| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Female infertility, Oocyte arrest at metaphase I, Polycystic ovaries, A... |
ORPHA:488191 |
| Familial Hyperprolactinemia |
|
Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size |
ORPHA:393 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea |
ORPHA:1643 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis |
ORPHA:242 |
| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon... |
OMIM:300510 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
| Ovarian Dysgenesis 9 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube... |
OMIM:619665 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea... |
OMIM:617565 |
| Premature Ovarian Failure 18 |
|
Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ... |
OMIM:619203 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... |
OMIM:618078 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Abnormal spermatogenesis, Testicular microlithiasis, Secondary amenorrhea, Decreased circulating ... |
OMIM:228300 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Premature Ovarian Failure 3 |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea |
OMIM:608996 |
| Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Female infertility, Elevated circulating f... |
OMIM:612310 |
| Premature Ovarian Failure 13 |
|
Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen... |
OMIM:617442 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l... |
OMIM:612964 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,... |
OMIM:615363 |
| Functioning Gonadotropic Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... |
ORPHA:91348 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure... |
ORPHA:2795 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... |
ORPHA:2138 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased serum testost... |
OMIM:614841 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Uterus didelphys, Metrorrhagia, Partial vaginal septum, Dyspareunia, Abnormal uterine cervix morp... |
ORPHA:3411 |
| Ovarian Dysgenesis 5 |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary amenorrhea, El... |
OMIM:617690 |
| Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal... |
ORPHA:785 |
| Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Hepatomegaly, Oligomenor... |
ORPHA:79085 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol... |
ORPHA:3085 |
| 46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Abnormal internal genitalia, Decreased serum testosterone concentration... |
OMIM:273250 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Decrease... |
ORPHA:90796 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo... |
OMIM:611548 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries, Insulin-resistant diabetes mell... |
ORPHA:90301 |
| Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Hyperlipidemia, ... |
OMIM:232700 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry... |
OMIM:614840 |
| Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
| Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadoblastoma, Abnormality of female external genitalia, Decreased serum estradiol, Infertility,... |
ORPHA:168563 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly |
ORPHA:294 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Perrault Syndrome 3 |
|
Streak ovary, Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Pri... |
OMIM:614129 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure, Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:619874 |
| Ovarian Dysgenesis 10 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir... |
OMIM:619834 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly |
ORPHA:79084 |
| Peeling Skin Syndrome 5 |
|
Scaling skin, Epidermal acanthosis |
OMIM:617115 |
| Perrault Syndrome 4 |
|
Primary amenorrhea, Decreased serum estradiol, Secondary amenorrhea, Premature ovarian insufficie... |
OMIM:615300 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra... |
ORPHA:314478 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Acute kidney injury, Microangiopathic hemolytic anemia, Hematuria, Decreased... |
ORPHA:54057 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Hepatomegaly, Oligomenor... |
ORPHA:435651 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Polycystic ovaries, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Secondar... |
OMIM:268020 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ov... |
OMIM:604367 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... |
OMIM:614837 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
| Premature Ovarian Failure 8 |
|
Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula... |
OMIM:615723 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Irregular menstruation, Isosexual precocious puberty, Ambiguous genitalia, Precocious puberty, Pr... |
ORPHA:90795 |
| Asherman Syndrome |
|
Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c... |
ORPHA:137686 |
| Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatic failure, Primary adrenal insufficiency, Hepatic steatosis, Increased blood urea nitrogen,... |
OMIM:617872 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries |
OMIM:608709 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect... |
ORPHA:435660 |
| 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, Hypoplasia of the ovary, Elevated circulating luteinizing hormon... |
OMIM:615724 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... |
OMIM:614842 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615395 |
| Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo... |
OMIM:614324 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... |
OMIM:615703 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy... |
OMIM:613673 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Hepatic steatosis, Elevated hepatic transaminase, Mildly elevated creatine kinase |
OMIM:618400 |
| Premature Ovarian Failure 10 |
|
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... |
OMIM:612885 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici... |
OMIM:618841 |
| Keratosis Palmoplantaris Striata Ii |
|
Epidermal acanthosis |
OMIM:612908 |
| Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Palmoplantar scaling skin, Scaling skin, Dry skin, Erythema |
ORPHA:530838 |
| 46,Xy Sex Reversal 7 |
|
Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi... |
OMIM:233420 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Peeling Skin Syndrome 3 |
|
White scaling skin |
OMIM:616265 |
| Hyperprolactinemia |
|
Female infertility, Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea |
OMIM:615555 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Decreased plasma fr... |
OMIM:619048 |
| Hemochromatosis, Type 4 |
|
Cirrhosis, Impaired glucose tolerance, Elevated transferrin saturation, Hepatic steatosis, Diabet... |
OMIM:606069 |
| Diethylstilbestrol Syndrome |
|
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... |
ORPHA:1916 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus |
OMIM:277000 |
| 17Q21.31 Microduplication Syndrome |
|
High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short nose, Sandal gap... |
ORPHA:217340 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
| Aromatase Deficiency |
|
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Female pseud... |
ORPHA:91 |
| Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Myopathy |
ORPHA:33574 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal... |
ORPHA:457059 |
| Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormal testis morphology, Incr... |
ORPHA:1227 |
| Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Decreased circulating ceruloplasmin concentration, Increased circulating copper concen... |
ORPHA:209919 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, High palate, Micrognathia, Generalized limb muscle atrophy, Short nose, Myopathy |
ORPHA:2598 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hyperglycinemia, Ad... |
OMIM:619386 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Rhabdomyolysis, Exercise-induced myoglobinuria, Erythroid hyperplasia, Reticulo... |
OMIM:300653 |
| Leydig Cell Hypoplasia |
|
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... |
ORPHA:755 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Complete Androgen Insensitivity Syndrome |
|
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... |
ORPHA:99429 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Hyper... |
OMIM:612526 |
| Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Overgrowth of external genitalia, Diabetes melli... |
ORPHA:528 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Primary amenorrhea, Secondary amenorrhea, Maternal diabetes, Diabetes mellitus, Polycystic ovarie... |
ORPHA:79083 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... |
ORPHA:754 |
| Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, Abnormal spermatogenesis, Gonadoblastoma, Ambiguou... |
ORPHA:261529 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Scaling skin |
OMIM:146590 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Syndactyly, Anemia ... |
OMIM:615631 |
| Gordon Holmes Syndrome |
|
Secondary amenorrhea, Oligomenorrhea, Absence of pubertal development, Primary amenorrhea, Hypogo... |
OMIM:212840 |
| Gonadoblastoma |
|
Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc... |
ORPHA:206484 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... |
ORPHA:90797 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Hepatic steatosis,... |
OMIM:301045 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Scaling skin, Erythema |
OMIM:617571 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit... |
ORPHA:2975 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
| Vaginal Atresia |
|
Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of... |
ORPHA:65681 |
| Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of... |
ORPHA:232 |
| Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul... |
OMIM:618096 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pulmonary arterial hypertension, Leukopenia, Anemia, Hyperuricemia, Renal salt wasting, Pancytope... |
OMIM:613845 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
| Epidermolytic Hyperkeratosis |
|
Scaling skin, Epidermal acanthosis |
OMIM:113800 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Depressed nasal ridge, Wide nasal bridge, Prominence of the premaxilla, ... |
ORPHA:2412 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Dry skin |
OMIM:105250 |
| Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa... |
ORPHA:64739 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Decr... |
ORPHA:324575 |
| Acral Peeling Skin Syndrome |
|
Scaling skin, Excessive wrinkling of palmar skin, Erythema |
ORPHA:263534 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, M... |
OMIM:612925 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Nephrogenic diabete... |
ORPHA:3130 |
| African Iron Overload |
|
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Elevated transferrin saturatio... |
ORPHA:139507 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Isothenuria, Reticulocytosis, Hepatosplenomegaly, Decreased mean c... |
OMIM:611590 |
| Preeclampsia |
|
Polycystic ovaries, Type I diabetes mellitus |
ORPHA:275555 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Familial Adenomatous Polyposis 4 |
|
Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
| Patent Ductus Venosus |
|
Hepatic steatosis, Hyperammonemia, Hypergalactosemia, Decreased liver function |
OMIM:601466 |
| Dowling-Degos Disease 4 |
|
Epidermal acanthosis |
OMIM:615696 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Infertility, Cryptorchidism, Hypogonadotropic hypo... |
OMIM:146110 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Rhabdomyolysis, Hyperbilirubinemia, Reticulocytosis, Decreased hemoglobin conce... |
ORPHA:713 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612926 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse... |
OMIM:400044 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ... |
OMIM:158330 |
| 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, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly |
OMIM:613978 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hypoketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulating creatine kinase con... |
OMIM:600649 |
| Harderoporphyria |
|
Increased urine harderoporphyrin level, Hemolytic anemia, Red urine, Reticulocytosis, Neonatal hy... |
OMIM:618892 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Secondary amenorrhea, Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Dysmenorrhea, Splenome... |
ORPHA:2348 |
| 46,Xx Gonadal Dysgenesis |
|
Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Secondary amenorrhea, Premat... |
ORPHA:243 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Transient ischemic attack, Microangiopathic hemolytic anemia, Abnormal... |
OMIM:274150 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Increased serum testosterone level, Enlarged polycystic ovaries, Diabetic ketoa... |
ORPHA:2298 |
| Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Palmoplantar scaling skin, Erythema |
ORPHA:281127 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
| Ataxia-Telangiectasia |
|
Abnormal testis morphology, Aplasia/Hypoplasia of the thymus, Type II diabetes mellitus, Diabetes... |
ORPHA:100 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Hypertension, Episodic hemolytic anemi... |
ORPHA:251004 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hemolytic-uremic syndrome, Anemia, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia... |
OMIM:612924 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
| Drug-Induced Lupus Erythematosus |
|
Malar rash, Anemia, Hematuria, Elevated circulating creatine kinase concentration, Pericarditis, ... |
ORPHA:231111 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... |
OMIM:314050 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:609016 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
| Primary Lipodystrophy |
|
Type II diabetes mellitus, Polycystic ovaries, Menometrorrhagia, Splenomegaly |
ORPHA:90970 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Epidermal acanthosis |
OMIM:615028 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Micrognathia, Anteverted nares, Cleft palate, Short nose |
ORPHA:2015 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Testicular Regression Syndrome |
|
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... |
ORPHA:983 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular size, Absence of secon... |
ORPHA:432 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Ballooning hepatoc... |
OMIM:603471 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Pigmented micronodular ad... |
OMIM:610475 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short 5th finger, High palate, Small hand, Clinodactyly, Short nose, Cubitus valgus, Short foot |
OMIM:300577 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea |
OMIM:614858 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm... |
OMIM:612965 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Abnormality of the ovary, Hypoplasia of the uterus, Primary a... |
ORPHA:247768 |
| 3-Methylglutaconic Aciduria Type 1 |
|
Failure to thrive, Hypoglycemia, Hepatomegaly |
ORPHA:67046 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic steatosis, Failure to thrive, Elevated circulating acylcarnitine concentration, Ketotic h... |
ORPHA:26792 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hypert... |
OMIM:235400 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Prominent nose, Wide anterior fontanel, Wide nasal br... |
OMIM:614886 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Hepatomegaly, Fai... |
OMIM:618805 |
| Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, ... |
ORPHA:35858 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Stage 5 chronic kidney disease, Micrognathia, Metatarsal osteolysis, Hypertension... |
OMIM:166300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:615158 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis |
OMIM:615598 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... |
OMIM:229070 |
| Melanocytic Nevus Syndrome, Congenital |
|
Narrow nasal ridge, Prominence of the premaxilla, Short nose, Broad nasal tip, Anteverted nares |
OMIM:137550 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Flexion contracture, Wide nasal bridge, Flared iliac wing, Hypertrophic ca... |
OMIM:617303 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| 3Mc Syndrome 2 |
|
Partial abdominal muscle agenesis, Diastasis recti, High palate, Limited elbow movement, Wide nas... |
OMIM:265050 |
| Glycogen Storage Disease Ixb |
|
Hyperuricemia, Increased hepatic glycogen content, Hypoglycemia, Hepatomegaly, Increased muscle g... |
OMIM:261750 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Hemochromatosis Type 4 |
|
Hepatic steatosis, Cirrhosis, Increased circulating ferritin concentration, Congenital hepatic fi... |
ORPHA:139491 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Recurrent bronchitis, Nephritis |
OMIM:216950 |
| Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Nephritis, Elevated circulatin... |
OMIM:161900 |
| Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Precocious puberty, Increased serum testosterone level, Diabetic ketoacidosis, Lo... |
ORPHA:769 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Micropenis |
OMIM:614962 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Verrucous Hemangioma |
|
Epidermal acanthosis |
ORPHA:464318 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Impaired gluconeoge... |
OMIM:261680 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Hypogonadism, Cutis laxa, Scaling skin, Epidermal acanthosis, Dry skin |
ORPHA:2269 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:616030 |
| 46,Xy Sex Reversal 4 |
|
Distal symphalangism, High palate, Prominent nose, Depressed nasal ridge, Renal dysplasia, Microg... |
OMIM:154230 |
| Psoriasis 2 |
|
Scaling skin, Epidermal acanthosis |
OMIM:602723 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Gonadoblastoma, Abnormality of the uterus, Hypospadias, Cryptorchidism, Streak ovary, Abnormal va... |
OMIM:194072 |
| Heme Oxygenase 1 Deficiency |
|
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Hematuria, Hypertension, Nephritis,... |
OMIM:614034 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Decreased liver function |
OMIM:617093 |
| Idiopathic Localized Lipodystrophy |
|
Scaling skin, Erythema |
ORPHA:90158 |
| Luscan-Lumish Syndrome |
|
Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Carnitine Deficiency, Systemic Primary |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Im... |
OMIM:212140 |
| Distal Monosomy 10P |
|
Polycystic ovaries, Hypoplasia of penis, Cryptorchidism |
ORPHA:1580 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Nephroblastoma, Anemia, Micrognathia, Hypertension, Broad nasal tip, D... |
ORPHA:52022 |
| Mccune-Albright Syndrome |
|
Decreased fertility, Irregular menstruation, Increased circulating prolactin concentration, Preco... |
ORPHA:562 |
| Thyrocerebrorenal Syndrome |
|
Thrombocytopenia, Nephritis, Renal insufficiency, Abnormality of the musculature of the limbs |
ORPHA:3327 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
| Split-Hand/Foot Malformation 3 |
|
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Split hand, Renal hypop... |
OMIM:246560 |
| Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Abnormality of the ureter, Anteverted nares, Deviation of finger, Hydronephrosis |
ORPHA:1450 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... |
OMIM:278000 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease... |
ORPHA:95699 |
| Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Short nose, Hypoplasia... |
ORPHA:1248 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... |
OMIM:616828 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Secondary ame... |
ORPHA:572333 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Delayed cranial suture closure, Mandibular aplasia, Depressed nasal ridge, Microgna... |
ORPHA:1832 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Teebi Hypertelorism Syndrome 2 |
|
High palate, Wide anterior fontanel, Delayed eruption of teeth, Clinodactyly of the 5th finger, S... |
OMIM:619736 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
| Osteolysis Syndrome, Recessive |
|
Knee flexion contracture, Elbow flexion contracture, Metacarpal osteolysis, Hypoplasia of the max... |
OMIM:259610 |
| Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... |
ORPHA:1529 |
| Acrokeratosis Verruciformis |
|
Epidermal acanthosis |
OMIM:101900 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Reticulocytosis, Hyponatremia, Thrombocytopenia, Acute colitis, ... |
ORPHA:90038 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Hepatomegaly, Hypertriglycer... |
OMIM:615238 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Elevated circulating alanine aminotransfer... |
OMIM:605814 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Retrognathia, Short toe, Flexion contracture, High palate, Wide nasal bridge, Micrognathia, HbH h... |
ORPHA:98791 |
| Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Hemolytic anemia, Arthritis, Nephritis, Pericarditis, Lupus nephritis, Th... |
OMIM:152700 |
| Androgen Insensitivity Syndrome |
|
Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh... |
OMIM:300068 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... |
ORPHA:52901 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Retrognathia, Enuresis, Short nose, Broad nasal tip, Malar flattening |
OMIM:613670 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
| Myh9-Related Disease |
|
Renal insufficiency, Spontaneous, recurrent epistaxis, Nephritis, Myocardial infarction, Nephropa... |
ORPHA:182050 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Wide nasal bridge, Capitate-hamate fusion, Short me... |
OMIM:614078 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Large vessel vasculitis, Psoriasiform dermatitis, Acute kidney injury, Normocytic anemia, Deep de... |
ORPHA:49041 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Wide nasal bridge, Hypoplastic frontal sinuses, Pectoral muscle hy... |
OMIM:136760 |
| Gracile Syndrome |
|
Cirrhosis, Decreased transferrin saturation, Hepatic steatosis, Increased circulating ferritin co... |
ORPHA:53693 |
| Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... |
OMIM:251880 |
| Renal Hypodysplasia/Aplasia 1 |
|
Vaginal atresia, Bicornuate uterus, Primary amenorrhea |
OMIM:191830 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Dry skin |
OMIM:612952 |
| Interstitial Nephritis, Karyomegalic |
|
Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:605911 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Rotor Syndrome |
|
Intermittent jaundice, Storage in hepatocytes, Hyperbilirubinemia, Jaundice, Conjugated hyperbili... |
ORPHA:3111 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis, Hypertriglyceridemia, Insulin resistance, Insulin-resistant diabetes mellitus |
OMIM:613877 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Finger syndactyly, Craniosynostosis, Micrognathia, Abnormality of the upper u... |
ORPHA:2145 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Lymphocytosis, Splenomegaly, Hepatomegaly |
OMIM:606445 |
| Pituicytoma |
|
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... |
ORPHA:251623 |
| Non-Distal Trisomy 10Q |
|
Convex nasal ridge, High palate, Micrognathia, Short nose, Depressed nasal bridge, Abnormality of... |
ORPHA:1695 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Renal insufficiency, Abnormal metacarpal morphology... |
ORPHA:1307 |
| Malan Syndrome |
|
Retrognathia, Mandibular prognathia, Coxa valga, Advanced eruption of teeth, Hyperplasia of the p... |
OMIM:614753 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Hepatomegaly |
ORPHA:2398 |
| Lupus Erythematosus Tumidus |
|
Scaling skin |
ORPHA:90283 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Donohue Syndrome |
|
Hyperinsulinemia, Precocious puberty, Long penis, Pancreatic islet-cell hyperplasia, Ovarian cyst... |
OMIM:246200 |
| 46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... |
OMIM:400045 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Multiple renal cysts, Enlarged polycystic ovaries, Cervix cancer |
ORPHA:2869 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu... |
ORPHA:1772 |
| Premature Ovarian Failure 11 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea |
OMIM:616946 |
| Prolidase Deficiency |
|
Anemia, High palate, Crusting erythematous dermatitis, Micrognathia, Eczema, Short nose, Recurren... |
OMIM:170100 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepa... |
ORPHA:42 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:3319 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Hemoglobinuria, Fava bean-induced hemolytic anemia... |
OMIM:300908 |
| Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
| 14Q11.2 Microdeletion Syndrome |
|
High palate, Toe syndactyly, Micrognathia, Short nose, Depressed nasal bridge, Toe clinodactyly |
ORPHA:261120 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Depressed nasal ridge, Renal hypoplasia/aplasia, Micrognathia, Hypoplasia of penis, Hypos... |
ORPHA:1046 |
| Frasier Syndrome |
|
Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Increased circulating gonad... |
ORPHA:347 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Hepatomegaly, Thrombocytopen... |
OMIM:133180 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
