| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Hydatidiform Mole |
|
Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
| Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
| Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati... |
OMIM:620357 |
| Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv... |
OMIM:232700 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
| Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
| Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries |
ORPHA:79084 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
| Peeling Skin Syndrome 5 |
|
Epidermal acanthosis, Scaling skin |
OMIM:617115 |
| Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal circulating hormone conc... |
ORPHA:314478 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa... |
ORPHA:54057 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... |
OMIM:604367 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycy... |
OMIM:268020 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:610717 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
| Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating creatinine concentration, Pri... |
OMIM:617872 |
| Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
| Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
| Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
| Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
| Peeling Skin Syndrome 3 |
|
Erythema, White scaling skin |
OMIM:616265 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin |
ORPHA:530838 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
| 17Q21.31 Microduplication Syndrome |
|
Toe syndactyly, Anteverted nares, Sandal gap, Micrognathia, High palate, Clinodactyly of the 5th ... |
ORPHA:217340 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Decrea... |
OMIM:619048 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
| Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Myopathy, Aminoaciduria |
ORPHA:33574 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Rhabdomyo... |
OMIM:300653 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Generalized limb muscle atrophy, Myopathy, High palate, Short nose, Anemia |
ORPHA:2598 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant... |
ORPHA:79083 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamylasemia, Elevated circu... |
OMIM:619386 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,... |
ORPHA:528 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Ataxia-Telangiectasia |
|
Diabetes mellitus, Polycystic ovaries, Type II diabetes mellitus, Delayed puberty, Abnormal testi... |
ORPHA:100 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... |
OMIM:237800 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin |
OMIM:146590 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... |
ORPHA:99429 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilo... |
OMIM:615631 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L... |
ORPHA:232 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased circulat... |
OMIM:301045 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Scaling skin |
OMIM:617571 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt... |
OMIM:613845 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
| Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst, Thyroid adenoma |
OMIM:617100 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Anteverted nar... |
ORPHA:2412 |
| Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin |
OMIM:113800 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
| Preeclampsia |
|
Type I diabetes mellitus, Polycystic ovaries |
ORPHA:275555 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hypergalactosemia, Hyperammonemia, Decreased liver function |
OMIM:601466 |
| Acral Peeling Skin Syndrome |
|
Erythema, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... |
ORPHA:3130 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
| Recon Progeroid Syndrome |
|
Skeletal muscle atrophy, Prominence of the premaxilla, Anteverted nares, Prominent nasal bridge, ... |
OMIM:620370 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
| Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Obesity |
OMIM:620195 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Rhabd... |
ORPHA:713 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| 46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova... |
ORPHA:2348 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
| Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increased circulating ... |
OMIM:618892 |
| 46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... |
ORPHA:243 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:609016 |
| Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Abnormal circulating leptin concentration, Insulin... |
ORPHA:2298 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic ... |
OMIM:274150 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| Acral Self-Healing Collodion Baby |
|
Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Cleft palate, Micrognathia |
ORPHA:2015 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... |
ORPHA:26792 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Short foot, High palate, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose |
OMIM:300577 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| Müllerian Aplasia And Hyperandrogenism |
|
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... |
ORPHA:247768 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Delayed closure of the anterior fontanelle, Prominent nose, Wide an... |
OMIM:614886 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:255120 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Tachycardia, Angular cheilitis, Me... |
ORPHA:35858 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Neutropenia, Nephritis, C... |
OMIM:617303 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Ankle swelling, Congenital diaphragmatic hernia, Micrognathia, ... |
OMIM:166300 |
| Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose |
OMIM:137550 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
| Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia |
OMIM:179700 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| 3Mc Syndrome 2 |
|
Prominence of the premaxilla, Torticollis, Hypospadias, Prominent nasal bridge, Hypoplasia of the... |
OMIM:265050 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Rabson-Mendenhall Syndrome |
|
Enlarged ovaries, Precocious puberty, Hypothyroidism, Insulin-resistant diabetes mellitus, Long p... |
ORPHA:769 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
| Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Hypogonadism, Scaling skin, Dry skin |
ORPHA:2269 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Elevated circulating alanine aminotransferase ... |
OMIM:261680 |
| 46,Xy Sex Reversal 4 |
|
Renal dysplasia, Distal symphalangism, Anteverted nares, Micrognathia, Prominent nose, Elevated c... |
OMIM:154230 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
| Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, ... |
OMIM:614034 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Idiopathic Localized Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90158 |
| Potocki-Shaffer Syndrome |
|
Prominent nasal bridge, Nephroblastoma, Broad nasal tip, Micrognathia, Underdeveloped nasal alae,... |
ORPHA:52022 |
| Psoriasis 2 |
|
Epidermal acanthosis, Scaling skin |
OMIM:602723 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... |
OMIM:212140 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
| Mccune-Albright Syndrome |
|
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... |
ORPHA:562 |
| Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypoplasia, Cleft palate, High pa... |
OMIM:246560 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Ring Chromosome 8 Syndrome |
|
Anteverted nares, Abnormality of the ureter, Deviation of finger, Short nose, Hydronephrosis |
ORPHA:1450 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... |
OMIM:278000 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognath... |
ORPHA:1832 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia, Abnormality of the musculature of the limbs |
ORPHA:3327 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
| Maxillonasal Dysplasia |
|
Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1248 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Hypospadias, Broad nasal tip, Wide... |
OMIM:619736 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por... |
ORPHA:369 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic s... |
ORPHA:276575 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Infertility, Oligomenorrhea |
OMIM:604931 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... |
ORPHA:276580 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Left ventricular hypertrophy, Micropenis, Decreased testicular size, Ri... |
ORPHA:335 |
| Craniofacial-Deafness-Hand Syndrome |
|
Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Ulnar dev... |
ORPHA:1529 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Episodic hyperhidrosis, Hypoglyce... |
ORPHA:276556 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Syndactyly, Anisocytosis, Anemia of inadequate production, Spl... |
OMIM:224120 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Broad nasal tip, Enuresis, Malar flattening, Short nose, Retrognathia |
OMIM:613670 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetic ketoacidosis, Hepatic steatosis, Increased C-peptide... |
OMIM:615238 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Myh9-Related Disease |
|
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Increased mean platelet volum... |
ORPHA:182050 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Myocardial infarction, Intestinal perforation, Rectal prolapse, Hemoglobinuria, Acute col... |
ORPHA:90038 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Hypospadias, Microcytic anemia, Micrognathia, Short toe, Flexion contracture, Wide nasal bridge, ... |
ORPHA:98791 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th... |
OMIM:152700 |
| Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis... |
ORPHA:49041 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... |
ORPHA:3111 |
| Acrokeratosis Verruciformis |
|
Epidermal acanthosis |
OMIM:101900 |
| Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulatin... |
OMIM:251880 |
| Frontonasal Dysplasia 1 |
|
Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxial hand polydactyly, Hypoplas... |
OMIM:136760 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbo... |
OMIM:614078 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Micrognathia, Abnormality of the urethra, Abnormality of the... |
ORPHA:2145 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Advanced eruption... |
OMIM:614753 |
| Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
| Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
| Cowden Syndrome 5 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... |
OMIM:615108 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
| Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
| Cowden Syndrome 6 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... |
OMIM:615109 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
ORPHA:42 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Micrognathia, Abnormality of the urinary system, High palate, Short nose,... |
ORPHA:1695 |
| Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Pancreatic islet-cell hyperplasia... |
OMIM:246200 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Prominent n... |
ORPHA:1307 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Eczema, Micrognathia, Hyperimidodipeptiduria, Splenomegaly, Recurrent pne... |
OMIM:170100 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
| Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Cervix cancer, Pancreatic adenocarcinoma, Multiple renal cysts |
ORPHA:2869 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Nephritis |
OMIM:216950 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Sandal gap, Micrognathia, Renal hypoplasia/aplasia, Splenomegal... |
ORPHA:1046 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili... |
OMIM:300908 |
| Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micrognathia, High palate, Toe clinodactyly, Short nose |
ORPHA:261120 |
| Opitz Gbbb Syndrome |
|
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Bicornuate uterus, Shawl scrotum, T... |
ORPHA:2745 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Coxa valga, Wide anterior fontanel, Abnor... |
ORPHA:163649 |
| Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary... |
OMIM:300266 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Galactose Mutarotase Deficiency |
|
Hepatomegaly, Cholestasis, Hypergalactosemia, Decreased liver function, Failure to thrive |
ORPHA:570422 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
| Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Scaling skin |
OMIM:607936 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Choanal atresia, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia... |
OMIM:613309 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Malar prominence, Micrognathia, Abnormality of the ureter, Abnormal rib morphology, ... |
ORPHA:2522 |
| Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa... |
ORPHA:1106 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er... |
ORPHA:447 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculopapular exanth... |
ORPHA:822 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
| Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Renal hypoplasia/aplasia, Long penis, Abnormal rib morphology, Rib fus... |
ORPHA:1988 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Anteverted nares, Depressed nasal bridge, ... |
ORPHA:171839 |
| Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Placental Site Trophoblastic Tumor |
|
Metrorrhagia, Amenorrhea |
ORPHA:99928 |
| Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Hypergalactosemia, Failure to thrive |
OMIM:230350 |
| Cowden Syndrome 1 |
|
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... |
OMIM:158350 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... |
OMIM:500009 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Renal insufficiency, Proteinuria, Foot joint contracture, Delayed eruption... |
ORPHA:90321 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Oligomenorrhea |
ORPHA:79240 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Facial palsy, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
| Peeling Skin Syndrome 6 |
|
Dry skin, Scaling skin |
OMIM:618084 |
| Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... |
ORPHA:890 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Elevated hepatic transam... |
ORPHA:71212 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Depressed nasal bridge, Micrognathia, Postaxial hand polydactyly, Microglossia, H... |
OMIM:241800 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Urethral stricture, Carious teeth, Keratitis, Motheaten muscle fibers, Muscular dystrophy, Increa... |
OMIM:226670 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Scaling skin |
OMIM:620148 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardio... |
OMIM:201475 |
| Distal Duplication 18Q |
|
Hypoplasia of penis, Anteverted nares, Choanal atresia, Prominent nasal bridge, Micrognathia, Car... |
ORPHA:1716 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis |
ORPHA:79087 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Andersen-Tawil Syndrome |
|
Abnormality of dental color, Micrognathia, Hypoplasia of the maxilla, High palate, Prominent U wa... |
ORPHA:37553 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... |
ORPHA:230 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Hypoplasia of penis, Congenital hip dislocation, High palate, Clinodactyly of the 5th ... |
ORPHA:217385 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Oligomenorr... |
ORPHA:264580 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
| Stickler Syndrome Type 1 |
|
Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Abnormal epiphysis morphology, Abnormal ... |
ORPHA:90653 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ... |
OMIM:201000 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Abnormal renal morphology, Depressed nasal ridge, Hepatosplenomegaly, Short long... |
ORPHA:221054 |
| Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Anteverted nares, Hypospadias, Short nose |
