small for gestational age, Abnormalit... |
ORPHA:508488 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Optic nerve hypoplasia, Aggressive behavior, Cryptorchidism, Hypoplastic labia minor... |
ORPHA:495875 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Posteriorly rotated ears, Hydrocephalus, Sensorineural hearing impairment, Pigmentary retinopathy... |
OMIM:612582 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Hypothyroidism, Decreased circulating antibody level, Hypoalbuminemia, Ascites, Hyp... |
OMIM:226300 |
| Simple Cryoglobulinemia |
|
Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno... |
ORPHA:91139 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Hepatic fibrosis, Polycystic kidney dysplasia, Ascites |
OMIM:614091 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Spinocerebellar Ataxia Type 7 |
|
Cone/cone-rod dystrophy, Restless legs, Abnormal fundus morphology, Macular degeneration, Dysphag... |
ORPHA:94147 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level |
OMIM:615767 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Failure to thrive, Elevated circulating C-reactive protein conce... |
OMIM:615934 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Elevated circulating creatine kinase concentration, Death in infancy |
OMIM:619424 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati... |
OMIM:615415 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Sensorineural hearing impairment, Microtia, Hepatic steatosis |
OMIM:275630 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Cryptorchidism, Decreased fertility, Obesity, Abnor... |
ORPHA:3138 |
| Aceruloplasminemia |
|
Retinal degeneration |
OMIM:604290 |
| Scorpion Envenomation |
|
Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Eleva... |
ORPHA:466677 |
| Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Abnormal pinna morphology, Camptodactyly of finger, Congenital dia... |
ORPHA:1692 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Death in infancy, Copper accumulation in liver, Death in childhood, Aminoaciduria, Elevated hepat... |
OMIM:614946 |
| Bor Syndrome |
|
Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia... |
ORPHA:107 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Retinal pigment epithelial mottling, Low-set ears |
OMIM:617102 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| Schinzel-Giedion Syndrome |
|
Renal cyst, Hepatoblastoma, Micropenis, Streak ovary, Hypospadias, Abnormal cochlea morphology, A... |
ORPHA:798 |
| Leptospirosis |
|
Hepatomegaly, Papilledema, Macular cotton wool spot, Anorexia, Cellular urinary casts, Jaundice, ... |
ORPHA:509 |
| Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Congenital sensorineural hearing ... |
OMIM:193500 |
| Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
| Aspergillosis |
|
Increased circulating IgE level, Vitritis, Hepatitis, Abnormality of the kidney |
ORPHA:1163 |
| Coccidioidomycosis |
|
Renal insufficiency, Abnormal sperm morphology, Abnormality of the kidney, Abnormal retinal morph... |
ORPHA:228123 |
| Usher Syndrome |
|
Abnormal vestibular function, Abnormality of retinal pigmentation, Abnormal dental enamel morphol... |
ORPHA:886 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive in infancy, Decreased lymphocyte proliferation in response to anti-CD3, Increas... |
OMIM:606367 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Hypergly... |
OMIM:251110 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Pseudob... |
OMIM:125310 |
| Schnitzler Syndrome |
|
Splenomegaly, Hepatomegaly, Increased circulating IgM level |
ORPHA:37748 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
| Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Compulsive behaviors, Decreased amplitude of ... |
ORPHA:2388 |
| Spondyloenchondrodysplasia |
|
Abnormal lateral ventricle morphology, Proteinuria, Decreased response to growth hormone stimulat... |
ORPHA:1855 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Increased connective tissue, Flexion contracture, Highly elevated creatine kinase, ... |
ORPHA:258 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Large for gestational age, Macrotia, Sensorineural hearing im... |
OMIM:617107 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Hepatomegaly, Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, ... |
OMIM:269860 |
| Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Retinal dystrophy, Decreased nerve conduction velocity, Sensorineural hearing impai... |
OMIM:614863 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Chorioretinal colo... |
ORPHA:857 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Trisomy 1Q |
|
Omphalocele, Multicystic kidney dysplasia, Small scrotum, Camptodactyly of finger, Congenital dia... |
ORPHA:261344 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Hypospadias, Posteriorly rotated ears, Abnormal pinna morphology, Cryptorchidism, Sensorineural h... |
OMIM:616975 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Bile duct proliferation |
OMIM:611134 |
| Mannosidosis, Alpha B, Lysosomal |
|
Depressed nasal ridge, Retinal degeneration |
OMIM:248500 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Attention d... |
OMIM:616078 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Long nose, Bulbous nose, Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpu... |
OMIM:620113 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, 3-Methylglutaconic aciduria, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Dysphagia, Abnormality of ... |
ORPHA:485421 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Retinal detachment, Retinal dystrophy, Macular atrophy, Corneal scarring, Chorioretinal coloboma |
OMIM:212550 |
| Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Renal cyst, Hepatic cysts |
OMIM:263630 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aciduria, ... |
OMIM:203700 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:300578 |
| Microphthalmia, Isolated 8 |
|
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm |
OMIM:615113 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Obesity, Oligomenorrhea |
OMIM:219090 |
| Diaphanospondylodysostosis |
|
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulati... |
OMIM:608022 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Anteverted nares, Lateral ventricle dilatation, Male urethral meatus stenosis, Const... |
ORPHA:464738 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
| Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Nep... |