High palate, Wide anterior fontanel, Coxa valga, Abnormality of cranial sutures, Abnormality of t... |
ORPHA:163649 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr... |
ORPHA:209902 |
| Spastic Paraplegia 16, X-Linked |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Lower limb muscle weakness, Urinary ... |
OMIM:300266 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepatic failure, Decr... |
ORPHA:228305 |
| 46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... |
OMIM:278850 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Polycystic ovaries, Delayed puberty, Hepatomegaly, Oligomenorrhea, Dysmen... |
ORPHA:370 |
| Diamond-Blackfan Anemia 10 |
|
Anemia, Renal duplication, Reticulocytopenia, Morgagni diaphragmatic hernia, Steroid-responsive a... |
OMIM:613309 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea |
OMIM:264270 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Convex nasal ridge, Micrognathia, Fused cervical vertebrae, Malar prominence, Abnormality of the ... |
ORPHA:2522 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Galactose Mutarotase Deficiency |
|
Hypergalactosemia, Failure to thrive, Cholestasis, Hepatomegaly, Decreased liver function |
ORPHA:570422 |
| Mitochondrial Myopathy, Infantile, Transient |
|
Decreased plasma carnitine, Elevated circulating creatine kinase concentration, Failure to thrive... |
OMIM:500009 |
| Peeling Skin Syndrome 4 |
|
Scaling skin, Epidermal acanthosis |
OMIM:607936 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Unconjugated hyperbilirubinemia, Decreased serum iron, Reticulocytosis, Hemosiderinuria, Thromboc... |
ORPHA:447 |
| Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Arthritis, Reticulocytos... |
OMIM:210250 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Renal hypoplasia/aplasia, Micrognathia, Hip dysplasia... |
ORPHA:1988 |
| Iga Nephropathy, Susceptibility To, 2 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:613944 |
| Congenital Macroglossia |
|
Hypothyroidism, Abnormal hepatic glycogen storage |
ORPHA:2430 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Toe syndactyly, Micrognathia, Craniosynostosis, Renal agenesis, Radioulnar synostosis, Short nose... |
ORPHA:171839 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Periportal fibrosis, Hepatocellular necrosis, Nonketotic hypoglycemia, Decreased plasma carnitine... |
OMIM:201475 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Very long chain fatty acid accumulation, Elevated hepatic transaminase... |
OMIM:264470 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:611490 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
| Cockayne Syndrome Type 1 |
|
Conjunctivitis, Enamel hypoplasia, Foot joint contracture, Mandibular prognathia, Anemia, Delayed... |
ORPHA:90321 |
| Xp22.13P22.2 Duplication Syndrome |
|
Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Right ventricu... |
ORPHA:335 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Ascites, Increa... |
ORPHA:890 |
| Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Insulin resistance |
ORPHA:79087 |
| Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Cirrhosis, Splenomegaly, Elevated transferrin saturation, Elevated hepatic tran... |
OMIM:613313 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614897 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Type I diabetes me... |
OMIM:618549 |
| Peeling Skin Syndrome 6 |
|
Scaling skin, Dry skin |
OMIM:618084 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Elevated circulatin... |
OMIM:614582 |
| Pallister-Hall-Like Syndrome |
|
Short ribs, Toe syndactyly, Micrognathia, Renal dysplasia, Hip dislocation, Short nose, Postaxial... |
OMIM:241800 |
| Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Micrognathia, Clinodactyly of the 5th finger, Hypoplasia of... |
ORPHA:1716 |
| Andersen-Tawil Syndrome |
|
Polymorphic ventricular tachycardia, 2-3 toe syndactyly, Torsade de pointes, Wide nasal bridge, M... |
ORPHA:37553 |
| Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615108 |
| Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Hyperalaninemia, Hyperprolinemia |
OMIM:615918 |
| Hypomelia With Mullerian Duct Anomalies |
|
Longitudinal vaginal septum, Uterus didelphys |
OMIM:146160 |
| Opitz Gbbb Syndrome |
|
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Thyroglossal cyst, Hypospadias, Cryptorchidism, ... |
ORPHA:2745 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Hepatic failure, Increased total iron binding capacity, Hyperbilirubinemia, Jau... |
OMIM:616278 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Polycystic ovaries, Hepatomegaly, Oligomenorrhea, Dysmenorrhea, Splenomegaly |
ORPHA:79240 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Rhinitis, Abnormal EKG, Syncope, Nocturia, Elevated urinary dopamine, Increased blood ure... |
ORPHA:230 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neonatal cholestat... |
ORPHA:79301 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Decreased plasma carnitine, Elevated hepatic transaminase, Hepatic steatosis, Hypoglycemia, Hepat... |
OMIM:201450 |
| Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian cyst, Thyroid... |
OMIM:615109 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Clinodactyly of the 5th finger, Hypoplasia of penis, Short nose, Congenit... |
ORPHA:217385 |
| Stickler Syndrome Type 1 |
|
Short nose, Hypoplasia of the maxilla, Cleft palate, Abnormal epiphysis morphology, Abnormality o... |
ORPHA:90653 |
| Galactosemia Iii |
|
Hypergalactosemia, Jaundice, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:230350 |
| Carpenter Syndrome 1 |
|
Coxa valga, Lateral displacement of patellae, Toe syndactyly, Micrognathia, Flared iliac wing, Ca... |
OMIM:201000 |
| Acrocephalopolydactyly |
|
Depressed nasal ridge, Short long bone, Short nose, Hepatosplenomegaly, Brachydactyly, Abnormal r... |
ORPHA:221054 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypospadias, Depressed nasal ridge, Anteverted nares, Short nose |
ORPHA:1355 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level... |
OMIM:110100 |
| Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gest... |
ORPHA:567983 |
| Bathing Suit Ichthyosis |
|
Palmoplantar scaling skin, Scaling skin, Epidermal acanthosis |
ORPHA:100976 |
| Infantile Liver Failure Syndrome 1 |
|
Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomegaly, Acute hepatic ... |
OMIM:615438 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Cholecystitis, Nonspherocytic hemolytic a... |
OMIM:235700 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormality of tibia m... |
ORPHA:1802 |
| Leprechaunism |
|
Central hypothyroidism, Hyperinsulinemia, Hyperaldosteronism, Enlarged kidney, Labial hypertrophy... |
ORPHA:508 |
| Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Micrognathia, Hydrour... |
ORPHA:2547 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Irregular menstruation, Polycystic ovaries, Delayed puberty, Hepatomegaly, Oligomenorrhea, Dysmen... |
ORPHA:264580 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Primary amenorrhea, Decreased testicular size, Diabetes mellitus, Absence of pubertal development... |
OMIM:610628 |
| Familial Median Cleft Of The Upper And Lower Lips |
|
Abnormal mandible morphology, Abnormality of orbicularis oris muscle, Abnormal maxilla morphology |
ORPHA:401942 |
| Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Hypotension, Micrognathia, Prominent nasal tip, Broad hallux, Abnormal d... |
ORPHA:439822 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Vesicoureteral reflux, Clinodactyly, Short nose, Hypoplasia of the maxilla, Short dist... |
OMIM:614261 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion, Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of... |
OMIM:155050 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... |
ORPHA:444463 |
| Fibrochondrogenesis 1 |
|
Dumbbell-shaped long bone, Camptodactyly, Cleft palate, Widely patent coronal suture, Short palm,... |
OMIM:228520 |
| Immunodeficiency 48 |
|
Failure to thrive, Panhypogammaglobulinemia, Splenomegaly, Hepatomegaly |
OMIM:269840 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Secondary amenorrhea, Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Di... |
ORPHA:280365 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Malar rash, Nephrotic syndrome, Coombs-positive hemolytic anemia, Neutrop... |
OMIM:603909 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age, Hepatomegaly |
ORPHA:2432 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatic failure, Abnormal serum bile acid concentration, Hyperbilirubinemia, Elevated hepatic tra... |
ORPHA:79303 |
| Testicular Agenesis |
|
Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,... |
ORPHA:325124 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Hemog... |
OMIM:194380 |
| Premature Ovarian Failure 2A |
|
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate... |
OMIM:300511 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Retrognathia, High palate, B lymphocytopenia, Short nose, Depressed nasal bridge, Recurrent upper... |
OMIM:614069 |
| Orthostatic Hypotension 1 |
|
Nasal congestion, High palate, Nocturia, Weakness of facial musculature, Increased blood urea nit... |
OMIM:223360 |
| Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... |
ORPHA:251510 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema |
OMIM:617526 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Renal Hypodysplasia/Aplasia 3 |
|
Abnormality of the uterus, Multicystic kidney dysplasia |
OMIM:617805 |
| Infantile Liver Failure Syndrome 3 |
|
Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon... |
OMIM:618641 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Erythema |
OMIM:617525 |
| Progressive Familial Intrahepatic Cholestasis |
|
Jaundice, Failure to thrive, Cholestasis, Hepatomegaly, Hypocalcemia, Splenomegaly |
ORPHA:172 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
| Dermotrichic Syndrome |
|
Aminoaciduria, Anemia, Aganglionic megacolon, Short nose, Depressed nasal bridge |
ORPHA:99688 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Macrovesicular hepatic steatosis, Hepatomegaly |
OMIM:618234 |
| Perlman Syndrome |
|
Retrognathia, Nephroblastoma, Wide nasal bridge, Micrognathia, Hypoplasia of penis, Short nose, A... |
ORPHA:2849 |
| 20P12.3 Microdeletion Syndrome |
|
Wide nasal bridge, Wolff-Parkinson-White syndrome, Hypoplasia of the maxilla, Depressed nasal bri... |
ORPHA:261295 |
| Cohen Syndrome |
|
Leukopenia, Genu valgum, Convex nasal ridge, Tapered finger, Macrodontia of permanent maxillary c... |
OMIM:216550 |
| Diamond-Blackfan Anemia 6 |
|
Retrognathia, Triphalangeal thumb, Micrognathia, Bifid uvula, Persistence of hemoglobin F, Mitral... |
OMIM:612561 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Clinodactyly of the 5th toe, Palpitations,... |
OMIM:170390 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Scaling skin, Dry skin, Erythema |
OMIM:614457 |
| Marshall-Smith Syndrome |
|
Hallux valgus, Recurrent aspiration pneumonia, Slender finger, Glossoptosis, Choanal atresia, Sho... |
OMIM:602535 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
High palate, Wide nasal bridge, Micrognathia, Clinodactyly, Camptodactyly, Recurrent otitis media... |
OMIM:613604 |
| Wilson Disease |
|
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... |
ORPHA:905 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopathy, Hypo... |
OMIM:620135 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Varicocele, Ovarian carcinoma, Ov... |
OMIM:158350 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Cirrhosis, Type II diabetes mellitus, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly... |
OMIM:616860 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hyperlipi... |
OMIM:214900 |
| Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Hypoplastic labia majora, Elevated circulating fo... |
OMIM:618187 |
| Peho-Like Syndrome |
|
Retrognathia, Tapered finger, Short nose |
OMIM:617507 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Facial hypotonia, Hyperplasia of the maxilla |
OMIM:618383 |
| Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly |
ORPHA:882 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Anemia, Ulcerative colitis, Leukocytosis |
OMIM:619398 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating alanine aminotransferase concentration, Hyperbilirubinem... |
OMIM:614300 |
| Trimethylaminuria |
|
Anemia, Trimethylaminuria, Hypertension, Recurrent pneumonia, Tachycardia, Neutropenia, Splenomegaly |
OMIM:602079 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Skeletal muscle atrophy, Nephritis |
OMIM:274240 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Cirrhosis, Insulin resistance, Hepatic steatosis, Hepatomegaly, Hypertriglyceri... |
ORPHA:363400 |
| Ichthyosis Vulgaris |
|
Dry skin, Absent keratohyalin granules |
OMIM:146700 |
| Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Short foot, Wide nasal bridge, Delayed eruption of teeth, Finger syndact... |
ORPHA:915 |
| Nail-Patella Syndrome |
|
Flexion contracture, Patellar dislocation, Osteochondritis dissecans, Elbow flexion contracture, ... |
ORPHA:2614 |
| Frasier Syndrome |
|
Male pseudohermaphroditism, Gonadal dysgenesis, Ovarian gonadoblastoma, Primary amenorrhea |
OMIM:136680 |
| Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Convex nasal ridge, Short 5th metacarpal, Short middle phalanx of the 5th finger, Short middle ph... |
OMIM:156510 |
| Pediatric Systemic Lupus Erythematosus |
|
Leukopenia, Malar rash, Renal insufficiency, Nephrotic syndrome, Discoid lupus rash, Arthritis, M... |
ORPHA:93552 |
| Even-Plus Syndrome |
|
Vesicoureteral reflux, High palate, Depressed nasal ridge, Recurrent urinary tract infections, An... |
OMIM:616854 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hydronephrosis, Flexion contracture, Fractured radius, Wide nasal bridge, Short ribs, Micrognathi... |
OMIM:616897 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypothyroidism, Hypoplasia of penis, Uterus didelphys |
ORPHA:2491 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Neonatal hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:212138 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,... |
OMIM:205950 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
| Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
| Familial Reactive Perforating Collagenosis |
|
Abnormal epidermal morphology |
ORPHA:79147 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
| Nephronophthisis |
|
Anemia, Renal insufficiency |
ORPHA:655 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
2-3 toe syndactyly, Flexion contracture, High palate, Tapered finger, Wide nasal bridge, Short no... |
OMIM:218000 |
| Fibrochondrogenesis 2 |
|
Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short ribs, Short long bone, Micro... |
OMIM:614524 |
| Liver Failure, Infantile, Transient |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, De... |
OMIM:613070 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Gonadal dysgenesis |
ORPHA:1770 |
| Propionic Acidemia |
|
Hypoglycemia, Hyperammonemia, Hepatomegaly |
ORPHA:35 |
| Congenital Erythropoietic Porphyria |
|
Purple urine, Scleritis, Unconjugated hyperbilirubinemia, Reticulocytosis, Thrombocytopenia, Sple... |
ORPHA:79277 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal ascites, Splenomegaly, Hepatomegaly |
OMIM:619462 |
| Autoimmune Lymphoproliferative Syndrome |
|
Coombs-positive hemolytic anemia, Reticulocytosis, Glomerulonephritis, Gastritis, Eosinophilia, C... |
ORPHA:3261 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Retrognathia, Pulmonary arterial hypertension, Flexion contracture, Mandibular prognathia, Abnorm... |
ORPHA:391372 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Scaling skin, Epidermal acanthosis, Dry skin |
OMIM:612281 |
| Premature Ovarian Failure 14 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:618014 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Camptodactyly of finger, High palate, Tapered finger, Clinodactyly, Hypoplasia of the maxilla, Sh... |
ORPHA:85279 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Stage 5 chronic kidney disease, Hypertension, Hyperlipidemia, Proteinuria, Focal segmenta... |
OMIM:603278 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Muscle fiber splitting, Anemia, Increased variability in muscle fiber diameter, Enamel hypoplasia... |
OMIM:226670 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Decreased fertility, Absence of secondary sex characteristics, Anterior hypopituitarism, Hypothal... |
ORPHA:2235 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty,... |
OMIM:608594 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity |
OMIM:615996 |
| Galactose Epimerase Deficiency |
|
Weight loss, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
| Post-Traumatic Pituitary Deficiency |
|
Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu... |
ORPHA:95619 |
| Chung-Jansen Syndrome |
|
High palate, Tapered finger, Micrognathia, Hip dysplasia, Clinodactyly of the 5th finger, Short n... |
OMIM:617991 |
| Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short nose, Brachy... |
OMIM:601224 |
| Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Anemia, Arthritis, Hematuria, Persistence of primary teeth, Proteinuria, Renal in... |
ORPHA:375 |
| Cenani-Lenz Syndrome |
|
Convex nasal ridge, Toe syndactyly, Hip dislocation, Elbow dislocation, Abnormal rib morphology, ... |
ORPHA:3258 |
| Cutaneous Mastocytoma |
|
Scaling skin, Erythema |
ORPHA:79455 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Decreased fertility, Decreased fertility in females, Hyperinsulinemia, Insulin-resistant diabetes... |
OMIM:269700 |
| Mulibrey Nanism |
|
Cachexia, Hepatomegaly |
ORPHA:2576 |
| Citrullinemia Type Ii |
|
Hepatic fibrosis, Hepatocellular carcinoma, Acute hyperammonemia, Elevated hepatic transaminase, ... |
ORPHA:247585 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Insulin resistance, Elevated hepatic... |
OMIM:615381 |
| Developmental And Epileptic Encephalopathy 73 |
|
Hip dysplasia, Narrow nasal bridge, Flexion contracture, Short nose |
OMIM:618379 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short phalanx of finger, Mandibular prognathia, Advanced ossification of carpal bones, Short meta... |
OMIM:614613 |
| Van Maldergem Syndrome 1 |
|
Dental malocclusion, High palate, Wide anterior fontanel, Wide nasal bridge, Short 4th metacarpal... |
OMIM:601390 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Midgut malrotation, Convex nasal ridge, Short nasal bridge, Delayed eru... |
ORPHA:2409 |
| Autosomal Dominant Omodysplasia |
|
Patellar dislocation, Short 1st metacarpal, Micrognathia, Hypoplasia of penis, Short nose, Elbow ... |
ORPHA:93328 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... |
OMIM:614839 |
| Iga Nephropathy, Susceptibility To, 1 |
|
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephri... |
OMIM:161950 |
| Dysbetalipoproteinemia |
|
Hypothyroidism, Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancreatitis, Increased LDL ... |
ORPHA:412 |
| Acrodysostosis |
|
Short toe, Mandibular prognathia, Depressed nasal ridge, Wide nasal bridge, Delayed eruption of t... |
ORPHA:950 |
| Atelosteogenesis, Type Iii |
|
Micrognathia, Radial bowing, Flat acetabular roof, Tombstone-shaped proximal phalanges, Elbow dis... |
OMIM:108721 |
| Centrifugal Lipodystrophy |
|
Scaling skin, Erythema |
ORPHA:90156 |
| Premature Ovarian Failure 20 |
|
Female infertility, Elevated circulating luteinizing hormone level, Elevated circulating follicle... |
OMIM:619938 |
| Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Coxa valga, Advanced ossification of carpal bones, Proximal fibular overg... |
OMIM:251450 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Increased serum bile acid concentration, Hepatomegaly, Intrahepatic choles... |
OMIM:243300 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Hepatic necrosis, Hepatic steatosis, Hypoglycemic seizures, Fulminant h... |
OMIM:231530 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abnormal pelvic gi... |
ORPHA:2370 |
| Interstitial Cystitis |
|
Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur... |
ORPHA:37202 |
| Polycythemia Vera |
|
Increased red blood cell mass, Cerebral hemorrhage, Cerebral ischemia, Increased hematocrit, Thro... |
OMIM:263300 |
| Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Convex nasal ridge, Mandib... |
ORPHA:1540 |
| Johanson-Blizzard Syndrome |
|
Underdeveloped nasal alae, Anemia, Abnormal nostril morphology, Delayed eruption of teeth, Malabs... |
ORPHA:2315 |
| Malaria |
|
Anemia, Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentr... |
ORPHA:673 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Dental malocclusion, Short toe, Mandibular prognathia, High palate, Hall... |
ORPHA:1327 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Malar prominence, Extramedullary hematopoiesis, Hypoplasia of th... |
ORPHA:231226 |
| Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ... |
ORPHA:3464 |
| Pierpont Syndrome |
|
Wide nose, Short toe, Short foot, Short finger, Short nose, Broad nasal tip, Malar flattening, Sh... |
OMIM:602342 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Increased... |
ORPHA:90044 |
| Omodysplasia 2 |
|
Labial hypoplasia, Clitoral hypoplasia, Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphy... |
OMIM:164745 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperhidrosis, Hyperinsulinemia, Glycosuria, Elevated hepatic transamin... |
ORPHA:263455 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Micrognathia, Recurrent pneumonia, Short nose |
ORPHA:1495 |
| Marburg Hemorrhagic Fever |
|
Hypotension, Reticulocytosis, Elevated circulating creatine kinase concentration, Pericarditis, S... |
ORPHA:99826 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag... |
OMIM:146255 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Abnormality of the liver, Decreased plasma carnitine, Mildly elevated creatine kinase, Hepatomega... |
ORPHA:254864 |
| Pfeiffer Syndrome |
|
Choanal stenosis, Mandibular prognathia, High palate, Short middle phalanx of toe, Humeroradial s... |
OMIM:101600 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma |
ORPHA:454840 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis, Splenomegaly, Hepatomegaly |
ORPHA:86893 |
| Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Scaling skin, Epidermal acanthosis, Dry skin |
OMIM:616295 |
| Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Postaxial hand po... |
OMIM:252100 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Aplasia/Hypoplasia of the tongue, High palate, Aplasia of the pectoralis major mu... |
ORPHA:1358 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Reduced natural killer cell count, T lymphocytopenia, Bronchiectasis, Malabsorption, Micrognathia... |
OMIM:242860 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia |
ORPHA:228312 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Micrognathia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, ... |
OMIM:300946 |
| Diamond-Blackfan Anemia 8 |
|
Wide nasal bridge, Short nose, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Sponastrime Dysplasia |
|
Hip subluxation, Aplasia of the nasal bone, Flat capital femoral epiphysis, Hip dislocation, Ivor... |
ORPHA:93357 |
| Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Coxa valga, Abnormal metaphysis morphology, Delayed erup... |
ORPHA:166272 |
| Codas Syndrome |
|
Short metacarpal, Delayed eruption of teeth, Hydroureter, Short nose, Midline defect of the nose,... |
ORPHA:1458 |
| Hypotrichosis Simplex Of The Scalp |
|
Scaling skin, Epidermal acanthosis |
ORPHA:90368 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Albers-Schönberg Osteopetrosis |
|
Anemia, Genu valgum, Joint dislocation, Osteomyelitis, Arthritis, Abnormal metacarpal morphology,... |
ORPHA:53 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Scaling skin, Psoriasiform lesion |
ORPHA:284426 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Wide nasal bridge, Micrognathia, Hydroureter, Hypoplasia of th... |
OMIM:616367 |
| Posterior Urethral Valve |
|
Retrognathia, Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Uri... |
ORPHA:93110 |
| Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... |
ORPHA:1359 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Renal tubular atrophy, Anemia, Hyperuricemia, Proteinuria, Hyperechogenic kidneys, Renal hypoplas... |
OMIM:613092 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Tapered finger, Coxa valga, Reduced alpha/beta synthesis ratio, Clinodacty... |
OMIM:301040 |
| Van Den Ende-Gupta Syndrome |
|
Convex nasal ridge, Tapered finger, Hallux valgus, Micrognathia, Elbow flexion contracture, Slend... |
OMIM:600920 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis |
OMIM:269600 |
| Mast Cell Sarcoma |
|
Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
| Ddost-Cdg |
|
Hepatic steatosis, Failure to thrive, Elevated hepatic transaminase, Primary hypothyroidism |
ORPHA:300536 |
| Polyembryoma |
|
Irregular menstruation, Macroorchidism, Isosexual precocious puberty, Increased serum testosteron... |
ORPHA:180229 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Short nose, Delayed eruption of permanent teeth, Anteverted nares... |
OMIM:618506 |
| Congenital Disorder Of Glycosylation, Type If |
|
Scaling skin, Dry skin, Optic atrophy |
OMIM:609180 |
| Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Periportal fibrosis, Decreased circulating hepcidin... |
ORPHA:101330 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Mandibular prognathia, Hallux valgus, Hypoplasia of the maxilla, Cone-shaped epiphyses of the 2nd... |