ORPHA:1355 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... |
ORPHA:567983 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Cholecystitis, Hyperbiliru... |
OMIM:235700 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... |
ORPHA:508 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
| Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Bathing Suit Ichthyosis |
|
Palmoplantar scaling skin, Epidermal acanthosis, Scaling skin |
ORPHA:100976 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa... |
OMIM:617093 |
| Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hy... |
OMIM:306000 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbu... |
OMIM:619013 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... |
ORPHA:2547 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Dysmenorrhea, Decreased serum lepti... |
ORPHA:280365 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
| Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,... |
ORPHA:439822 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of... |
OMIM:155050 |
| Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Panhypogammaglobulinemia |
OMIM:269840 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Conjugated ... |
ORPHA:79303 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu... |
OMIM:194380 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal maxilla morphology, Abnormality of orbicularis oris muscle, Abnormal mandible morphology |
ORPHA:401942 |
| Fibrochondrogenesis 1 |
|
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ... |
OMIM:228520 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... |
OMIM:300511 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Anteverted nares, Depressed nasal bridge, Pneumonia, Recurrent upper respiratory tract infections... |
OMIM:614069 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:232400 |
| Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Increased blood urea nitrogen, Nasal congestion, Hi... |
OMIM:223360 |
| Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Abnormality of the uterus |
OMIM:617805 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Failure to thrive |
ORPHA:172 |
| Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Mandibular prognathia, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron... |
ORPHA:391372 |
| Perlman Syndrome |
|
Hypoplasia of penis, Anteverted nares, Nephroblastoma, Micrognathia, High, narrow palate, Wide na... |
ORPHA:2849 |
| Dermotrichic Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Aminoaciduria, Short nose, Anemia |
ORPHA:99688 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Epidermal acanthosis |
OMIM:617526 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... |
OMIM:616860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
| 20P12.3 Microdeletion Syndrome |
|
Wolff-Parkinson-White syndrome, Broad hallux phalanx, Depressed nasal bridge, Hypoplasia of the m... |
ORPHA:261295 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hyper... |
OMIM:618641 |
| Verheij Syndrome |
|
Vertebral fusion, Anteverted nares, Renal agenesis, Broad nasal tip, Clinodactyly, Hip dislocatio... |
OMIM:615583 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Micrognathia, Short thumb, Cleft palate, Persistence of hemoglobin F, Mitral r... |
OMIM:612561 |
| Marshall-Smith Syndrome |
|
Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossoptosis, High palate, Cho... |
OMIM:602535 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
| Peho-Like Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:617507 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Hyperplasia of the maxilla |
OMIM:618383 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
| Cohen Syndrome |
|
Short metacarpal, Facial hypotonia, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxil... |
OMIM:216550 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Cirrhosis, Hepatic stea... |
ORPHA:363400 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu... |
ORPHA:93552 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Anteverted nares, Micrognathia, Bulbous nose, Clinodactyly, Wide nasal bridge, Glossoptosis, High... |
OMIM:613604 |
| Trimethylaminuria |
|
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Recurrent urinary tract infections, Bifid nasal tip, Depressed nasal ridge,... |
OMIM:616854 |
| Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperli... |
OMIM:214900 |
| Nail-Patella Syndrome |
|
Decreased muscle mass, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology,... |
ORPHA:2614 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Hypospadias, Anteverted nares, Fractured radius, Micrognathi... |
OMIM:616897 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Micrognathia, Hypoplasia of the maxilla, Short metatarsal, High palate, Short palm, Antegonial no... |
OMIM:170390 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Anteverted nares, Camptodactyly of finger, Genu rec... |
ORPHA:915 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Dry skin, Scaling skin |
OMIM:614457 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Flared ... |
OMIM:156510 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Skeletal muscle atrophy, Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contrac... |
OMIM:218000 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Gonadal dysgenesis, Polycystic ovaries |
ORPHA:1770 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
| Ichthyosis Vulgaris |
|
Absent keratohyalin granules, Dry skin |
OMIM:146700 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
| Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:35 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Prominent nasal bridge, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, High ... |
ORPHA:85279 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Uterus didelphys |
ORPHA:2491 |
| Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Nephritis, Thrombocytopenia |
OMIM:274240 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Epidermal acanthosis, Scaling skin |
OMIM:612281 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
| Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
| Familial Reactive Perforating Collagenosis |
|
Abnormal epidermal morphology |
ORPHA:79147 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
| Cystic Echinococcosis |
|
Hepatomegaly, Abnormality of the testis size, Renal cyst, Ovarian cyst, Hepatic cysts |
ORPHA:400 |
| Congenital Erythropoietic Porphyria |
|
Anisocytosis, Abnormal circulating porphyrin concentration, Red-brown urine, Leukopenia, Erythroi... |
ORPHA:79277 |
| Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:613070 |
| Fibrochondrogenesis 2 |
|
Anteverted nares, Micrognathia, Metaphyseal cupping, Cupped ribs, Metaphyseal widening, Hypoplast... |
OMIM:614524 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Micrognathia, Tapered finger, Hip dysplasia, High palate, Clinodactyly of the 5... |
OMIM:617991 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... |
OMIM:618014 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:616649 |
| Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Brachydactyly, Hypoplasia of the maxilla, Clinodactyly, Cleft palate, Right ventricula... |
OMIM:614261 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Decreased serum leptin, Decreased fertility in females, Splenome... |
OMIM:608594 |
| Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Persistence of primary teeth, Vasculitis, Hemat... |
ORPHA:375 |
| Potocki-Shaffer Syndrome |
|
2-5 finger cutaneous syndactyly, Underdeveloped nasal alae, Wide nasal bridge, Wormian bones, Mic... |
OMIM:601224 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Uterine neoplasm |
OMIM:175200 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
| Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
| Cutaneous Mastocytoma |
|
Erythema, Scaling skin |
ORPHA:79455 |
| Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
| Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... |
ORPHA:247585 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... |
OMIM:619938 |
| Cenani-Lenz Syndrome |
|
High, narrow palate, Foot oligodactyly, Synostosis of carpal bones, Hypoplasia of the ulna, Finge... |
ORPHA:3258 |
| Lowry-Maclean Syndrome |
|
Short nasal bridge, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia... |
ORPHA:2409 |
| Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Wide cranial sutures, Hypospadias, Micrognathia, Hypoplasia of the maxil... |
OMIM:601390 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin res... |
OMIM:615381 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Flexion contracture, Hip dysplasia |
OMIM:618379 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Short metacarpal, Anteverted nares, Hypospadias, Depressed nasal bridge, S... |
OMIM:614613 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Decreased serum leptin, Decreased fertility in females, Splenomegaly, Labial hypert... |
OMIM:269700 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
| Atelosteogenesis, Type Iii |
|
Radial bowing, Depressed nasal bridge, Sandal gap, Micrognathia, Hypoplasia of the maxilla, Tombs... |
OMIM:108721 |
| Autosomal Dominant Omodysplasia |
|
Short humerus, Hypoplasia of penis, Depressed nasal bridge, Micrognathia, Elbow dislocation, Pate... |
ORPHA:93328 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hypoglycemic seizures, Hepatic necrosis, Hepatic steatosis, Hypoketoti... |
OMIM:231530 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Stomatocytosis, Increased me... |
OMIM:185000 |
| Pierpont Syndrome |
|
Wide nose, Broad nasal tip, Short toe, Short foot, Short finger, Short palm, Prominent fingertip ... |
OMIM:602342 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Wide nose, Congenital hip dislocation, Left ventricular hypertrophy, Elevated circ... |
OMIM:300280 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodacty... |
ORPHA:2370 |
| Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Antev... |
ORPHA:950 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Malabsorption, Underdeveloped nasal ... |
ORPHA:2315 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hyperplasia of the maxilla, Depress... |
ORPHA:231226 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Increased muscle lipid content, Increased muscle glycogen content, Abnormality of t... |
ORPHA:254864 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Dry skin, Epidermal acanthosis, Scaling skin, Acantholysis |
OMIM:616295 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Hallux valgus, Brachydactyly, Toe syndactyly, Anteverted nares, Depressed ... |
ORPHA:1327 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose |
OMIM:612563 |
| Pfeiffer Syndrome |
|
Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
| Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
| Centrifugal Lipodystrophy |
|
Erythema, Scaling skin |
ORPHA:90156 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Recurrent pneumonia, Camptodactyly of finger, Micrognathia |
ORPHA:1495 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma... |
ORPHA:99826 |
| Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function, H... |
ORPHA:79319 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
| Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ... |
ORPHA:93110 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Anteverted nares, Depressed nasal bridge, Pneumonia, Micrognathia, Protruding tongue, ... |
OMIM:242860 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... |
ORPHA:3464 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Erythema, Scaling skin |
OMIM:607602 |
| Carey-Fineman-Ziter Syndrome |
|
Skeletal muscle atrophy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Facial palsy, Microg... |
ORPHA:1358 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Trismus,... |
OMIM:616367 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis,... |
OMIM:251450 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... |
OMIM:164745 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia |
OMIM:182900 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Coxa valga, Cone-sha... |
ORPHA:166272 |
| Codas Syndrome |
|
Delayed eruption of teeth, Short metacarpal, Hydroureter, Depressed nasal bridge, Anteverted nare... |
ORPHA:1458 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Hyperhidrosis |
ORPHA:86893 |
| Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Primary hypothyroidism |
ORPHA:300536 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte... |
OMIM:617201 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Hypoplasia of the max... |
ORPHA:397973 |
| Diamond-Blackfan Anemia 1 |
|
Micrognathia, Depressed nasal ridge, Reticulocytopenia, High palate, Triphalangeal thumb, Neutrop... |
OMIM:105650 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
| Hypotrichosis Simplex Of The Scalp |
|
Epidermal acanthosis, Scaling skin |
ORPHA:90368 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodactyly of the 5t... |
OMIM:618506 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Joint dislocation, Osteomyelitis, Facial palsy, Carious teeth, Man... |
ORPHA:53 |
| Keipert Syndrome |
|
Broad hallux phalanx, Depressed nasal bridge, Prominent nasal bridge, Short hallux, Aplasia/Hypop... |
ORPHA:2662 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Congenital Disorder Of Glycosylation, Type If |
|
Dry skin, Optic atrophy, Scaling skin |
OMIM:609180 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Psoriasiform lesion, Scaling skin |
ORPHA:284426 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, 2-3 toe c... |
OMIM:600920 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
| Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
| Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Mandibular prognathia, Short humerus, Wide nose, Short metacarpal, Depressed nasal ridge, Coxa va... |
ORPHA:2831 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Dia... |
ORPHA:101330 |
| Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Micrognathia, Reticulocytopenia, Leukopenia, High palate, Triphalangeal th... |
ORPHA:124 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Hypospadias, Anteverted nares, Depressed nasal bridge, Protruding tongue, ... |
OMIM:301040 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f... |
ORPHA:363417 |
| Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri... |
ORPHA:94088 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se... |
OMIM:617056 |
| Acromicric Dysplasia |
|
Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Abnormal... |
ORPHA:969 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as... |
ORPHA:2088 |
| Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Abnormal distal phalanx morphology of finger, Prominent nasal bridge, Hypo... |
ORPHA:2673 |
| Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Acantholysis, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Palmoplantar scaling skin, Palmo... |
OMIM:605676 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Hyponatremia, Micrognathia, Hypoplasia of the maxilla, Broad nasal tip, Re... |
OMIM:620157 |
| Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
| Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Short nose, Anteverted nares |
ORPHA:46 |
| Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Jaundice, Hepatosple... |
ORPHA:444490 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci... |
OMIM:617253 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Conjugated hype... |
OMIM:617156 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil... |
ORPHA:245 |
| Peeling Skin Syndrome 1 |
|
Scaling skin |
OMIM:270300 |
| Immunodeficiency 47 |
|
Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegaly, Decreased circulating copper... |
OMIM:300972 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated circulating creatine kinase concentration, Micrognathia, Congenital contracture, High pa... |
OMIM:615042 |
| Carney Complex |
|
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... |
ORPHA:1359 |
| Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Malar prominence, Hyperplasia of the maxilla, Depressed nasal bridg... |
ORPHA:231214 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Elevated circulati... |
ORPHA:99901 |
| Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Wide cranial sutures, Hypospadias, Depressed nasal bridge, Micrognathia,... |
OMIM:615546 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
| Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