OMIM:603909 |
| Diaphanospondylodysostosis |
|
Myelomeningocele, Multiple renal cysts |
ORPHA:66637 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity, Prominent nose |
ORPHA:319675 |
| X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... |
OMIM:251100 |
| Mowat-Wilson Syndrome |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Vesicourete... |
ORPHA:2152 |
| Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Depression, Constipation, Paresthesia, Hypothyroidism |
ORPHA:36397 |
| 16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Cryptorchidism, Protruding ear, Dysphagia, Chronic otitis media, Hearing ... |
ORPHA:261250 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Vertigo, Optic atrophy, Depression, 3-Methylglutaconic aciduria, Increased hepatic ... |
OMIM:619259 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Increased circulating IgE level, Hepatitis, Type I diabetes mellitus, Failure... |
OMIM:304790 |
| Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Obesity |
OMIM:105830 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Dysplastic corpus callosum, Chronic kidney disease, Dysphagia, Tubulointerstitial ne... |
ORPHA:488627 |
| Neurofibromatosis Type 1 |
|
Multiple lipomas, Pheochromocytoma, Chorioretinal coloboma, Heterochromia iridis, Spinal neurofib... |
ORPHA:636 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Charge Syndrome |
|
Depressed nasal bridge, Choanal atresia, Polyhydramnios, Aqueductal stenosis, Cryptorchidism, Ano... |
ORPHA:138 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula, Horseshoe kidney, Simple ear |
OMIM:619318 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... |
ORPHA:79404 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Agitation, Ovarian cyst |
OMIM:610475 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Restlessness, Elevated circulating alpha-fetoprotein... |
OMIM:615273 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Reduced circulating transferrin concentration, Chylous ascites,... |
ORPHA:90363 |
| Chops Syndrome |
|
Anteverted nares, Cryptorchidism, Optic atrophy, Obesity, Short nose |
OMIM:616368 |
| Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Omphalocele, Ectopic pancreatic tissue, Hypospadias, Renal a... |
OMIM:229850 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polycystic kidney dysplasia |
OMIM:615397 |
| Chronic Mucocutaneous Candidiasis |
|
Recurrent urinary tract infections, Abnormal dental enamel morphology, Hepatitis, Hematuria, Abno... |
ORPHA:1334 |
| Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational a... |
OMIM:257300 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Lateral ventricle dilatation, Polyhydramnios, Ventriculomegaly |
OMIM:618291 |
| Phelan-Mcdermid Syndrome |
|
Abnormality of the kidney, Aggressive behavior, Cellulitis, Tongue thrusting, Bruxism, Protruding... |
OMIM:606232 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Abnormality of visual evoked potentials, Optic atrophy |
OMIM:616875 |
| Occipital Horn Syndrome |
|
Gastroparesis, Abnormality of the sense of smell, Bladder diverticulum, Gastroesophageal reflux, ... |
ORPHA:198 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Hydrocephalus, Urethral stenosis, Flexion contracture, Polyc... |
ORPHA:261290 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Chorioretinal atrophy, Retinal degeneration |
OMIM:210370 |
| Trichothiodystrophy |
|
Multiple joint contractures, Cryptorchidism, Absence of subcutaneous fat, Macular degeneration, G... |
ORPHA:33364 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Chronic pancreatitis, Hyperlipidemi... |
OMIM:232240 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, Recurr... |
ORPHA:277 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, Hepatoblastoma, Low-s... |
ORPHA:373 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Cachexia, Anorexia, Abnormality of the thyroid gland, Melano... |
ORPHA:1969 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Transverse vaginal septum, Ureterocele, Co... |
OMIM:129900 |
| Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism, Micropenis |
OMIM:610125 |
| Kniest Dysplasia |
|
Retinal detachment, Rhegmatogenous retinal detachment, Depressed nasal bridge, Lattice retinal de... |
ORPHA:485 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of visual evok... |
ORPHA:320401 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Vesicourete... |
ORPHA:261537 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Segmental peripheral demyelination/remy... |
OMIM:601455 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
| Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Hyperactivity, Impulsivity, Dysphagia, Mental deterioration, Emotional labi... |
OMIM:610217 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Inguinal hernia, Camptodactyly of... |
ORPHA:217085 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster... |
OMIM:158330 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst,... |
OMIM:617478 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Abnormality of retinal pigmentation |
ORPHA:1496 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Diabetes mellitus, Optic neuropathy, Sensorineural hearing impairment, Optic ... |
OMIM:604928 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Inguinal hernia, Retinal dystrophy, Malformation of the hepatic ductal plate, Renal... |
OMIM:218330 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation |
OMIM:619278 |
| Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
| Pseudoxanthoma Elasticum |
|
Choroidal neovascularization, Retinal hemorrhage, Optic disc drusen, Angioid streaks of the fundu... |
OMIM:264800 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Tubulonodular pericallosal lipoma, Remnants of the hyaloid vascular system, Optic ... |
OMIM:603671 |
| Ruvalcaba Syndrome |
|
Inguinal hernia, Cryptorchidism, Hypopigmented skin patches, Abnormal localization of kidney, Hem... |
ORPHA:3121 |
| 17Q12 Microdeletion Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Diabetes mellit... |
ORPHA:261265 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Low-se... |
OMIM:616258 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Hydrocephalus, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux, M... |
ORPHA:500055 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Agitation, Secondary amenorrhea |
OMIM:610489 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Otosclerosis, Inguinal hernia, Camptodactyly of... |
