| Ovarian Dysgenesis 2 |
|
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... |
OMIM:300510 |
| Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
| Ovarian Dysgenesis 9 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... |
OMIM:619665 |
| Premature Ovarian Failure 18 |
|
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... |
OMIM:619203 |
| Premature Ovarian Failure 7 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... |
OMIM:612964 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Male hypogonadism, Decreased testicular size, Ambiguous genitalia, Polycystic ovaries |
ORPHA:393 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:618117 |
| Premature Ovarian Failure 6 |
|
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... |
OMIM:612310 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Female infertility, Irregular menstruation, Premature ovarian insufficiency |
OMIM:619245 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
| Familial Hyperprolactinemia |
|
Menorrhagia, Infertility, Hemorrhagic ovarian cyst, Oligomenorrhea, Amenorrhea, Female hypogonadism |
ORPHA:397685 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Premature Ovarian Failure 9 |
|
Amenorrhea, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:615724 |
| Premature Ovarian Failure 17 |
|
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, D... |
OMIM:619146 |
| Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... |
OMIM:618723 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... |
OMIM:614841 |
| Perrault Syndrome 6 |
|
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... |
OMIM:617565 |
| 46,Xy Sex Reversal 11 |
|
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... |
OMIM:273250 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Testicular dysgenesis, Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism |
ORPHA:242 |
| Functioning Gonadotropic Adenoma |
|
Oligospermia, Abnormal prolactin level, Increased serum testosterone level, Abnormality of the me... |
ORPHA:91348 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... |
ORPHA:90796 |
| Premature Ovarian Failure 2B |
|
Primary amenorrhea, Premature ovarian insufficiency, Delayed puberty |
OMIM:300604 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... |
ORPHA:90301 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired distal proprioception, Steppage gait, Impaired vibration sensation in the lower limbs, A... |
ORPHA:94124 |
| Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Primary amenorrhea, Premature ovarian insufficiency, Increased circulating gona... |
OMIM:615723 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... |
ORPHA:168563 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Abnormality of the ovary, Decreased testicular size |
ORPHA:1875 |
| Gonadoblastoma |
|
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... |
ORPHA:206484 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Distal sensory impairment, Ataxia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
| Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Hypoplasia of the uterus |
OMIM:617690 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Testicular microlithiasis, Secondary amenorrhea, Abnormality of the Leydig cells, Androgen insuff... |
OMIM:228300 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Estrogen Resistance Syndrome |
|
Absence of pubertal development, Absence of secondary sex characteristics, Increased circulating ... |
ORPHA:785 |
| Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Hepatomegaly, Microcytic anemia, Cataract, Broad-based gait, Hypoalbuminemia |
OMIM:618805 |
| 46,Xy Sex Reversal 3 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... |
OMIM:612965 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Premature ovaria... |
OMIM:611548 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Hepatomegaly, Splenomegaly, Ataxia, Inability to walk, Cataract, Hemolytic anemia |
OMIM:608885 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... |
OMIM:614837 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Premature Ovarian Failure 10 |
|
Elevated circulating follicle stimulating hormone level, Azoospermia, Hypoplasia of the ovary, Pr... |
OMIM:612885 |
| Estrogen Resistance |
|
Hyperinsulinemia, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:615363 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Leydig Cell Hypoplasia |
|
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... |
ORPHA:755 |
| Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Polycystic ovaries, Decreased fertility |
ORPHA:1643 |
| Perrault Syndrome 4 |
|
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... |
OMIM:615300 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, ... |
ORPHA:280356 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... |
ORPHA:983 |
| Ovarian Fibrothecoma |
|
Abnormality of the endometrium, Abnormality of the ovary, Increased serum testosterone level, Met... |
ORPHA:314478 |
| Hypersecretion Of Adrenal Androgens, Familial |
|
Adrenal overactivity, Increased circulating androgen concentration, Amenorrhea, Premature pubarche |
OMIM:145295 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Choreoathetosis, Distal sensory impairment, Tremor, Ataxia, Hypercholesterolemia, Trunc... |
OMIM:208920 |
| Complete Androgen Insensitivity Syndrome |
|
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... |
ORPHA:99429 |
| Hydatidiform Mole |
|
Hyperthyroidism, Spontaneous abortion, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... |
OMIM:267700 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Craniosynostosis, Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... |
OMIM:616050 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... |
ORPHA:1916 |
| Abetalipoproteinemia |
|
Impaired proprioception, Rod-cone dystrophy, Hypotriglyceridemia, Abnormality of retinal pigmenta... |