| Kagami-Ogata Syndrome |
|
Anteverted nares, Depressed nasal bridge, Diastasis recti, Micrognathia, Hypoplasia of the maxill... |
OMIM:608149 |
| Lathosterolosis |
|
Hypoplasia of penis, Toe syndactyly, Anteverted nares, Prominent metopic ridge, Micrognathia, Bul... |
ORPHA:46059 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen |
OMIM:620085 |
| Schimke Immuno-Osseous Dysplasia |
|
Neutropenia, Nephropathy, Nephrotic range proteinuria, Depressed nasal bridge, Minimal change glo... |
ORPHA:1830 |
| Pearson Syndrome |
|
Renal cyst, Hypocalcemia, Neutropenia, Reticulocytosis, Cardiomyopathy, Hypokalemia, Hypomagnesem... |
ORPHA:699 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Micrognathia, Cleft palate, Persistence of hemoglobin F, Increased mean corpus... |
OMIM:300946 |
| Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve calcification, Aortic valve stenosis, Psoriasiform lesion |
OMIM:616298 |
| Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip |
ORPHA:2776 |
| Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Increased total bilirubin |
ORPHA:2924 |
| Trigonocephaly 1 |
|
Craniosynostosis, High, narrow palate, Long penis, Wide nasal bridge, Metopic synostosis, Short n... |
OMIM:190440 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Nephropathy, Short nose, Anteverted nares |
ORPHA:531 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Congestive heart failur... |
ORPHA:14 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Hypertrophic cardiomyopathy, Distal amyotrophy, Hip dysplasi... |
OMIM:617183 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Myocardial necrosis, Pancytopenia, Anterior rib cupping, Metaphyseal scle... |
OMIM:260400 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hip dislocation, Wide nasal bridge, Nephrocalcinosis, Joint contracture, High palate, Neutropenia... |
OMIM:618005 |
| Lujan-Fryns Syndrome |
|
Arachnodactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Hypoplasia of the ... |
ORPHA:776 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Micrognathia, Glossoptosis, High palate, Hypospadias, Anteverted nares, Hemolytic-uremic syndrome... |
OMIM:611209 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Hypertriglyceridemia, Anteverted nares, Depressed nasal bridge, Delayed er... |
ORPHA:819 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... |
OMIM:607765 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Decreased li... |
OMIM:246900 |
| Pemphigus Foliaceus |
|
Skin vesicle, Erythema, Scaling skin, Acantholysis |
ORPHA:79481 |
| Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand... |
OMIM:268310 |
| Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries |
ORPHA:79086 |
| Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries |
ORPHA:2969 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Ulnar deviation of the wrist, Micrognathia, Unilambdoid synostosis, Wide nasal ... |
OMIM:618577 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Anteverted nares, Depressed nasal bridge, Decreased heart rat... |
OMIM:619005 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, H... |
ORPHA:348 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Clark-Baraitser Syndrome |
|
Anteverted nares, Depressed nasal bridge, Sandal gap, Clinodactyly, High palate, Short nose, Low ... |
OMIM:617752 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
| Meckel Syndrome, Type 8 |
|
Depressed nasal ridge, Cleft palate, Polydactyly, Polycystic kidney dysplasia, Short nose, Enlarg... |
OMIM:613885 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Elevated circulating branched cha... |
ORPHA:2394 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, High palate, Foot ... |
OMIM:206920 |
| Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema |
ORPHA:79100 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Elevated circulating creatine kinase concentration, Skin rash, Micrognath... |
OMIM:604173 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Martsolf Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Finger joint hypermobi... |
OMIM:212720 |
| Adrenomyodystrophy |
|
Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Thick nasal alae, Micrognathia, Retrognathia, Supernumerary ribs, Short nose, Meckel diverticulum |
ORPHA:163961 |
| Tetrasomy 5P |
|
Anteverted nares, Overlapping toe, Short hallux, Micrognathia, Long fingers, Wide anterior fontan... |
ORPHA:3309 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Abnormal metacarpal morphology, Malar flattening, Inf... |
ORPHA:93262 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Short nose |
ORPHA:2429 |
| Osteoglophonic Dysplasia |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure, High palate... |
OMIM:166250 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion... |
OMIM:613870 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Epidermal acanthosis, White scaling skin |
OMIM:604777 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Micrognathia, Hypertrophic cardiomyopathy, Hip dysplasia, 3-Methylglutacon... |
ORPHA:496790 |
| Distal Deletion 10Q |
|
Micrognathia, Prominent nose, 2-3 toe cutaneous syndactyly, Functional abnormality of the bladder... |
ORPHA:96148 |
| 3C Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Depressed nasal brid... |
ORPHA:7 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal alae, ... |
ORPHA:2083 |
| Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Depressed nasal bridge, Proteinuria, Intestinal malrotation, Broad nas... |
OMIM:222448 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Small for gestational age, Hyperinsulinemia, Hepatosplenomegaly, Incr... |
ORPHA:79237 |
| Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Narrow nasal ridge, Micrognathia, Hyperlipidemia, Flexion contracture, Stage 5 chronic kidney dis... |
OMIM:608612 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Hypoplasia of the maxil... |
ORPHA:178303 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity |
OMIM:615996 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Antley-Bixler Syndrome |
|
Anteverted nares, Choanal atresia, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Abn... |
ORPHA:83 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotr... |
OMIM:614921 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Prominent nasal bridge |
OMIM:300676 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Hypoplasia of the premaxilla, Intestinal malrotation, Micrognat... |
ORPHA:2166 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hypoglycemia, Elevated circulating aspart... |
OMIM:256810 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic acidemia, Elevated urinary 3-hydroxybutyric acid, Anteverted nares, Depressed nasal... |
OMIM:614105 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Depressed nasal bridge, Micrognathia, Missing ribs, Depressed nasal ridge, Neph... |
OMIM:608022 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Distal lower limb amyotrophy, Brachydactyly, Facial hypotonia, Prominent n... |
OMIM:300534 |
| Smith-Kingsmore Syndrome |
|
Depressed nasal bridge, Diastasis recti, Short proximal phalanx of finger, Wide anterior fontanel... |
OMIM:616638 |
| Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin |
OMIM:604536 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Recurrent upper... |
OMIM:613101 |
| Glutamine Deficiency, Congenital |
|
Hypoglutaminemia, Depressed nasal bridge, Anteverted nares, Flexion contracture, Wide nasal bridg... |
OMIM:610015 |
| Pycnodysostosis |
|
Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypoplasia of the ma... |
ORPHA:763 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Hypocalcemia, Ascites |
ORPHA:100025 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... |
OMIM:162000 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Snail-like ilia, Cleft pal... |
OMIM:269250 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, High palate, Short nose |
OMIM:613544 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Prominent nasal bridge, Intestinal malrota... |
ORPHA:401935 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the adrenal glands, Aplasia/Hypoplasia of the thymus, Polycystic ovaries |
ORPHA:2176 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Po... |
OMIM:151660 |
| Bazex Syndrome |
|
Scaling skin |
ORPHA:166113 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
| Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
| Mpdu1-Cdg |
|
Optic atrophy, Scaling skin |
ORPHA:79323 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Wide nose, Hypospadias, Anteverted nares, Depressed nasal bridge, M... |
OMIM:257300 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
| Ichthyosis With Confetti |
|
Scaling skin |
OMIM:609165 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Anteverted nares, Hypospadias, Depressed nasal bridge, Micrognathia, Proximal placeme... |
OMIM:217980 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious c... |
OMIM:608154 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Donnai-Barrow Syndrome |
|
Depressed nasal bridge, Proteinuria, Intestinal malrotation, Congenital diaphragmatic hernia, Wid... |
ORPHA:2143 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
| Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy,... |
OMIM:619418 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Anteverted nares, Micrognathia, Short foot, Short palm, Short nose |
ORPHA:93299 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Hypercalcemia, Depressed nasal bridge, ... |
OMIM:614732 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Persistence of ... |
OMIM:259710 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... |
ORPHA:91139 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of the menstrual cycle |
ORPHA:721 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatomegaly, Chronic act... |
OMIM:203800 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Rocker bottom foot, Micrognathia, Recurrent upper respiratory tract i... |
ORPHA:3078 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increas... |
ORPHA:90041 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Failure to thrive, Hepatic steatosis, Decreased liver function |
ORPHA:70472 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Hypospadias, Micrognathia, High palate, Short nose |
ORPHA:1913 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Anteverted nares, Carious teeth, Abnormality of the elbow, Hypertrophic cardiomyopathy, Pulmonic ... |
ORPHA:2701 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Anteverted nares, Elevated circulating c... |
OMIM:619743 |
| Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Lathosterolosis |
|
Toe syndactyly, Anteverted nares, Increased mean platelet volume, Micrognathia, Acanthocytosis, P... |
OMIM:607330 |
| Lesch-Nyhan Syndrome |
|
Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia |
ORPHA:510 |
| Achondrogenesis Type 1B |
|
Anteverted nares, Micrognathia, Abnormal rib morphology, Short foot, Short nose |
ORPHA:93298 |
| Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... |
ORPHA:201 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Depressed nasal bridge, Hypospadias, Polydactyly, Short nose, Hypoplastic ischia |
OMIM:616910 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Iliac crest serration, Metaphyseal cupping, ... |
OMIM:613320 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Postaxial polydactyly, Micrognathia, Delayed closu... |
OMIM:618460 |
| Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Vesicourete... |
ORPHA:391641 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Tachycardia, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly... |
ORPHA:485405 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b... |
ORPHA:1225 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, Abnormality of... |
ORPHA:848 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
| Ohdo Syndrome |
|
Anteverted nares, Proteinuria, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplasi... |
OMIM:249620 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... |
OMIM:608836 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Slender nose, Skeletal muscle atrophy, Micrognathia, Joint contracture, Short nose |
OMIM:615419 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ne... |
ORPHA:85450 |
| Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones... |
ORPHA:1798 |
| Neurooculocardiogenitourinary Syndrome |
|
Redundant neck skin, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial se... |
OMIM:618652 |
| Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
| Chromosome 17Q12 Deletion Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Renal cyst, Ovarian cyst, Aplasia of the vagina, Ap... |
OMIM:614527 |
| Holoprosencephaly 9 |
|
Depressed nasal bridge, Hypoplasia of the premaxilla, Hypoplasia of the maxilla, Postaxial hand p... |
OMIM:610829 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypoplasia of penis, Brachydactyly, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnor... |
ORPHA:1295 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Depressed nasal bridge, Penile freckling, Preaxial hand polydactyly, Foot p... |
ORPHA:210548 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Hyperammonemia |
ORPHA:28 |
| Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Abnormal mandib... |
ORPHA:83451 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Fifth finger distal phalanx cl... |
OMIM:257850 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis, Camptodacty... |
OMIM:259600 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
| Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Scaling skin |
ORPHA:79456 |
| Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Anteverted nares, Sandal gap, Short toe, Anterior open-bite malocclusion, High ... |
OMIM:617877 |
| Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hypocholesterolemia, Increased hepatocellula... |
ORPHA:71 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Syndactyly, Mesoa... |
OMIM:146510 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, High palate, Short nose |
OMIM:614744 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Cleft palate, Malar flattenin... |
ORPHA:79113 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Long nose, T lymphocytopenia, Narrow greater sciatic notch,... |
ORPHA:508533 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,... |
OMIM:619356 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Tricuspid regurgitation, Noncompactio... |
ORPHA:508542 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
| Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis... |
ORPHA:560 |
| Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:613327 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Underdeveloped nasal alae, Micrognathia, Aplasia/Hypoplasia of... |
ORPHA:1234 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartil... |
OMIM:610828 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of female external genitalia, Erythema, Epidermal acanthosis |
ORPHA:83453 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Micrognathia, Long fingers, Ulnar deviation of finger, Short n... |
ORPHA:1895 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Finger syndactyly, Short nose, Micrognathia |
ORPHA:1514 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Neuropathic arthropathy, Elevated circulating creatinine co... |
OMIM:223900 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and... |
ORPHA:90652 |
| Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism, Enlarged kidney |
OMIM:618188 |
| Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Abnormality of the nose, Splenomegaly, Vasculit... |
ORPHA:575 |
| Relapsing Fever |
|
Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein concentration, Thro... |
ORPHA:91547 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Depressed nasal bridge, Narrow nasal ridge, Micrognathia, Prominent nose, Rocker bot... |
ORPHA:363528 |
| Premature Aging Syndrome, Penttinen Type |
|
Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne... |
OMIM:601812 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Failure to thrive, Reduced natural killer cell activity, Agammaglobulinemia, Decrea... |
OMIM:300400 |
| Gomez-Lopez-Hernandez Syndrome |
|
Anteverted nares, Craniosynostosis, Wide anterior fontanel, High palate, Wormian bones, Malar fla... |
OMIM:601853 |
| Crouzon Syndrome |
|
Choanal atresia, Hypoplasia of the maxilla, Narrow palate, Multiple suture craniosynostosis, Conj... |