ORPHA:217093 |
| Hyper-Igd Syndrome |
|
Optic disc pallor, Increased circulating IgA level, Splenomegaly, Vertigo, Increased circulating ... |
OMIM:260920 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridge, Obesity, Truncal obesit... |
ORPHA:466950 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Abnormal pinna morphology, Septate vagina, Uterus didelphys, Microtia, Low-se... |
OMIM:617925 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Failure to thrive, Abnormal immunoglobulin level, Jaundice, Increased circulating I... |
ORPHA:276 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Prominent nasal bridge, Retinopathy, Obesity |
OMIM:619269 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Mucolipidosis Iii Alpha/Beta |
|
Retinopathy, Retinal degeneration |
OMIM:252600 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Adipose tissue loss... |
ORPHA:125 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ... |
OMIM:233450 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Renal cyst, Colpocephaly, Agenesis of corp... |
OMIM:617260 |
| Meckel Syndrome, Type 5 |
|
Anencephaly, Occipital encephalocele, Bile duct proliferation, Renal cyst |
OMIM:611561 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
| Leopard Syndrome 1 |
|
Hyposmia, Cryptorchidism, Depressed nasal ridge |
OMIM:151100 |
| 3Q29 Microduplication Syndrome |
|
Wide nasal bridge, Obesity |
ORPHA:251038 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Macular degeneration |
ORPHA:284289 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Depressed nasal bridge, Hydrocephalus, Hematochezia, Renal tubular acidosis, Lateral ventricle di... |
OMIM:619575 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Hepatosplenomegaly, Increased c... |
ORPHA:169154 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Retinal coloboma, Polycystic kidney ... |
OMIM:616546 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation, Holoprosencephaly |
ORPHA:2163 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Uplifted earlobe, Asplenia, Flexion contracture, Vesicourete... |
ORPHA:261552 |
| Marshall-Smith Syndrome |
|
Omphalocele, Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Hydrocephalus, Mel... |
OMIM:602535 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Increased circulating IgE level |
OMIM:616069 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Abnormal pinna morphology, Hydrocephalus, Abnormal renal morphology, Flexion contracture, Hypopla... |
OMIM:207410 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Optic nerve hypoplasia, Flexion contracture, Dysphagia, Low-set ears, Attention deficit hyperacti... |
OMIM:620029 |
| Lassa Fever |
|
Miscarriage, Jaundice, Oliguria, Increased circulating IgM level, Dysphagia, Hearing impairment |
ORPHA:99824 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... |
ORPHA:365 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ataxia, Chronic diarrhea, Lateral ventricle dilatation, Low frustration tolerance, Short nose |
ORPHA:457279 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Retinal hamartoma, Hydrocephalus, Optic atrophy, Abnormal... |
ORPHA:538 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Adrenal cortical sclerosis, Absent specific antibody r... |
OMIM:102700 |
| Odontochondrodysplasia 1 |
|
Death in infancy, Dentinogenesis imperfecta, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Increased circulating IgE level, Scarring |
ORPHA:89843 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Ataxia, Hypospadias, Narrow nasal ridge, Cryptorchidism, Horseshoe kidney, Colpocephaly, Congenit... |
OMIM:620083 |
| Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Renal Hypodysplasia/Aplasia 1 |
|
Renal dysplasia, Proteinuria, Bilateral renal agenesis, Bicornuate uterus, Low-set ears, Vaginal ... |
OMIM:191830 |
| African Trypanosomiasis |
|
Hepatomegaly, Renal insufficiency, Papilledema, Miscarriage, Urinary incontinence, Aggressive beh... |
ORPHA:3385 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
| Xq21 Microdeletion Syndrome |
|
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... |
ORPHA:1435 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization, Hearing impairment |
OMIM:619074 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Cryptorchidism, Conductive hearing impairment, Sensorineural hearing impa... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Cryptorchidism, Conductive hearing impairment, Sensorineural hearing impa... |
ORPHA:352665 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
| Lissencephaly Type 1 Due To Doublecortin Gene Mutation |
|
Irritability, Lateral ventricle dilatation, Dysphagia |
ORPHA:2148 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Abnormality of visual evoked potentials, Optic atrophy, Vitiligo |
ORPHA:480898 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Large for gestational age, Macr... |
ORPHA:500095 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Atrophic scars, Abnormality of the urinary system, Vaginal stricture, Stenosi... |
ORPHA:79409 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Retinal degeneration |
ORPHA:542306 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Truncal obesity, Convex nasal... |
OMIM:616541 |
| Shwachman-Diamond Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Diabetes mellitus, Decreased resp... |
ORPHA:811 |
| Cockayne Syndrome Type 3 |
|
Flexion contracture, Premature graying of hair, Adult onset sensorineural hearing impairment, Con... |
ORPHA:90324 |
| Hermansky-Pudlak Syndrome |
|
Renal insufficiency, Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morpholog... |
ORPHA:79430 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Decreased response to growth hormone stimulation test, Transverse vaginal septum, Ureterocele, Ve... |
OMIM:604292 |
| Cystic Hamartoma Of Lung And Kidney |
|
Multicystic kidney dysplasia |
ORPHA:2111 |
| Boutonneuse Fever |
|
Elevated hepatic transaminase, Increased circulating IgG level, Renal insufficiency, Increased ci... |
ORPHA:83313 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity, Head-banging, Abnormal tempe... |
ORPHA:177907 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Urethral atresia, Conductive hearing impairment, Encephalocel... |
ORPHA:2052 |
| Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Renal cell carcinoma, Multiple lipomas, Renal cyst |
OMIM:135150 |
| Lowry-Wood Syndrome |
|