ORPHA:397973 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le... |
OMIM:201750 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Genu valgum, Mandibular prognathia, Depressed nasal ridge, Coxa vara, Short metacarpal... |
ORPHA:2831 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Elevated serum 11-deoxycortisol, Adrenogenital syndrome, Increased serum testosterone level, Decr... |
OMIM:202010 |
| Keipert Syndrome |
|
Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Depressed nasal bridge, Short hallux, ... |
ORPHA:2662 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased serum estradiol, Absenc... |
ORPHA:2232 |
| Periventricular Nodular Heterotopia 7 |
|
Knee flexion contracture, 2-3 toe syndactyly, 1-4 toe syndactyly, 4-5 finger syndactyly, Microgna... |
OMIM:617201 |
| Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Coxa valga, Abnormality of the fifth metatarsal bone,... |
OMIM:311300 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Splenomegaly, Hepatomegaly |
OMIM:617068 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
| Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
| Bile Acid Conjugation Defect 1 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Renal cyst, Gout, Nephropathy, Focal segmental glomerulosclerosis, Elevate... |
OMIM:617056 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Micrognathia, Tibial deviation of the 2nd toe, Short hallux, Radial deviation of finger, Short pa... |
ORPHA:363417 |
| Cystic Echinococcosis |
|
Abnormality of the testis size, Renal cyst, Hepatomegaly, Hepatic cysts, Ovarian cyst |
ORPHA:400 |
| Interstitial Lung And Liver Disease |
|
Hypothyroidism, Hepatic fibrosis, Intraalveolar phospholipid accumulation, Elevated circulating a... |
OMIM:615486 |
| Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Mandibular prognathia, Abnormality of the elbow, Hypoplasia of the premaxill... |
ORPHA:2673 |
| Alpha-Thalassemia |
|
Anemia, Splenomegaly, Hemolytic anemia, Hypersplenism, Jaundice, Abnormal hemoglobin, Cholelithia... |
ORPHA:846 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis, Hyperbilirubine... |
OMIM:617156 |
| Peeling Skin Syndrome 1 |
|
Scaling skin |
OMIM:270300 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
High palate, Micrognathia, Elevated circulating creatine kinase concentration, Short nose, Congen... |
OMIM:615042 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Malar prominence, Hypoplasia of the musculature, Hepatosplenomeg... |
ORPHA:231214 |
| Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly |
OMIM:271500 |
| Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Short nose, Anteverted nares, Br... |
ORPHA:969 |
| Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, D... |
ORPHA:444490 |
| Short Syndrome |
|
Ovarian cyst, Insulin-resistant diabetes mellitus |
OMIM:269880 |
| Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Splenomegal... |
OMIM:300972 |
| Adenylosuccinate Lyase Deficiency |
|
Prominent metopic ridge, Anteverted nares, Short nose |
ORPHA:46 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Absent thumb, Cleft soft palate, Wide nasal bridge, Micrognathia, Thrombo... |
ORPHA:124 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis, Aortic valve calcification, Psoriasiform lesion |
OMIM:616298 |
| Nager Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormal nasal morphology, Micrognathia, Hy... |
ORPHA:245 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| Diamond-Blackfan Anemia 1 |
|
Delayed cranial suture closure, Absent thumb, Micrognathia, Cleft palate, Thrombocytopenia, Parti... |
OMIM:105650 |
| Lathosterolosis |
|
High palate, Toe syndactyly, Micrognathia, Anisopoikilocytosis, Bulbous nose, Hypoplasia of penis... |
ORPHA:46059 |
| Kagami-Ogata Syndrome |
|
Retrognathia, Pulmonary arterial hypertension, Flexion contracture, Diastasis recti, Coxa valga, ... |
OMIM:608149 |
| Cholesteryl Ester Storage Disease |
|
Cirrhosis, Hepatic failure, Jaundice, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, S... |
ORPHA:75234 |
| Van Maldergem Syndrome 2 |
|
Hip subluxation, Dental malocclusion, High palate, Wide anterior fontanel, Wide nasal bridge, Sho... |
OMIM:615546 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Nonketotic hypoglyc... |
ORPHA:99901 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Ischemic stroke, Abnormal intestine morphology, Abnormality of prima... |
ORPHA:1830 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
| Autosomal Recessive Distal Osteolysis Syndrome |
|
Hypoplasia of the maxilla, Short distal phalanx of finger, Broad nasal tip |
ORPHA:2776 |
| Pearson Syndrome |
|
Reticulocytosis, Lacticaciduria, Thrombocytopenia, Splenomegaly, Hyperalaninemia, Hypophosphatemi... |
ORPHA:699 |
| Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,... |
OMIM:618528 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemia |
OMIM:620085 |
| Miller-Dieker Syndrome |
|
Nephropathy, Clinodactyly of the 5th finger, Anteverted nares, Short nose |
ORPHA:531 |
| Immunodeficiency 69 |
|
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly |
OMIM:618963 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Abnormality of the pancreas, Polycystic liver disease, Hepatomegaly |
ORPHA:2924 |
| Trigonocephaly 1 |
|
Wide nasal bridge, Craniosynostosis, Long penis, Short nose, Meckel diverticulum, Metopic synosto... |
OMIM:190440 |
| Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly |
OMIM:610293 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Metaphyseal sclerosi... |
OMIM:260400 |
| Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Fat malabsorption, Hyperbilirubinemia, Keratocon... |
ORPHA:14 |
| Lujan-Fryns Syndrome |
|
Camptodactyly of finger, High palate, Micrognathia, Brachydactyly, Hypoplasia of the maxilla, Ara... |
ORPHA:776 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly |
OMIM:616622 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic ste... |
ORPHA:348 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Anemia, Delayed eruption of teeth, Macroglossia, Congenital hip dislocation, Wormian bones |
OMIM:614450 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly, Hyperglycemia, Hypertrigly... |
OMIM:608600 |
| Tetragametic Chimerism |
|
Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin... |
ORPHA:199310 |
| Caudal Duplication |
|
Abnormal penis morphology, Uterus didelphys, Cryptorchidism |
ORPHA:1756 |
| Peutz-Jeghers Syndrome |
|
Uterine neoplasm, Ovarian cyst, Neoplasm of the pancreas, Precocious puberty with Sertoli cell tumor |
OMIM:175200 |
| Harel-Yoon Syndrome |
|
Mandibular prognathia, Micrognathia, Hip dysplasia, Short nose, Hypertrophic cardiomyopathy, Dist... |
OMIM:617183 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Retrognathia, High palate, Wide nasal bridge, Hip dislocation, Short nose, Nephrocalcinosis, Neut... |
OMIM:618005 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Hypoglycemia, Increased serum pyruvate, Hepatomegaly |
OMIM:614741 |
| Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
| Smith-Kingsmore Syndrome |
|
Diastasis recti, Wide anterior fontanel, Short proximal phalanx of finger, Short nose, Depressed ... |
OMIM:616638 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Delayed cranial suture closure, Bifid tongue, Wide nasal bridge, Micrognathia, Dislocated radial ... |
OMIM:268310 |
| Atrophoderma Vermiculata |
|
Abnormal epidermal morphology, Erythema |
ORPHA:79100 |
| Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Hyperinsulinemia, Hepatomegaly |
ORPHA:79086 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... |
OMIM:613812 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hypoglycemia, Increased serum pyruvate, Hepatomegaly, Decreased li... |
OMIM:246900 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hemolytic-uremic syndrome, Wide nasal bridge, Micrognathia, Camptodactyly, Posterior rib gap, Cle... |
OMIM:611209 |
| Autoimmune Hepatitis |
|
Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ... |
ORPHA:2137 |
| Acromesomelic Dysplasia 3 |
|
Elevated circulating luteinizing hormone level, Hypergonadotropic hypogonadism, Primary amenorrhe... |
OMIM:609441 |
| Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Depressed nasal ridge, Enlarged kidney, Polycystic kidney dysplasia, Short nose, Cle... |
OMIM:613885 |
| Adrenomyodystrophy |
|
Hepatic steatosis, Failure to thrive, Primary adrenal insufficiency |
ORPHA:977 |
| Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Wide nasal bridge |
OMIM:618302 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
| Pemphigus Foliaceus |
|
Acantholysis, Scaling skin, Skin vesicle, Erythema |
ORPHA:79481 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification |
ORPHA:314473 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
White scaling skin, Epidermal acanthosis |
OMIM:604777 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Clinodactyly, Unilambdoid synostos... |
OMIM:618577 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Underdeveloped nasal alae, High palate, Micrognathia, Short nose, Decreased hemoglobin concentrat... |
OMIM:619005 |
| Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Anemia, Hyperuricemia, Hypotension, Stage 5 ... |
OMIM:174000 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Retrognathia, Micrognathia, Supernumerary ribs, Short nose, Meckel diverticulum, Thick nasal alae |
ORPHA:163961 |
| Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, High palat... |
ORPHA:3309 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Ambiguous genitalia, Adrenal hyperplasia, Male pseudohermaphroditism, Pri... |
OMIM:202110 |
| Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar scaling skin, Palmoplantar erythema, Acantholysis |
OMIM:607655 |
| Pediatric Hepatocellular Carcinoma |
|
Hepatic fibrosis, Hepatic necrosis, Elevated circulating alpha-fetoprotein concentration, Portal ... |
ORPHA:33402 |
| Proteus-Like Syndrome |
|
Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
| Verheij Syndrome |
|
Vertebral fusion, Short 5th finger, Wide nasal bridge, Clinodactyly, Hip dislocation, Renal agene... |
OMIM:615583 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Abnormal autonomic nervous system physiology, Cardiomyopathy |
ORPHA:85447 |
| Poikiloderma With Neutropenia |
|
Retrognathia, Leukopenia, Underdeveloped nasal alae, Conjunctivitis, Telangiectasia, Micrognathia... |
OMIM:604173 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Mandibular prognathia, Delayed eruption of primary teeth, Wide nasal bridge... |
ORPHA:819 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus |
ORPHA:371428 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatic failure, Decreased plasma carnitine, Elevated hepatic transaminase, Elevated plasma branc... |
ORPHA:2394 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Macroorchidism |
OMIM:300886 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Convex nasal ridge, Inflammatory abnormality of the eye, Abnormal metacarpal morphology, Hypoplas... |
ORPHA:93262 |
| Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Micrognathia, Cardiac arrest, Metatarsus add... |
OMIM:212720 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Short phalanx of finger, Delayed cranial suture closure, Flexion contracture, High palate, Narrow... |
OMIM:608612 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Short nose |
ORPHA:2429 |
| Donnai-Barrow Syndrome |
|
Short sternum, Non-acidotic proximal tubulopathy, Wide anterior fontanel, Diaphragmatic eventrati... |
OMIM:222448 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Micrognathia, Hypoplasia of penis, Short nose... |
ORPHA:2083 |
| 3C Syndrome |
|
Finger syndactyly, Ectopic anus, Wide nasal bridge, Micrognathia, Missing ribs, Hand polydactyly,... |
ORPHA:7 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Delayed cranial suture closure, Elbow ankylosis, Narrow pelvis bone, Sho... |
ORPHA:83 |
| Clark-Baraitser Syndrome |
|
High palate, Clinodactyly, Short nose, Depressed nasal bridge, Sandal gap, Anteverted nares, Low ... |
OMIM:617752 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intermittent jaundice, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Failure to ... |
OMIM:601847 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Flexion contracture, Tapered finger, Interphalangeal thumb joint contracture, Aganglionic megacol... |
OMIM:613870 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Pituitary Adenoma 1, Multiple Types |
|
Irregular menstruation, Increased circulating prolactin concentration, Left ventricular hypertrop... |
OMIM:102200 |
| Elastosis Perforans Serpiginosa |
|
Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Elevated circulating alanine aminotransferase concentration, Cirrhosis, Hepatic failure, Microves... |
OMIM:256810 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Scaling skin |
OMIM:604536 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
3-Methylglutaconic aciduria, Mandibular prognathia, Micrognathia, Hip dysplasia, Short nose, Hype... |
ORPHA:496790 |
| Bazex Syndrome |
|
Scaling skin |
ORPHA:166113 |
| Pycnodysostosis |
|
Delayed cranial suture closure, Convex nasal ridge, Micrognathia, Hepatosplenomegaly, Hypoplastic... |
ORPHA:763 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Absent nares, Hypoplasia of the premaxilla, Renal hypoplasia/aplasia, Micrognathia, Hypoplasia of... |
ORPHA:2166 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
| Schneckenbecken Dysplasia |
|
Metaphyseal irregularity, Dumbbell-shaped long bone, Advanced ossification of carpal bones, Anter... |
OMIM:269250 |
| Mpdu1-Cdg |
|
Scaling skin, Optic atrophy |
ORPHA:79323 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Micrognathia, Short nose, Broad nasal tip, Prominent nasal bridge |
OMIM:613544 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Recurrent sinusitis, Hepatosplenomegaly, Increased circulating ferritin concentration, He... |
OMIM:613101 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
| Diaphanospondylodysostosis |
|
Depressed nasal ridge, Micrognathia, Enlarged kidney, Narrow pelvis bone, Missing ribs, Cystic re... |
OMIM:608022 |
| Distal Monosomy 10Q |
|
Tapered finger, Wide nasal bridge, Micrognathia, Hip dislocation, Facial diplegia, 2-3 toe cutane... |
ORPHA:96148 |
| 8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal nostril morphology, Depressed nasal ridge, Wide nasal bridge, F... |
ORPHA:178303 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Methylmalonic aciduria, High palate, Elevated urinary aminoisobutyric acid, Methylmalonic acidemi... |
OMIM:614105 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... |
OMIM:614470 |
| Ichthyosis With Confetti |
|
Scaling skin |
OMIM:609165 |
| Hodgkin Lymphoma |
|
Weight loss, Hyperhidrosis, Splenomegaly, Hepatomegaly |
ORPHA:98293 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Hypoplasia of the maxilla, Mandibular prognathia, High palate, Prominent nasal bridge |
OMIM:300676 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Fibrous Dysplasia Of Bone |
|
Precocious puberty in females, Hyperthyroidism, Increased circulating cortisol level, Thyroid car... |
ORPHA:249 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Flexion contracture, Mandibular prognathia, High palate, Distal lower limb amyotrophy, Micrognath... |
OMIM:300534 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Hypothyroidism, Left ventricular hypertrophy, Elevated hepatic transaminase, Elevated circulating... |
OMIM:617713 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Optic atrophy, Hepatomegaly, Thrombocytopenia, Splenomegaly, Facial palsy |
OMIM:615085 |
| Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Cerebral hemorrhage, Increased hematocrit, Hypertension, Myocardia... |
OMIM:133100 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Hyperuricemia, Nephritis, Gout, Nephropathy, Decreased glomerular filtrati... |
OMIM:162000 |
| Glutamine Deficiency, Congenital |
|
Flexion contracture, Wide nasal bridge, Hypoglutaminemia, Camptodactyly, Short nose, Depressed na... |
OMIM:610015 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Wide nasal bridge, Short nose, Intestinal malrotation, Dislocated radial head, Ectopic kidney, Br... |
ORPHA:401935 |
| Cleidocranial Dysplasia 2 |
|
Genu valgum, Coxa valga, Wide anterior fontanel, Delayed eruption of primary teeth, Aplastic clav... |
OMIM:620099 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami... |
OMIM:614921 |
| Achondrogenesis Type 1A |
|
Short foot, Micrognathia, Multiple rib fractures, Short nose, Anteverted nares, Short palm |
ORPHA:93299 |
| Infantile Systemic Hyalinosis |
|
Aplasia/Hypoplasia of the thymus, Polycystic ovaries, Abnormality of the adrenal glands |
ORPHA:2176 |
| Isolated Agammaglobulinemia |
|
Anemia, Malabsorption, Arthritis, Inflammatory abnormality of the eye, Clinodactyly of the 5th to... |
ORPHA:229717 |
| Simple Cryoglobulinemia |
|
Chronic lymphatic leukemia, Nephrotic syndrome, Arthritis, Abnormality of the kidney, Raynaud phe... |
ORPHA:91139 |
| Feingold Syndrome Type 1 |
|
2-3 toe syndactyly, Renal dysplasia, Toe syndactyly, Micrognathia, Short middle phalanx of the 2n... |
ORPHA:391641 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglycemia, Hyperalaninemia, Increased serum pyruvate, Hepatomegaly |
OMIM:266150 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Genu valgum, Short femoral neck, Slender long bones with narrow diaphyses, Metaphyseal striations... |
OMIM:608154 |
| Gray Platelet Syndrome |
|
Abnormality of the menstrual cycle, Splenomegaly |
ORPHA:721 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Short sternum, Nephroblastoma, Multicystic kidney dysplasia, Micrognathia, Pulmonic st... |
OMIM:257300 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Achondrogenesis Type 1B |
|
Micrognathia, Short nose, Anteverted nares, Abnormal rib morphology, Short foot |
ORPHA:93298 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... |
OMIM:603552 |
| Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Hyperuricemia, Decreased response to growth hormone stimulation... |
OMIM:203800 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia, Failure to thrive, Acute hyperammonemia |
OMIM:210200 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect |
OMIM:619170 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Short nose, Epiphyseal dysplasia, Depressed nasal bridge, Hypospadias, Hypercalcemia, Metaphyseal... |
OMIM:614732 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Mandibular prognathia, Genu valgum, Osteomyelitis, Pancytopenia, Hepatosplenomegaly, Diap... |
OMIM:259710 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Wide anterior fontanel, Micrognathia, Clinodactyly, Short nose, Anteriorly placed anus, Depressed... |
OMIM:217980 |
| Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Short nose, Intestinal malrotation, Congenital diaphragmatic hernia, Depr... |
ORPHA:2143 |
| Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Adrenal insufficiency, Increased ci... |
ORPHA:91349 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Short nose, Hypertrophic cardiomyopathy, Anteverted nares, Brachydactyl... |
ORPHA:2701 |
| Fetal Trimethadione Syndrome |
|
High palate, Micrognathia, Short nose, Depressed nasal bridge, Hypospadias |
ORPHA:1913 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Labial pseudohypertrophy, Type II diabetes mellitus, Polycystic ovaries, Hepato... |
OMIM:151660 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Triphalangeal thumb, Vesicoureteral reflux, Contractures of the large joints, Micrognathia, Short... |
ORPHA:3078 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia, Short nose, Depressed nasal bridge, Hypospadias |
OMIM:616910 |
| Immunodeficiency 76 |
|
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly |
OMIM:619164 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hepatic steatosis, Failure to thrive, Decreased liver function |
ORPHA:70472 |
| Lesch-Nyhan Syndrome |
|
Anemia, Hyperuricemia, Hematuria, Gout, Renal insufficiency |
ORPHA:510 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
| Dysostosis, Stanescu Type |
|
Convex nasal ridge, Massively thickened long bone cortices, Abnormal nasal morphology, Macrogloss... |
ORPHA:1798 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Hepatitis, Hypertrophic cardiomyopathy, Thrombocytopenia... |
ORPHA:848 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... |
OMIM:619849 |
| Cowden Syndrome |
|
Enlarged polycystic ovaries, Adenoma sebaceum, Abnormality of the uterus, Neoplasm of the thyroid... |
ORPHA:201 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Intrahepatic choles... |
OMIM:235555 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Anteverted nares, Depressed nasal bridge, Wide nasal bridge, Short nose |
OMIM:616430 |
| Lathosterolosis |
|
High palate, Wide nasal bridge, Abnormal circulating cholesterol concentration, Toe syndactyly, M... |
OMIM:607330 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Genu valgum, Abnormal metacarpal morphology, Hypoplasia of penis, Sh... |
ORPHA:1295 |
| Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti... |
OMIM:617514 |
| Ohdo Syndrome |
|
Wide nasal bridge, Micrognathia, Clinodactyly of the 5th finger, Short nose, Depressed nasal brid... |
OMIM:249620 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Cardiomeg... |
OMIM:608836 |
| Neurooculocardiogenitourinary Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Bilateral cryptorchidism, Redundant neck skin, A... |
OMIM:618652 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly |
ORPHA:100025 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Aplasia/Hypoplasia of the thumb, Hydronephrosis, High palate, Abnormal car... |
ORPHA:1225 |
| Mu-Heavy Chain Disease |
|
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:100024 |
| Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jaundice, Acholic stools, ... |
OMIM:617394 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Renal tubular atrophy, Hepatosplenomegaly, Intestinal obstruction, Renal interstitial amyloid dep... |
ORPHA:85450 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Micrognathia, Short nose, Skeletal muscle atrophy, Slender nose, Joint contracture |
OMIM:615419 |
| Diffuse Cutaneous Mastocytosis |
|
Scaling skin, Hepatomegaly |
ORPHA:79456 |
| Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal mandible morphology, Jaw swelling, Hyperplasia of the maxilla, Supe... |
ORPHA:83451 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Delayed eruption of teeth, Short metaca... |
ORPHA:508542 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Increased intr... |
ORPHA:98907 |
| Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
| Prune Belly Syndrome |
|
Decreased fertility, Urogenital sinus anomaly, Multicystic kidney dysplasia, Congenital posterior... |
ORPHA:2970 |
| Khan-Khan-Katsanis Syndrome |
|
Vesicoureteral reflux, Anemia, Delayed closure of the anterior fontanelle, Tricuspid regurgitatio... |
OMIM:618460 |
| Vulvovaginal Gingival Syndrome |
|
Epidermal acanthosis, Abnormality of female external genitalia, Erythema |
ORPHA:83453 |
| Dpm1-Cdg |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic steatosis, Elevated ... |
ORPHA:79322 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Underdeveloped nasal alae, Dental malocclusion, Macrodontia of permanent maxillary central inciso... |
OMIM:257850 |
| Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hypoch... |
ORPHA:71 |
| Marshall Syndrome |
|
Genu valgum, High palate, Wide nasal bridge, Hypoplastic frontal sinuses, Micrognathia, Short nos... |
ORPHA:560 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,... |
OMIM:259600 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, High palate, Short 5th metacarpal, Clinodactyly of the 5th finger, P... |
OMIM:617877 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Increased serum iron, Increased circulating ferritin concentration, Hepatomegaly, Sple... |
OMIM:602390 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Genu varum, Anemia, Proximal tubulopathy, High palate, Stage 3 chronic kidney disease, Type 2 mus... |
OMIM:619743 |
| Galactosemia I |
|
Elevated circulating alanine aminotransferase concentration, Increased level of galactonate in re... |
OMIM:230400 |
| 16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Tapered finger, Hallux valgus, Short 5th finger, Short nose, Cl... |
ORPHA:485405 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Bilateral triphalangeal thumbs, Short nose, Short distal phalanx of toe, Delayed er... |
OMIM:619356 |
| Holoprosencephaly 7 |
|
Hypoplasia of the premaxilla, Wide nasal bridge, Absent nasal septal cartilage, Bifid nose, Media... |
OMIM:610828 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Hip dislocation, Postaxial hand polydactyl... |
OMIM:146510 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Peptic ulcer, Hyperuricemia, Increased red b... |
ORPHA:90041 |
| Craniodigital-Intellectual Disability Syndrome |
|
Micrognathia, Narrow nasal bridge, Finger syndactyly, Short nose |
ORPHA:1514 |
| Bartsocas-Papas Syndrome |
|
Underdeveloped nasal alae, Absent thumb, Finger syndactyly, Toe syndactyly, Micrognathia, Renal h... |
ORPHA:1234 |
| Facial Paresis, Hereditary Congenital, 3 |
|
High palate, Micrognathia, Short nose, Depressed nasal bridge, Anteverted nares, Facial palsy |
OMIM:614744 |
| Edinburgh Malformation Syndrome |
|
Micrognathia, Ulnar deviation of finger, Short nose, Slender finger, Anteverted nares, Long finge... |