ORPHA:207 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulati... |
OMIM:235200 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, Syndactyly, Depressed nasal bridge, Bulbous nose, Clinodactyly, Wide nasal... |
ORPHA:369891 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:617049 |
| Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Skeletal muscle atrophy, Anteverted nares, Arachnodactyly, Broad hallux, Hypoplasia of the maxill... |
ORPHA:481152 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia |
ORPHA:93950 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Bow... |
OMIM:241500 |
| Coach Syndrome 3 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht... |
OMIM:619113 |
| Aicardi Syndrome |
|
Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Malabsorption, Hiatus hernia... |
ORPHA:50 |
| Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hypop... |
OMIM:208500 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:300635 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Adrenal hypoplasia |
OMIM:619151 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Primary ame... |
OMIM:600955 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcaneus,... |
ORPHA:163966 |
| Autosomal Recessive Omodysplasia |
|
Abnormal morphology of the radius, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Mi... |
ORPHA:93329 |
| C Syndrome |
|
Short metacarpal, Toe syndactyly, Anteverted nares, Micrognathia, Clinodactyly, Postaxial hand po... |
OMIM:211750 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Neurogenic bladder, Wide nose, Elevated circulating creatine kinase conc... |
OMIM:608779 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Very long c... |
ORPHA:98908 |
| Skraban-Deardorff Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Recurrent otitis media, Hyp... |
OMIM:617616 |
| Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
| Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypert... |
OMIM:619487 |
| Distal Xq28 Microduplication Syndrome |
|
Epistaxis, Broad nasal tip, Hypoplasia of the maxilla, Metatarsus adductus, Recurrent upper respi... |
ORPHA:293939 |
| Mal De Meleda |
|
Erythema, Epidermal acanthosis |
ORPHA:87503 |
| Fg Syndrome 5 |
|
Anteverted nares, Hypospadias, Depressed nasal bridge, Metopic synostosis, Short nose |
OMIM:300581 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Aicardi Syndrome |
|
Prominence of the premaxilla, Anteverted nares, Block vertebrae, Proximal placement of thumb, Hia... |
OMIM:304050 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Hypoplasia of the maxilla,... |
OMIM:305400 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Proteinuria, Glomerulonephritis, Short iliac bones, Metaphyseal widening, Elevated circulating cr... |
OMIM:614376 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Antever... |
ORPHA:40366 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Hypospadias, Micrognathia, Hypoplasia of the maxilla, Bilateral choana... |
ORPHA:314679 |
| Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Intestinal malrotation, Narrow nose, Arachnodactyly, Carious teeth, Long nose, Sanda... |
OMIM:617602 |
| Acute Generalized Exanthematous Pustulosis |
|
Skin vesicle, Purpura, Scaling skin, Acantholysis |
ORPHA:293173 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen... |
OMIM:618961 |
| Familial Benign Copper Deficiency |
|
Acne, Decreased circulating copper concentration, Wide nasal bridge, Diaphyseal thickening, Anemia |
ORPHA:1551 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Dry skin, Scaling skin |
OMIM:618373 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Anteverted nares, Micrognathia, Persistence of hemoglobin F, Prominent nasal tip, Retrognathia |
OMIM:617101 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
| Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru... |
ORPHA:541423 |
| Fanconi Anemia, Complementation Group S |
|
Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Underdeveloped nasal alae,... |
OMIM:617883 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge |
ORPHA:438178 |
| Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Hip contracture, Joint dislocation, Shoulder flexion contracture, Rocker b... |
OMIM:193700 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Short metacarpal, Brachydactyly, Anteverted nar... |
OMIM:101800 |
| Toluene Embryopathy |
|
Tapered finger, Micrognathia, Abnormal localization of kidney, Hypoplasia of the zygomatic bone, ... |
ORPHA:1920 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Lateral displacement of the femoral head, Neutropenia, Depressed nasa... |
OMIM:242900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Narrow nasal bridge, Hyperextensibility of the finger joints, Arachnodactyly, Prominent nasal bri... |
OMIM:309520 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Anteverted nares, Cleft soft palate, Broad hallux, Micrognathia, Broad nasal tip, Sandal gap, Cli... |
OMIM:618529 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Bowing of the long bones, Hydroureter, Depressed nasal bridge... |
OMIM:259775 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Primary Familial Polycythemia |
|
Epistaxis, Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
| Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality, Abnormality of ... |
ORPHA:234 |
| Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Depressed nasal bridge, Sandal gap, Micrognathia, Tapered finger, Bulbous nose,... |
OMIM:617061 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Lobulated tongue, Clinodactyly of t... |
OMIM:613443 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micrognathia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of th... |
OMIM:271665 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Anteverted nares, Prominent nasal bridge, High palate, Prominent fingertip pads, Short nose |
OMIM:300558 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Coronal hypospadias, Eso... |
OMIM:619859 |
| Myhre Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Abnormal penis morphology, Brachydactyly, Hypos... |
ORPHA:2588 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Limb joint contracture, Epistaxis, Subdural hem... |
ORPHA:169802 |
| Alkuraya-Kucinskas Syndrome |
|
Depressed nasal bridge, Anteverted nares, Overlapping toe, Micrognathia, Clinodactyly, Cutaneous ... |
OMIM:617822 |
| Non-Distal Duplication 13Q |
|
Arachnodactyly, Micrognathia, Postaxial hand polydactyly, High palate, Short nose |
ORPHA:1702 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93260 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Brachydactyly, Anteverted nares, Cleft soft palate, Depressed nasal bridge, Micrognathia, Clinoda... |
OMIM:616331 |
| White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
| Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Conjugated hyperbilirubin... |
ORPHA:30391 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Cleft palate, 2-3 toe syndactyly, Conj... |
OMIM:106260 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Delayed closure of the anterior fontanelle, Carious teeth, Small hand, Thin ribs, Sho... |
OMIM:244460 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Wide nose, Short metacarpal, Anteverted nar... |
ORPHA:192 |
| Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... |
ORPHA:2965 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Conjunctivitis, Tricuspid regurgitation, Hepato... |
ORPHA:505248 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Depressed nasal bridge, Hip dislocation, Hepatosplenomegaly, Polycystic kidney dysplasia, Short nose |
OMIM:608776 |
| Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Cryptorchidism, Decreased fertility, Abnormality of the uterus, Dec... |
ORPHA:2970 |
| Trisomy 12P |
|
Micrognathia, Wide nasal bridge, Cleft palate, Abnormality of the urinary system, Clinodactyly of... |
ORPHA:1699 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro... |
OMIM:619064 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Prominent nasal bridge, Micr... |
ORPHA:193 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Depressed nasal bridge, Arachnodactyly, Congenital diaphragmatic he... |
OMIM:614437 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Thrombocytopenia, Dental malocclusion, Hepatosplenomegaly, Hypocalcemia, Osteoscle... |
ORPHA:210110 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2nd finger, A... |
OMIM:612394 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ... |
ORPHA:261211 |
| Au-Kline Syndrome |
|
High palate, Clinodactyly of the 5th finger, Vesicoureteral reflux, Bifid uvula, Prominent metopi... |
OMIM:616580 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Persistent open anterior fontanelle, Arachnodactyly, Facial hypotonia, Mitral regurgitation, High... |
OMIM:615539 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Irregular menstruation, Thyroiditis, Polycystic ovaries, Menorrhagia, Delayed puber... |
ORPHA:79259 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
| Vitamin K Antagonist Embryofetopathy |
|
Brachydactyly, Depressed nasal bridge, Anteverted nares, Choanal atresia, Macroglossia, Epiphysea... |
ORPHA:1914 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Cardiomyopa... |
ORPHA:27 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, Hypoplasia of the thymus, High palate, Otitis media, Neutropenia, Perianal abscess, W... |
OMIM:612541 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth to... |
OMIM:601559 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
| Burn-Mckeown Syndrome |
|
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Glomerulopathy, Vasculi... |
ORPHA:183 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplasia of the uterus, Hypoplastic labia majora, Gonadal dysgenesis, Clitoral hypoplasia, Scal... |
OMIM:618419 |
| Nablus Mask-Like Facial Syndrome |
|
Anteverted nares, Depressed nasal bridge, Short hallux, Tapered finger, Hypoplasia of the maxilla... |
OMIM:608156 |
| Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Micrognathia, Absent thumb, Short thumb, Bulbous nose, Hypoplasia of the radius, Ho... |
OMIM:613951 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Anteverted nares, Arachnodactyly, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metat... |
OMIM:182212 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, High palate, Short palm, Micropenis, Duplication of the distal phalanx of hand, Dis... |
OMIM:180700 |
| Senior-Loken Syndrome 4 |
|
Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Clinodactyly of the 5th finger, Broad columella, Finger synd... |
ORPHA:2710 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias, Depressed nasal bridge, Hypoplasia of the maxilla, Wide nasal bridge |
ORPHA:782 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Epidermal acanthosis |
ORPHA:79395 |
| Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Ventricular tachycardia, Iron deficiency anemia, High p... |
OMIM:300855 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacolon, Abnormal hemoglob... |
ORPHA:847 |
| Oculodentodigital Dysplasia |
|
Uveitis, High palate, Joint contracture of the 5th finger, Anteverted nares, 4-5 finger syndactyl... |
OMIM:164200 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Anal stenosis, Anteverted nares, Ureteral hypoplasia, Depr... |
OMIM:614080 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Proximal placement of thumb, Abnormality of the elbow, Small han... |
ORPHA:3121 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Anteverted nares, Depressed nasal bridge,... |
OMIM:615398 |
| Tarp Syndrome |
|
Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Hypoplasia of the radi... |
OMIM:311900 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Anteverted nares, Overlapping toe, Flexion contracture, Wide nasal bridge, H... |
OMIM:619383 |
| Baraitser-Winter Syndrome 1 |
|
Anteverted nares, Duplication of phalanx of hallux, Wide nasal bridge, Aortic valve stenosis, Mic... |
OMIM:243310 |
| Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Micrognathia, Flexion contracture, Narrow palate, Ankle clonus, Clinodacty... |
OMIM:614222 |
| Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Finger syndact... |
ORPHA:87 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Short nose |
ORPHA:833 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Calcaneal epiphyseal stippling, Broad nasal tip, Hypoplasia of the maxilla, Abnormal ossification... |
ORPHA:79345 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Clinodactyly of the 5th finger, Depressed nasal bridge, Wide nasal bridge |
OMIM:167730 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the max... |
OMIM:129400 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypoalbuminemia, Macrovesicular hepatic steatosis, D... |
OMIM:618329 |
| Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:454831 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Cleft palate, Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia,... |
OMIM:616738 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Elevated circulating C-reactive protein concentrati... |
ORPHA:324964 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Microretrognathia, Decreased muscle mass, Recurrent joint dislocation, Recurrent skin infections,... |
ORPHA:2953 |
| Hand-Foot-Genital Syndrome |
|
Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinodactyly of the 5t... |
OMIM:140000 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
| 8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Prominent nasal bridge, Proximal placement of thumb, Micrognat... |
ORPHA:251071 |
| Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Aganglionic megacolon, Prominent nasal bridge, Tapered finger, Hypoplasia o... |
OMIM:609460 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Anteverted nares, Hypospadias, Intestinal malrotation, Depressed nasal bridge, Prominen... |
OMIM:618316 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
| X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Bulbous nose |
ORPHA:93945 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
| Lead Poisoning |
|
Delayed eruption of teeth, Decreased HDL cholesterol concentration, Skin rash, Chronic kidney dis... |
ORPHA:330015 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insuli... |
ORPHA:1667 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Epistaxis, Prominent nos... |
OMIM:185070 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur... |
ORPHA:2552 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe... |
OMIM:613805 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Increased size of nasopharyn... |
ORPHA:457395 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B... |
OMIM:618618 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Gaucher Disease, Perinatal Lethal |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatospl... |
OMIM:608013 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Renal cyst, Coxa vara, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, Scapul... |
OMIM:272460 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Congenital diaphragmatic hernia, Depressed nasal ridge,... |
OMIM:618774 |
| Cleft Velum |
|
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Aspiration pneumonia,... |
ORPHA:99772 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Microretrognathia, Short nose, Postaxial hand polydactyly |
ORPHA:1389 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Large... |
OMIM:616026 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypohidrosis |
OMIM:615704 |
| Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Short metacarpal... |
OMIM:108720 |
| Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Depressed nasal bridge, Micrognathia, Coxa valga, Hammertoe, Hip dysplasia, High palate, Distal a... |
OMIM:619833 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Vertebral fusion, 2-3 toe syndactyly, Narrow palate, Mitral reg... |
ORPHA:313892 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the 5th finger, Ves... |
OMIM:618828 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Renal malrotation, Anteverted nares, Depressed nasal bridge, Underdeve... |
OMIM:615866 |
| Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Osteomyelitis, Femur fracture, Facial palsy, Craniosynostosis, Carious teeth, Splen... |
OMIM:259700 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Depressed nasal bridge, Anemia, Aminoaciduria, High palate, Neutropenia, T... |
OMIM:614520 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Carious teeth, Ab... |