Elbow flexion contracture, Pigmentary retinopathy, Small for gestational age |
OMIM:226960 |
| Campomelia, Cumming Type |
|
Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Pancreatic cysts, Abnormality of th... |
ORPHA:1318 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Retinal atrophy |
OMIM:616722 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Decreased serum insulin-like growth factor 1, Increased circulating IgE level, Thyroiditis, Delay... |
OMIM:618985 |
| Bainbridge-Ropers Syndrome |
|
Anteverted nares, Prominent nasal bridge, Depressed nasal bridge, Underdeveloped nasal alae, Broa... |
OMIM:615485 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hypopigmented skin patches, Protruding... |
ORPHA:2115 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Posteriorly rotated ears, Camptodactyly, Enamel hypoplasia, Macrotia |
OMIM:619980 |
| Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Abnormality of the kidney, Abnormal auditory evoke... |
ORPHA:171929 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Pigmentary ... |
OMIM:610651 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Lateral ventricle dilatation, Depressed nasal bridge |
OMIM:620075 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Agitation |
OMIM:219080 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Atresia of the external auditory canal, Conductive hearing impairment, Micropenis, V... |
OMIM:106260 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Glomerulonephritis, Increased circulating IgA level, Hypersple... |
ORPHA:3261 |
| Trichinellosis |
|
Facial palsy, Vertigo, Increased circulating IgE level, Retinal hemorrhage, Central retinal arter... |
ORPHA:863 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormal circulating enzyme concentration or activity, Mixed hearing impairment, Optic disc hypop... |
ORPHA:79345 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, F... |
ORPHA:466768 |
| Camurati-Engelmann Disease |
|
Hepatomegaly, Facial palsy, Cachexia, Anorexia, Splenomegaly, Abnormal subcutaneous fat tissue di... |
ORPHA:1328 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin... |
ORPHA:158048 |
| Optic Nerve Hypoplasia, Bilateral |
|
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Splenomegaly, Increased circulating ferritin conc... |
OMIM:222700 |
| Say Syndrome |
|
Macrotia, Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
| Combined Oxidative Phosphorylation Defect Type 39 |
|
Cryptorchidism, Lateral ventricle dilatation, Vomiting, Leg dystonia |
ORPHA:565624 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Compulsive behaviors, Conductive hearing impairment, Hypospadias, P... |
ORPHA:2044 |
| Renal, Genital, And Middle Ear Anomalies |
|
Abnormality of the middle ear ossicles, Vaginal atresia, Hearing impairment, Renal hypoplasia/apl... |
OMIM:267400 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Failure to thrive, Posteriorly rotated ears, Optic nerve hypoplasia, Cryptorchidism, Low-set ears... |
OMIM:617506 |
| Tetrasomy 9P |
|
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Hyperactivity, Abnormal ... |
ORPHA:3310 |
| Knobloch Syndrome |
|
Retinal detachment, Depressed nasal bridge, Abnormal vitreous humor morphology, Macular degenerat... |
ORPHA:1571 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
| Noonan Syndrome 14 |
|
Prominent nasal bridge, Polyhydramnios, Cryptorchidism, Hyperhidrosis, Lateral ventricle dilatati... |
OMIM:619745 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Pa... |
OMIM:267010 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cryptorchidism, Sensorineural hearing impairment, Protruding ear, Pigmentary retinopathy, Low-set... |
OMIM:614230 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Aplasia of the thymus, Genital ulcers, Splenomegaly, Increased circulating IgE leve... |
OMIM:602450 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglyc... |
ORPHA:453533 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Cutis Marmorata Telangiectatica Congenita |
|
Retinal detachment, Multicystic kidney dysplasia, Multiple cafe-au-lait spots, Displacement of th... |
ORPHA:1556 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity |
OMIM:618620 |
| Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Urinary incontinence, Hearing impairment, ... |
ORPHA:512 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Neurogenic bladder, Ataxia, Tremor, Xerostomia, Dysmetria |
OMIM:618527 |
| Macrophthalmia, Colobomatous, With Microcornea |
|
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma |
OMIM:602499 |
| Distal Deletion 10Q |
|
Ataxia, Prominent nasal bridge, Prominent nose, Functional abnormality of the bladder, Wide nasal... |
ORPHA:96148 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Vertigo, Papillary ... |
OMIM:193300 |
| Dpagt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Aggressive behavior, Rod-cone dystrop... |
ORPHA:86309 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Retinal degeneration, Optic atrophy, Phonic tics, Pigmentary retinopathy, Dysphagi... |
OMIM:234200 |
| Phace Association |
|
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Congenital hypothyroidism, Increased reti... |
OMIM:606519 |
| Tenorio Syndrome |
|
Hypoglycemia, Hydrocephalus, Enuresis, Emotional lability, Hypoinsulinemia |
OMIM:616260 |
| Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617875 |
| Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Renal cyst, Hepatic cysts |
OMIM:617874 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Inguinal hernia, Optic atrophy, Obesity |
OMIM:614947 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Sensorineural hearing impairment, Increased circulating IgE level |
OMIM:221700 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Hepatitis, He... |
OMIM:194380 |
| Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Failure to thrive, Hypoproteinemia |
OMIM:603554 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Joint contracture of the hand, Increased circulating IgE level |
OMIM:618523 |
| Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia |
ORPHA:1068 |
| Halperin-Birk Syndrome |
|
Colpocephaly, Pseudobulbar paralysis, Gastroesophageal reflux, Agenesis of corpus callosum, Ventr... |
OMIM:618651 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Hyperactivity, Dysgammaglobuline... |
OMIM:251260 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Low-set, posteriorly rotated ears, Agenesis of pineal gland, Multiple joint contractures, Inguina... |