ORPHA:14 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... |
ORPHA:2138 |
| 46,Xy Sex Reversal 7 |
|
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... |
OMIM:233420 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Decreased skull ossification, Abnormal cardiac septum morphology, Th... |
ORPHA:3319 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... |
ORPHA:90793 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Partial Androgen Insensitivity Syndrome |
|
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... |
ORPHA:90797 |
| Alg6-Cdg |
|
Retinal degeneration, Rod-cone dystrophy, Ataxia, Hypoalbuminemia, Decreased LDL cholesterol conc... |
ORPHA:79320 |
| Immunodeficiency 27A |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocy... |
OMIM:209950 |
| Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... |
OMIM:619613 |
| Tetrasomy X |
|
Premature ovarian insufficiency |
ORPHA:9 |
| Leishmaniasis |
|
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbuminemia, ... |
ORPHA:507 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Premature ovarian insufficiency |
ORPHA:2278 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Abnormal heart morphology, Anemia, Abnormal cardiac septum morphology, Hypoalbumine... |
OMIM:608104 |
| Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Osteoporosis, Hypo... |
ORPHA:398063 |
| Xq27.3Q28 Duplication Syndrome |
|
Hypogonadism, Cryptorchidism, Decreased testicular size, Premature ovarian insufficiency |
ORPHA:261483 |
| Uterine Anomalies |
|
Abnormality of the uterus, Bicornuate uterus |
OMIM:192000 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
| 46,Xy Sex Reversal 1 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level, Gonadoblastoma, Abnormalit... |
OMIM:400044 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Dystonia, Gait imbalance, Choreoathetosis, Elevated circulating creatine kinase ... |
ORPHA:64753 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Hypothalamic gonadotropin-releasi... |
OMIM:618841 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Menorrhagia, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Abnormalit... |
ORPHA:2795 |
| Ring Chromosome Y Syndrome |
|
Hypospadias, Unilateral cryptorchidism, Bifid scrotum, Streak ovary, Abnormality of the male geni... |
ORPHA:261529 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Anemia, Increased total bilirubin, Splen... |
OMIM:603553 |
| Aromatase Deficiency |
|
Macroorchidism, postpubertal, Type II diabetes mellitus, Ambiguous genitalia, female, Female infe... |
ORPHA:91 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Retinal degeneration, Torticollis, Chorea, Anemia, Decreased serum iron, Atax... |
OMIM:604290 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Increased circulating gonadotropin ... |
ORPHA:64739 |
| Nephrotic Syndrome, Type 14 |
|
Hypoglycemia, Ataxia, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Premature ovarian insufficiency |
OMIM:615889 |
| 46,Xx Sex Reversal 2 |
|
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... |
OMIM:278850 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hy... |
ORPHA:158061 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Osteopor... |
OMIM:616000 |
| Chylomicron Retention Disease |
|
Hypocholesterolemia, Impaired vibratory sensation, Hypotriglyceridemia, Hypoalbuminemia, Decrease... |
OMIM:246700 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... |
ORPHA:432 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Increased serum testosterone level, Increased circulating androste... |
ORPHA:90795 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Polycystic ovaries, Hyperinsulinemia, Diabetes mellitus |
ORPHA:79084 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus |
OMIM:277000 |
| Precocious Puberty, Male-Limited |
|
Precocious puberty in males, Decreased testicular size |
OMIM:176410 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Secondary amenorrhea, Type II diabetes mellitus, Polycystic ovaries, Hypergonadotropic hypogonadi... |
ORPHA:3085 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoglycemia, Hypoalbuminemia |
OMIM:617156 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Testicular Agenesis |
|
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... |
ORPHA:325124 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased ... |
ORPHA:79085 |
| Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
| Familial Male-Limited Precocious Puberty |
|
Oligospermia, Macroorchidism, Long penis, Male infertility, Precocious puberty |
ORPHA:3000 |
| Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... |
ORPHA:2298 |
| 46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Abnormality of the urethra, Ambiguous genitalia, Cryp... |
ORPHA:752 |
| Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia, Drusen |
ORPHA:54370 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... |
ORPHA:247768 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Long penis, Insulin-resistant diabetes mellitus, Enlarged ova... |
ORPHA:769 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neutropenia, Iron deficiency anemia, Double outlet right ventricle, H... |
ORPHA:1667 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Amenorrhea, Premature ovarian insufficiency |
OMIM:619425 |
| Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
| Polyembryoma |
|
Macroorchidism, Increased serum testosterone level, Increased serum serotonin, Abnormality of the... |
ORPHA:180229 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... |
ORPHA:3130 |
| Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... |
ORPHA:754 |
| Rudiger Syndrome |
|
Bicornuate uterus, Micropenis, Ovarian cyst |
OMIM:268650 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... |
ORPHA:52901 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Paresthesia, Megaloblasti... |
OMIM:261000 |
| Refractory Anemia With Excess Blasts |