ORPHA:2791 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficiency, Submucous cle... |
OMIM:614701 |
| Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bun... |
ORPHA:373 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Hyperammonemia, Me... |
OMIM:251000 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Congenital diaphr... |
OMIM:618454 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... |
ORPHA:73263 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Persistence of primary teeth, Recurrent upper respiratory tract infections, Recurr... |
OMIM:619769 |
| Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Hypoplasia of the maxilla, Aglossia, Choanal stenosis, Malar flattening, Coronal cr... |
OMIM:241310 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Wide nose, Broad hallux, Prominent nasal bridge, Micrognathia, Slender f... |
ORPHA:251028 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of... |
OMIM:274000 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hyperhomocystinemia, Hypermethioninemia, Failure to thrive, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Deviation of the 5th toe, Clin... |
ORPHA:391408 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Abnormal nasopharynx morphology, Increased density of long bones, Tibial bowing, Hypoplasia of fi... |
OMIM:269150 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Dysgammaglobulinemia, Elevated circulating C-react... |
OMIM:308240 |
| 3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... |
OMIM:610198 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hyp... |
ORPHA:746 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Anteverted nares, Hypospadias, Overlapping toe, Micrognathia, Carious teeth, Underdeveloped nasal... |
OMIM:613026 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, High palate,... |
OMIM:219200 |
| Greenberg Dysplasia |
|
Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Depressed nasal ridge, Tetraphocomelia, Hyp... |
OMIM:215140 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro... |
ORPHA:93259 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Cleft pala... |
OMIM:615716 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Sandal gap, Micrognathia, Prominent nose, Bulbous nose, Depressed nasal ri... |
OMIM:156200 |
| Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Bicarbonaturia, Glycosuria, ... |
OMIM:229600 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Macrocephaly/Autism Syndrome |
|
Depressed nasal bridge, Penile freckling, Splenomegaly, High palate, Recurrent otitis media, Shor... |
OMIM:605309 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture... |
OMIM:224690 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Clinodactyly, Short nose, Limb hypertonia |
OMIM:618087 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec... |
ORPHA:94059 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Wide nose, Vertebral fusion, Anteverted nares, Overlappi... |
OMIM:213980 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Scapular winging, Tapered toe, Shoulder flexion contracture, Hypoplasia of the m... |
OMIM:620369 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
| Dyskeratosis Congenita |
|
Esophageal stenosis, Telangiectasia of the skin, Abnormality of neutrophils, Malabsorption, Hypop... |
ORPHA:1775 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Prominent nose, Micrognathia, High palate, Broad thumb, Clinodactyly, Long hallux,... |
OMIM:620194 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin, Hepatosplenomegaly |
OMIM:606367 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Aganglionic megacolon, Broad nasal tip, Tapered finger, Short toe, Abnorma... |
OMIM:239300 |
| Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Splenomegaly, Jaun... |
ORPHA:231222 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Ectopic kidney, Micrognathia, High, narrow palate, Congenital diaphr... |
OMIM:122470 |
| Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
| Achondrogenesis |
|
Short nose, Anteverted nares, Micrognathia |
ORPHA:932 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Tibial bowin... |
ORPHA:96334 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Fetal pyelectasis, Nephrocalcinosis, Clinod... |
ORPHA:264450 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac... |
OMIM:211380 |
| Proteus Syndrome |
|
Splenomegaly, Epidermal acanthosis |
OMIM:176920 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Anteverted nares, Abnormal soft palate morphology, Short nose, Anal at... |
ORPHA:884 |
| Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
| Degcags Syndrome |
|
Micrognathia, Prominent nose, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hig... |
OMIM:619488 |
| 7Q31 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla... |
ORPHA:251061 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Wide nasal bridge, Narrow palate, Hypoplasia of teeth, Short nose, ... |
OMIM:620250 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the tonsils, Abnormal nerve conduction velocity |
ORPHA:93476 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Brachydactyly, Depressed nasal bridge, Anteverted nares, Flat capital femo... |
OMIM:271510 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Transient hyperlipidemia, Hepatic failure |
ORPHA:156 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic h... |
OMIM:602579 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Portal hypertension, Cardiomegaly, Hepatocel... |
ORPHA:465508 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
| Desmosterolosis |
|
Depressed nasal bridge, Intestinal malrotation, Renal agenesis, Micrognathia, Abnormality of the ... |
ORPHA:35107 |
| Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... |
OMIM:619377 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Short nose, Sandal gap, Congenital diaphragmatic hernia |
OMIM:300887 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Hypop... |
ORPHA:2554 |
| Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Hypospadias, Erythroid hypoplasia, Reticulocytopenia, Leukopenia |
OMIM:612528 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormality of the temporomandibular joint, Ankle ... |
ORPHA:85408 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Hypospadias, Carious teeth, Small hand, Hypoplasia of the z... |
ORPHA:1786 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Cholangitis, Micrognathia, Short metatarsal, Renal cyst, High palate, Nephr... |
OMIM:266920 |
| Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Thrombo... |
OMIM:227650 |
| Denys-Drash Syndrome |
|
True hermaphroditism, Septate vagina, Gonadal tissue inappropriate for external genitalia or chro... |
OMIM:194080 |
| Marshall-Smith Syndrome |
|
Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,... |
ORPHA:561 |
| Alg9-Cdg |
|
Villous atrophy, Micrognathia, Narrow greater sciatic notch, Bifid uvula, Microretrognathia, Prom... |
ORPHA:79328 |
| Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Thrombo... |
OMIM:600901 |
| Kleefstra Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Renal insufficiency, Hypos... |
ORPHA:261494 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Micrognathia, Recurrent pneumo... |
ORPHA:314655 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Splenomegaly, Obesity, Cholestasis, Glucose intolerance... |
OMIM:615630 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Erythema, Scaling skin |
ORPHA:294023 |
| Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
| Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis, Bone marrow hypocellularity, Hypothyroidism, Ne... |
ORPHA:445038 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Abnormal mus... |
ORPHA:367 |
| Down Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Sandal gap, Protruding tongue, Renal hypoplasia/ap... |
ORPHA:870 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:601499 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia, Micrognathia, Unilateral radial aplasia, Tapered finger, Par... |
ORPHA:476126 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Syndactyly, Tricuspid regurgitation, Anteverted nares, Depressed nasal bridge, Micrognathia, Clin... |
OMIM:616894 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Tricuspid regurgitation, Anteverted nares, Hypoplasia of the maxilla, Clinodac... |
ORPHA:228396 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Ecchymosis, Scaling skin |
ORPHA:36234 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin |
ORPHA:35173 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Depressed nasal bridge, Abnormal dental enamel morphology, Sandal gap, Cleft... |
ORPHA:1812 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Volvulus, Short nose |
OMIM:617802 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Prominent nasal bridge, Craniosynostosis, Micrognathia, Cari... |
ORPHA:96097 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping, Depressed nasal ridge, Metaphyseal cupping of proximal pha... |
OMIM:300863 |
| Peho Syndrome |
|
Short nose, Retrognathia, Tapered finger |
OMIM:260565 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| 20Q11.2 Microduplication Syndrome |
|
Prominent metopic ridge, Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Short foot,... |
ORPHA:363659 |
| Wolman Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Ascites, Adrenal insufficiency, Hepatic failure |
ORPHA:75233 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Telangiectasia of the ... |
OMIM:616007 |
| Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Aganglionic megacolon, Anteverted nares, Esophageal atresia... |
ORPHA:59315 |
| Graft Versus Host Disease |
|
Scaling skin, Hepatosplenomegaly |
ORPHA:39812 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Hyperplasia of the maxilla |
OMIM:613671 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Abnormality of the kidney, Sagittal craniosynostosis, Micrognathia, Small... |
ORPHA:459061 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Urethral stricture, Carious teeth, Esophageal stricture, Gastrointestinal inflammation, Abnormali... |
ORPHA:79409 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Hypertension, Se... |
OMIM:617021 |
| Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insufficiency, Failure to... |
OMIM:609981 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Overlapping fingers, Decreased heart rate variability, Malabs... |
OMIM:619004 |
| Rubinstein-Taybi Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Prominent nose, Flexion contracture... |
OMIM:180849 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Decreased muscle mass, Congenital hip dislocation, Anteverted nares, Delayed closure of the anter... |
ORPHA:357074 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Ileus, He... |
OMIM:304790 |
| Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Wide nasal bridge, Aminoacidur... |
ORPHA:30 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Anal stenosis, Aganglionic megacolon, Broad hallux, Broad nasal tip, Wide nasal bridge, Cleft pal... |
OMIM:614749 |
| Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, M... |
OMIM:227330 |
| Micro Syndrome |
|
Hypoplasia of penis, Anteverted nares, Micrognathia, Wide nasal bridge, Abnormal localization of ... |
ORPHA:2510 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Increased circulating ferritin concentration, Leukocytosis, Lym... |
OMIM:618886 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Anteverted nares, Underdeveloped nasal alae, Renal cyst, Glossoptos... |
ORPHA:2031 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac w... |
OMIM:263650 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta |
OMIM:601216 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Micr... |
OMIM:200990 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... |
ORPHA:37042 |
| Crouzon Syndrome |
|
Mandibular prognathia, Sagittal craniosynostosis, Hypoplasia of the maxilla, Keratitis, High pala... |
OMIM:123500 |
| Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Finger syndactyly, Renal insufficiency, Anteverted nares, Depressed nasal ... |
OMIM:181270 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Stillbirth, Neonatal death, ... |
ORPHA:85212 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Hepatosplenomegaly |
ORPHA:169154 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Prominent metopic ridge, Depressed nasal bridge, Bulbous nose, Macroglossi... |
ORPHA:261144 |
| Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Skeletal muscle atrophy, Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short ... |
OMIM:616420 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose |
OMIM:300143 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hypoplasia of the maxilla, Hip dislocation, Malar flattening, Absent extraocular muscles |
OMIM:109120 |
| Congenital Factor Ii Deficiency |
|
Epistaxis, Intracranial hemorrhage, Intramuscular hematoma, Microscopic hematuria, Joint hemorrha... |
ORPHA:325 |
| Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Micrognathia, Wide nasal bridge, Cleft palate, Joint... |
OMIM:247200 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Depressed nasal bridge, Promin... |
ORPHA:794 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Prominent nose, Metaphyseal sclerosis, Abnormal mandible cond... |
ORPHA:2976 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Hypoplastic scapulae, Anteverte... |
OMIM:200600 |
| Tempi Syndrome |
|
Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Polycyt... |
ORPHA:284227 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Mandibular prognathia, Anteverted nares, Steroid-dependent nephrotic syndrome, Urinary incontinen... |
OMIM:300912 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Hypoalbuminemia, ... |
ORPHA:85443 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Abnormality of thumb p... |
ORPHA:235 |
| Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:79292 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Micrognathia, ... |
OMIM:115150 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... |
OMIM:609057 |
| Opsismodysplasia |
|
Depressed nasal bridge, Tapered finger, Splenomegaly, Squared iliac bones, Hypoplastic pubic bone... |
ORPHA:2746 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap... |
ORPHA:2557 |
| Immunodeficiency 32B |
|
Hepatomegaly, Splenomegaly, Impaired oxidative burst, Hypoalbuminemia, Abnormal circulating IgG l... |
OMIM:226990 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru... |
OMIM:233450 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Arachnodactyly, Abnormal thumb morph... |
ORPHA:2719 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Esophageal atresia,... |
OMIM:610536 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
| Jacobsen Syndrome |
|
Anteverted nares, Hypospadias, Depressed nasal bridge, Micrognathia, Missing ribs, Pyloric stenos... |
OMIM:147791 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,... |
ORPHA:93258 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytop... |
ORPHA:88 |
| Opsismodysplasia |
|
Short palm, Short metacarpal, Depressed nasal bridge, Anteverted nares, Anterior rib cupping, Met... |
OMIM:258480 |
| Cartilage-Hair Hypoplasia |
|
Heart block, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Hypocalcemia, Sh... |
ORPHA:175 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Failure t... |
OMIM:616263 |
| Zttk Syndrome |
|
Aortic regurgitation, Depressed nasal bridge, Polyuria, Unilateral renal agenesis, Craniosynostos... |
OMIM:617140 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hyperlipidemia, Primary hyperparathyroidism, Increased body weight, Glucose intolerance, Increase... |
ORPHA:189427 |
| Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated circulating creatine kinase concentration, Micrognathia, Dental malocclusion, Contractur... |
ORPHA:329178 |
| Icf Syndrome |
|
Depressed nasal bridge, Abnormality of neutrophils, Protruding tongue, Micrognathia, Malabsorptio... |
ORPHA:2268 |
| D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
| Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Absent thumb, Thrombo... |
OMIM:227645 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Myopathy, Hydronephrosis |
OMIM:278300 |
| Trisomy 20P |
|
Finger syndactyly, Hypospadias, Anteverted nares, Camptodactyly of finger, Micrognathia, Abnormal... |
ORPHA:261318 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Cholestasis, Hypo... |
OMIM:608104 |
| Shprintzen-Goldberg Syndrome |
|