ORPHA:536471 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Mixed hearing impairment, Inguinal hernia, Sensorineural hea... |
OMIM:272460 |
| Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch... |
OMIM:140000 |
| Prune Belly Syndrome |
|
Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethral valve, Hydronephrosis, Oli... |
OMIM:100100 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c, Thickened ears |
ORPHA:79134 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Trichothiodystrophy 3, Photosensitive |
|
Increased circulating IgA level, Bilateral cryptorchidism, Abdominal adhesions, Low-set ears, Fai... |
OMIM:616395 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Increased circulating IgA level |
OMIM:314000 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Compulsive behaviors, Otitis media, Conductive hearing impairment, Vesicoureteral reflux, Abnorma... |
ORPHA:353281 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity, Underdeveloped nasal alae, Wide nasal bridge, Prominent nose |
ORPHA:2637 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Hepatic fibrosis, Holoprosencephaly, Aplasia of the uterus, Polycystic k... |
OMIM:619879 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Retinal degeneration |
ORPHA:79244 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Omphalocele, Cryptorchidism, Renal hypoplasia, Renal cyst, Stillbirth, Ambiguous g... |
OMIM:616300 |
| Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Increased circulating IgE level, Elbow flexion contracture, Horseshoe kidney, Decre... |
ORPHA:508533 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Lateral ventricle dilatation, Renal hypoplasia |
OMIM:618914 |
| Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Polycystic kidney dysplasia, Decreased liver function, Hepatic cysts |
OMIM:600666 |
| Lacrimoauriculodentodigital Syndrome |
|
Choanal atresia, Cryptorchidism, Anosmia, Renal hypoplasia, Xerostomia, Dysphagia, Vesicoureteral... |
ORPHA:2363 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypoplasia of the vagina, Bilobate gallbladder, Protruding ear, Clitoral hy... |
OMIM:261540 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Cln5 Disease |
|
Abnormality of visual evoked potentials, Hyperactivity, Obsessive-compulsive trait, Aggressive be... |
ORPHA:228360 |
| Developmental And Epileptic Encephalopathy 3 |
|
Death in childhood, Abnormality of visual evoked potentials, Death in adolescence |
OMIM:609304 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Hiatus hern... |
ORPHA:2538 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Small scrotum, External genital hypoplasia, Cryptorchidism, Optic atrophy, Obesity, Hypogonadism |
OMIM:614231 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Urinary incontinence, Septate vagina |
OMIM:114150 |
| C Syndrome |
|
Omphalocele, Hepatomegaly, Posteriorly rotated ears, Cryptorchidism, Renal cortical cysts, Low-se... |
OMIM:211750 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Retinal dystrophy, Overweight, Joint contracture of the 5th finger, Poly... |
OMIM:619562 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Hypospadias, Optic nerve hypoplasia, Anterior pituitary hypoplasia, Hypogona... |
OMIM:206900 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Holoprosencephaly, Chorioretinal coloboma, Vesicoureteral reflux, Hypothyroidism, ... |
OMIM:107480 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Short nasal bridge, ... |
OMIM:253280 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Pancreatic fibrosis, Abnormal pinna morphology, Hepatic fibrosis, Poly... |
OMIM:200995 |
| Cancer-Associated Retinopathy |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Testicular neoplasm, Fove... |
ORPHA:71505 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Cachexia |
ORPHA:1389 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... |
ORPHA:95494 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Microcephaly 29, Primary, Autosomal Recessive |
|
Emotional lability, Hyperactivity |
OMIM:620047 |
| Fryns Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Multicystic kidney dysplasia, Aganglionic megacol... |
ORPHA:2059 |
| Oculocutaneous Albinism Type 1A |
|
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... |
ORPHA:79431 |
| Hajdu-Cheney Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypospadias, Splenomegaly, Hydrocephalus, Multiple renal cysts, Lo... |
ORPHA:955 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Multicystic kidney dysplasia, Decreased circulating total IgM, Defec... |
OMIM:619774 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Bohring-Opitz Syndrome |
|
Retinal atrophy, Depressed nasal bridge, Anteverted nares, Optic atrophy, Wide nasal bridge, Seve... |
ORPHA:97297 |
| Interstitial Cystitis |
|
Abnormal labia morphology, Abnormality of the urethra, Urinary bladder inflammation, Functional a... |
ORPHA:37202 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Thyr... |
ORPHA:79078 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Failure to thrive in infancy, Optic nerve hypoplasia, Bilateral renal dysplas... |
ORPHA:500150 |
| Branchio-Oculo-Facial Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Renal agenesis, Abnormal pinna m... |
ORPHA:1297 |
| Aniridia 1 |
|
Hypoplasia of the fovea, Optic nerve hypoplasia, Increased proinsulin:insulin ratio, Glucose into... |
OMIM:106210 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Retinal dystrophy, Hepatic fibrosis, Polycystic kidney dysplasia, Ambiguous ... |
OMIM:263520 |
| White-Kernohan Syndrome |
|
Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Obesity, Short nose |
OMIM:619426 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Anteverted nares, Retinal degeneration |
OMIM:618479 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Anteverted nares, Lateral ventricle dilatation |
OMIM:612863 |
| Branchiooculofacial Syndrome |
|
Renal cyst, Premature graying of hair, Conductive hearing impairment, Ectopic thymus tissue, Hypo... |
OMIM:113620 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Erythermalgia, Primary |
|
Diarrhea, Constipation, Xerostomia, Hyperhidrosis |
OMIM:133020 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hydrocephalus, Hypoplasia of the uterus,... |
OMIM:309801 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Aggressive behavior, Tongue thrusting, Obesity, Compulsive behaviors, Failure to thrive |