ORPHA:1895 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... |
OMIM:615513 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Metaphyseal cupping, Phosphoethanolaminuria, Elevated urin... |
OMIM:241500 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Single naris, Hypoplasia of the premaxilla, Hypoplasia ... |
OMIM:610829 |
| Marshall Syndrome |
|
Coxa valga, Micrognathia, Bifid uvula, Irregular distal femoral epiphysis, Cleft palate, Recurren... |
OMIM:154780 |
| Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Hypotension, Acute kidney injury, Neutrophilia, He... |
ORPHA:91547 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Hyperammonemia, Hepatomegaly |
ORPHA:28 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Flared iliac wing, Elbow disl... |
ORPHA:90652 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Preaxial hand polydactyly, Micrognathia, Short nose, Hypoplasia of the maxilla, Cleft palate, Mal... |
ORPHA:79113 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Convex nasal ridge, Aplasia of the nasal bone, Delayed eruption o... |
OMIM:601812 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Short phalanx of finger, T lymphocytopenia, Micrognathia, Elbow flexion contracture, Aplasia/hypo... |
ORPHA:508533 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Iliac crest serration, Pulmonary arterial hypertension, Metaphyseal cupping, Short rib... |
OMIM:613320 |
| Intellectual Disability-Strabismus Syndrome |
|
Congenital finger flexion contractures, High palate, Prominent nose, Joint contracture of the han... |
ORPHA:363528 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatitis, Jaundice, Hepatic failure, Hepatomegaly |
ORPHA:60 |
| Cleft Lip/Palate |
|
Dental malocclusion, Agenesis of lateral incisor, Velopharyngeal insufficiency, Peg-shaped maxill... |
ORPHA:199306 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Jaundice... |
OMIM:617049 |
| Muckle-Wells Syndrome |
|
Camptodactyly of finger, Conjunctivitis, Anemia, Recurrent aphthous stomatitis, Nephrotic syndrom... |
ORPHA:575 |
| Aicardi Syndrome |
|
Bifid ribs, Small hand, Block vertebrae, Malabsorption, Hip dysplasia, Supernumerary ribs, Missin... |
ORPHA:50 |
| Crouzon Syndrome |
|
Conjunctivitis, Convex nasal ridge, Narrow palate, Hypoplasia of the maxilla, Multiple suture cra... |
ORPHA:207 |
| Osteoglophonic Dysplasia |
|
Short phalanx of finger, Short palm, Pseudoarthrosis, Eruption failure, Broad phalanx, Broad meta... |
OMIM:166250 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Insulin resistance, Elevated hepatic transaminase, Elevated circulating creatin... |
OMIM:613327 |
| Coach Syndrome 3 |
|
Renal tubular atrophy, Anemia, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal... |
OMIM:619113 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypogonadism, Azoospermia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegal... |
OMIM:615234 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea... |
ORPHA:90794 |
| Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Epistaxis, Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:616176 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Decreased circulating antibody level, Hepatitis, Increased circulating ferritin concentration, He... |
OMIM:300635 |
| Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Hypoplasia of the maxilla, Mandibular prognathia, Anal atresia |
ORPHA:93950 |
| Gomez-Lopez-Hernandez Syndrome |
|
High palate, Wide anterior fontanel, Short nose, Anteverted nares, Malar flattening, Craniosynost... |
OMIM:601853 |
| Mal De Meleda |
|
Epidermal acanthosis, Erythema |
ORPHA:87503 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Retrognathia, Wide nose, Neurogenic bladder, Micrognathia, Congestive heart failure, Short nose, ... |
OMIM:608779 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Neuropathic arthropathy, Abnormal renal physiology, Hypertension, Glomerular sclerosis, Increased... |
OMIM:223900 |
| C Syndrome |
|
High palate, Renal cortical cysts, Wide nasal bridge, Short metacarpal, Toe syndactyly, Micrognat... |
OMIM:211750 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Horizontal ribs, Short phalanx of finger, Early ossification of capital femoral epiphyses, Conjug... |
OMIM:208500 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Depressed nasal ridge, Abnormality of the calcaneus, Short foot, Microgna... |
ORPHA:163966 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glycosuria, Jaundice, Hepatic steatosis, Hypoglycemia, Elevated circulating glutaric acid concent... |
OMIM:231680 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating total IgM, Reduced natural killer cell activity, Decreased circulating IgE,... |
OMIM:300400 |
| Autosomal Recessive Omodysplasia |
|
Micrognathia, Abnormal morphology of the radius, Pterygium, Short nose, Elbow dislocation, Hypopl... |
ORPHA:93329 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Cirrhosis, Glucose intolerance, Hepatocellular carcinoma, Elevated hepatic transami... |
OMIM:235200 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Scaling skin, Dry skin |
OMIM:618373 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Nephronophthisis 19 |
|
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... |
OMIM:616217 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Wide nasal bridge, Toe syndactyly, Micrognathia, Flared iliac wing, Apla... |
OMIM:609945 |
| Aicardi Syndrome |
|
Bifid ribs, Block vertebrae, Supernumerary ribs, Missing ribs, Prominence of the premaxilla, Recu... |
OMIM:304050 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic failure, Hepatic fibrosis, Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly |
OMIM:616719 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Flexion contracture, High palate, Limb hypertonia, Hip dislocation, Increased laxity of ankles, H... |
ORPHA:481152 |
| Hyperparathyroidism, Transient Neonatal |
|
Ovarian cyst, Hyperparathyroidism, Enlarged kidney |
OMIM:618188 |
| Prolactinoma |
|
Impotence, Decreased female libido, Anterior hypopituitarism, Secondary growth hormone deficiency... |
ORPHA:2965 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Mandibular prognathia, High palate, Wide nasal bridge, Clinodactyly, Camptodactyly, Macroglossia,... |
ORPHA:369891 |
| Raine Syndrome |
|
Enamel hypoplasia, Choanal stenosis, Mandibular prognathia, High palate, Hydronephrosis, Natal to... |
OMIM:259775 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short ribs, Short long bone, Coarse metaphyseal trabecularization, Short nose, Depressed nasal br... |
OMIM:618961 |
| Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Toluene Embryopathy |
|
Tapered finger, Micrognathia, Short nose, Abnormal localization of kidney, Hypoplasia of the zygo... |
ORPHA:1920 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Broad long bone diaphyses, Wide nasal bridge, Stage 5 chronic kidney disease, Short iliac bones, ... |
OMIM:614376 |
| Fanconi Anemia, Complementation Group P |
|
Anemia, Absent thumb, Short thumb, Micrognathia, Hypoplasia of the radius, Pancytopenia, Pelvic k... |
OMIM:613951 |
| Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Narrow maxilla, Arachnodactyly, High palate, Camptodactyly, Anal atresia, Clinodactyly of the 5th... |
OMIM:617602 |
| Aarskog-Scott Syndrome |
|
Short 5th finger, Short foot, Wide nasal bridge, Hyperextensibility of the finger joints, Clinoda... |
OMIM:305400 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Short phalanx of finger, Dental malocclusion, Hyperphosphatemia, Mandibular prognathia, Short met... |
OMIM:101800 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Arachnodactyly, Flexion contracture, High palate, Hyperextensibility of the finger joints, Microg... |
OMIM:309520 |
| Familial Benign Copper Deficiency |
|
Anemia, Wide nasal bridge, Decreased circulating copper concentration, Diaphyseal thickening, Acne |
ORPHA:1551 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Lobulated tongue, 2-3 toe syndactyly, Clinodactyly of the 5th finger, Short nose, Depressed nasal... |
OMIM:613443 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose |
ORPHA:438178 |
| Cerebrofacioarticular Syndrome |
|
Bilateral choanal atresia/stenosis, Wide nasal bridge, Micrognathia, Caudal appendage, Camptodact... |
ORPHA:314679 |
| Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormality of the peritoneum, Mediastinal lymphadenopathy |
ORPHA:545 |
| Skraban-Deardorff Syndrome |
|
Micrognathia, Hyperplasia of the maxilla, Recurrent otitis media, Depressed nasal bridge, Antever... |
OMIM:617616 |
| Acitretin/Etretinate Embryopathy |
|
Third degree atrioventricular block, High palate, Hypoplasia of the thymus, Abnormality of the ca... |
ORPHA:40366 |
| Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Jaundice, Biliary tract abnormality, Hepatomegaly, Conjugated hyperbili... |
ORPHA:234 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of... |
OMIM:618849 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Nephroblastoma, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglycer... |
ORPHA:158057 |
| Arthrogryposis, Distal, Type 2A |
|
Knee flexion contracture, Wrist flexion contracture, Underdeveloped nasal alae, Mandibular progna... |
OMIM:193700 |
| Non-Distal Trisomy 13Q |
|
High palate, Micrognathia, Short nose, Arachnodactyly, Postaxial hand polydactyly |
ORPHA:1702 |
| Schimke Immunoosseous Dysplasia |
|
Wide nasal bridge, Thrombocytopenia, Stage 5 chronic kidney disease, Transient ischemic attack, H... |
OMIM:242900 |
| White Sponge Nevus 2 |
|
Epidermal acanthosis |
OMIM:615785 |
| Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Very long chain fatty a... |
ORPHA:98908 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Weight loss, Elevated hepatic transaminase, Left ventricular hy... |
OMIM:619487 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal stenosis, Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, Short nose, T... |
OMIM:619859 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Progressive calcification of costochondral cartilage, M... |
OMIM:271665 |
| Fanconi Anemia, Complementation Group S |
|
Underdeveloped nasal alae, Dental malocclusion, Anemia, Narrow palate, Clinodactyly, Proximal pla... |
OMIM:617883 |
| Severe Hemophilia A |
|
Anemia, Epidural hemorrhage, Synovitis, Intracranial hemorrhage, Epistaxis, Subdural hemorrhage, ... |
ORPHA:169802 |
| Myhre Syndrome |
|
Mandibular prognathia, Abnormal metaphysis morphology, Large iliac wing, Bifid uvula, Submucous c... |
ORPHA:2588 |
| Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures |
|
Hypoplasia of the maxilla, Bulbous nose |
OMIM:618737 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Retrognathia, 2-3 toe syndactyly, High palate, Tapered finger, Wide nasal bridge, Micrognathia, C... |
OMIM:617061 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:289548 |
| Intermediate Osteopetrosis |
|
Dental malocclusion, Anemia, Osteomyelitis, Erlenmeyer flask deformity of the femurs, Hypocalcemi... |
ORPHA:210110 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:168558 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Calvarial osteosclerosis, Partial duplication of the phal... |
OMIM:616331 |
| Distal Xq28 Microduplication Syndrome |
|
High palate, Clinodactyly, Metatarsus adductus, Hypoplasia of the maxilla, Epistaxis, Neonatal hy... |
ORPHA:293939 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unicornuate uterus, Multicystic kidney dysplasia, Renal cyst, Aplasia of the uterus, Urethral ste... |
OMIM:614527 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conjunctivitis, 2-3 toe syndactyly, Wide nasal bridge, Hypoplasia of the maxilla, Bilateral choan... |
OMIM:106260 |
| Isolated Biliary Atresia |
|
Hypothyroidism, Atretic gallbladder, Cirrhosis, Periportal fibrosis, Small for gestational age, J... |
ORPHA:30391 |
| Alport Syndrome 1, X-Linked |
|
Glomerular basement membrane lamellation, Renal insufficiency, Nephrotic syndrome, Stage 5 chroni... |
OMIM:301050 |
| Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
| Alkuraya-Kucinskas Syndrome |
|
High palate, Micrognathia, Clinodactyly, Camptodactyly, Short nose, Overlapping toe, Adducted thu... |
OMIM:617822 |
| Coffin-Lowry Syndrome |
|
Wide nose, High palate, Narrow palate, Tapered finger, Delayed eruption of teeth, Short metacarpa... |
ORPHA:192 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Polycystic kidney dysplasia, Hip dislocation, Short nose, Hepatosplenomegaly, Depressed nasal bridge |
OMIM:608776 |
| Trisomy 12P |
|
Wide nasal bridge, Micrognathia, Clinodactyly of the 5th finger, Anal atresia, Short nose, Abnorm... |
ORPHA:1699 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Anemia, Enterocolitis, Villous atrophy, Skin rash, Pancytopeni... |
OMIM:616050 |
| Cohen Syndrome |
|
Genu valgum, Aplasia/Hypoplasia of the tongue, Tapered finger, Finger syndactyly, Prominent nasal... |
ORPHA:193 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Retrognathia, Micrognathia, Prominent nasal tip, Persistence of hemoglobin F, Anteverted nares |
OMIM:617101 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly |
OMIM:619658 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
High palate, Short nose, Anteverted nares, Prominent nasal bridge, Prominent fingertip pads |
OMIM:300558 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Convex nasal ridge, High palate, Pulmonary insufficiency, Micrognathia, Prominence of the premaxi... |
OMIM:614437 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Thrombocytopenia, Heavy pro... |
ORPHA:505248 |
| Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
| Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Delayed closure of the anterior fontanelle, Short foot, Small hand, Calvarial osteosclero... |
OMIM:244460 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Hydrocele testis, Ovarian serous cystadenoma |
ORPHA:276280 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Wide nasal bridge, Micrognathia, Clinodactyly, Camptodactyly, Short nose, Broa... |
OMIM:618529 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Hypoplastic labia majora, Clitoral hypoplasia, Scaling skin, Gonadal dysgenesis, Dry skin, Hypopl... |
OMIM:618419 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cirrhosis, Jaundice, Failure to thrive, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis wi... |
OMIM:211600 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic fibrosis, Hepatic failure, Elevated hepatic transaminase, Hepatosplenomegaly, Hepatic ste... |
ORPHA:541423 |
| Vitamin K Antagonist Embryofetopathy |
|
Epiphyseal stippling, Macroglossia, Short nose, Depressed nasal bridge, Anteverted nares, Brachyd... |
ORPHA:1914 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Diaphragmatic eventration, Elbow flexion contracture, Short nose, Contracture of the proximal int... |
OMIM:612394 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hypoplasia of the thymus, Perianal abscess, Wide nasal bridge, Hepatosplenomegaly, Panniculitis, ... |
OMIM:612541 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
High palate, Camptodactyly, Short nose, Adducted thumb, Facial hypotonia, Mitral regurgitation, A... |
OMIM:615539 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepatic failure, Decr... |
ORPHA:228308 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Depressed nasal ridge, Recurrent urinary tract infections, Volvulus,... |
ORPHA:847 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hyperalaninemia, Elevated hepatic transaminase, Hyperprolinemia, Hepatomegaly, Cardiomegaly, Fail... |
OMIM:619064 |
| Au-Kline Syndrome |
|
Bifid tongue, Coxa valga, Bifid uvula, Overlapping toe, Prominent metopic ridge, Cleft palate, Ve... |
OMIM:616580 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Toe syndactyly, Micrognathia, Taurodontia, Broad columella, Short hallux... |
ORPHA:2710 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Formiminoglutamic Aciduria |
|
Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic anemia, Abnormal circ... |
ORPHA:51208 |
| Alport Syndrome |
|
Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation... |
ORPHA:63 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid tongue, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, Dislocated radial head,... |
OMIM:180700 |
| Burn-Mckeown Syndrome |
|
Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge, Short nose |
ORPHA:1200 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Irregular menstruation, Hypothyroidism, Enlarged kidney, Thyroiditis, Polycystic ovaries, Delayed... |
ORPHA:79259 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Dental malocclusion, Genu valgum, Narrow palate, Wide anterior fontanel, Joint contracture of the... |
OMIM:182212 |
| Pfeiffer Syndrome Type 3 |
|
Hallux varus, Vesicoureteral reflux, Hydronephrosis, High palate, Finger syndactyly, Small hand, ... |
ORPHA:93260 |
| Oculodentodigital Dysplasia |
|
Taurodontia, Hip dislocation, Cleft palate, Uveitis, Short nose, Arrhythmia, Carious teeth, 3-4 t... |
OMIM:164200 |
| Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Anemia, Polyuria, Nephronophthisis |
OMIM:606996 |
| Nablus Mask-Like Facial Syndrome |
|
Retrognathia, High palate, Tapered finger, Joint contracture of the hand, Wide nasal bridge, Clin... |
OMIM:608156 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Myositis, Hypertrophic cardiomyopathy, Intestinal obstruction, Eosinophilia, Endo... |
ORPHA:183 |
| Ogden Syndrome |
|
Metatarsus valgus, Delayed cranial suture closure, Torsade de pointes, Wide nasal bridge, Microgn... |
OMIM:300855 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Short phalanx of finger, Micrognathia, Elbow flexion contracture, Metaphyseal rarefa... |
OMIM:601559 |
| Ruvalcaba Syndrome |
|
Convex nasal ridge, Cone-shaped epiphysis, Small hand, Short metacarpal, Abnormality of the elbow... |
ORPHA:3121 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Renal insufficiency, Hyperammonemia, Thrombocytopenia, Neutropenia, Pancreatitis, Renal t... |
ORPHA:289916 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Leukopenia, Anemia, Thrombocytopenia, Hyperammonemia, Macrocytic anemia, Renal insufficiency, Pan... |
ORPHA:27 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria, Short nose |
ORPHA:833 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
| Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,... |
OMIM:615962 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Porphyrinuria, Nephropathy, Proximal muscle... |
ORPHA:79273 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ankle clonus, High palate, Restrictive cardiomyopathy, Hydroureter, Hypoplasia of the ulna, Short... |
OMIM:615398 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Conjugated hyperbilirubinemia |
OMIM:605479 |
| Tarp Syndrome |
|
Short sternum, High palate, Wide nasal bridge, Tongue nodules, Hypoplasia of the radius, Microgna... |
OMIM:311900 |
| Axenfeld-Rieger Syndrome |
|
Wide nasal bridge, Hypoplasia of the maxilla, Depressed nasal bridge, Hypospadias, Anal stenosis |
ORPHA:782 |
| Baraitser-Winter Syndrome 1 |
|
Retrognathia, Wide nasal bridge, Short nose, Duplication of phalanx of hallux, Anteverted nares, ... |
OMIM:243310 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Mandibular prognathia, Narrow palate, Convex nasal ridge, Ectopi... |
ORPHA:87 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Absent nasal bridge, Toe syndactyly, Microretrognathia, Short nose, Arrh... |
ORPHA:261211 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Epidermal acanthosis |
ORPHA:79395 |
| Rapp-Hodgkin Syndrome |
|
Underdeveloped nasal alae, Enamel hypoplasia, Velopharyngeal insufficiency, Bifid uvula, Taurodon... |
OMIM:129400 |
| Warburg Micro Syndrome 3 |
|
Flexion contracture, Narrow palate, Decreased muscle mass, Ankle clonus, Micrognathia, Clinodacty... |
OMIM:614222 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Anemia, Osteomyelitis, Arthritis, Skin rash, Vasculitis, Inflammation of the large intestine, Cra... |
ORPHA:324964 |
| Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Abnormal autonomic nervous system physiology, Left ventricular hypert... |
ORPHA:85451 |
| Tubulointerstitial Nephritis With Uveitis |
|
Non-caseating epithelioid cell granulomatosis, Acute tubulointerstitial nephritis, Uveitis, Glome... |
OMIM:607665 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hyperalaninemia, Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Bile duct prolif... |
OMIM:618329 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Meier-Gorlin Syndrome 5 |
|
Patellar aplasia, Micrognathia, Slender long bone, Clinodactyly, Submucous cleft hard palate, Elb... |
OMIM:613805 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Hydronephrosis, Decreased muscle mass, High palate, Tapered finger, Malrotation of small bowel, C... |
ORPHA:2953 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Vesicoureteral reflux, High palate, Renal dysplasia, Micrognathia, Bladder trabeculation, Anal at... |
OMIM:614080 |
| 8P23.1 Microdeletion Syndrome |
|
High palate, Tapered finger, Wide nasal bridge, Micrognathia, Short nose, Congenital diaphragmati... |
ORPHA:251071 |
| Acrodysostosis With Multiple Hormone Resistance |
|
Short phalanx of finger, Short toe, Hyperphosphatemia, Mandibular prognathia, Low urinary cyclic ... |
ORPHA:280651 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Delayed cranial suture closure, Flexion contracture, High palate, Wide nasal bridge, Short nose, ... |
OMIM:619383 |
| Lead Poisoning |
|
Tubulointerstitial nephritis, Abnormal T cell morphology, Anemia, Delayed eruption of teeth, Skin... |
ORPHA:330015 |
| Complement Factor I Deficiency |
|
Septic arthritis, Recurrent urinary tract infections, Pyelonephritis, Recurrent sinusitis, Recurr... |
OMIM:610984 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Epiphyseal stippling of toe phalanges, Depressed nasal ridge, Stippling of the epiphyses of the d... |
ORPHA:79345 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Hypoplasia of the maxilla, Depressed nasal bridge, Clinodactyly of the 5th finger, Wide nasal bridge |
OMIM:167730 |
| Goldberg-Shprintzen Syndrome |
|
Vesicoureteral reflux, Tapered finger, Small hand, Wide nasal bridge, Limb hypertonia, Aganglioni... |
OMIM:609460 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Small hand, Short nose, Brachydactyly, Cone-shaped epiphysis, Osteoarthritis, Delayed epiphyseal ... |
OMIM:618618 |
| Immunodeficiency 102 |
|
Leukopenia, Anemia, Reduced natural killer cell count, B lymphocytopenia, Bronchiectasis, Neutrop... |
OMIM:301082 |
| Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Arthrogryposis multiplex congenita |
OMIM:601809 |
| Gaucher Disease, Perinatal Lethal |
|
Retrognathia, Anemia, Micrognathia, Arthrogryposis multiplex congenita, Hepatosplenomegaly, Short... |
OMIM:608013 |
| Wolcott-Rallison Syndrome |
|
Central hypothyroidism, Hypothyroidism, Neonatal insulin-dependent diabetes mellitus, Abnormality... |
ORPHA:1667 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Prominent nose, Wide nasal bridge, Short nose, Intestinal malrotation, Overlapping toe, Depressed... |
OMIM:618316 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Hand-Foot-Genital Syndrome |
|
Pseudoepiphyses, Short 5th finger, Shortening of all middle phalanges of the fingers, Short hallu... |
OMIM:140000 |
| Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Prominent nose, Hematuria, Elevated circulating creatine k... |
OMIM:185070 |
| Otodental Syndrome |
|
Abnormal molar morphology, Periodontitis, Delayed eruption of teeth, Pulp calcification, Taurodon... |
ORPHA:2791 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Decreased proportion of CD4-positive T cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, In... |
OMIM:618534 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Congenital thrombocytopenia, Short middle phalanx of the 4th finger, Radioulnar synostosi... |
OMIM:616738 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Microretrognathia, Short nose |
ORPHA:1389 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hypohidrosis, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:615704 |
| X-Linked Intellectual Disability, Porteous Type |
|
Hypoplasia of the maxilla, Bulbous nose, Mandibular prognathia |
ORPHA:93945 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
| Atelosteogenesis, Type I |
|
Micrognathia, Distal tapering femur, Short femur, Elbow dislocation, Cleft palate, Knee dislocati... |
OMIM:108720 |
| Cebalid Syndrome |
|
High palate, Depressed nasal ridge, Short nose, Congenital diaphragmatic hernia, Depressed nasal ... |
OMIM:618774 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Osteomyelitis, Coxa vara, Calvarial osteosclerosis, Hypocalcemia, Pancytopenia, Flared me... |
OMIM:259700 |
| Zygomycosis |
|
Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Splenic abscess, Endocarditis, Enteroco... |
ORPHA:73263 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Coxa vara, Wide nasal bridge, Short femoral neck, Velopharyngeal insufficienc... |
OMIM:614701 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Diabetes ... |
OMIM:616026 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Hyperplasia of the maxilla |
OMIM:618587 |
| Simpson-Golabi-Behmel Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Toe syndactyly, Postaxial hand polydactyly, Abnormal ... |
ORPHA:373 |
| Fructose Intolerance, Hereditary |
|
Cirrhosis, Hyperuricemia, Glycosuria, Hypophosphatemia, Hyperbilirubinemia, Elevated hepatic tran... |