Bowing of the long bones, Anteverted nares, Arachnodactyly, Camptodactyly of finger, Micrognathia... |
ORPHA:2462 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia |
OMIM:619433 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the maxilla, Wide nasal bridge,... |
ORPHA:306542 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis |
ORPHA:2199 |
| Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Choanal steno... |
ORPHA:1790 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic... |
OMIM:617052 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Aortic regurgitation, Tricuspid regurgitation, Anteverted nares, Overlappi... |
OMIM:617402 |
| Bainbridge-Ropers Syndrome |
|
Anteverted nares, Intestinal malrotation, Prominent nasal bridge, Micrognathia, Depressed nasal b... |
OMIM:615485 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Jaundic... |
ORPHA:20 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypothyroidism, Hypoalbuminemia, ... |
OMIM:212065 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
| 19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Hyperlipidemia, Hepatic steatosis, Obesity |
ORPHA:254346 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Malabsorption, Allergic rhin... |
ORPHA:2070 |
| Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Hypoch... |
ORPHA:440713 |
| Gapo Syndrome |
|
Anteverted nares, Depressed nasal bridge, Facial palsy, Micrognathia, Delayed closure of the ante... |
OMIM:230740 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Synostos... |
ORPHA:1507 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Microretrognathia, Overlapping toe, Bulbous nose, Wide nasal bridge, Cleft palate, Short nose, Re... |
OMIM:618571 |
| Schinzel-Giedion Syndrome |
|
Micrognathia, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Choanal stenosis, B... |
ORPHA:798 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Weight loss, Increased circulating ant... |
ORPHA:507 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Trisomy 10P |
|
Thumb contracture, Decreased muscle mass, Wide cranial sutures, Anteverted nares, Depressed nasal... |
ORPHA:171929 |
| Tarp Syndrome |
|
Finger syndactyly, Extramedullary hematopoiesis, Anteverted nares, Rocker bottom foot, Postaxial ... |
ORPHA:2886 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Rat-Bite Fever |
|
Myocarditis, Pericarditis, Scaling skin, Endocarditis |
ORPHA:31205 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micrognathia, Aplasia of the ulna, ... |
ORPHA:2879 |
| Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
| Fetal Valproate Spectrum Disorder |
|
Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:612714 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Renal hypoplasia, Renal cyst, Ol... |
ORPHA:97362 |
| Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent metopic ridge, Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal... |
ORPHA:364577 |
| Trisomy 18 |
|
Microretrognathia, Choanal atresia, Camptodactyly of finger, Congenital diaphragmatic hernia, Abn... |
ORPHA:3380 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Fail... |
OMIM:614602 |
| Dend Syndrome |
|
Prominent metopic ridge, Anteverted nares, Elevated hemoglobin A1c, Clinodactyly of the 4th finge... |
ORPHA:79134 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
| Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Skeletal muscle atrophy, Wide nose, Anteverted nares, Angina pectoris, Abno... |
ORPHA:109 |
| Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Weight loss, Hyperhidrosis, Bone marrow hypocellularity |
ORPHA:391 |
| Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hypertrophy of the urinary bladder, High palate, Recurrent aspiration pneumonia, Microretrognathi... |
ORPHA:280633 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Aortic regurgitation, Sandal gap, Tapered finger, Micrognathia, Erythroid hypoplas... |
OMIM:620072 |
| Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Hypospadias, Prominent nasal bridge, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:613803 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist... |
OMIM:302950 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Renal cyst, Hypoplasia of t... |
OMIM:137920 |
| Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lower limb muscle... |
ORPHA:449427 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Proteinuria, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, Hematu... |
OMIM:616901 |
| Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Decreased level of plasminogen, Recurrent upper respiratory tract infections, Nep... |
OMIM:217090 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Overhanging nasal tip, Hypospadias, Choanal at... |
ORPHA:163979 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Failure to thrive, Dysgammaglobulinemia, Impaired Ig class switch recombination, In... |
OMIM:308230 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... |
OMIM:604292 |
| Immunodeficiency 58 |
|
Psoriasiform lesion, Scaling skin |
OMIM:618131 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
| Basan Syndrome |
|
Epidermal acanthosis |
OMIM:129200 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... |
OMIM:602450 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contractures, Micro... |
ORPHA:536471 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Narrow greater sciatic notch,... |
OMIM:312870 |
| Monosomy 13Q34 |
|
Insulin resistance, Hepatic steatosis, Hypercalcemia, Obesity |
ORPHA:96168 |
| Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Pulmonary embolism, Clubbing, Iron deficiency anemia, Club... |
OMIM:226300 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose, Arachnodactyly, Delayed cranial suture closure, Micrognathia |
ORPHA:1129 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia, Triphalangeal thumb |
OMIM:615550 |
| Arterial Tortuosity Syndrome |
|
Myocardial infarction, Coxa vara, Clinodactyly of the 5th finger, Arachnodactyly, Hiatus hernia, ... |
ORPHA:3342 |
| Frontorhiny |
|
Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi... |
ORPHA:391474 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lo... |
OMIM:616462 |
| Floating-Harbor Syndrome |
|
Enlarged joints, Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Humeral pseu... |
ORPHA:2044 |
| Weill-Marchesani Syndrome 1 |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow palate, Mitral regurgitation, Pulmonic ... |
OMIM:277600 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Villous atrophy, Malabsorption, Thrombocytopenia, Hypercalciu... |
OMIM:557000 |
| Fanconi Anemia, Complementation Group L |
|
Unilateral renal agenesis, Micrognathia, Absent thumb, Esophageal atresia, Absent radius, Renal h... |
OMIM:614083 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Renal hypoplasia, Metopic synostosis, Vesicoureteral reflux, Short nose, Hydron... |
OMIM:613735 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Elevated circulating glutaric ac... |
ORPHA:66634 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Skin ulcer, Scaling skin, Atrial septal defect, Dry skin |
ORPHA:2526 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive |
ORPHA:436271 |
| Jacobsen Syndrome |
|
Long hallux, Broad columella, Abnormality of the anus, Broad hallux phalanx, Multicystic kidney d... |
ORPHA:2308 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Depressed nasal bridge, Hypoplasia of the maxilla, Congestive heart failure, Sh... |
OMIM:608328 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Tapered finger, Flexion contracture, Hip dysplasia, Finger joint hypermobili... |
ORPHA:544503 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares, Long hallux, Tapered finger |
OMIM:619854 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Hypoplasia... |
ORPHA:861 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Recurrent urinary tract infections, Pyloric stenosis, Wide... |
ORPHA:90349 |
| Hardikar Syndrome |
|
Cholangitis, Vesicoureteral reflux, Bladder exstrophy, Cleft soft palate, Portal hypertension, Py... |
OMIM:301068 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Metaphyseal chondrodysplasi... |
ORPHA:811 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Robinow Syndrome |
|
Micrognathia, Webbed penis, Micropenis, Fused thoracic vertebrae, Syndactyly, Multicystic kidney ... |
ORPHA:97360 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Persistence of primary teeth, M... |
ORPHA:2785 |
| Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Anteverted nares, Depressed nasal bridge... |
ORPHA:50945 |
| Thrombocytopenia 5 |
|
Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
| Hand-Foot-Genital Syndrome |
|
Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypothyroidism, Jaundice, Aplasia/Hypoplasia of... |
ORPHA:93111 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Aplastic anemia, Long nose, Patellar hypoplasia, High palate, Neutropenia, Sho... |
ORPHA:221016 |
| Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Neoplasm of the thymus, Spl... |
ORPHA:744 |
| Fetal Alcohol Syndrome |
|
Anteverted nares, Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Short nose |
ORPHA:1915 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating acylcarnitine concentration, Hy... |
ORPHA:159 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Congenital hip dislocation, Pyloric stenosis, Wide anterior font... |
ORPHA:457279 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Micropenis, Humeroradial synostosi... |
OMIM:134780 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short fourth metatarsal, Short metacarpal, Depressed nasal bridge, Overlapping toe, Craniosynosto... |
OMIM:616723 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Depressed nasal bridge, Urolithiasis, Gout, Hyperuricosuria, Hi... |
OMIM:300661 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Cleft soft palate, Intestinal malrotation, Leukocytosis, Flexion contracture, Renal hypoplasia, G... |
OMIM:619321 |
| Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... |
OMIM:617388 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Wide nose, Prominent nasal bridge, Hypoplasia of the maxilla, Carious ... |
ORPHA:50814 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Renal dysplasia, Short femur, Depressed nasal bridge, Micrognathia, Cl... |
OMIM:300990 |
| Nephronophthisis 1 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
| Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Aganglionic megacolon, Underdeveloped nasal alae, Wide nasal bridge, Cleft... |
ORPHA:894 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Monosomy 9P |
|
Hypospadias, Anteverted nares, Depressed nasal bridge, Micrognathia, Choanal atresia, Proximal pl... |
ORPHA:261112 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
| Distal Deletion 9P |
|
Hypospadias, High, narrow palate, Wide nasal bridge, Cleft palate, Short nose, Brachydactyly |
ORPHA:1642 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislocation, High... |
ORPHA:536467 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Hypoplasia of penis, Anteverted nares, Choanal atresia, Midnasal stenosis, R... |
ORPHA:280200 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Abnormal nasopharynx morphology, Absence of Stensen duct, Hypoplasia of the maxilla, Xerostomia, ... |
OMIM:129900 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Short nose, Convex nasal ridge |
OMIM:200130 |
| Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion |
ORPHA:163525 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose |
OMIM:122880 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Brachydactyly, Anteverted nares, Overlapping toe, Abnormality of the kidney,... |
ORPHA:177907 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micrognathia, Epispadias, High, narrow palate, Coxa vara, Short palm, Clinod... |
ORPHA:3107 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism |
OMIM:618107 |
| Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Anteverted nares, Eczema, Hypoplasia of the maxilla, Xerostomia, Nephrotic syndrome, K... |
ORPHA:238468 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Protruding tongue, Recurrent pneumonia, Wide nasal bridge, Short nose, Hy... |
OMIM:619179 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Prominent nasal bridge, Tapered finger, Horseshoe kidney, High palate, Clinodactyly ... |
ORPHA:65286 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Depressed nasal bridge, Choanal atresia, Celiac disease, Bulbous nose, Pulmonic stenosis, Short nose |
ORPHA:284169 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
| Chops Syndrome |
|
Anteverted nares, Splenomegaly, High, narrow palate, Horseshoe kidney, Aspiration pneumonia, Vesi... |
OMIM:616368 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... |
ORPHA:228302 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia... |
ORPHA:470 |
| Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
| Juvenile Polyposis Of Infancy |
|
Refractory anemia, Gastrointestinal hemorrhage, Depressed nasal bridge, High, narrow palate, Rect... |
ORPHA:79076 |
| 5Q14.3 Microdeletion Syndrome |
|
Short nose, Toe syndactyly, Anteverted nares |
ORPHA:228384 |
| Tyrosinemia, Type I |
|
Acute hepatic failure, Hypertyrosinemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemi... |
OMIM:276700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| 19P13.13 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Sandal gap, Long fingers, Clinodactyly, Macroglossia, H... |
ORPHA:357001 |
| Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Congestive heart failure, Myocarditis, Rhabdomyo... |
ORPHA:533 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Micropenis, Premature ovarian insufficiency, Hypospadias, Endometriosis |
ORPHA:363444 |
| Acquired Methemoglobinemia |
|
Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia |
ORPHA:464453 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Psoriasiform lesion |
OMIM:614700 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
| Frontofacionasal Dysplasia |
|
Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Cleft palate, Di... |
ORPHA:1791 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micrognathia, High, narrow palate, Depressed nasal ridge, Aplasia/Hypoplasia o... |
ORPHA:2753 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Ante... |
OMIM:303600 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Long nose, Right bundle branch block, Slender long bone, High palate, Mal... |
OMIM:618590 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Small for gestational age, Portal... |
OMIM:613658 |
| Cardiofaciocutaneous Syndrome |
|
Anteverted nares, Depressed nasal bridge, Abnormal morphology of ulna, Submucous cleft hard palat... |
ORPHA:1340 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Macroglossia, R... |
OMIM:613457 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Reduced epidermal extracellular matrix protein 1 protein expression |
OMIM:247100 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Renal insufficiency, Hypoplasia of penis, Anteverted nares, Protruding tong... |
ORPHA:96147 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Malar flattening, Sh... |
OMIM:613038 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Amelia involving the lower limbs, Penoscrotal hypospadias, Ureteral stenos... |
ORPHA:1299 |
| Orthostatic Hypotension 2 |
|
Anemia, Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Epidermal acanthosis |
OMIM:613943 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Micrognathia, Flexion contracture, Facial telangiectasia, Short nose |
OMIM:615851 |
| Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Elevated circulating aspartate aminotransferase concentration, Intrah... |
OMIM:227810 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,... |
OMIM:602088 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... |
ORPHA:158061 |
| Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Hypoplastic iliac wing, Broad ribs, Vertebral f... |
OMIM:139210 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Micropenis, Bicornuate uterus, Adrenal hypoplasia |
OMIM:264480 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Knee flexion contracture, Hip contracture, Hypoplasia of the nasal bone, Epiphyseal stippling |
OMIM:118650 |
| White-Kernohan Syndrome |
|
Hydroureter, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Horseshoe kidne... |
OMIM:619426 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Narrow nasal base, Wide nose, Cleft ala nasi, Pelvic girdle muscle atrophy... |