ORPHA:369950 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Depressed nasal bridge, Broad nasal tip, Bulbous nose, Wide nasal bridge, Obesity |
ORPHA:466943 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Depressed nasal bridge, Anteverted nares, Broad nasal tip, Optic disc coloboma, Obesity, Wide nas... |
OMIM:617157 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Abnormality of visual evoked potentials, Joint contracture, Inguinal hernia, Death in childhood |
OMIM:614457 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Posteriorly rotated ears, Optic nerve hypoplasia, Hydrocephalus, Low-set ears, Hyp... |
OMIM:605627 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Precocious puberty, Obesity, Umbilical hernia, Abnormal repetitive mannerisms |
OMIM:301066 |
| Farber Disease |
|
Macular degeneration, Cherry red spot of the macula, Failure to thrive, Recurrent upper respirato... |
ORPHA:333 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:147060 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Protruding ear, Fetal megacystis, Low-set ears |
ORPHA:73246 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Aggressive behavior, Impaired renal concentrating ability, Stage 5 chron... |
OMIM:610188 |
| Netherton Syndrome |
|
Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu... |
ORPHA:634 |
| Hajdu-Cheney Syndrome |
|
Inguinal hernia, Hypospadias, Cryptorchidism, Hydrocephalus, Renal cyst, Large earlobe, Polycysti... |
OMIM:102500 |
| Gabriele-De Vries Syndrome |
|
Broad nasal tip, Tremor, Cryptorchidism, Lateral ventricle dilatation, Dystonia, Ureteropelvic ju... |
OMIM:617557 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Decreased serum leptin, Flexion contracture, Spotty hyperpigmentation, Failure to th... |
OMIM:614008 |
| Angiostrongyliasis |
|
Increased circulating IgA level, Increased circulating specific IgE antibody, Irritability, Incre... |
ORPHA:74 |
| Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polycystic kidney dysplasia, Polysplenia |
OMIM:211890 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Hypospadias, Small fo... |
ORPHA:1596 |
| Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:173900 |
| Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Knee flexion contra... |
ORPHA:85201 |
| Sarcoidosis |
|
Nephrocalcinosis, Tubulointerstitial nephritis, Hypopigmentation of the skin, Hypothyroidism, Hep... |
ORPHA:797 |
| Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Anorexia, Phimosis, Urinary bladder inflammation, Flexi... |
ORPHA:99921 |
| Desbuquois Dysplasia 2 |
|
Truncal obesity, Depressed nasal bridge |
OMIM:615777 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Peri... |
OMIM:249100 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Hypospadias, Abnormal pinna morphology, Bifid uterus, Anencephaly,... |
OMIM:236680 |
| Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Multicystic kidney dysplasia, Posteriorly rotated ears, Facial palsy, Hydrocephalus,... |
OMIM:300373 |
| Camptobrachydactyly |
|
Camptodactyly of finger, Septate vagina |
ORPHA:1319 |
| Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Calcium nephrolithiasis, Abnormal circulating calcium concentration, Weight loss, H... |
ORPHA:60025 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Congenital sensorineural hearing impairment, Hypogonadotropic hypogonadism, Optic nerve hypoplasia |
ORPHA:45358 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Holoprosencephaly 9 |
|
Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth hormone stimu... |
OMIM:610829 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinopathy, Retinal pigment epithelial mottling, Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
| Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small scrotum, Small fo... |
ORPHA:97360 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus |
OMIM:177850 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Fraser Syndrome 1 |
|
Encephalocele, Hypospadias, Abnormal pinna morphology, Renal hypoplasia/aplasia, Cryptorchidism, ... |
OMIM:219000 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling |
OMIM:619649 |
| Fixed Drug Eruption |
|
Vaginal mucosal ulceration, Hyperpigmentation of the skin |
ORPHA:293812 |
| Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Sensorineural hearing impairment, Increased circulating... |
OMIM:615816 |
| Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
| Charge Syndrome |
|
Hypoparathyroidism, Decreased response to growth hormone stimulation test, Choanal atresia, Polyh... |
OMIM:214800 |
| Baller-Gerold Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Optic nerve hypoplasia, Abnormality of the ki... |
OMIM:218600 |
| Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Myelomeningocele, Hydrocephalus, Ovarian cyst, Hepatic fibrosis, P... |
OMIM:311200 |
| Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... |
ORPHA:2322 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Peripartum Cardiomyopathy |
|
Obesity |
ORPHA:563 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Posteriorly rotated ears, Urinary incontinence, Joint contracture of the 5th finger, Attention de... |
OMIM:619934 |
| Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Ureteral duplication, Multicystic kidney dysplasia, Inguinal h... |
ORPHA:709 |
| Jacobsen Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Multicystic kidney dysplasia, Inguinal herni... |
ORPHA:2308 |
| Currarino Syndrome |
|
Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Septate vagina, Hor... |
OMIM:176450 |
| Apert Syndrome |
|
Cryptorchidism, Hydrocephalus, Hydronephrosis, Chronic otitis media, Vaginal atresia, Hearing imp... |
OMIM:101200 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Vaginal neoplasm, Multiple cafe-... |
ORPHA:1052 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Hypospadias, Depressed nasal bridge, Wide nasal bridge, Lateral ventricle dilatation, Small pitui... |
OMIM:619479 |
| Say-Barber-Miller Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Cryptorchidism, Optic atrophy, Macular degeneration, Rod... |
ORPHA:3132 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Chronic otitis media, Increased circulating IgE level |
ORPHA:217390 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Truncal obesity, Prominent nasal bridge, Prominent nose |
OMIM:210720 |
| Cushing Disease |
|
Dorsocervical fat pad, Increased body weight, Secondary amenorrhea, Truncal obesity, Abdominal ob... |
ORPHA:96253 |
| Aicardi Syndrome |
|