OMIM:229600 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Limited elbow extension, Scapular winging, Cleft palate, Vertebral fusion, Capitate-hamate fusion... |
OMIM:272460 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Underdeveloped nasal alae, High palate, Delayed eruption of teeth, Renal malrotation, Clinodactyl... |
OMIM:615866 |
| Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H... |
OMIM:277900 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Anemia, High palate, Ketonuria, Syndactyly, Depressed nasal bridge, Thrombocytopen... |
OMIM:614520 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Distal arthrogryposis, High palate, Coxa valga, Micrognathia, Hip dysplasia, Acetabular dysplasia... |
OMIM:619833 |
| Cleft Velum |
|
Aspiration pneumonia, Cleft soft palate, Velopharyngeal insufficiency, Recurrent otitis media, Hy... |
ORPHA:99772 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc... |
OMIM:274000 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Thickened cortex of long bones, Postaxial hand polydactyly, Short sternum, Short 1st metacarpal, ... |
OMIM:269150 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Micrognathia, Slender toe, Clinodactyly, Down-sloping shoulders, Short nose, Anteverte... |
ORPHA:391408 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Leukopenia, Methylmalonic aciduria, Cerebellar hemorrhage, Hypergly... |
OMIM:251000 |
| Duplication Of Urethra |
|
Penile hypospadias, Bifid scrotum, Urethral stricture, Epispadias, Hypospadias, Micropenis, Septa... |
ORPHA:237 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Scaling skin, Hepatosplenomegaly |
OMIM:606367 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Retrognathia, Underdeveloped nasal alae, Wide nasal bridge, Cutaneous finger syndactyly, Microgna... |
OMIM:613026 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
High palate, Wide anterior fontanel, Short nose, Congenital hip dislocation, Anteverted nares, Ca... |
OMIM:219200 |
| Diamond-Blackfan Anemia 11 |
|
Anemia, Absent thumb, Neutropenia, Hypoplasia of the radius, Renal agenesis, Radioulnar synostosi... |
OMIM:614900 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Diffuse hepatic steatosis, Left ventricular hypertrophy, Chronic hepati... |
ORPHA:746 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Hyperalaninemia, Weight loss, Cachexia, Elevated hepatic transaminase, Macrovesicular ... |
ORPHA:298 |
| Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatic failure, Reduced natural killer cell activity, Decreased circulating antibody level, Fulm... |
OMIM:308240 |
| 3-Methylglutaconic Aciduria, Type V |
|
Failure to thrive, Elevated circulating alanine aminotransferase concentration, Microvesicular he... |
OMIM:610198 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose |
OMIM:618218 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Acute tubulointerstitial nephritis, Shock, Glomerulonephritis, Palpitations, Oliguri... |
ORPHA:340 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hypermethioninemia, Hyperhomocystinemia, Hepatic steatosis, Failure to thrive, Pancreatitis |
OMIM:236200 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Increased size of nasopharyngeal adenoids, Persistence of hemoglobin F, Recurrent pneumonia, Recu... |
OMIM:619769 |
| Achondrogenesis |
|
Micrognathia, Anteverted nares, Short nose |
ORPHA:932 |
| Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Coxa valga, Micrognathia, Osteochondritis dissecans, Camptodactyly, Elbow di... |
OMIM:224690 |
| Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Decreased LDL cholesterol concentration, Hyperlipoproteinem... |
OMIM:615947 |
| Hypoplasminogenemia |
|
Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Dental malocclusion, Abnormality of the knee, Convex nasal ridge, High palate, Small h... |
ORPHA:251028 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Vesicoureteral reflux, Clinodactyly of the 5th finger, Short nose, Depressed nasal bridge, Bulbou... |
OMIM:618828 |
| Renal And Mullerian Duct Hypoplasia |
|
Anteriorly displaced urethral meatus, Micrognathia, Short nose, Horseshoe kidney, Renal hypoplasia |
OMIM:266810 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Short nose |
OMIM:125700 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated transferrin sat... |
ORPHA:465508 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Oligoarthritis, Anemia, Flexion contracture, Synovial hypertrophy, Hip osteoarthritis, Enthesitis... |
ORPHA:85408 |
| Microsporidiosis |
|
Prostatitis, Myositis, Decreased proportion of CD4-positive helper T cells, Pneumonia, Lymphadeni... |
ORPHA:2552 |
| Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Malar flatte... |
OMIM:241310 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Vesicoureteral reflux, Wide nasal bridge, Microphallus, Microgna... |
OMIM:618454 |
| Proteus Syndrome |
|
Epidermal acanthosis, Splenomegaly |
OMIM:176920 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Wide nasal bridge, Shortening of all distal phalanges of the fingers, Short nose, Broad nasal tip... |
OMIM:615716 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancytopenia, Abnormality of neutr... |
ORPHA:2585 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Anal atresia, Short nose, Abnormal soft palate morphology, Anteverted ... |
ORPHA:884 |
| Macrocephaly/Autism Syndrome |
|
High palate, Lymphopenia, Short nose, Penile freckling, Recurrent otitis media, Depressed nasal b... |
OMIM:605309 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short tibia, Flexion contracture, Coxa valga, Wide nasal bridge, Micrognathia, Epiphyseal stippli... |
ORPHA:96334 |
| Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Proximal tubulopathy, Abnormality of iron homeostasis, Increased... |
ORPHA:231222 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Stage 5 chronic kidney disease, Hypermagnesemia, Increased ... |
ORPHA:94059 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Hepatic steatosis, Elevated circulating creatine kinase concentration |
ORPHA:52430 |
| Trisomy 8P |
|
Multiple joint contractures, Bifid uvula, Clinodactyly of the 5th toe, Overlapping toe, Cleft pal... |
ORPHA:264450 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Clinodactyly of the 5th finger, Microretrognathia, Short nose, Hyp... |
ORPHA:1786 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
2-3 toe syndactyly, Vertebral fusion, Narrow palate, Exaggerated median tongue furrow, Hyperplasi... |
ORPHA:313892 |
| Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatic cysts, Hepatomegaly |
OMIM:617004 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
| Degcags Syndrome |
|
Polydactyly, Abnormal renal cortex morphology, Toe syndactyly, Micrognathia, Hepatosplenomegaly, ... |
OMIM:619488 |
| Elsahy-Waters Syndrome |
|
Abnormality of the anus, Wide nasal bridge, Delayed eruption of teeth, Bifid uvula, Agenesis of i... |
OMIM:211380 |
| Greenberg Dysplasia |
|
Short phalanx of finger, Micrognathia, Tetraphocomelia, Epiphyseal stippling, Hepatosplenomegaly,... |
OMIM:215140 |
| Hurler-Scheie Syndrome |
|
Abnormality of the tonsils, Abnormal nerve conduction velocity, Splenomegaly, Hepatomegaly |
ORPHA:93476 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Wide nose, Bifid ribs, Vertebral fusion, High palate, Wide nasal bridge, Hyperextensibility of th... |
OMIM:213980 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino... |
OMIM:614924 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Retrognathia, Mandibular prognathia, Prominent nose, Depressed nasal ridge, Short foot, Micrognat... |
OMIM:156200 |
| Desmosterolosis |
|
Retrognathia, Renal hypoplasia/aplasia, Micrognathia, Bifid uvula, Submucous cleft hard palate, R... |
ORPHA:35107 |
| Lumbar Syndrome |
|
Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc... |
ORPHA:83628 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Cirrhosis, Hepatic fibrosis, Hepatic failure, Hyperinsulinemic hypoglycemia, Failure to thrive, H... |
OMIM:602579 |
| Cornelia De Lange Syndrome 1 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Micrognathia, Elbow flexion contracture, Dislocate... |
OMIM:122470 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Microvesicular hepatic steatosis, Weight loss, Hypokalemia, Portal fibrosis, Fa... |
OMIM:619377 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Limb hypertonia, Clinodactyly, Short nose, Syndactyly |
OMIM:618087 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Increased red blood cell mass, Cerebral hemorrhage,... |
OMIM:263400 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Pulmonary arterial hypertension, Sandal gap, Short nose |
OMIM:300887 |
| Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Retrognathia, Mandibular aplasia, Aplastic clavicle, Patellar aplasia, C... |
ORPHA:2554 |
| Dyskeratosis Congenita |
|
Anemia, Periodontitis, Malabsorption, Displacement of the urethral meatus, Taurodontia, Esophagea... |
ORPHA:1775 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Ventricular septal defect, Abnormal mitral valve morphology, Levotransposition of the great arter... |
ORPHA:860 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
| Pfeiffer Syndrome Type 2 |
|
Hallux varus, High palate, Finger syndactyly, Small hand, Toe syndactyly, Anal atresia, Short nos... |
ORPHA:93259 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Genu varum, Genu valgum, Mandibular prognathia, Metaphyseal irregularity, Coxa vara, Flat capital... |
OMIM:271510 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Hypospadias, Macrocytic anemia |
OMIM:612528 |
| X-Linked Agammaglobulinemia |
|
Conjunctivitis, Anemia, Osteomyelitis, Malabsorption, Arthritis, Skin rash, Hepatitis, Hypocalcem... |
ORPHA:47 |
| Bacterial Toxic-Shock Syndrome |
|
Scaling skin, Myocarditis, Ecchymosis |
ORPHA:36234 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Scaling skin, Left ventricular hypertrophy, Erythema |
ORPHA:294023 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Bacterial endocarditis, Pulmonic valve myxoma |
ORPHA:615 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Short phalanx of finger, Wide nasal bridge, Renal dysplasia, Micrognathia, Bifid uvula, Hepatospl... |
OMIM:266920 |
| Alg9-Cdg |
|
Delayed cranial suture closure, Convex nasal ridge, Hypoplasia of the bladder, Micrognathia, Bifi... |
ORPHA:79328 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Volvulus, Micrognathia, Short nose, Depressed nasal bridge, Ankle flexion contracture |
OMIM:617802 |
| Diamond-Blackfan Anemia 12 |
|
Triphalangeal thumb, Reticulocytopenia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
| Immunodeficiency 40 |
|
Elevated circulating alanine aminotransferase concentration, Reduced antigen-specific T cell prol... |
OMIM:616433 |
| Immunodeficiency 27A |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leukocytosis, Histiocytosis, Enlarge... |
OMIM:209950 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Mandibular prognathia, Tapered finger, Wide nasal bridge, Aganglionic megacolon, Delay... |
OMIM:239300 |
| Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
| Fanconi Anemia, Complementation Group A |
|
Anemia, Absent thumb, Complete duplication of thumb phalanx, Reticulocytopenia, Short thumb, Rena... |
OMIM:227650 |
| Denys-Drash Syndrome |
|
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, fema... |
OMIM:194080 |
| Marshall-Smith Syndrome |
|
Retrognathia, Craniosynostosis, Slender long bone, Short nose, Protruding tongue, Anteverted nare... |
ORPHA:561 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Absent thumb, Complete duplication of thumb phalanx, Reticulocytopenia, Short thumb, Rena... |
OMIM:600901 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Retrognathia, Hypoplasia of penis, Short nose, Depressed nasal bridge, Sandal gap, Hypoplasia of ... |
ORPHA:1812 |
| 20Q11.2 Microduplication Syndrome |
|
Retrognathia, Short foot, Wide nasal bridge, Abnormal nasal bridge morphology, Clinodactyly of th... |
ORPHA:363659 |
| Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Hypoplasia of the radius, Micrognathia, Slender long bone, Short nose, Hypoplasia of the ulna, Pr... |
OMIM:602613 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Hypoglycemia, Microvesicular hepatic steatosis, Elevated hepatic transaminase |
OMIM:611126 |
| Budd-Chiari Syndrome |
|
Cirrhosis, Weight loss, Jaundice, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por... |
ORPHA:131 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Portal artery hyperplasia, Ascites, Portal vein hypoplasia, Hepatomegaly |
OMIM:619433 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic fibrosis, Hepatic failure, Impaired glucose tolerance, Glucose intolerance, Cholestasis, ... |
OMIM:615630 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Scaling skin |
ORPHA:35173 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Clinodactyly of the 5th finger, Microretrognathia, Hypoplasia of the maxilla, Anteverted nares, T... |
ORPHA:228396 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Dental malocclusion, Vesicoureteral reflux, Bifid tongue, Wide nasal bri... |
OMIM:616894 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatic failure, Cirrhosis, Abnormal muscle glycogen content, Elevated hepatic transaminase, Hepa... |
ORPHA:367 |
| Kleefstra Syndrome |
|
Vesicoureteral reflux, Mandibular prognathia, Delayed eruption of teeth, Advanced eruption of tee... |
ORPHA:261494 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Depressed nasal ridge, Short nose,... |
OMIM:300863 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Hypothyroidism, Elevated hepatic transaminase, Neonatal hypoglycemia, Hepatic steatosis, Bone mar... |
ORPHA:445038 |
| Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus |
|
Hyperplasia of the maxilla |
OMIM:613671 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge, Short nose |
ORPHA:2835 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal lymph node morphology, Anemia, Hepatosplenomegaly, Leukocytosis, Extramedullary hematopo... |
OMIM:612840 |
| Down Syndrome |
|
Narrow palate, Depressed nasal ridge, Acute megakaryocytic leukemia, Aganglionic megacolon, Renal... |
ORPHA:870 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Failure to thrive, Hypoglycemia, Hepatomegaly, Cholestatic liver disease |
ORPHA:5 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Wide nasal bridge, Hypoplasia of the maxilla, Hypospadias, Anal stenosis |
OMIM:601499 |
| Distal Trisomy 5Q |
|
Absent thumb, Hypoplasia of the radius, Micrognathia, Craniosynostosis, Eczema, Short nose, Hypop... |
ORPHA:96097 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
2-3 toe syndactyly, Eruption failure, Aplasia of the 1st metacarpal, High palate, Tapered finger,... |
ORPHA:476126 |
| Wolman Disease |
|
Hepatic failure, Adrenal insufficiency, Cachexia, Hepatomegaly, Ascites, Splenomegaly |
ORPHA:75233 |
| Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, E... |
ORPHA:59315 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Mandibular prognathia, Short nose |
OMIM:300143 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... |
ORPHA:786 |
| Peho Syndrome |
|
Retrognathia, Tapered finger, Short nose |
OMIM:260565 |
| Dental Anomalies And Short Stature |
|
Hypoplasia of the maxilla, Amelogenesis imperfecta, Mandibular prognathia |
OMIM:601216 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Underdeveloped nasal alae, Genu valgum, Flexion contracture, Mandibular prognathia, Tapered finge... |
OMIM:616007 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly, Optic atrophy |
OMIM:614702 |
| Graft Versus Host Disease |
|
Scaling skin, Hepatosplenomegaly |
ORPHA:39812 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Polycystic kidney dysplasia, Bicornuate uterus |
OMIM:263210 |
| Felty Syndrome |
|
Anemia, Rhinitis, Abnormal joint morphology, Recurrent urinary tract infections, Arthritis, Synov... |
ORPHA:47612 |
| Acrocallosal Syndrome |
|
Tapered finger, Wide nasal bridge, Toe syndactyly, Bifid uvula, Duplication of phalanx of hallux,... |
OMIM:200990 |
| Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Polydactyly, Flexion contracture, Convex nasal ridge, Patellar di... |
OMIM:180849 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, High palate, Aspiration pneumonia, Micrognathia, Short nose, Recurrent pneumonia, De... |
ORPHA:314655 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Anemia, Cerebral hemorrhage, Acute kidney injury, Hypertension, Increased circulat... |
OMIM:618886 |
| Micro Syndrome |
|
High palate, Wide nasal bridge, Micrognathia, Hypoplasia of penis, Short nose, Abnormal localizat... |
ORPHA:2510 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Dental malocclusion, Vertebral fusion, High palate, Narrow palate, Pollakisuria, Camptodactyly, C... |
OMIM:227330 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Underdeveloped nasal alae, Multicystic kidney dysplasia, Clinodactyly of the 5th finger, Short no... |
ORPHA:2031 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Macroglossia, Short nose, Depressed nasal bridge, Prominent metopic ridge,... |
ORPHA:261144 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Psoriasiform lesion, Hepatosplenomegaly |
ORPHA:169154 |
| Congenital Factor Ii Deficiency |
|
Anemia, Microscopic hematuria, Intracranial hemorrhage, Epistaxis, Intramuscular hematoma, Joint ... |
ORPHA:325 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Anemia, Hyperuricemia, Skeletal muscle atrophy |
ORPHA:371 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Hepatic steatosis, Hyperlipidemia, Prim... |
ORPHA:189427 |
| Crouzon Syndrome |
|
Conjunctivitis, Sagittal craniosynostosis, Mandibular prognathia, High palate, Coronal craniosyno... |
OMIM:123500 |
| Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Adrenal insufficiency, Failure to thrive, Hepatomegaly, Splen... |
OMIM:609981 |
| Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... |
OMIM:601859 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Coxa valga, Hip dislocation, Hypoplasia of the maxilla, Absent extraocular muscles, Malar flattening |
OMIM:109120 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Genu valgum, Metaphyseal sclerosis, Prominent nose, Abnormal ethmoid bone morphology, Abnormal ma... |
ORPHA:2976 |
| Fetal Gaucher Disease |
|
Pancytopenia, Abnormality of the spleen, Stillbirth, Hepatomegaly, Thrombocytopenia, Neonatal dea... |
ORPHA:85212 |
| Myopathy With Lactic Acidosis, Hereditary |
|
Increased variability in muscle fiber diameter, Leukopenia, Anemia, Rhabdomyolysis, Sideroblastic... |
OMIM:255125 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Enamel hypoplasia, Anemia, Esophageal stricture, Abnormality of the urinary system, Urethral stri... |
ORPHA:79409 |
| Achondrogenesis, Type Ia |
|
Short ribs, Bowing of the arm, Hypoplasia of the radius, Abnormal femoral metaphysis morphology, ... |
OMIM:200600 |
| Tempi Syndrome |
|
Telangiectasia, Increased hematocrit, Abnormality of the kidney, Intracranial hemorrhage, Polycyt... |
ORPHA:284227 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal P wave, Howell-Jolly bodies, Abnormal EKG, Renal interstiti... |
ORPHA:85443 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Delayed closure of the anterior fontanelle, Decreased muscle mass, High palate, Prominent nasolab... |
ORPHA:357074 |
| Opsismodysplasia |
|
Tapered finger, Hypoplastic pubic bone, Short nose, Hypoplastic ischia, Depressed nasal bridge, B... |
ORPHA:2746 |
| Alport Syndrome 2, Autosomal Recessive |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem... |
OMIM:203780 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Sagittal craniosynostosis, Enuresis, Small hand, Micrognathia, Abno... |
ORPHA:459061 |
| Fish-Eye Disease |
|
Lymphadenopathy, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Short nose, Abnormal thumb morphology, Depressed nasal bridge, Ureteral stenosis, Antever... |
ORPHA:2719 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Villous atrophy, Hepatitis, Coombs-positive hemolytic anemia, Arthritis, Eczema, Autoimmu... |
OMIM:304790 |
| Cardiofaciocutaneous Syndrome 1 |
|
Dental malocclusion, Atopic dermatitis, High palate, Hyperextensibility of the finger joints, Mic... |
OMIM:115150 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Vesicoureteral reflux, Left unicoronal synostosis, Wide nasal bridge, Aganglionic megacolon, Shor... |
OMIM:614749 |
| Weismann-Netter Syndrome |
|
Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A... |
ORPHA:3344 |
| Miller-Dieker Lissencephaly Syndrome |
|
Polydactyly, Joint contracture of the hand, Delayed eruption of teeth, Wide nasal bridge, Microgn... |
OMIM:247200 |
| Goodpasture Syndrome |
|
Glomerular crescent formation, Anemia, Pulmonary hemorrhage, Glomerulonephritis, Erythrocyte cyli... |
OMIM:233450 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Flexion contracture, Micrognathia, Cleft palate, Arthrogry... |
OMIM:263650 |
| Scalp-Ear-Nipple Syndrome |
|
2-3 toe syndactyly, Supraventricular tachycardia, Mandibular prognathia, Finger syndactyly, Bifid... |
OMIM:181270 |
| Cardioacrofacial Dysplasia 1 |
|
Hypoplasia of the maxilla, Overhanging nasal tip, Genu valgum, Postaxial polydactyly |
OMIM:619142 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Crusting erythematous dermatitis, Eczema, Abnormal blood ion concentr... |
ORPHA:37042 |
| Dubowitz Syndrome |
|
Delayed cranial suture closure, Delayed eruption of teeth, Toe syndactyly, Micrognathia, Acute ly... |
ORPHA:235 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Short nose, Skeletal muscle atrophy, Anteverted nares, Arachnodactyly, Malar flattening, Bulbous ... |
OMIM:616420 |
| Deeah Syndrome |
|
Retrognathia, High palate, Narrow palate, Malabsorption, Prominent nasal tip, Short nose, Decreas... |
OMIM:619004 |
| Opsismodysplasia |
|
Short phalanx of finger, Renal phosphate wasting, Metaphyseal cupping, Anterior rib cupping, Shor... |
OMIM:258480 |
| Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
| Saethre-Chotzen Syndrome |
|
Triphalangeal thumb, Delayed cranial suture closure, Convex nasal ridge, Narrow palate, Hallux va... |
ORPHA:794 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Elevated hepatic transaminase, H... |
ORPHA:189439 |
| Infantile Digital Fibromatosis |
|
Epidermal acanthosis |
ORPHA:199267 |
| Jacobsen Syndrome |
|
Flexion contracture, Micrognathia, Pyloric stenosis, Missing ribs, Clinodactyly of the 5th finger... |
OMIM:147791 |
| Immunodeficiency 32B |
|
Abnormal circulating IgG level, Failure to thrive, Hepatomegaly, Impaired oxidative burst, Spleno... |
OMIM:226990 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatic steatosis, Decreased liver function, Hepatomegaly |
OMIM:614922 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Anemia, Wide nasal bridge, Hip dysplasia, Oroticaciduria, Abnormality of the urete... |
ORPHA:30 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Esophageal atresia, Micrognathia, Short nose, Proximal placement of th... |
OMIM:610536 |
| Cartilage-Hair Hypoplasia |
|
Convex nasal ridge, Wide nasal bridge, Abnormal distal phalanx morphology of finger, Heart block,... |
ORPHA:175 |
| Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Anemia, Reticulocytopenia, Pancytopenia, Epistaxis, Thrombocytopenia, Neutrop... |
ORPHA:88 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis |
ORPHA:2199 |
| Mietens Syndrome |
|
Wide nose, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Wide nasal bridge, Co... |
ORPHA:2557 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hypothyroidism, Hepatic fibrosis, Hepatic steatosis, Diabetes mellitus, Failure to thrive, Pancre... |
OMIM:616263 |
| Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
|
Stage 5 chronic kidney disease, Glomerular basement membrane disruption, Thickened glomerular bas... |
OMIM:609057 |
| Zttk Syndrome |
|
Flexion contracture, High palate, Small hand, Wide nasal bridge, Craniosynostosis, Bifid uvula, S... |
OMIM:617140 |
| Icf Syndrome |
|
Anemia, Malabsorption, Micrognathia, Macroglossia, Lymphopenia, Abnormality of neutrophils, Depre... |
ORPHA:2268 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... |
OMIM:619375 |
| D-Bifunctional Protein Deficiency |
|
Very long chain fatty acid accumulation, Increased circulating very long-chain fatty acid concent... |
OMIM:261515 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Underdeveloped nasal alae, Urinary incontinence, Mandibular prognathia, Short digit, Clinodactyly... |
OMIM:300912 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Hyperphosphatemia, Wide nasal bridge, Short nose, Broad nasal tip, Cleft palate |
OMIM:614207 |
| Shprintzen-Goldberg Syndrome |
|
Camptodactyly of finger, Retrognathia, Aplasia/Hypoplasia of the abdominal wall musculature, Genu... |
ORPHA:2462 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Dental malocclusion, Contractures of the large joints, High palate, Micrognathia, Short nose, Ele... |
ORPHA:329178 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Flexion contracture, Absent thumb, Complete duplication of thumb phalanx, Reticulocytopen... |
OMIM:227645 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the frontal bone, Wide nasal br... |
ORPHA:306542 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Glycosuria, Jaundice, Elevated hepatic transaminase, Failure to thrive, Giant cell hepatitis, Hep... |
OMIM:613404 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Trisomy 20P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Ectopic anus, Micrognathia... |
ORPHA:261318 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Eosinophilic Gastroenteritis |
|