ORPHA:3044 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Aganglionic megacolon, Tapered finger, Intraventricular... |
OMIM:613603 |
| Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
| Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Short nose, Anteverted nares, Wide nasal bridge |
OMIM:618437 |
| Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Parathyroid ... |
OMIM:188400 |
| Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Hypospadias, Anteverted nares, Prominent nasal bridge, Slender finger, Sma... |
ORPHA:1449 |
| Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Epidermal ... |
OMIM:601214 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,... |
OMIM:618430 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
| Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
| Al-Raqad Syndrome |
|
Short nose, Sandal gap, Brachydactyly |
OMIM:616459 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Protruding tongue |
DECIPHER:52 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Insulin-resis... |
ORPHA:2959 |
| Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... |
ORPHA:93598 |
| Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Flexion contracture, Inflammation of the large intestine, Colitis, Conjunctiv... |
ORPHA:2908 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Dry skin, Scaling skin, Facial erythema |
ORPHA:1010 |
| Fetal Hydantoin Syndrome |
|
Depressed nasal ridge, Cleft palate, Triphalangeal thumb, Short nose, Short distal phalanx of finger |
ORPHA:1912 |
| Cadds |
|
Short nose, Cholangitis, Increased circulating very long-chain fatty acid concentration, Microgna... |
ORPHA:369942 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Micrognathi... |
ORPHA:90154 |
| Kid Syndrome |
|
Epidermal acanthosis, Scaling skin |
ORPHA:477 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Hypoplasia of the maxilla, Femora... |
OMIM:231070 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Congenital Horner syndrome, Ventricular septal defect, Mitral atresia, Cryptorchidism, Muscular v... |
OMIM:619503 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Pallor, Cardiomegaly |
ORPHA:99931 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Short nose, Genu valgum |
ORPHA:2983 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Short nose, Micrognathia |
OMIM:256600 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, High palate, Microretrognathia, Tricuspid regurgitation, Arachnodactyly, Hiatu... |
OMIM:601776 |
| Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Chronic kidney disease, Hypertension, Hip dysplasia, Gastric ulcer, Short ... |
OMIM:208060 |
| Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased circulating total IgM, Type II diab... |
OMIM:210900 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Brachydactyly, Anteverted nares, Depressed nasal bridge, Recurrent urinary trac... |
OMIM:617157 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Long nose, Partial duplication of the distal phalanx of the 3rd finger... |
OMIM:101400 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cleft soft palate, Anteverted nares, Micrognathia, Wide nasal bridge, Submucous clef... |
ORPHA:2282 |
| Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Reduced natural ... |
OMIM:603553 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Limb hypertonia, HbH hemoglobin, Underdeveloped nasal ... |
ORPHA:423479 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Cleft palate, Abnormal circulating chol... |
OMIM:602398 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Splenomegaly, Flexion contracture, Anemia, ... |
OMIM:617591 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Glycosuria, In... |
OMIM:220110 |
| Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmalonic aciduria,... |
OMIM:275350 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased serum iron, Increased mean corpu... |
ORPHA:98870 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, 11 pairs of ribs, Severe B lymphocytopenia, Depressed nasal bridge, Delayed cra... |
OMIM:620005 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Pyelonephritis, Nephritis, Renal dysplasia |
OMIM:314300 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis |
OMIM:616069 |
| Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Micrognathia, Wide anterior fontanel, Clinodactyly, Cleft palate, Anterior... |
ORPHA:3338 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bridge, Limb hypertonia, High... |
OMIM:615803 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Hypoplasia of the maxilla, Coronal craniosynostosis, Abnormal metacarpal morphology, Aplasia/Hypo... |
ORPHA:2095 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Rocker bottom foot, Micrognathia, Long fingers, Postaxia... |
ORPHA:521426 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Hypoplastic nipples, Ab... |
ORPHA:3138 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Hyperhidrosis,... |
ORPHA:17 |
| Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... |
OMIM:619991 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Wide nose, Anteverted nares, Micrognathia, Hypo... |
OMIM:209885 |
| Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Esophag... |
ORPHA:84081 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomega... |
ORPHA:171 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione... |
OMIM:252150 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Advanced eruption of teeth, Short nose, Depressed nasal bridge, Broad columella |
OMIM:617865 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... |
OMIM:613011 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Hypoplasia of the maxilla, Recurrent upper respiratory tract infections, Depressed nas... |
ORPHA:2399 |
| Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl... |
ORPHA:449395 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Micrognathia, Bifid uvula, Depressed nasal bridge, Anteverted nares,... |
OMIM:613458 |
| C Syndrome |
|
Joint dislocation, Multicystic kidney dysplasia, Toe syndactyly, Anteverted nares, Depressed nasa... |
ORPHA:1308 |
| Orofaciodigital Syndrome Iii |
|
Bulbous nose, Supernumerary tooth, Postaxial hand polydactyly, Tongue nodules, Postaxial foot pol... |
OMIM:258850 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Depressed nasal bridge, Craniosynostosis, Micrognathia, Bulbous nose, Clino... |
OMIM:614114 |
| Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Craniosynostosis, Postaxial hand polydactyly, Hypoplasia of the small intestin... |
OMIM:200995 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Increased va... |
OMIM:611881 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Enuresis nocturna, Short 4th toe, Prominent fingertip pads, Clinodactyly of ... |
OMIM:615873 |
| Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Fasting... |
OMIM:232200 |
| Tetrasomy 18P |
|
Short nose, Syncope |
ORPHA:3307 |
| Riddle Syndrome |
|
Erythema, Scaling skin |
ORPHA:420741 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating C-reactive protein concentratio... |
ORPHA:829 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Th... |
ORPHA:139402 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Increased u... |
OMIM:252160 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers, Contractures of the large ... |
OMIM:617527 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, U... |
ORPHA:79408 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Depressed nasal bridge, Anteverted nares, Sandal gap, Underdeveloped nasal ala... |
OMIM:616835 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
| Cranioectodermal Dysplasia 1 |
|
High, narrow palate, Tubulointerstitial nephritis, High palate, Hypocalcemia, Anteverted nares, S... |
OMIM:218330 |
| Angelman Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Macroglossia, Protruding tongue |
OMIM:105830 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Dental malocclusion, Diaphyseal sclerosis, Hepatosplenomegaly, Dist... |
OMIM:259730 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Anteverted nares, Hypoplasia of teeth, Keratoconjunctivitis sicca, Short nose, Retrognathia |
OMIM:234050 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
| Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Anteverted nares, Intestinal malrotation, Depressed nasal bridge, Mic... |
OMIM:244450 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Hepatosplenomegaly, Abno... |
ORPHA:1655 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Slender long bone |
OMIM:613804 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri... |
OMIM:268400 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Erythema, Epidermal acanthosis |
OMIM:617525 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Hypoplasia of the maxilla, Clinodactyly, High palate, Chronic otitis media... |
OMIM:614188 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Genu recurvatum, Anteverted nares, Slender long bone, Cubitus valgus, Short nose |
ORPHA:1185 |
| Craniofaciofrontodigital Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morp... |
ORPHA:363705 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Syndactyly, Depressed nasal bridge, Anteverted nares, Intraventricular hemorrhage, Wide nasal bri... |
OMIM:616430 |
| Gitelman Syndrome |
|
Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ... |
ORPHA:358 |
| Corticosteroid-Binding Globulin Deficiency |
|
Decreased urinary potassium, Hypertension, Hypokalemia, Hypotension, Anemia |
OMIM:611489 |
| Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
| Warburg Micro Syndrome 2 |
|
Overlapping toe, Prominent nasal bridge, Clinodactyly of the 5th toe, Flexion contracture, Microp... |
OMIM:614225 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele... |
ORPHA:100085 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
| Acro-Renal-Mandibular Syndrome |
|
Bicornuate uterus, Uterus didelphys |
ORPHA:958 |
| Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Anteverted nares, Proximal placement of thumb, Clinodactyly of the 5th f... |
OMIM:618619 |
| Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, As... |
ORPHA:83469 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, G... |
OMIM:300106 |
| Restrictive Dermopathy |
|
Hypospadias, Dextrocardia, Transposition of the great arteries, Scaling skin, Atrial septal defec... |
ORPHA:1662 |
| Aymé-Gripp Syndrome |
|
Prominent metopic ridge, Pericarditis, Depressed nasal bridge, Proteinuria, Rocker bottom foot, T... |
ORPHA:1272 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Elevated circulating creatine kin... |
OMIM:615356 |
| Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis |
OMIM:610227 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Lymphadenitis, Hepatosplenomegaly... |
ORPHA:331206 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Wormian bones, Hypospadias, Anteverted nares, Micrognathia, Congestive heart failure, Small hand,... |
ORPHA:444077 |
| Fryns Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Bicornuate uterus, Hypospadias |
ORPHA:2059 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
ORPHA:391428 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
| Pseudoxanthoma Elasticum |
|
Optic disc drusen, Mitral valve prolapse, Cutis laxa, Civatte bodies, Restrictive cardiomyopathy,... |
OMIM:264800 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Malabsorption, Flexion contracture, Telangiectasia, Keratoconjunctivitis ... |
OMIM:601675 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Facial hypotonia, Hyperkalemia, Renal hypopl... |
OMIM:617595 |
| Nephronophthisis 18 |
|
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... |
OMIM:615862 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuria, Aminoacidur... |
OMIM:239200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Skeletal muscle atrophy, Hypospadias, Depressed nasal bridge, Overlapping toe, Micrognathia, Broa... |
OMIM:309590 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration |
ORPHA:85414 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating aspartate ami... |
OMIM:619573 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the muscul... |
ORPHA:1101 |
| Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion c... |
OMIM:268300 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Carious teeth, Thrombocytopenia, Leukopenia, Interstitial pneumonitis, Increased... |
OMIM:127550 |
| Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Failure to thrive, Hypoglycemia, Hepatomegaly |
OMIM:231670 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Micropenis, Hypospadias, Cleft soft palate, Tapered finger, Supernumerary tooth, Aortic valve ste... |
ORPHA:268261 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Hypoplasia of the abdominal wall muscul... |
OMIM:612289 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, High palate, Short nose |
OMIM:300749 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Anteverted nares, Hypospadias, Depressed nasal bridge, Broad nasal tip... |
ORPHA:1465 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Clinodactyly, ... |
OMIM:613406 |
| Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus |
OMIM:601186 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Anteverted nares, Prominent nasal bridge, Down-sloping shoulders, Micrognathia... |
ORPHA:1974 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... |
OMIM:618935 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97283 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Erythema, Acantholysis |
ORPHA:2841 |
| Omodysplasia 1 |
|
Short humerus, Depressed nasal bridge, Increased fibular diameter, Micrognathia, Limited knee fle... |
OMIM:258315 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Rocker bottom foot, Tapered finger, Cleft palate, Finger clinodactyly, Ca... |
OMIM:601353 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Anteverted nares, Epispadias, Abno... |
ORPHA:3339 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Wiedemann-Steiner Syndrome |
|
Aplasia/Hypoplasia of the ribs, Tapered finger, Abnormality of the elbow, Wide nasal bridge, High... |
ORPHA:319182 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, ... |
ORPHA:199 |
| Peho Syndrome |
|
Anteverted nares, Tapered finger, Flexion contracture, Malar flattening, Short nose, Arthrogrypos... |
ORPHA:2836 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Epistaxis, Cerebral hemorrhage, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal ... |
OMIM:277450 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... |
ORPHA:79404 |
| Cerebrooculonasal Syndrome |
|
Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial polydactyly, Craniosynostosis, Pos... |
OMIM:605627 |
| Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... |
ORPHA:79330 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Long nose, High palate, Clinodactyly of the 5th finger,... |
OMIM:619522 |
| Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Prominent metopic ridge, Anteverted nares, Urina... |
ORPHA:2729 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
| Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97282 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hypothyroidism, Hepatit... |
OMIM:615846 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97278 |
| Hereditary Fructose Intolerance |
|
Hepatomegaly, Reactive hypoglycemia, Episodic hyperhidrosis, Jaundice, Hypermagnesemia, Hyperuric... |
ORPHA:469 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Cleft palate, Shortenin... |
OMIM:614207 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Rib fusion, Cleft palate, Bifid ribs, Short nose |
ORPHA:1394 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus |
ORPHA:1521 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, M... |
ORPHA:904 |
| Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ... |
ORPHA:2036 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Depressed nasal ridge, Micropenis, Bifid uvula, Microretrognathia, Mesoaxial poly... |
ORPHA:672 |
| Geleophysic Dysplasia 1 |
|
Short palm, Anteverted nares, Camptodactyly of finger, Mitral stenosis, Coxa valga, Tricuspid ste... |
OMIM:231050 |
| Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
| Limb-Mammary Syndrome |
|
Absent nipple, Primary amenorrhea, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic nippl... |
ORPHA:69085 |
| Ayme-Gripp Syndrome |
|
Mandibular prognathia, Pericarditis, Depressed nasal bridge, Delayed cranial suture closure, Tape... |
OMIM:601088 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... |