Anteverted nares, Partial agenesis of the corpus callosum, Choroid plexus cyst, Lateral ventricle... |
OMIM:304050 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Increased circulating IgM level, Failure to thrive, Low-set ears, Decreased circulating IgA level |
OMIM:242860 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:619752 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Neonatal ... |
OMIM:130650 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Irritability, Lateral ventricle dilatation, Exaggerated startle response, Dysphagia |
OMIM:618367 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Attenuated Familial Adenomatous Polyposis |
|
Uterine leiomyoma, Multiple renal cysts, Congenital hypertrophy of retinal pigment epithelium, Th... |
ORPHA:220460 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Abnormal penis morphology, Vaginal dryness, Dysuria, Anorexia, Ora... |
ORPHA:95455 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
| Pgm3-Cdg |
|
Mild neurosensory hearing impairment, Membranoproliferative glomerulonephritis, Increased circula... |
ORPHA:443811 |
| Agel Amyloidosis |
|
Proteinuria, Ataxia, Edema, Xerostomia, Stage 5 chronic kidney disease, Depression, Blepharochalasis |
ORPHA:85448 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgE level, Decreas... |
OMIM:243700 |
| Carney Complex |
|
Ovarian dermoid cyst, Sertoli cell neoplasm, Dorsocervical fat pad, Testicular neoplasm, Precocio... |
ORPHA:1359 |
| Keppen-Lubinsky Syndrome |
|
Narrow nasal bridge, Polyhydramnios, Underdeveloped nasal alae, Opisthotonus, Lateral ventricle d... |
OMIM:614098 |
| Proboscis Lateralis |
|
Optic nerve hypoplasia, Unilateral renal agenesis, External genital hypoplasia, Optic disc colobo... |
ORPHA:141099 |
| Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary, Optic nerve hypoplasia |
OMIM:600775 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Otitis externa, Failure to thrive, Increased circulating IgE level |
OMIM:614328 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Increased circulating IgA level |
ORPHA:343 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Rod-cone dystrophy, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Multiple renal cy... |
ORPHA:464329 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Small earlobe, Pelvic kidney, Abnormal repetitive manne... |
OMIM:619522 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Optic nerve hypoplasia, Cryptorchidism, Aplasia of the left hemidiaphragm, Low-set ... |
OMIM:620025 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of t... |
OMIM:271520 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Macular degeneration, Abnormal autonomic nervous system physiology, Abnormal cranial nerve morpho... |
ORPHA:247234 |
| Iatrogenic Botulism |
|
Xerostomia, Constipation, Urinary retention, Dysphagia |
ORPHA:254509 |
| 17Q24.2 Microdeletion Syndrome |
|
Truncal obesity, Failure to thrive in infancy, Secondary amenorrhea, Aggressive behavior |
ORPHA:529962 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Failure to thrive, Increased circulating IgE level |
OMIM:256500 |
| Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Abnormality of T cell physiology, Optic neuropathy, Anorexia, Splenomegaly, Hyperca... |
OMIM:181000 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa... |
OMIM:273395 |
| Hydranencephaly |
|
Chorioretinal atrophy, Optic nerve hypoplasia, Infantile sensorineural hearing impairment, Atroph... |
ORPHA:2177 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
ORPHA:480536 |
| Inhalational Botulism |
|
Xerostomia, Diarrhea, Urinary retention, Constipation |
ORPHA:254504 |
| Autosomal Recessive Robinow Syndrome |
|
Low-set, posteriorly rotated ears, Death in infancy, Hypoplasia of penis, Multicystic kidney dysp... |
ORPHA:1507 |
| Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Cholangitis, Abnormality of the kidney, Increased circulating IgG4 level, Re... |
ORPHA:449432 |
| Alport Syndrome |
|
Macular degeneration, Retinal flecks, Clitoral hypertrophy, Dysphagia |
ORPHA:63 |
| Orofaciodigital Syndrome Type 1 |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ab... |
ORPHA:2750 |
| Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
| Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Posteriorly rotated ears, Congenital diaphragmatic hernia, Abnormality of the ure... |
OMIM:200980 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Low-set ears, Mixed hearing impairment, Cupped ear, Renal cyst |
OMIM:615560 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Hearing impairment, Alobar holoprosencephaly, Micr... |
OMIM:301043 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Anteverted nares, Narrow nasal tip, Cryptorchidism, Wide nasal bridge, Colpocephaly,... |
ORPHA:477993 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Aplasia of the nasal bone, Hypospadias, Dysplastic corpus callosum, Cryptorchidism, Short nose, C... |
OMIM:618820 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Inguinal hernia, Hypospadias, Hearing impairment, Congenital diaphragmatic hernia, ... |
OMIM:312870 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... |
ORPHA:65681 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Micropen... |
OMIM:278850 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma, Renal cyst |
OMIM:617100 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cry... |
ORPHA:353277 |
| Cornelia De Lange Syndrome |
|
Low-set, posteriorly rotated ears, Renal insufficiency, Hypoplasia of penis, Multicystic kidney d... |
ORPHA:199 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age |
OMIM:227650 |
| Ramon Syndrome |
|
Optic disc pallor, Enlarged labia minora, Pigmentary retinopathy, Decreased body weight, Hearing ... |
OMIM:266270 |
| Hutchinson-Gilford Progeria Syndrome |
|
High-frequency sensorineural hearing impairment, Female hypogonadism, Hypermelanotic macule, Decr... |
ORPHA:740 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Ureteral duplication, Failure to thrive, Diabetes mellitus, Inguinal hernia, ... |
OMIM:600001 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Hydrocephalus, Polycystic kidney dysplasia |
OMIM:617866 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Hypothyroidism, Retinal vascular malformation, Ectopic thyroid, Heterochr... |
ORPHA:42775 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Decreased circulating IgG level, Increased circulating IgM level, Decreased circula... |
OMIM:616005 |
| Epidermal Nevus Syndrome |