Anemia, Allergic rhinitis, Malabsorption, Steatorrhea, Elevated circulating C-reactive protein co... |
ORPHA:2070 |
| Dyschondrosteosis And Nephritis |
|
Short tibia, Short forearm, Radial bowing, Ulnar bowing, Nephritis, Madelung deformity |
OMIM:127350 |
| Bainbridge-Ropers Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Choanal stenosis, High palate, Wide nasal bridge, Microg... |
OMIM:615485 |
| Xanthinuria, Type I |
|
Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Myopathy, Xanthinuria, Hydronephrosis |
OMIM:278300 |
| Rat-Bite Fever |
|
Pericarditis, Scaling skin, Endocarditis, Myocarditis |
ORPHA:31205 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hypothyroidism, Failure to thrive, Decreased circulating T4 concentration, Hepatomegaly, Cholesta... |
OMIM:608104 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Anemia, Hypercalcemia, Proteinuria, Renal insufficiency |
ORPHA:2668 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hyperuricemia, Weight loss, Nonketotic hypoglycemia, Jaundice, Elevated hepatic transaminase, Acu... |
ORPHA:20 |
| Gapo Syndrome |
|
Delayed cranial suture closure, Eruption failure, Delayed closure of the anterior fontanelle, Wid... |
OMIM:230740 |
| Leishmaniasis |
|
Weight loss, Increased circulating antibody level, Elevated hepatic transaminase, Hepatomegaly, S... |
ORPHA:507 |
| Timothy Syndrome |
|
Patent foramen ovale, Cardiomegaly, Tetralogy of Fallot, Ventricular septal defect |
OMIM:601005 |
| Isolated Sedoheptulokinase Deficiency |
|
Anemia, Flexion contracture, Diastasis recti, Hepatitis, Hip dysplasia, Abnormal renal tubule mor... |
ORPHA:440713 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, Aplasia ... |
ORPHA:364577 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Tarp Syndrome |
|
Short sternum, Postaxial polydactyly, Finger syndactyly, Wide nasal bridge, Tongue nodules, Abnor... |
ORPHA:2886 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypothyroidism, Hepatic fibrosis, Decreased circulating IgG level, Elevated hepatic transaminase,... |
OMIM:212065 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Micrognathia, Camptodactyly, Overlapping toe, Abnormality of the urete... |
ORPHA:798 |
| 19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Hypothyroidism, Obesity, Hyperlipidemia |
ORPHA:254346 |
| Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... |
OMIM:137920 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... |
ORPHA:521 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Anemia, Decreased level of coenzyme Q10 in skeletal muscle, Nephrotic syndrome, Pancytopenia, Glo... |
OMIM:607426 |
| Hypomandibular Faciocranial Dysostosis |
|
Choanal stenosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Short nose, Maxillozygomatic hyp... |
ORPHA:1790 |
| Trisomy 10P |
|
Retrognathia, Short toe, Contracture of thumb, Decreased muscle mass, High palate, Micrognathia, ... |
ORPHA:171929 |
| Hand-Foot-Genital Syndrome |
|
Abnormality of the uterus, Hypospadias, Abnormality of the urethra, Bicornuate uterus |
ORPHA:2438 |
| Fetal Valproate Spectrum Disorder |
|
Depressed nasal ridge, Short nose |
ORPHA:1906 |
| Thymoma |
|
Leukemia, Rheumatoid arthritis, Ulcerative colitis, Myositis, Glomerulonephritis, Imbalanced hemo... |
ORPHA:99867 |
| Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, High palate, Short foot, Finger syndactyly, Toe syndactyly, Shor... |
ORPHA:93258 |
| Stickler Syndrome |
|
Micrognathia, Hip dislocation, Cleft palate, Glossoptosis, Abnormal dental enamel morphology, Pro... |
ORPHA:828 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Wide nose, Telangiectasia, Narrow palate, Abnormal large intestine morphology, Micrognathia, Angi... |
ORPHA:109 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Wide nasal bridge, Renal dysplasia, Microretrognathia, Short nose, Overlapping toe, Cleft palate,... |
OMIM:618571 |
| Trichohepatoenteric Syndrome 2 |
|
Cirrhosis, Small for gestational age, Decreased serum iron, Failure to thrive, Hepatomegaly, Chro... |
OMIM:614602 |
| Congenital Toxoplasmosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:858 |
| Autosomal Recessive Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... |
ORPHA:1507 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Jaundice, Failure to thrive, Hepatomegaly, Exocrine pancreatic insufficiency, Splenomegaly |
OMIM:612714 |
| Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing... |
ORPHA:2879 |
| Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Glomerulopathy, Hypoplasia of the thymus, Eczema, Hematemesis, Thrombocytop... |
ORPHA:906 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Epiphyseal stippling, Short nose, Depressed nasal bridge, Anosmia, Short distal phalanx of finger... |
OMIM:302950 |
| Renal Hypoplasia, Bilateral |
|
Vesicoureteral reflux, Anemia, Beta 2-microglobulinuria, Glycosuria, Hyperkalemia, Chronic kidney... |
ORPHA:97362 |
| Trisomy 18 |
|
Camptodactyly of finger, Deviation of finger, Hydronephrosis, Narrow palate, Esophageal atresia, ... |
ORPHA:3380 |
| Basan Syndrome |
|
Epidermal acanthosis |
OMIM:129200 |
| Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Ascites, Aplas... |
OMIM:615122 |
| Infantile Sialic Acid Storage Disease |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:269920 |
| Immunodeficiency 58 |
|
Scaling skin, Psoriasiform lesion |
OMIM:618131 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomegaly, Abnormal m... |
ORPHA:98848 |
| Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Bacterial endocarditis, Ventricular septal defect, Abnormal cardia... |
ORPHA:3092 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s... |
ORPHA:300298 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tapered finger, Recurrent aspiration pneumonia, Elevated circulating alpha-fetoprotein concentrat... |
ORPHA:280633 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Anemia, Malabsorption, Clubbing of fingers, Clubbing, Abnormal intestine morp... |
OMIM:226300 |
| Fanconi Anemia, Complementation Group D2 |
|
Aplasia of the 1st metacarpal, Absent thumb, Thrombocytopenia, Esophageal atresia, Partial duplic... |
OMIM:227646 |
| Klatskin Tumor |
|
Extrahepatic cholestasis, Weight loss, Jaundice, Cholangiocarcinoma, Hepatomegaly |
ORPHA:99978 |
| Classic Hodgkin Lymphoma |
|
Hyperhidrosis, Weight loss, Bone marrow hypocellularity, Hepatomegaly, Splenomegaly |
ORPHA:391 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Underdeveloped nasal alae, 2-3 toe syndactyly, Overhanging nasal tip, Anemia, Short 5th finger, B... |
ORPHA:163979 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Tubulointerstitial nephritis, Sagittal craniosynostosis, Natal tooth, Micrognathia, Hematuria, De... |
OMIM:616901 |
| Elliptocytosis 1 |
|
Splenomegaly, Elliptocytosis, Jaundice, Hemolytic anemia |
OMIM:611804 |
| Igg4-Related Pachymeningitis |
|
Lymphadenitis, Lower limb muscle weakness, Nephritis, Sinusitis, Parotitis, Eosinophilia, Elevate... |
ORPHA:449427 |
| Meier-Gorlin Syndrome 3 |
|
Genu varum, Patellar hypoplasia, Coxa vara, Patellar aplasia, Short ribs, Micrognathia, Slender l... |
OMIM:613803 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Delayed cranial suture closure, Micrognathia, Arachnodactyly, Short nose |
ORPHA:1129 |
| Diamond-Blackfan Anemia 21 |
|
Short toe, Anemia, Genu valgum, Tapered finger, Hallux valgus, Preaxial hand polydactyly, Microgn... |
OMIM:620072 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Polycystic kidney dysplasia, Vaginal atresia, Parathyroid hypoplasia, Aplasia of the uterus, Diab... |
ORPHA:2237 |
| Monosomy 13Q34 |
|
Hepatic steatosis, Obesity, Insulin resistance, Hypercalcemia |
ORPHA:96168 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Multiple joint contractures, Hallux valgus, Patellar dislocation, Micrognath... |
ORPHA:536471 |
| Plasminogen Deficiency, Type I |
|
Conjunctivitis, Duodenal ulcer, Periodontitis, Nephritis, Recurrent upper respiratory tract infec... |
OMIM:217090 |
| Dend Syndrome |
|
Short nose, Clinodactyly of the 4th finger, Elevated hemoglobin A1c, Anteverted nares, Prominent ... |
ORPHA:79134 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Wide nasal bridge, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Ce... |
OMIM:312870 |
| Frontorhiny |
|
Camptodactyly of finger, Bifid tongue, Midline nasal groove, Hypoplastic frontal sinuses, Hypopla... |
ORPHA:391474 |
| Arterial Tortuosity Syndrome |
|
Coxa valga, Cardiac arrest, Hip dislocation, Hypertrophic cardiomyopathy, Abnormal zygomatic bone... |
ORPHA:3342 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Pearson Marrow-Pancreas Syndrome |
|
Anemia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Reticulocytopenia, Villous atrophy, Ma... |
OMIM:557000 |
| Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Hypoamylasemia, Delayed eruption of teeth, Impaired neutrophil chemotaxis... |
ORPHA:811 |
| Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Leukopenia, Anemia, Periportal fibrosis, Hypersplenism... |
ORPHA:64743 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Short nose, Anteverted nares, Renal hypoplasia, Metopic synostosis, Hydron... |
OMIM:613735 |
| Dilated Cardiomyopathy With Ataxia |
|
Hypothyroidism, Microvesicular hepatic steatosis, Elevated hepatic transaminase, Neonatal hypogly... |
ORPHA:66634 |
| Robinow Syndrome |
|
Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Multicystic kidney dyspl... |
ORPHA:97360 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Cirrhosis, Decreased T cell activation, Hepatitis, Sclerosing cholangitis, Decrease... |
OMIM:308230 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... |
ORPHA:231154 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Skin ulcer, Atrial septal defect, Scaling skin, Dry skin |
ORPHA:2526 |
| Weill-Marchesani Syndrome 1 |
|
Broad phalanges of the hand, Narrow palate, Broad metatarsal, Hypoplasia of the maxilla, Depresse... |
OMIM:277600 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Increased circulating IgG level, Splenomegaly, Hepatomegaly |
OMIM:618495 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Toe syndactyly, Depressed nasal tip, Cleft palate, Ectrodactyly, Choanal atresia... |
OMIM:604292 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic aciduria, Anemia, Megaloblastic anemia, High palate, Cystathioninuria, Cystathionin... |
OMIM:277380 |
| Isolated Arrhinia |
|
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... |
ORPHA:1134 |
| Mulibrey Nanism |
|
Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis |
OMIM:253250 |
| Jacobsen Syndrome |
|
Abnormality of the anus, Ectopic anus, Wide nasal bridge, Toe syndactyly, Hip dislocation, Eczema... |
ORPHA:2308 |
| Blomstrand Lethal Chondrodysplasia |
|
Metaphyseal cupping, Aplastic clavicle, Natal tooth, Short ribs, Short metacarpal, Micrognathia, ... |
ORPHA:50945 |
| Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Delayed eruption of teeth, Metaphyseal striations, Cleft palate, Aplasti... |
ORPHA:221016 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Retrognathia, Leukopenia, Anemia, Prominent floating ribs, High palate, Prominence of the zygomat... |
ORPHA:2785 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Retrognathia, Flared lower limb metaphysis, Micrognathia, Acetabular dysplasia, Femoral bowing, H... |
OMIM:616462 |
| Weill-Marchesani Syndrome 2 |
|
Broad phalanges of the hand, High palate, Narrow palate, Short metacarpal, Elbow flexion contract... |
OMIM:608328 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cel... |
OMIM:602450 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Glycosuria, Diffuse hepatic steatosis, Failure to thrive, Hepatomegaly, Decreased liver function |
ORPHA:436271 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Cirrhosis, Increased total iron binding capacity, Unconjugated hyperbilirubine... |
OMIM:613280 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Absent thumb, Wide nasal bridge, Esophageal atresia, Micrognathia, Anal atresia, Absent r... |
OMIM:614083 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... |
OMIM:150550 |
| X-Linked Lymphoproliferative Disease |
|
T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Colitis, Aplastic anemia, Splenome... |
ORPHA:2442 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Delayed cranial suture closure, Vesicoureteral reflux, Abnormal cardiac ventricular function, Wid... |
ORPHA:90349 |
| Hardikar Syndrome |
|
Hypoplasia of the bladder, Cleft soft palate, Hepatosplenomegaly, Celiac disease, Hematemesis, Th... |
OMIM:301068 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Treacher-Collins Syndrome |
|
Retrognathia, Hypoplasia of the thymus, High palate, Wide nasal bridge, Micrognathia, Choanal atr... |
ORPHA:861 |
| Teebi Hypertelorism Syndrome 1 |
|
Sagittal craniosynostosis, Small hand, Wide nasal bridge, Natal tooth, Coronal craniosynostosis, ... |
OMIM:145420 |
| Floating-Harbor Syndrome |
|
Congenital posterior urethral valve, Dislocated radial head, Celiac disease, Enlarged joints, Ava... |
ORPHA:2044 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Hypothyroidism, Hyperuricemia, Abnormality of endocrine pancreas physiology, Aplasia/Hypoplasia o... |
ORPHA:93111 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... |
OMIM:613470 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Flexion contracture, Tapered finger, Finger joint hypermobility, Hip dysplasia, Short nose, Narro... |
ORPHA:544503 |
| Fetal Alcohol Syndrome |
|
Micrognathia, Short nose, Congenital diaphragmatic hernia, Anteverted nares, Cleft palate |
ORPHA:1915 |
| Histiocytoid Cardiomyopathy |
|
Renal cyst, Cardiomegaly, Polycystic ovaries, Hepatomegaly |
ORPHA:137675 |
| Femoral-Facial Syndrome |
|
Hypoplastic acetabulae, Humeroradial synostosis, Toe syndactyly, Micrognathia, Aplasia/hypoplasia... |
OMIM:134780 |
| Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
| Waardenburg Syndrome Type 1 |
|
Underdeveloped nasal alae, Mandibular prognathia, Wide nasal bridge, Aganglionic megacolon, Short... |
ORPHA:894 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Convex nasal ridge, Flexion contracture, Cleft soft palate, Azotemia, Short nose, In... |
OMIM:619321 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Urolithiasis, Uric acid nephrolithiasis, Convex nasal ridge, High palate, Hyperuricemia, Short no... |
OMIM:300661 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Long hallux, Tapered finger, Anteverted nares, Short nose |
OMIM:619854 |
| Nephronophthisis 1 |
|
Renal tubular atrophy, Hyposthenuria, Anemia, Stage 5 chronic kidney disease, Renal corticomedull... |
OMIM:256100 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hypoplasia, Short nose, Ove... |
OMIM:616723 |
| Craniolenticulosutural Dysplasia |
|
Wide nose, High palate, Delayed eruption of teeth, Prominent nasal bridge, Hypoplasia of the maxi... |
ORPHA:50814 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Wide anterior fontanel, Pyloric stenosis, Submucous cleft hard palate, Short nose, C... |
ORPHA:457279 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis |
OMIM:615022 |
| Distal Monosomy 9P |
|
Wide nasal bridge, Short nose, Hypospadias, Brachydactyly, Cleft palate, High, narrow palate |
ORPHA:1642 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Failure to thrive, Elevated circulating C-reactive protein concentration, Increased ... |
OMIM:617388 |
| Microform Holoprosencephaly |
|
Renal agenesis, Hypoplasia of penis, Short nose, EMG: myopathic abnormalities, Midnasal stenosis,... |
ORPHA:280200 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Hepatic failure, Decr... |
ORPHA:159 |
| Lysosomal Acid Lipase Deficiency |
|
Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Decreased liver function, We... |
ORPHA:275761 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Anemia, Anisopoikilocytosis, Short digit, Microretrognathia, Syndactyly, Depressed nasal bridge, ... |
OMIM:615789 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Convex nasal ridge, Short nose |
OMIM:200130 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Anemia, Delayed eruption of teeth, Renal dysplasia, Elliptocytosis, Micrognathia, Bifid uvula, Su... |
OMIM:300990 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia |
OMIM:612527 |
| Craniofacial-Deafness-Hand Syndrome |
|
Narrow naris, Short nose, Hypoplasia of the maxilla, Depressed nasal bridge, Malar flattening |
OMIM:122880 |
| Pauci-Immune Glomerulonephritis |
|
Nephrotic range proteinuria, Tubulointerstitial nephritis, Pulmonary hemorrhage, Scleritis, Small... |
ORPHA:93126 |
| Monosomy 9P |
|
High palate, Abnormality of the tarsal bones, Micrognathia, Short nose, Congenital diaphragmatic ... |
ORPHA:261112 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Microvesicular hepatic steatosis, Decreased liver function, Periportal fibrosis, Elevated hepatic... |
OMIM:124000 |
| Autosomal Dominant Robinow Syndrome |
|
Camptodactyly of finger, Bifid tongue, Coxa valga, Wide nasal bridge, Micrognathia, Hip dislocati... |
ORPHA:3107 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Splenomegaly, Hepatomegaly |
OMIM:618107 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Anemia, Mandibular prognathia, Narrow palate, Depressed nasal ridge, Wide nasal bridge, Recurrent... |
ORPHA:99843 |
| Chops Syndrome |
|
Vesicoureteral reflux, Cervical C2/C3 vertebral fusion, Aspiration pneumonia, Short nose, Horsesh... |
OMIM:616368 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Hallux valgus, Micrognathia, Dentinogenesis imperfecta, Slender long... |
ORPHA:536467 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Failure to thrive,... |
OMIM:267700 |
| Visceral Steatosis, Congenital |
|
Hepatic steatosis, Jaundice, Hypoglycemia, Hypocalcemia |
OMIM:228100 |
| Proteus Syndrome |
|
Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Enlarged polycystic ovaries, Long pen... |
ORPHA:744 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
| Hypohidrotic Ectodermal Dysplasia |
|
Nephrotic syndrome, Inflammatory abnormality of the eye, Keratoconjunctivitis sicca, Eczema, Hypo... |
ORPHA:238468 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:617914 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Toe syndactyly, Depressed nasal tip, Cleft palate, Choanal atresia, Vesicoureter... |
OMIM:129900 |
| Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... |
OMIM:615387 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anemia, Malabsorption, Hypokalemia, Hypocalcemia, Glossitis, Clubbing of fingers, Clubbing, Hemat... |
OMIM:175500 |
| Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Hyperammonemia, Microvesicular hepatic steatosis |
OMIM:616672 |
| Meckel Syndrome 12 |
|
Vaginal atresia, Hypoplasia of the uterus |
OMIM:616258 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Juvenile Polyposis Of Infancy |
|
Anemia, High, narrow palate, Intussusception, Clubbing of fingers, Hematochezia, Depressed nasal ... |
ORPHA:79076 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Splenomegaly, Psoriasiform lesion |
OMIM:614700 |
| Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Short nose, Dimple on nasal tip, Depressed nasal bridge, Bifid nasal tip, ... |
ORPHA:1791 |
| Duodenal Neuroendocrine Tumor |
|
Intestinal fistula, Hypotension, Increased hematocrit, Cardiogenic shock, Arrhythmia, Melena, Rig... |
ORPHA:100076 |
| 19P13.13 Microdeletion Syndrome |
|
High palate, Clinodactyly, Macroglossia, Short nose, Depressed nasal bridge, Sandal gap, Antevert... |
ORPHA:357001 |
| Cardiofaciocutaneous Syndrome |
|
Genu valgum, High palate, Submucous cleft hard palate, Short nose, Abnormal morphology of ulna, D... |
ORPHA:1340 |
| Thrombocytopenia 5 |
|
Epistaxis, Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
| Kaposiform Lymphangiomatosis |
|
Anemia, Abnormality of the ischium, Epidural hemorrhage, Enlarged kidney, Abnormal spleen morphol... |
ORPHA:464329 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis |
OMIM:133200 |
| Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Enlarged kidney, Hepatocellular carcinoma, Elevat... |
OMIM:276700 |
| Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Micrognathia, Bifid uvula, Postaxial hand polydactyly, Cleft palate, Cho... |
ORPHA:2753 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Esophageal stricture, Radial club hand, Aspiration pneumonia, Microphallus, R... |
OMIM:617053 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Rhabdomyolysis, M... |
ORPHA:228302 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Wide nasal bridge, Short nose, Recurrent pneumonia, Protruding tongue, Prominent nasal bridge, Hy... |
OMIM:619179 |
| Listeriosis |
|
Endocarditis, Septic arthritis, Myocarditis, Conjunctivitis, Osteomyelitis, Rhabdomyolysis, Hepat... |
ORPHA:533 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Knee flexion contracture, Hypoplasia of the nasal bone, Epiphyseal stippling, Hip contracture |
OMIM:118650 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra... |
OMIM:206100 |
| Coffin-Lowry Syndrome |
|
Wide nose, Dental malocclusion, Delayed closure of the anterior fontanelle, Mandibular prognathia... |
OMIM:303600 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly |
ORPHA:79477 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Short nose, Celiac disease, Depressed nasal bridge, Bulbous nose, Pulmonic stenosis, Choanal atresia |
ORPHA:284169 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Right bundle branch block, High palate, Slender long bone, Short nose, Depressed nasal bridge, Lo... |
OMIM:618590 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Flexion contracture, Facial telangiectasia, Micrognathia, Short nose |
OMIM:615851 |
| Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Cirrhosis, Slender build, Unconjugated hyperbilirubinemia, Small for gestational age, Elevated he... |
OMIM:613658 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Bladder exstrophy, Craniosynostosis, Bifid uvula, Submucous cleft hard pal... |
ORPHA:1299 |
| Cold Agglutinin Disease |
|
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly |
ORPHA:56425 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Micropenis, Endometriosis |
ORPHA:363444 |
| Acquired Methemoglobinemia |
|
Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia |
ORPHA:464453 |
| Prader-Willi Syndrome Due To Translocation |
|
Retrognathia, High palate, Prominent nose, Small hand, Micrognathia, Abnormality of the kidney, B... |
ORPHA:177907 |
| 3Q29 Microdeletion Syndrome |
|
Pulmonary arterial hypertension, High palate, Tapered finger, Clinodactyly of the 5th finger, Sho... |
ORPHA:65286 |
| 5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Anteverted nares, Short nose |
ORPHA:228384 |
| Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... |
ORPHA:158061 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Ventricular septal hypertrophy,... |
OMIM:115197 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Abnormal autonomic nervous sy... |
OMIM:105210 |
| Rare Cutaneous Lupus Erythematosus |
|
Scaling skin, Erythema, Psoriasiform lesion |
ORPHA:535 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy |
OMIM:619051 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Wide nose, Mandibular prognathia, Cleft ala nasi, Narrow nasal base, Hypoplasia of the maxilla, P... |
ORPHA:3044 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Camptodactyly, Overlapping toe, Radial deviation of finger, Skeletal muscle h... |
OMIM:139210 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Delayed cranial suture closure, Macroglossia, Short nose, Depressed nasal bridge, Concave nasal r... |
OMIM:613038 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Erythema |
OMIM:613943 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Narrow maxilla, Joint dislocation, Hyperextensibility of the finger joints, Recurrent sinusitis, ... |
OMIM:130000 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Vesicoureteral reflux, Hypoplasia of penis, Macroglossia, Short nose, Aortic regurgitation, Protr... |
ORPHA:96147 |
| Pterygium Colli, Isolated |
|
Short nose |
OMIM:177990 |
| Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hypercholesterolemia, Argin... |
ORPHA:470 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Delayed cranial suture closure, Recurrent skin infections, Cleft palate, Arthrogryposis multiplex... |
OMIM:601776 |
| Gaucher Disease, Type I |
|
Pulmonary arterial hypertension, Anemia, Erlenmeyer flask deformity of the femurs, Hypersplenism,... |
OMIM:230800 |
| Nephronophthisis 2 |
|
Pulmonary insufficiency, Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Hypertens... |
OMIM:602088 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Small for gestational age, Neoplasm of the pancreas, Elevated hepatic transaminase, Hepatic steat... |
ORPHA:2959 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Hip subluxation, High palate, Renal tubular acidosis, Wide nasal bridge, Micrognathia, Macrogloss... |
OMIM:613457 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Pallor, Hepatomegaly, Hepatosplenomegaly |
ORPHA:99931 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue, Anteverted nares, Short nose |
DECIPHER:52 |
| Primary Myelofibrosis |
|
Anemia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Lymphaden... |
ORPHA:824 |
| Fetal Hydantoin Syndrome |
|
Triphalangeal thumb, Depressed nasal ridge, Short nose, Short distal phalanx of finger, Cleft palate |
ORPHA:1912 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Tapered finger, Wide nasal bridge, Aganglionic megacolon, Microretrognathi... |
OMIM:613603 |
| Ulnar-Mammary Syndrome |
|
Decreased fertility, Hypoplasia of penis, Breast aplasia, Abnormality of the uterus, Delayed pube... |