OMIM:209900 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Acromesomelic Dysplasia 1 |
|
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... |
OMIM:602875 |
| Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Leiomyosarcoma, Ves... |
ORPHA:116 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Midline defect of the nose, Bifid nose, Malar flattening, Short nose, ... |
OMIM:229400 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem... |
ORPHA:91500 |
| Nephronophthisis 11 |
|
Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
| Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Clinodactyly of th... |
OMIM:194050 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Long toe, Short metacarpal, Hallux valgus, Anteverted nares, Brachydactyly, ... |
OMIM:601358 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Anteverted nares, Sandal gap, Craniosynostosis, Phimosis, Broad nasal tip, ... |
ORPHA:363611 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly, Acantholysis |
ORPHA:158687 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypoplasia, Clitoral hypertrophy |
OMIM:300707 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Renal tubular acidosis, Orot... |
OMIM:616457 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Short nose, Fetal pyelectasis, Adducted thumb |
ORPHA:50810 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Ileal atresia, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pul... |
OMIM:619351 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Microvesic... |
OMIM:203700 |
| Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Agonadism, Abnormality of the uterus, Ambiguous genitalia, Abnormal... |
ORPHA:991 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Proximal placement of thumb, Micrognathia, Hypoplasia of the maxilla, Limit... |
OMIM:261540 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis |
OMIM:613102 |
| Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Posterior uveitis, Nephropathy, Abnormal salivary gland morp... |
ORPHA:90340 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Arachnodactyly, Unilateral renal agenesis, Absent thumb, Hypoplasia of th... |
ORPHA:500150 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Prominent nasal bridge, Ectopic kidney, Short toe, Wide nasal bridge, Clinodac... |
ORPHA:1519 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Perianal erythema, Hypospadias, Cryptorchidism, Scaling skin, Atrial septa... |
OMIM:308205 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, Congenital d... |
OMIM:301044 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
| 16P13.11 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cleft palate, Metatarsus valgu... |
ORPHA:261236 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... |
ORPHA:227990 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia |
OMIM:618398 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Nephroblastoma, Rhabdomyosarcoma, Abnormal rib morphology, Polydactyly... |
ORPHA:77301 |
| Olmsted Syndrome, X-Linked |
|
Epidermal acanthosis |
OMIM:300918 |
| Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Skeletal muscle atrophy, Short nose, Anteverted nares |
OMIM:103050 |
| Sarcoidosis |
|
Abnormal nasal mucosa morphology, Heart block, Increased T cell count, Ventricular tachycardia, U... |
ORPHA:797 |
| Restrictive Dermopathy 1 |
|
Atrial septal defect, Hypospadias, Scaling skin |
OMIM:275210 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of f... |
ORPHA:920 |
| Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... |
OMIM:603860 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Dry skin, Epidermal acanthosis |
OMIM:618527 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Bowing of the long bones, Craniosynostosis, Splenomegaly, Abnormal rib... |
ORPHA:667 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Myocardial infarction, Micrognathia, Prominent nose, Ri... |
OMIM:150230 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Mandibular prognathia, Prominent nasal tip, Sandal gap, Eczema, Broad nasal tip, Long fingers, Re... |
OMIM:620330 |
| Acrorenal-Mandibular Syndrome |
|
Absent nipple, Uterus didelphys, Bicornuate uterus, Polycystic kidney dysplasia, Unicornuate uterus |
OMIM:200980 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Epidermal acanthosis, External genital hypoplasia |
OMIM:242100 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Hypoka... |
OMIM:174900 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis |
OMIM:148700 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to auto... |
OMIM:105210 |
| Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia |
OMIM:207800 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Delayed cranial suture closure, Persistence o... |
ORPHA:93325 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosyno... |
OMIM:609942 |
| Aspartylglucosaminuria |
|
Mandibular prognathia, Aspartylglucosaminuria, Abnormal morphology of ulna, Malabsorption, Cariou... |
ORPHA:93 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... |
ORPHA:227982 |
| Meacham Syndrome |
|
Septate vagina, Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Enlarged kidney |
OMIM:608978 |
| Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Anteverted nares, Depressed nasal bridge, Broad hallux, Micrognathia, Underd... |
OMIM:618332 |
| Distal Deletion 19P |
|
Hypoplasia of the maxilla, Long toe, Arachnodactyly, Cleft palate |
ORPHA:96129 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia |
ORPHA:140952 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Anoperineal fistula, Scaling skin |
ORPHA:158668 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Depressed nasal bridge, Eczema, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, T... |
OMIM:305100 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Cryptorchidism, Multiple renal cysts, Abnormality of the uterus, Abnormal fa... |
ORPHA:99776 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circulating growth hormone concen... |
ORPHA:97261 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Nodula... |
ORPHA:404454 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis |
OMIM:608649 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
| Fanconi Anemia |
|
Hypospadias, Abnormal preputium morphology, Cryptorchidism, Azoospermia, Decreased fertility in m... |
ORPHA:84 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
| Van Esch-O'Driscoll Syndrome |
|
Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Short middle phalanx of fi... |
OMIM:301030 |
| Currarino Syndrome |
|
Bicornuate uterus, Rectovaginal fistula, Septate vagina |
OMIM:176450 |
| Acrokeratosis Verruciformis Of Hopf |
|
Epidermal acanthosis, Acantholysis |
ORPHA:79151 |
| Huriez Syndrome |
|
Epidermal acanthosis |
OMIM:181600 |
| Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus |
ORPHA:3440 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis |
ORPHA:38 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs... |
OMIM:157170 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Genu recurvatum, Unilateral renal agenesis, Congestive heart failure, Hip d... |
ORPHA:90348 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalcemia, Elevated circulating gr... |
ORPHA:97280 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Leopard Syndrome 1 |
|
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... |
OMIM:151100 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, High palate, Otitis media, Micropenis, Hypospadias, Anteverted nares, Wide n... |
OMIM:619475 |
| Geleophysic Dysplasia 2 |
|
Mitral stenosis, Tricuspid stenosis, Cone-shaped epiphysis, Short foot, Mitral regurgitation, Aor... |
OMIM:614185 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
| Cole Disease |
|
Epidermal acanthosis |
OMIM:615522 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Epidermal acanthosis |
OMIM:242300 |
| Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Cleft... |
ORPHA:33001 |
| Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
| Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Renal cyst, Bicornuate ute... |
OMIM:229850 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Intestinal fistula, Hypospadias, Anteverted n... |
ORPHA:709 |
| Hartsfield Syndrome |
|
Syndactyly, Wide nose, Hypospadias, Craniosynostosis, Cleft palate, Ectrodactyly, Micropenis, Hyp... |
OMIM:615465 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis |
OMIM:616029 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Depressed nasal bridge, Anteverted nares, Micrognathia, Metatarsus adductus, Osteopathia striata,... |
ORPHA:513456 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Micropenis, Uterus didelphys, Septate vagina |
OMIM:617925 |
| Faciocardiomelic Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Slender long bone, P... |
OMIM:612731 |
| Jaberi-Elahi Syndrome |
|
Short nose, Depressed nasal bridge |
OMIM:617988 |
| Psoriasis 14, Pustular |
|
Erythema, Epidermal acanthosis |
OMIM:614204 |
| Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Coxa valga, Hypoplasia of the maxilla, Carious teeth, Conges... |
OMIM:182250 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis |
OMIM:615023 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Cutis laxa, Mitral valve prolapse, Atrial septal defect, Lef... |
OMIM:245600 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Depressed nasal bridge, Rectal fistula, Fetal pyelectasis, B... |
ORPHA:49 |
| Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Anteverted nares, Depressed nasal bridge, Elevated circ... |
OMIM:259050 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
| Ulbright-Hodes Syndrome |
|
Abnormal penis morphology, Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia,... |
ORPHA:3404 |
| Fraser Syndrome |
|
Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Bi... |
ORPHA:2052 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Abnormal epidermal morphology, Epidermal acanthosis, Prostate cancer |
ORPHA:79501 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R... |
OMIM:601803 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Dry skin, Petechiae |
OMIM:230000 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Increased circulating gonadotropin l... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Increased circulating gonadotropin l... |
ORPHA:99228 |
| Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Increased circulating gonadotropin l... |
ORPHA:99226 |
| Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Increased circulating gonadotropin l... |
ORPHA:881 |
| Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Precocious puberty, Cryp... |
OMIM:270400 |
| Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Hyperuricemia, Hepatocellular c... |
OMIM:232240 |
| Atypical Werner Syndrome |
|
Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, ... |
ORPHA:79474 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Large for gestational age, Microvesicular hepatic steatosis, Cirrhosis, Elevated he... |
OMIM:300868 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Gluco... |
OMIM:619127 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Epidermal acanthosis |
OMIM:612852 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Breas... |
OMIM:181450 |
| Fraser Syndrome 1 |
|
Hypospadias, Cryptorchidism, Bicornuate uterus, Abnormal thymus morphology, Micropenis, Vaginal a... |
OMIM:219000 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus |
ORPHA:3320 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Cutis laxa, A... |
ORPHA:95430 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis |
OMIM:615225 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Genu valgum, Tubulointerstitial nephritis, Nephrotic syndrom... |
ORPHA:488627 |
| Norrie Disease |
|
Diabetes mellitus, Cryptorchidism, Uterine rupture, Erectile dysfunction, Delayed puberty |
ORPHA:649 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Wide nasal bridge, Anal atresia |
OMIM:180500 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Hypospadias, Bifid uterus, Cr... |
OMIM:107480 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform lesion |
ORPHA:85436 |
| Olmsted Syndrome 2 |
|
Epidermal acanthosis |
OMIM:619208 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus |
OMIM:236680 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus |
OMIM:619879 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Small for gestational age, Microvesicular hepatic steatosis, Hyperammonemia, Hyperg... |
OMIM:220111 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Block vertebrae, Hypoplasia of facial musculature, Renal agenesis, ... |
OMIM:164210 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Prominent nasal tip, Sho... |
ORPHA:522077 |
| Peroxisome Biogenesis Disorder 4B |
|
Short nose, Ureterocele |
OMIM:614863 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Choanal atresia, Unilateral renal agenesis, Proboscis, Abnorma... |
ORPHA:141099 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis |
OMIM:619934 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Hypothyroidism, Obesity, Abnormality of the liver, Annular pancreas, F... |
ORPHA:1606 |
| Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Biliary cirrhosi... |
OMIM:613471 |
| 1P21.3 Microdeletion Syndrome |
|
Broad nasal tip, Short nose, Micrognathia |
ORPHA:293948 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
| Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Abnormal aortic valve morphology, Abnorm... |
ORPHA:581 |
| Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Erythema, Dry skin, Epidermal acanthosis |
OMIM:257980 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Uterus didelphys, Renal cyst, Ambigu... |
ORPHA:93271 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Abnormal cardiac septum morphology, Erythema, Epidermal acanthosis, Single ventricle |
OMIM:308050 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Xerostomia, Thyroiditis, Enlargement of parotid gland, Tubulointerstitial nephritis, Ab... |
ORPHA:79078 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Anhidrosis, Splenomegaly, Hypohidrosis, Failure to thrive |
OMIM:612132 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Cryptorchidism, Splenomegaly, Ambiguous genitali... |
OMIM:249000 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Polyuria, Narrow nasal ridge, Hypertension, Pulmon... |
OMIM:606721 |
| Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Failure to thrive, Pancreatitis, ... |
OMIM:219700 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Clubbing, Telangiectasia, Hamartomatous polyposis... |
OMIM:175050 |
| Craniorachischisis |
|
Congenital diaphragmatic hernia, Bifid sternum, Anal atresia |
ORPHA:63260 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia |
ORPHA:2363 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Bicornuate uterus, Hypospadias, Right ventricular hypertrophy |
OMIM:265380 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
| Wiedemann-Rautenstrauch Syndrome |
|
Hyperthyroidism, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Sle... |
ORPHA:3455 |
| Yunis-Varon Syndrome |
|
Redundant neck skin, Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypopl... |
ORPHA:3472 |
| Aicardi-Goutières Syndrome |
|
Cardiomegaly, Hepatosplenomegaly, Micropenis, Hypertrophic cardiomyopathy, Dry skin |
ORPHA:51 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Cryptorchidism, Splenomegaly, Hypoplasia of the... |
ORPHA:567 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Agenesis of molar, Aplasia of the maxilla |
OMIM:313500 |
| Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... |
ORPHA:857 |
| Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Erythema, Epididymitis |
OMIM:256040 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Epidermal acanthosis, Cryptorchidism, Perimembranous ventricular septal defect, Mic... |
ORPHA:83617 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Precocious puberty, Cryptorchidism, Abnormality of the endocrine system, Abnormality of the anter... |
ORPHA:438213 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... |
OMIM:276820 |
| Classical Ehlers-Danlos Syndrome |
|
Uterine prolapse, Cervical insufficiency |
ORPHA:287 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Aplasia of the uterus, Atrial septal defe... |
OMIM:135900 |
| Aneurysm-Osteoarthritis Syndrome |
|
Uterine prolapse, Left ventricular hypertrophy |
ORPHA:284984 |
| Loeys-Dietz Syndrome 3 |
|
Uterine prolapse, Cystocele, Left ventricular hypertrophy |
OMIM:613795 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