|
Lipoma, Hypopigmentation of the skin, Polycystic kidney dysplasia, Hyperpigmentation of the skin |
ORPHA:35125 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Myhre Syndrome |
|
Cryptorchidism, Small for gestational age, Obesity, Camptodactyly |
OMIM:139210 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Small for gestational age, Hypospadias, Impulsivity, Premature thelarche, Bilatera... |
OMIM:180849 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Low-set, posteriorly rotated ears, Mixed hearing impairment, Hypospadias, Decreased response to g... |
ORPHA:444077 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Spina bifida, Conductive hearing impairment, Myel... |
ORPHA:1393 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia |
ORPHA:48652 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Bilateral cryptorchidism, Epispadias, Partial agenesis of the corpus ca... |
ORPHA:434179 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Small scrotum, Hypospadias, Cryptorchidism, Paroxysmal bursts of laughter, Optic a... |
OMIM:309580 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Xerostomia |
OMIM:270150 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,... |
ORPHA:2973 |
| Achalasia, Familial Esophageal |
|
Achalasia, Xerostomia |
OMIM:200400 |
| Tempi Syndrome |
|
Increased circulating IgG level, Ascites, Abnormality of the kidney |
ORPHA:284227 |
| Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Impaired neutrophil chemotaxis, Hemolytic... |
ORPHA:2968 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Witteveen-Kolk Syndrome |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Unilateral cryptorchidism, Congenital ... |
OMIM:613406 |
| Scalp-Ear-Nipple Syndrome |
|
Renal insufficiency, Anteverted nares, Depressed nasal bridge, Unilateral renal agenesis, Palpebr... |
OMIM:181270 |
| 6Q Terminal Deletion Syndrome |
|
Failure to thrive, Hypospadias, Obesity, Phimosis |
ORPHA:75857 |
| Roberts-Sc Phocomelia Syndrome |
|
Knee flexion contracture, Wrist flexion contracture, Accessory spleen, Hypospadias, Cryptorchidis... |
OMIM:268300 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Chronic otitis media, Increased circulating IgE level, Cellulitis |
ORPHA:2314 |
| Viss Syndrome |
|
Exostosis of the external auditory canal, Retinal detachment, Contracture of the proximal interph... |
OMIM:619472 |
| Adult Idiopathic Neutropenia |
|
Increased circulating IgM level |
ORPHA:2688 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Posteriorly rotated ears, Maternal diabetes, Cryptorchidism,... |
ORPHA:49 |
| C Syndrome |
|
Low-set, posteriorly rotated ears, Omphalocele, Multicystic kidney dysplasia, Death in infancy, F... |
ORPHA:1308 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Hydroureter, Cryptorchidism, Megacys... |
ORPHA:2241 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Flexion contracture, Limb joint contracture |
OMIM:301072 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... |
ORPHA:790 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Wide nose, Prominent nasal bridge, Polyhydramnios, Prominent nose, ... |
OMIM:606170 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
| Carpenter Syndrome 2 |
|
Bilateral cryptorchidism, Cryptorchidism, Obesity, Knee flexion contracture, Camptodactyly, Umbil... |
OMIM:614976 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Inguinal hernia, Anterior pituitary hypoplasia, Elbow... |
OMIM:181450 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Dorsocervical fat pad, Anorexia, Increased body weight, Secondary amenorrhea, Weight loss, Trunca... |
ORPHA:99889 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Renal agenesis, Abnormal pinna morphology, Abnormal renal collecting system morp... |
OMIM:134780 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H... |
ORPHA:3109 |
| Immunodeficiency 67 |
|
Liver abscess, Increased circulating IgE level |
OMIM:607676 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchi... |
ORPHA:93271 |
| Roberts Syndrome |
|
Progressive flexion contractures, External ear malformation, Cryptorchidism, Long penis, Knee fle... |
ORPHA:3103 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia |
ORPHA:3015 |
| Cerebrocostomandibular Syndrome |
|
Posteriorly rotated ears, Ectopic kidney, Elbow flexion contracture, Horseshoe kidney, Renal cyst... |
OMIM:117650 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose, Bulbous nose, T... |
OMIM:612474 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Abnormal pinna morphology, Camptodactyly of finger, Se... |
DECIPHER:81 |
| Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Lateral ventricle dilatation, Overhanging nasal tip, Vesicoureteral reflux |
OMIM:619869 |
| Pallister-Killian Syndrome |
|
Small scrotum, Congenital diaphragmatic hernia, Flexion contracture, Hyperpigmented streaks, Rena... |
OMIM:601803 |
| Primrose Syndrome |
|
Restlessness, Hip contracture, Hypergonadotropic hypogonadism, Aggressive behavior, Bilateral cry... |
OMIM:259050 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Renal agenesis, Hyp... |
OMIM:308205 |
| Williams-Beuren Syndrome |
|
Inguinal hernia, Failure to thrive in infancy, Retinal arteriolar tortuosity, Flexion contracture... |
OMIM:194050 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Vaginal atresia |
OMIM:248450 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Maternal diabetes,... |
ORPHA:3404 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Increased circulating IgE level, Increased circulating IgG level, Defective T cell proliferation,... |
OMIM:618213 |
| Iga Pemphigus |
|
Monoclonal elevation of circulating IgA, Increased circulating IgA level |
ORPHA:555905 |
| Wiskott-Aldrich Syndrome |
|
Reduced natural killer cell activity, Increased circulating IgA level, Increased circulating IgE ... |
OMIM:301000 |
| Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Micropenis, Depres... |
OMIM:147920 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
| Chand Syndrome |
|
Hydroureter, Imperforate hymen |
ORPHA:1401 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Imperforate hymen |
OMIM:100300 |
| Cystic Fibrosis |
|
Male infertility, Failure to thrive |
OMIM:219700 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Vaginal fistula, Abnormality of female external genitalia, Renal hypoplasia/aplasia, Persistent c... |
ORPHA:1112 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Unilateral external ear de... |
OMIM:164210 |