ORPHA:3138 |
| Ring Chromosome 7 Syndrome |
|
Genu valgum, Mandibular prognathia, Short 5th finger, Small hand, Wide nasal bridge, Narrow naris... |
ORPHA:1449 |
| Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:618437 |
| Kid Syndrome |
|
Scaling skin, Epidermal acanthosis |
ORPHA:477 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Convex nasal ridge, Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Cal... |
ORPHA:90154 |
| White-Kernohan Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Hip dysplasia, Hydroureter, Recurrent otitis media, Shor... |
OMIM:619426 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Reduced natural killer cell activity, Jaundice, Elevated hepatic trans... |
OMIM:603553 |
| Disorder Of Sex Development-Intellectual Disability Syndrome |
|
Genu valgum, Hypoplasia of penis, Short nose |
ORPHA:2983 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenitis, Vesicoureteral reflux, Anemia, Eczema, Congestive heart failure, Elevated circulat... |
OMIM:615895 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Conjunctivitis, Anemia, Flexion contracture, Arthritis, Skin rash, Lymphopenia, ... |
OMIM:617591 |
| Arteriosclerosis, Severe Juvenile |
|
Short phalanx of finger, Anemia, Hip dysplasia, Hypertension, Myocardial infarction, Gastric ulce... |
OMIM:208060 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tapered finger, Clinodactyly of the 5th finger, Short nose, Depressed nasal bridge, Sandal gap, B... |
OMIM:618430 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Subvalvular aortic stenosis, Double outlet right ventricle, Mitral atresia, Facial erythema, Unic... |
OMIM:619503 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Retrognathia, High palate, Wide nasal bridge, Narrow naris, Short metacarpal, Recurrent urinary t... |
OMIM:617157 |
| Neuraminidase Deficiency |
|
Cardiomegaly, Splenomegaly, Hepatomegaly, Cardiomyopathy |
OMIM:256550 |
| Exstrophy-Epispadias Complex |
|
Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy... |
ORPHA:322 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Hypospadias, Gonadal dysgenesis, Cryptorchidism, Streak ovary, Uterus d... |
OMIM:618820 |
| Naxos Disease |
|
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Dilated ca... |
OMIM:601214 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ... |
ORPHA:324410 |
| Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Pulmonary arterial hypertension, Cleft soft palate, Wide nasal bridge, Micrognathia, Short nose, ... |
ORPHA:2282 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Glycosuria, Increased intramyocellular lipid droplets, Failure to thrive, Hepatomegaly, Decreased... |
OMIM:220110 |
| Camurati-Engelmann Disease |
|
Coxa valga, Delayed eruption of teeth, Cortical thickening of long bone diaphyses, Hypertrophic c... |
ORPHA:1328 |
| Saethre-Chotzen Syndrome |
|
Delayed cranial suture closure, Convex nasal ridge, Hallux valgus, Toe syndactyly, Cleft of chin,... |
OMIM:101400 |
| Geroderma Osteodysplasticum |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Periodontitis, Camptodactyly, Fem... |
OMIM:231070 |
| Coronary Arterial Fistula |
|
Patent foramen ovale, Cardiomegaly, Bacterial endocarditis, Bicuspid aortic valve, Atrial septal ... |
ORPHA:2041 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein, Limb hypertonia, Underdeveloped nasal ... |
ORPHA:423479 |
| Primary Hyperoxaluria Type 1 |
|
Anemia, Calcinosis, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Recurrent urinary ... |
ORPHA:93598 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Epidermal acanthosis |
OMIM:616069 |
| Al-Raqad Syndrome |
|
Brachydactyly, Sandal gap, Short nose |
OMIM:616459 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Facial erythema, Scaling skin, Dry skin |
ORPHA:1010 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
| Transcobalamin Ii Deficiency |
|
Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Methylmalonic aciduria,... |
OMIM:275350 |
| Kindler Epidermolysis Bullosa |
|
Camptodactyly of finger, Flexion contracture, Short 4th metacarpal, Abnormality of the anus, Uret... |
ORPHA:2908 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Delayed cranial suture closure, Anemia, Pulmonary arterial hypertension, Tapere... |
OMIM:620005 |
| Caroli Syndrome |
|
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Hypersplenism, Hyperbilirubinemia... |
ORPHA:480520 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Coronal craniosynostosis, Abnormal metacarpal morphology, Hypoplasia of the maxilla, Short distal... |
ORPHA:2095 |
| Meckel Syndrome, Type 3 |
|
Hepatic fibrosis, Bile duct proliferation, Malformation of the hepatic ductal plate, Hepatomegaly |
OMIM:607361 |
| Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Anemia, Stage 5 chronic kidney disease, Thickening of the t... |
OMIM:266900 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Underdeveloped nasal alae, High palate, Tapered finger, Wide nasal bridge, Limb hypertonia, Short... |
OMIM:615803 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Renal dysplasia, Torticollis, Pyelonephritis, Unilateral renal atrophy, Nephritis |
OMIM:314300 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Wide nose, Clinodactyly of the 5th finger, Hypoplasia of the maxilla, Recurrent upper respiratory... |
ORPHA:2399 |
| Mucopolysaccharidosis, Type Iiib |
|
Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:252920 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Epidermal acanthosis |
OMIM:148600 |
| C Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Multicystic kidney dysplasia, High palate, ... |
ORPHA:1308 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Bifid uvula, Camptodactyly, Hip dislocation, Roc... |
OMIM:613458 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Small for gestational age, Type II diabetes mellitus, Hepatic st... |
OMIM:210900 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Polysplenia, Hypoplastic colon, Cystic renal dysplasia, Short nose, Postaxial ha... |
OMIM:200995 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Micrognathia, Clinodactyly, Clinodactyly of the 5th finger, Short nose, Aortic regurgitation, Dep... |
OMIM:614114 |
| Riddle Syndrome |
|
Scaling skin, Erythema |
ORPHA:420741 |
| Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Tongue nodules, Bifid uvula, Supernumerary tooth, Postaxial foot pol... |
OMIM:258850 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Epidermal acanthosis |
OMIM:615735 |
| Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Muscle fiber splitting, Increased variability in muscle fiber diameter... |
OMIM:611881 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatitis, Elevated hepatic transaminase, Elevated circ... |
ORPHA:829 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Contractures of the large joints, High palate, Limb hypertonia, Hyperextensibility of the finger ... |
ORPHA:521426 |
| Primary Sclerosing Cholangitis |
|
Hepatocellular carcinoma, Elevated hepatic transaminase, Cholangiocarcinoma, Hepatosplenomegaly, ... |
ORPHA:171 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Broad columella, Advanced eruption of teeth, Depressed nasal bridge, Short nose |
OMIM:617865 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Barber-Say Syndrome |
|
Underdeveloped nasal alae, Dental malocclusion, Wide nose, Mandibular prognathia, High palate, De... |
OMIM:209885 |
| Cantu Syndrome |
|
Pericardial effusion, Cardiomegaly, Congenital hypertrophy of left ventricle, Bicuspid aortic valve |
OMIM:239850 |
| Senior-Boichis Syndrome |
|
Increased total bilirubin, Anemia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, ... |
ORPHA:84081 |
| Desmosterolosis |
|
Joint contracture of the hand, Abnormal circulating cholesterol concentration, Micrognathia, Shor... |
OMIM:602398 |
| Liver Disease, Severe Congenital |
|
Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... |
OMIM:619991 |
| Tetrasomy 18P |
|
Syncope, Short nose |
ORPHA:3307 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hyperhidrosis, Methylmalonic acidemia, Elevated hepatic transaminase, Increased intramyocellular ... |
ORPHA:17 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent sinusitis, Eczema, Hepatosplenomegaly, Panniculitis, Splenomegaly, Arthritis, Skin rash... |
OMIM:615688 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymph... |
OMIM:613011 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias |
OMIM:250790 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Increased urinary taurine, Increased urinary thiosulfate, Absent urinary urothione, Xanthine neph... |
OMIM:252150 |
| Glycogen Storage Disease Ia |
|
Hyperuricemia, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transaminase, Hypoglyc... |
OMIM:232200 |
| Fanconi Anemia, Complementation Group F |
|
Leukopenia, Absent thumb, Anemia, Vesicoureteral reflux, Microphallus, 2-3 finger syndactyly, Sho... |
OMIM:603467 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Anemia, Distal renal tubular acidosis, Hepatosplenomegaly, Diaphyseal sclero... |
OMIM:259730 |
| Craniofaciofrontodigital Syndrome |
|
Palmoplantar cutis laxa, Ventricular septal defect, Cutis laxa, Pericardial effusion, Bicuspid ao... |
ORPHA:363705 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Short nose, ... |
OMIM:252160 |
| Angelman Syndrome |
|
Hypoplasia of the maxilla, Mandibular prognathia, Protruding tongue, Macroglossia |
OMIM:105830 |
| Meier-Gorlin Syndrome 6 |
|
Underdeveloped nasal alae, Depressed nasal ridge, Patellar aplasia, Hip dysplasia, Microretrognat... |
OMIM:616835 |
| Popliteal Pterygium Syndrome |
|
Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,... |
OMIM:119500 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Wide nasal bridge, Broad hallux, Facial palsy, Genu valgum, Short 4t... |
OMIM:615873 |
| Meier-Gorlin Syndrome 4 |
|
Patellar aplasia, Micrognathia, Slender long bone, Hypoplasia of the maxilla, Genu recurvatum |
OMIM:613804 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Retrognathia, Keratoconjunctivitis sicca, Short nose, Anteverted nares, Hypoplasia of teeth |
OMIM:234050 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Increased serum zinc |
OMIM:601979 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
B lymphocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis, Bone marrow hy... |
OMIM:301078 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Contractures of the large joints, High palate, Micrognathia, Hypomimic face, Short nose, Long fin... |
OMIM:617527 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, High palate, Short foot, Small hand, Delayed eruption of teeth, Telangiect... |
OMIM:268400 |
| Kaufman Oculocerebrofacial Syndrome |
|
High palate, Micrognathia, Clinodactyly of the 5th finger, Short nose, Intestinal malrotation, Me... |
OMIM:244450 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Slender long bone, Short nose, Anteverted nares, Cubitus valgus, Genu recurvatum |
ORPHA:1185 |
| Craniosynostosis And Dental Anomalies |
|
Short phalanx of finger, 2-3 toe syndactyly, Convex nasal ridge, Hallux valgus, Delayed eruption ... |
OMIM:614188 |
| Cirrhotic Cardiomyopathy |
|
Abnormal circulating A-type atrial natriuretic peptide concentration, Cirrhosis, Jaundice, Left v... |
ORPHA:57777 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Infectious encephalitis, Nephrotic syndrome, Hepatitis, Lymphocytos... |
ORPHA:139402 |
| Citrullinemia, Classic |
|
Cirrhosis, Episodic ammonia intoxication, Failure to thrive, Hyperammonemia, Hypoargininemia, Hep... |
OMIM:215700 |
| Usher Syndrome, Type Ig |
|
Hypoplasia of the nasal bone |
OMIM:606943 |
| Fabry Disease |
|
Glomerulopathy, Abnormal circulating lipid concentration, Angina pectoris, Hypertrophic cardiomyo... |
ORPHA:324 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Prostatitis, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
| Cranioectodermal Dysplasia 1 |
|
Wide nasal bridge, Stage 1 chronic kidney disease, Radial deviation of finger, Flattened epiphysi... |
OMIM:218330 |
| Hepatocellular Carcinoma |
|
Hemobilia, Abnormality of the liver, Weight loss, Liver abscess, Type II diabetes mellitus, Hyper... |
ORPHA:88673 |
| Digeorge Syndrome |
|
Hypothyroidism, Hypoplasia of the thymus, Hydrocele testis, Abnormality of the thymus, Parathyroi... |
OMIM:188400 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Pancreatic cysts, Pancreatic hypoplasia, Hepatic fibrosis, Hepatitis, Splenic cyst, Diabetes mell... |
OMIM:610199 |
| Nephronophthisis 4 |
|
Renal tubular atrophy, Anemia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Poly... |
OMIM:606966 |
| Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Bicornuate uterus |
ORPHA:958 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Intrahepatic biliary atresia, Hepatic fibrosis, Hepatic failure, Sclerosing cholangitis, Jaundice... |
OMIM:607626 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Hepatic cysts, Weight loss, Neoplasm of the liver, Elevated hepatic transa... |
ORPHA:100085 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Epidermal acanthosis |
OMIM:610227 |
| Gitelman Syndrome |
|
Palpitations, Chondrocalcinosis, Decreased urinary potassium, Renal tubular acidosis, Low-to-norm... |
ORPHA:358 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Anemia, Hypokalemia, Hypertension, Decreased urinary potassium |
OMIM:611489 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anemia, Renal tubular acidosis, Anisopoikilocytosis, Schistocytosis, Hyperammonemia, Acanthocytosis |
OMIM:616457 |
| Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa... |
ORPHA:91347 |
| Rothmund-Thomson Syndrome |
|
Broad ulna, Anemia, Malar rash, Calcinosis, Delayed eruption of teeth, Short thumb, Skin rash, Me... |
ORPHA:2909 |
| Cardiac-Urogenital Syndrome |
|
Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Biventricular hypertrophy, Uni... |
OMIM:618280 |
| Pseudoxanthoma Elasticum |
|
Restrictive cardiomyopathy, Optic disc drusen, Cutis laxa, Mitral stenosis, Mitral valve prolapse... |
OMIM:264800 |
| Warburg Micro Syndrome 2 |
|
Flexion contracture, Clinodactyly of the 4th toe, Clinodactyly of the 5th toe, Short nose, Overla... |
OMIM:614225 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Interstitial pneumonitis, Lymphopenia, Oral leukoplakia, Carious teeth, Incre... |
OMIM:127550 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Short phalanx of finger, Coxa valga, Flared iliac wing, Narrow pelvis bone, Limited elbow extensi... |
OMIM:300106 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Flexion contracture, IgA deposition in the glomerulus, Urethral stricture... |
ORPHA:79408 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Jaundice, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Hepati... |
OMIM:613095 |
| Aymé-Gripp Syndrome |
|
Delayed cranial suture closure, Tapered finger, Supernumerary ribs, Camptodactyly, Radioulnar syn... |
ORPHA:1272 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Mandibular prognathia, Ulnar deviation of finger, Hypoplasia of the musc... |
ORPHA:1101 |
| Immunodeficiency 87 And Autoimmunity |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... |
OMIM:619573 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphadenitis, Decreased circulating total IgM, Decreased circulating antibody level, Reduced ant... |
ORPHA:331206 |
| Weiss-Kruszka Syndrome |
|
Clinodactyly of the 5th finger, Left ventricular hypertrophy, Short nose, Proximal placement of t... |
OMIM:618619 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
| Somatostatinoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, I... |
ORPHA:97283 |
| Hyperparathyroidism, Neonatal Severe |
|
Aminoaciduria, Metaphyseal irregularity, Anemia, Calcinosis, Hyperphosphaturia, Hypophosphatemia,... |
OMIM:239200 |
| Hemochromatosis, Type 5 |
|
Anemia, Abnormal circulating copper concentration, Elevated transferrin saturation, Abnormal circ... |
OMIM:615517 |
| Pseudotrisomy 13 Syndrome |
|
Micropenis, Cryptorchidism, Adrenal hypoplasia, Bicornuate uterus |
OMIM:264480 |
| Nephronophthisis 18 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Stage 5 chronic kidney disease, Hypertension... |
OMIM:615862 |
| Roberts-Sc Phocomelia Syndrome |
|
Wrist flexion contracture, Absent thumb, Wide nasal bridge, Micrognathia, Elbow flexion contractu... |
OMIM:268300 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Hepatomegaly |
ORPHA:85414 |
| Desmoplastic Small Round Cell Tumor |
|
Weight loss, Neoplasm of the pancreas, Cachexia, Abnormality of the peritoneum, Hepatomegaly, Asc... |
ORPHA:83469 |
| Oeis Complex |
|
Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La... |
OMIM:258040 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic aciduria, Anemia, Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Pancytopenia,... |
OMIM:251110 |
| Restrictive Dermopathy |
|
Dermal translucency, Atrial septal defect, Scaling skin, Hypospadias, Dextrocardia, Transposition... |
ORPHA:1662 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Chordee, Hypospadias, Ovotestis, Micropenis, Clitoral hypertrophy, Hypoplasia of the uterus |
OMIM:309801 |
| Trichothiodystrophy 1, Photosensitive |
|
Retrognathia, Flexion contracture, Telangiectasia, Malabsorption, Keratoconjunctivitis sicca, Sho... |
OMIM:601675 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:611936 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Pancreatic cysts, Asplenia, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Enlarged kidney, Poly... |
OMIM:208540 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Micrognathia, Short nose |
OMIM:256600 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hip subluxation, Vesicoureteral reflux, Cervical C2/C3 vertebral fusion, Pulmonary arterial hyper... |
ORPHA:444077 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Flexion contracture, High palate, Tapered finger, Small hand, Micrognathia, Clinodactyly, Camptod... |
OMIM:309590 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Hepatic steatosis, Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kin... |
OMIM:615356 |
| Matthew-Wood Syndrome |
|
Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas, Cryptorchidism, Annular pancreas |
ORPHA:2470 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
High palate, Wide nasal bridge, Micrognathia, Short nose, Broad nasal tip, Prominent nasal bridge |
OMIM:300749 |
| Sickle Cell Disease |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Jaundice, Splenic infarction, Leuko... |
OMIM:603903 |
| Mogs-Cdg |
|
Optic atrophy, External genital hypoplasia, Absent brainstem auditory responses, Left ventricular... |
ORPHA:79330 |
| Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
High palate, Finger syndactyly, Micrognathia, Clinodactyly of the 5th finger, Down-sloping should... |
ORPHA:1974 |
| Gamma-Heavy Chain Disease |
|
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, ... |
ORPHA:100026 |
| Coffin-Siris Syndrome |
|
Short 5th finger, Aspiration pneumonia, Delayed eruption of teeth, Clinodactyly, Short nose, Wide... |
ORPHA:1465 |
| Fontaine Progeroid Syndrome |
|
Convex nasal ridge, Recurrent aspiration pneumonia, Micrognathia, Tricuspid regurgitation, Left v... |
OMIM:612289 |
| Omodysplasia 1 |
|
Short tibia, Limited elbow flexion, Limited knee flexion/extension, Anterolateral radial head dis... |
OMIM:258315 |
| Birk-Landau-Perez Syndrome |
|
Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Limb hypertonia, Increased circulat... |
OMIM:617595 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal fallopian tube morphology, Pulmonary lymphangiectasia, Hepatosplenomegaly, Abnormality o... |
ORPHA:1655 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Polydactyly, Tapered finger, Cleft soft palate, Hallux valgus, Osteochondrosis, Supernumerary too... |
ORPHA:268261 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Optic atrophy |
ORPHA:391428 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Tubulointerstitial nephritis, Cardiomyopathy, Elevated circulating acylcarnitine concentration, R... |
ORPHA:157 |
| Isolated Right Ventricular Hypoplasia |
|
Patent foramen ovale, Atrial septal defect, Muscular ventricular septal defect, Cardiomegaly, Rig... |
ORPHA:439 |
| Peho Syndrome |
|
Flexion contracture, Tapered finger, Short nose, Anteverted nares, Malar flattening, Arthrogrypos... |
ORPHA:2836 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Tapered finger, Camptodactyly, Short nose, Depressed nasal bridge, Malar flattening, Brachydactyl... |
OMIM:601353 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Acute pancreatitis, Lymphadenop... |
OMIM:618935 |
| Ppoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, I... |
ORPHA:97278 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Epispadias, Short nose, Abnormality of the bladder, Abnormality of the ure... |
ORPHA:3339 |
| Glutaric Acidemia I |
|
Failure to thrive, Hypoglycemia, Elevated circulating glutaric acid concentration, Hepatomegaly |
OMIM:231670 |
| Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
| Vipoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, I... |
ORPHA:97282 |
| Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Short foot, Joint contracture of ... |
OMIM:231050 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Skin vesicle, Erythema |
ORPHA:2841 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Cerebral hemorrhage, Epiphyseal stippling, Short nose, Epistaxis, Short distal phalanx of finger,... |
OMIM:277450 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
| Cerebrooculonasal Syndrome |
|
High palate, Narrow palate, Proboscis, Craniosynostosis, Short nose, Anteverted nares, Postaxial ... |
OMIM:605627 |
| Primary Sjögren Syndrome |
|
Chronic active hepatitis, Keratoconjunctivitis sicca, Polyarticular arthropathy, Myositis, Glomer... |
ORPHA:289390 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, Recurrent skin ... |
ORPHA:79404 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Tapered finger, Short 5th finger, Wide nasal bridge, Urethral stricture, Short nose, Grade III ve... |
OMIM:619522 |
| Aregenerative Anemia |
|
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... |
ORPHA:101096 |
| Witteveen-Kolk Syndrome |
|
Wide nasal bridge, Toe syndactyly, Eczema, Overlapping toe, Radial deviation of finger, Contractu... |
OMIM:613406 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Enlarged kidney, Malformation of the hepatic ductal plate, Cholestasi... |
OMIM:615415 |
| Wiedemann-Steiner Syndrome |
|
Dilatation of renal calices, High palate, Tapered finger, Wide nasal bridge, Abnormality of the e... |
ORPHA:319182 |
| Aicardi-Goutieres Syndrome 7 |
|
Hypothyroidism, Weight loss, Increased circulating antibody level, Hepatitis, Hepatic steatosis, ... |
OMIM:615846 |
| Cornelia De Lange Syndrome |
|
Delayed eruption of teeth, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Clef... |
ORPHA:199 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperuricemia, Enlarged kidney, Hepatocellular carcinoma, Elevated hepatic transami... |
OMIM:232220 |
| Aorta Coarctation |
|
Aortic valve atresia, Perimembranous ventricular septal defect, Bicuspid aortic valve, Abnormal l... |
ORPHA:1457 |
| Okamoto Syndrome |
|
Underdeveloped nasal alae, Polydactyly, Urinary incontinence, Wide nasal bridge, Exaggerated medi... |
ORPHA:2729 |
| Castleman Disease |
|
Anemia, Restrictive cardiomyopathy, Renal insufficiency, Ureteral obstruction, Hematuria, Decreas... |
ORPHA:160 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Bifid ribs, Short nose, Rib fusion, Cleft palate |
ORPHA:1394 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
| Split Lower Lip |
|
Narrow maxilla |
OMIM:183400 |
| Hereditary Fructose Intolerance |
|
Hyperuricemia, Hypophosphatemia, Jaundice, Hypermagnesemia, Chronic hepatic failure, Reactive hyp... |
ORPHA:469 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple |
ORPHA:1521 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Recurrent urinary tract infections, Abnormality of the kidney, Pyelone... |
ORPHA:2036 |
| Bardet-Biedl Syndrome 1 |
|
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Left ventricular hypertrophy, ... |
OMIM:209900 |
| Omenn Syndrome |
|
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... |
OMIM:603554 |
| Refsum Disease, Classic |
|
Cardiomegaly, Cardiomyopathy |
OMIM:266500 |
| Williams Syndrome |
|
Sudden cardiac death, Peptic ulcer, Abnormal circulating lipid concentration, Colonic diverticula... |
ORPHA:904 |
| Ayme-Gripp Syndrome |
|
Delayed cranial suture closure, Mandibular prognathia, Tapered finger, Wide nasal bridge, Craniof... |
OMIM:601088 |
| Limb-Mammary Syndrome |
|
Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Primary amenorrhea, H... |
ORPHA:69085 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Renal dysplasia, Toe syndactyly, Bifid uvula, Hip dislocation, Overlapping ... |
ORPHA:672 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Scaling skin, Urethral stricture, Anoperineal fistula |
ORPHA:158668 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Hypoplasia of the frontal bone, Bifid uvula, Bifid nose, Midline defec... |
OMIM:229400 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic transaminase, Failu... |
OMIM:203700 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Aganglionic megacolon, Atrial septal defect, Scaling skin, Hypospadias, Crypto... |
OMIM:308205 |
| Gaucher Disease, Type Iiic |
|
Splenomegaly, Mitral stenosis, Hepatomegaly, Cardiomegaly, Aortic valve calcification, Mitral val... |
OMIM:231005 |
| Nephronophthisis 11 |
|
Renal tubular atrophy, Anemia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubu... |
OMIM:613550 |
| Beckwith-Wiedemann Syndrome |
|
Large intestinal polyposis, Elevated circulating alpha-fetoprotein concentration, Hypertrophic ca... |
ORPHA:116 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Nicolaides-Baraitser Syndrome |
|
Short phalanx of finger, Short metatarsal, Hallux valgus, Short metacarpal, Eczema, Broad 2nd toe... |
OMIM:601358 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Pulmonary arterial hypertension, 2-3 toe syndactyly, Pulmonary hemorrhage, Macrodontia of permane... |
ORPHA:363611 |
| Acromesomelic Dysplasia 1 |
|
Short phalanx of finger, Short toe, Short metacarpal, Hypoplasia of the radius, Radial bowing, Lo... |
OMIM:602875 |
| Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Fetal pyelectasis, Adducted thumb, Short nose |
ORPHA:50810 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Abnormality of the liver, J... |
ORPHA:309854 |
| Fryns Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Cryptorchidism, Bicornuate uterus |
ORPHA:2059 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Bicornuate uterus, Labial hypoplasia, Septate vagina, Rectovaginal fistula, Clitoral hypertrophy |
OMIM:300707 |
| Cocaine Intoxication |
|
Hypotension, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, Elevated circu... |
ORPHA:90068 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
| Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h... |
ORPHA:86843 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Retrognathia, Tapered finger, Small hand, Hip dysplasia, 1-2 toe syndactyly, Clinodactyly, Campto... |
OMIM:301044 |
| Williams-Beuren Syndrome |
|
Flexion contracture, Colonic diverticula, Hallux valgus, Supravalvular aortic stenosis, Celiac di... |
OMIM:194050 |
| Peters-Plus Syndrome |
|
Micrognathia, Conical incisor, Square pelvis bone, Cleft palate, Short palm, Short toe, Agenesis ... |
OMIM:261540 |
| Olmsted Syndrome, X-Linked |
|
Epidermal acanthosis |
OMIM:300918 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Renal cortical hyperechogenicity, Elevated pulmonary artery pressure, Bidirectional shunt, Anuria... |
OMIM:619351 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sagittal craniosynostosis, Absent thumb, Ischemic stroke, Wide nasal bridge, Transient ischemic a... |
ORPHA:500150 |
| Microphthalmia, Syndromic 9 |
|
Bicornuate uterus, Cryptorchidism, Hypoplasia of the uterus |
OMIM:601186 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Atrioventricular canal defect, Hepatomegaly, Right atrial isomerism,... |
OMIM:306955 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia |
OMIM:618398 |
| Specc1L-Related Hypertelorism Syndrome |
|
Short toe, Finger syndactyly, Wide nasal bridge, Advanced eruption of teeth, Clinodactyly of the ... |
ORPHA:1519 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Polydactyly, Stage 5 chronic kidney disease, Hypoplasia of the femo... |
OMIM:616629 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hypoglycemia, Hepatomegaly |
OMIM:229700 |
| Lethal Acantholytic Erosive Disorder |
|
Acantholysis, Cardiomegaly, Cardiomyopathy |
ORPHA:158687 |
| Chronic Actinic Dermatitis |
|
Epidermal acanthosis |
ORPHA:330064 |
| Camurati-Engelmann Disease |
|
Anemia, Mandibular prognathia, Genu valgum, Cortical thickening of long bone diaphyses, Diaphysea... |
OMIM:131300 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Epidermal acanthosis |
OMIM:613102 |
| 16P13.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Metatarsus valgus, Short nose, Depressed nasal bridge, Anteverted nares,... |
ORPHA:261236 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Epidermal acanthosis, Dry skin, Optic disc pallor |
OMIM:618527 |
| Lysinuric Protein Intolerance |
|
Leukopenia, Anemia, Aminoaciduria, Pulmonary hemorrhage, Stage 5 chronic kidney disease, Pancreat... |
OMIM:222700 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hepatomegaly |
OMIM:619183 |
| Monosomy 9Q22.3 |
|
Nephroblastoma, Polydactyly, Delayed eruption of teeth, Short nose, Abnormal rib morphology, Meto... |
ORPHA:77301 |
| Sarcoidosis |
|
Bronchiectasis, Keratoconjunctivitis sicca, Heart block, Increased T cell count, Parotitis, Eosin... |
ORPHA:797 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Aminoaciduria, Scleritis, Mild proteinuria, Renal interstitial edema, Renal neutrophilic tubuliti... |
ORPHA:91500 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Delayed eruption of teeth, Craniosynostosis, Hypophospha... |
ORPHA:667 |
| Noonan Syndrome 3 |
|
Sagittal craniosynostosis, High palate, Short nose, Hypoplastic nasal bridge, Left unilambdoid sy... |
OMIM:609942 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis |
OMIM:148700 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
External genital hypoplasia, Epidermal acanthosis, Erythema |
OMIM:242100 |
| Adenylosuccinase Deficiency |
|
Prominent metopic ridge, Skeletal muscle atrophy, Anteverted nares, Short nose |
OMIM:103050 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hip subluxation, Coxa valga, Wide nasal bridge, Micrognathia, Scapular winging, Vesicoureteral re... |
OMIM:150230 |
| Meacham Syndrome |
|
Bicornuate uterus, Enlarged kidney, Male pseudohermaphroditism, Blind vagina, Septate vagina |
OMIM:608978 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated circulating alanine aminotransferase concentration, Increased hepatic echogenicity, Elev... |
OMIM:619525 |
| Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Renal tubular atrophy, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
| Blau Syndrome |
|
Camptodactyly of finger, Large vessel vasculitis, Pericarditis, Retrobulbar optic neuritis, Abnor... |
ORPHA:90340 |
| Restrictive Dermopathy 1 |
|
Scaling skin, Hypospadias, Atrial septal defect |
OMIM:275210 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Delayed cranial suture closure, Anemia, Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosc... |
ORPHA:93325 |
| Distal Monosomy 19P13.3 |
|
Hypoplasia of the maxilla, Cleft palate, Long toe, Arachnodactyly |
ORPHA:96129 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Leukopenia, Atrophic gastritis, Non-caseating epithelioid cell gran... |
ORPHA:227990 |
| Acrorenal-Mandibular Syndrome |
|
Unicornuate uterus, Bicornuate uterus, Polycystic kidney dysplasia, Absent nipple, Uterus didelphys |
OMIM:200980 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Anemia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyp... |
OMIM:174900 |
| Ablepharon Macrostomia Syndrome |
|
Camptodactyly of finger, Underdeveloped nasal alae, Toe syndactyly, Hypoplasia of penis, Hypoplas... |
ORPHA:920 |
| Grfoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, I... |
ORPHA:97261 |
| Aspartylglucosaminuria |
|
Aspartylglucosaminuria, Mandibular prognathia, Wide nasal bridge, Malabsorption, Arthritis, Macro... |
ORPHA:93 |
| Menke-Hennekam Syndrome 1 |
|
Underdeveloped nasal alae, Flexion contracture, High palate, Depressed nasal ridge, Cutaneous syn... |
OMIM:618332 |
| Fanconi Anemia |
|
Abnormal preputium morphology, Hypogonadism, Abnormal testis morphology, Bicornuate uterus, Decre... |
ORPHA:84 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Aplasia of the uterus, Hypoplasia of the vagina |
ORPHA:3109 |
| Argininemia |
|
Portal fibrosis, Hyperammonemia, Micronodular cirrhosis, Hyperargininemia, Hepatomegaly, Cholestasis |
OMIM:207800 |
| Argininosuccinic Aciduria |
|
Hepatic fibrosis, Episodic ammonia intoxication, Elevated circulating aspartate aminotransferase ... |
OMIM:207900 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Leukopenia, Atrophic gastritis, Non-caseating epithelioid cell gran... |
ORPHA:227982 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Labial hypoplasia, Clitoral hypertrophy, Bicornuate uterus |
ORPHA:140952 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Underdeveloped nasal alae, Rhinitis, Taurodontia, Eczema, Short nose, Hypoplasia of the maxilla, ... |
OMIM:305100 |
| Huriez Syndrome |
|
Epidermal acanthosis |
OMIM:181600 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Nodular regenerative hyperplasia of liver, Decreased LDL cholesterol concentration, Microvesicula... |
ORPHA:404454 |
| Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis |
OMIM:608649 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Optic atrophy, Cardiomyopathy |
OMIM:619259 |
| Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Esophageal atresia, Bifid uvula, Clinodactyly of the 5th finger, Short nose, Trache... |
OMIM:301030 |
| Glucagonoma |
|
Intermittent jaundice, Increased circulating prolactin concentration, Extrahepatic cholestasis, I... |
ORPHA:97280 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Diabetes mellitus, Hepatomegaly... |
ORPHA:565612 |
| Autosomal Dominant Cutis Laxa |
|
Delayed cranial suture closure, Bronchiectasis, Bladder diverticulum, Hip dislocation, Small bowe... |
ORPHA:90348 |
| Complete Atrioventricular Septal Defect |
|
Primum atrial septal defect, Displacement of the papillary muscles, Complete atrioventricular can... |
ORPHA:1329 |
| Sandhoff Disease |
|
Orthostatic hypotension, Cardiomegaly, Hepatomegaly, Hepatosplenomegaly |
OMIM:268800 |
| Currarino Syndrome |
|
Septate vagina, Rectovaginal fistula, Bicornuate uterus |
OMIM:176450 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Proboscis, Absent nasal septal cartilage, Bifid uvula, Submucous cleft... |
OMIM:157170 |
| Waardenburg Syndrome |
|
Abnormality of the uterus, Abnormal vagina morphology |
ORPHA:3440 |
| Beck-Fahrner Syndrome |
|
Cardiomegaly, Ventricular septal defect |
OMIM:618798 |
| Geleophysic Dysplasia 2 |
|
Pulmonary arterial hypertension, Short foot, Mitral stenosis, Short nose, Mitral regurgitation, T... |
OMIM:614185 |
| Acrokeratosis Verruciformis Of Hopf |
|
Acantholysis, Epidermal acanthosis |
ORPHA:79151 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Periportal fibrosis, Enlarged kidney, Hepatomegaly, Hepatic c... |
OMIM:263200 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis |
ORPHA:38 |
| Leopard Syndrome 1 |
|
Aplasia of the ovary, Hypoplasia of the ovary, Hypospadias, Delayed puberty, Cryptorchidism, Micr... |
OMIM:151100 |
| Danon Disease |
|
Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic cardiomyopathy, Myocardial necrosis, Ca... |
OMIM:300257 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Fucosidosis |
|
Cardiomegaly, Dry skin, Splenomegaly, Hepatomegaly |
OMIM:230000 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Cardiomegaly, Brachial plexus neuropathy, Right ventricular hypertrophy |
ORPHA:268 |
| Alström Syndrome |
|
Hepatosplenomegaly, Oligospermia, Decreased circulating T4 concentration, Hepatomegaly, Splenomeg... |
ORPHA:64 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Wide nasal bridge, Depressed nasal tip, Genu valgum, Osteomyelitis, Short nose, Bulbous nose, Hea... |
OMIM:619475 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse, Azoospermia, Atrial septal d... |
OMIM:602782 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Epidermal acanthosis |
OMIM:242300 |
| Pagod Syndrome |
|
Ambiguous genitalia, Multicystic kidney dysplasia, Abnormal testis morphology, Agonadism, Abnorma... |
ORPHA:991 |
| Mosaic Trisomy 9 |
|
Abnormal fallopian tube morphology, Hypoplasia of penis, Hypoplastic female external genitalia, A... |
ORPHA:99776 |
| Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Hepatomegaly, Cirrhosis |
OMIM:243910 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis |
OMIM:616029 |
| Cole Disease |
|
Epidermal acanthosis |
OMIM:615522 |
| Lymphedema-Distichiasis Syndrome |
|
Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Conjunctivitis, Recurrent urinar... |
ORPHA:33001 |
| Hartsfield Syndrome |
|
Wide nose, Hypoplasia of the frontal bone, Syndactyly, Hypospadias, Cleft palate, Hypernatremia, ... |
OMIM:615465 |
| Jaberi-Elahi Syndrome |
|
Depressed nasal bridge, Short nose |
OMIM:617988 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Heavy prote... |
ORPHA:255249 |
| Faciocardiomelic Syndrome |
|
Dental malocclusion, Polydactyly, Micrognathia, Slender long bone, Hyperplasia of the maxilla, De... |
OMIM:612731 |
| Psoriasis 14, Pustular |
|
Epidermal acanthosis, Erythema |
OMIM:614204 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Uterus didelphys, Micropenis |
OMIM:617925 |
| Singleton-Merten Syndrome 1 |
|
Osteolytic defects of the phalanges of the hand, Hip subluxation, Eruption failure, Genu valgum, ... |
OMIM:182250 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Lower-limb joint contracture, Micrognathia, Prominent nasal tip, Hip dysplasia, Hyperplasia of th... |
ORPHA:513456 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Type II diabetes mellitus, Thyr... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Type II diabetes mellitus, Thyr... |
ORPHA:99228 |
| Monosomy X |
|
Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Type II diabetes mellitus, Thyr... |
ORPHA:99226 |
| Turner Syndrome |
|
Hyperinsulinemia, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Type II diabetes mellitus, Thyr... |
ORPHA:881 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Patent foramen ovale, Cutis laxa, Bicuspid aortic valve, Mitral valve prolapse, Left ventricular ... |
OMIM:245600 |
| Peters Plus Syndrome |
|
Intestinal fistula, Short toe, Renal duplication, Multicystic kidney dysplasia, Toe syndactyly, M... |
ORPHA:709 |
| Cogan Syndrome |
|
Conjunctivitis, Anemia, Scleritis, Large vessel vasculitis, Inflammatory abnormality of the eye, ... |
ORPHA:1467 |
| Ulbright-Hodes Syndrome |
|
Short sternum, Convex nasal ridge, High palate, Humeroradial synostosis, Short ribs, Short metaca... |
ORPHA:3404 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis |
OMIM:615023 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Facial telangiectasia, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectase... |
OMIM:600376 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Abnormal epidermal morphology, Epidermal acanthosis, Prostate cancer |
ORPHA:79501 |
| Penile Agenesis |
|
Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic renal dysplasia, An... |
ORPHA:49 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Epidermal acanthosis, Splenomegaly, Hepatomegaly |
OMIM:612852 |
| Primrose Syndrome |
|
Knee flexion contracture, Genu valgum, Flexion contracture, Hip contracture, High palate, Wide na... |
OMIM:259050 |
| Pallister-Killian Syndrome |
|
Short phalanx of finger, Delayed cranial suture closure, Flexion contracture, Wide nasal bridge, ... |
OMIM:601803 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neu... |
ORPHA:2968 |
| Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Glycosuria, Type II diabetes mellitus, Hepatic steatosis... |
ORPHA:79474 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Left ventricular hypertrophy, Macrovesicular hepatic steatosis, El... |
OMIM:619127 |
| Fucosidosis |
|
Cardiomegaly, Hepatomegaly |
ORPHA:349 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cutis laxa, Single ventricle, Atrial septal defect, Abnormal heart mor... |
ORPHA:95430 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Large for gestational age, Hepatomegaly, Elevated he... |
OMIM:300868 |
| Ulnar-Mammary Syndrome |
|
Imperforate hymen, Anterior pituitary hypoplasia, Bicornuate uterus, Shawl scrotum, Axillary apoc... |
OMIM:181450 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology |
ORPHA:3320 |
| Smith-Lemli-Opitz Syndrome |
|
Cirrhosis, Hepatic steatosis, Failure to thrive, Hepatomegaly, Cholestatic liver disease, Hypocho... |
OMIM:270400 |
| Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, Hype... |
OMIM:232240 |
| Norrie Disease |
|
Uterine rupture, Erectile dysfunction, Diabetes mellitus, Delayed puberty, Cryptorchidism |
ORPHA:649 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Epidermal acanthosis |
OMIM:615225 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Ventricular septal defect, Labial hypertrophy, Hepatomegaly, Cryptorchidism, ... |
ORPHA:96191 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Pericardial effusion, Enlarged kidney, Hypertrophic cardiomyopathy, Biventricular hypertrophy, In... |
OMIM:261740 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology |
ORPHA:1517 |
| Fraser Syndrome |
|
Urethral atresia, Ambiguous genitalia, Multicystic kidney dysplasia, Bicornuate uterus, Hypoplasi... |
ORPHA:2052 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad telangiectases, Hematemesis, Subarac... |
OMIM:187300 |
| Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Splenomegaly, Hepatosplenomegaly |
OMIM:238600 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
| Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Overriding aorta, Ventricular septal defect |
OMIM:617022 |
| Fryns Syndrome |
|
Bicornuate uterus, Bifid scrotum, Shawl scrotum, Ectopic pancreatic tissue, Renal cyst, Hypospadi... |
OMIM:229850 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Tubulointerstitial nephritis, Genu valgum, Nephrotic syndrome, Decreased glomerular filtration ra... |
ORPHA:488627 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Liver abscess, Granulomatosis, Lymphadenopathy, Hepatomegaly, Impaired oxidative b... |
OMIM:233710 |
| Renal Agenesis |
|
Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Wide nasal bridge, Anal atresia, Hypoplasia of the maxilla, Hypospadias, Anal stenosis |
OMIM:180500 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform lesion |
ORPHA:85436 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:308552 |
| Developmental And Epileptic Encephalopathy 95 |
|
Cardiomegaly, Hepatomegaly, Cryptorchidism |
OMIM:618143 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus |
OMIM:271520 |
| Olmsted Syndrome 2 |
|
Epidermal acanthosis |
OMIM:619208 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia |
OMIM:619879 |
| Hydrolethalus Syndrome 1 |
|
Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology |
OMIM:236680 |
| Sjogren Syndrome |
|
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:270150 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Small for gestational age, Left ventricular hypertrophy, Failur... |
OMIM:220111 |
| Craniofacial Microsomia |
|
Vesicoureteral reflux, Genu valgum, Multicystic kidney dysplasia, Block vertebrae, Hypoplasia of ... |
OMIM:164210 |
| Peroxisome Biogenesis Disorder 4B |
|
Ureterocele, Short nose |
OMIM:614863 |
| Fraser Syndrome 1 |
|
Bicornuate uterus, Abnormality of the thymus, Vaginal atresia, Hypospadias, Cryptorchidism, Micro... |
OMIM:219000 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
| Proboscis Lateralis |
|
Abnormal paranasal sinus morphology, Ureteral agenesis, Single naris, High palate, Proboscis, Abn... |
ORPHA:141099 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
2-3 toe syndactyly, Prominent nasal tip, Short nose, Progressive flexion contractures, Equinus ca... |
ORPHA:522077 |
| Townes-Brocks Syndrome 1 |
|
Hypothyroidism, Multicystic kidney dysplasia, Bifid scrotum, Rectoperineal fistula, Bifid uterus,... |
OMIM:107480 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis |
OMIM:619934 |
| Beckwith-Wiedemann Syndrome |
|
Gonadoblastoma, Pancreatic hyperplasia, Enlarged kidney, Hepatomegaly, Cryptorchidism, Cardiomega... |
OMIM:130650 |
| Reynolds Syndrome |
|
Biliary cirrhosis, Calcinosis, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Chole... |
OMIM:613471 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cervical insufficiency, Uterine rupture, Cryptorchidism, Cystocele, Uterine prolapse |
OMIM:130050 |
| 1P36 Deletion Syndrome |
|
Hypothyroidism, Abnormality of the liver, Hepatic steatosis, Failure to thrive, Annular pancreas,... |
ORPHA:1606 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Mitral atresia, Ventricular septal defect, Cardiac total anomalous... |
ORPHA:99125 |
| 1P21.3 Microdeletion Syndrome |
|
Micrognathia, Broad nasal tip, Short nose |
ORPHA:293948 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal mitral valve morphology, Optic atrophy, Abnormal aortic valve morphology, Hepatomegaly, ... |
ORPHA:581 |
| Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Epidermal acanthosis, Dry skin, Erythema |
OMIM:257980 |
| Absence Of The Pulmonary Artery |
|
Patent foramen ovale, Truncus arteriosus, Abnormal cardiac septum morphology, Atrial septal defec... |
ORPHA:980 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Single ventricle, Epidermal acanthosis, Abnormal cardiac septum morphology |
OMIM:308050 |
| Truncus Arteriosus |
|
Truncus arteriosus, Ventricular septal defect, Transposition of the great arteries, Pulmonic sten... |
ORPHA:3384 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hypohidrosis, Anhidrosis, Failure to thrive, Hepatomegaly, Splenomegaly |
OMIM:612132 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Recurrent pancreatitis, Narrow nasal ridge, Lower limb muscle we... |
OMIM:606721 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Thyroiditis, Keratoconjunctivitis sicca, Myositis, Abnormality of t... |
ORPHA:79078 |
| Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum |
OMIM:140850 |
| Pontocerebellar Hypoplasia Type 7 |
|
Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor... |
ORPHA:284339 |
| Glycogen Storage Disease Ii |
|
Cardiomegaly, Splenomegaly, Hepatomegaly |
OMIM:232300 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Anemia, Telangiectasia, Clubbing, Epistaxis, Juvenile gastrointestinal polyposis, Mitral regurgit... |
OMIM:175050 |
| Craniorachischisis |
|
Bifid sternum, Congenital diaphragmatic hernia, Anal atresia |
ORPHA:63260 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Left ventricular noncompac... |
OMIM:300967 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Cystic Fibrosis |
|
Biliary cirrhosis, Cirrhosis, Hepatosplenomegaly, Failure to thrive, Hepatomegaly, Exocrine pancr... |
OMIM:219700 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Atrial septal dilatation, Hepatomegaly, Cardiomegaly, Right atrial enlargement, Right ventricular... |
ORPHA:1677 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Hypospadias, Right ventricular hypertrophy, Bicornuate uterus |
OMIM:265380 |
| Neu-Laxova Syndrome 1 |
|
Bifid uterus, Cryptorchidism |
OMIM:256520 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, female, External genital hypoplasia, Polycystic kidney dysplasia, Ambiguous ... |
OMIM:249000 |
| Mucolipidosis Ii Alpha/Beta |
|
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:252500 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Dry skin, Cardiomegaly, Micropenis |
ORPHA:51 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Redundant neck skin, H... |
ORPHA:3472 |
| Wiedemann-Rautenstrauch Syndrome |
|
Increased circulating prolactin concentration, Hyperthyroidism, Decreased response to growth horm... |
ORPHA:3455 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Ambiguous genitalia, Urethrovaginal fistula, Hypoplasia of penis, Renal cyst, Cryptorchidism, Ute... |
ORPHA:93271 |
| Bohring-Opitz Syndrome |
|
Cardiomegaly, Optic atrophy, Abnormal cardiac septum morphology |
ORPHA:97297 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal salivary gland morphology, Cryptorchidism, Lacrimal gland aplasia, Bicornuate uterus |
ORPHA:2363 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina |
ORPHA:457284 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of molar, Aplasia of the maxilla, Agenesis of lateral incisor |
OMIM:313500 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Bicuspid aortic valve |
ORPHA:91387 |
| 22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Hypothyroidism, Hypoplasia of the thymus, Hyperthyroidism, Polycystic kidney dysp... |
ORPHA:567 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly |
ORPHA:365 |
| Intermediate Uveitis |
|
Tubulointerstitial nephritis, Optic neuritis, Psoriasiform dermatitis, Anterior uveitis, Vasculitis |
ORPHA:279914 |
| Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Townes-Brocks Syndrome |
|
Hypothyroidism, Bifid scrotum, Rectoperineal fistula, Hypoplasia of penis, Abnormality of the ute... |
ORPHA:857 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Perimembranous ventricular septal defect, Hepatomegaly, Cryptorchidism, Epidermal acanthosis, Mic... |
ORPHA:83617 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Epididymitis, Erythema, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:256040 |
| Tropical Endomyocardial Fibrosis |
|
Restrictive cardiomyopathy, Coronary artery stenosis, Right ventricular cardiomyopathy, Endocardi... |
ORPHA:75565 |
| Vascular Ehlers-Danlos Syndrome |
|
Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse |
ORPHA:286 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Abnormality of the anterior pituitary, Hypothyroidism, Increased circulating prolactin concentrat... |
ORPHA:438213 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Biliary tract abnormality, Aplasia of the uterus, Hypospadias, Accessory sple... |
OMIM:194190 |
| Classical Ehlers-Danlos Syndrome |
|
Cervical insufficiency, Uterine prolapse |
ORPHA:287 |
| Coffin-Siris Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Aplasia of the uterus, Hypospadias, Cryptorchidi... |
OMIM:135900 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Aplasia of the uterus, Hypospadias, Cryptorchidism, Hypoplastic n... |
OMIM:276820 |
| Aneurysm-Osteoarthritis Syndrome |
|
Left ventricular hypertrophy, Uterine prolapse |
ORPHA:284984 |
| Loeys-Dietz Syndrome 3 |
|
Left ventricular hypertrophy, Cystocele, Uterine prolapse |
OMIM:613795 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