|
Leukocytosis, Retinal hemorrhage, Abnormal mean corpuscular volume, Abnormal circulating albumin ... |
ORPHA:86839 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
| 46,Xx Gonadal Dysgenesis |
|
Secondary amenorrhea, Streak ovary, Aplasia/hypoplasia of the uterus, Increased circulating gonad... |
ORPHA:243 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hepatomegaly, Neutropenia, Leukopenia, Anemia, Spleno... |
OMIM:617303 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Infertility, Female external genitalia in individual with 46,XY karyo... |
OMIM:264300 |
| Congenital Enterovirus Infection |
|
Myocarditis, Leukocytosis, Neutropenia, Pericardial effusion, Leukopenia, Anemia, Cardiomyopathy,... |
ORPHA:292 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:613090 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
| Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... |
ORPHA:199310 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hypercalcemia, Paresthesia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Osteope... |
OMIM:601678 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
| Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Anemia, Abnormal hemo... |
ORPHA:848 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Dystonia, Hepatomegaly, Pericarditis, Pericardial effusion, Osteoporosis, Anemia, ... |
OMIM:619487 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea, Abnormality of the e... |
OMIM:158330 |
| Eosinophilic Gastroenteritis |
|
Leukocytosis, Anemia, Hypoalbuminemia, Eosinophilia, Elevated circulating C-reactive protein conc... |
ORPHA:2070 |
| Familial Pseudohyperkalemia |
|
Hyperkalemia, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic anemia, Retic... |
ORPHA:90044 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Hepatomegaly, Pericardial effusion, Hypocholesterolemia, Cardiomyopathy, Rod-cone... |
OMIM:212065 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Conjunctival icterus, Hypoalbuminemia, Abnormal conju... |
ORPHA:529799 |
| Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Streak ovary, Gonadoblastoma, Increased circulat... |
ORPHA:347 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Dystonia, Methylmalonic acidemia, Increased mean corpuscu... |
OMIM:277410 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Polycystic ovaries, Diabetes mellitus |
OMIM:608709 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hypothyroidism, Male hypogonadism, Premature ovarian insufficiency |
OMIM:618625 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hypokalemia, Rickets, Hepatosplenomegaly, Reticulocytosis, Decreased mean corpuscular volume, Hem... |
OMIM:611590 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Retinal degeneration, Acanthocytosis, Rod-cone dystrophy, Ataxia, Decreased LDL cholesterol conce... |
OMIM:615558 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:602522 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hepatosplenomegaly, Hyperthreoninemia, Hypermethioninemia, Dec... |
ORPHA:247598 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased ... |
ORPHA:435651 |
| Birk-Landau-Perez Syndrome |
|
Hyperkalemia, Dystonia, Choreoathetosis, Ataxia, Difficulty walking |
OMIM:617595 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... |
ORPHA:64743 |
| Bangstad Syndrome |
|
Increased circulating cortisol level, Polycystic ovaries, Abnormal testis morphology, Abnormality... |
ORPHA:1227 |
| Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Pericardial effusion, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector ... |
ORPHA:90362 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Oligospermia, Hypospadias, Adrenal hyperplasia, Increased circulating progesterone, Fused labia m... |
ORPHA:95699 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Thrombocytosis, Hypoproteinemia, Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia |
OMIM:226300 |
| Citrullinemia Type Ii |
|
Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Hyperlipidemia, Tremor, H... |
ORPHA:247585 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hy... |
ORPHA:540 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Elevated transferrin satur... |
OMIM:606069 |
| Bartter Syndrome, Type 2, Antenatal |
|
Paresthesia, Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Osteopenia, Hypomagnes... |
OMIM:241200 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... |
ORPHA:251510 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
| Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:66628 |
| Leukoencephalopathy With Vanishing White Matter |
|
Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Decreased circulating ... |
OMIM:603896 |
| Aceruloplasminemia |
|
Torticollis, Increased circulating ferritin concentration, Diabetes mellitus, Abnormality of reti... |
ORPHA:48818 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Prima... |
OMIM:604367 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Hemolytic anemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Premature ovarian insufficiency |
ORPHA:126 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus |
OMIM:614851 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Increased circulating gonadotropin level, Female infertility, Premature ovarian insuf... |
OMIM:110100 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency |
OMIM:618124 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... |
OMIM:308750 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Decreased ... |
ORPHA:435660 |
| Alg1-Cdg |
|
Abnormal heart morphology, Cardiomyopathy, Hypoalbuminemia |
ORPHA:79327 |
| Ménétrier Disease |
|
Hypoproteinemia, Hypochromic microcytic anemia, Hypoalbuminemia |
ORPHA:2494 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... |
ORPHA:179494 |
| Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Insulin-resistant diabetes mellitus, Secondary amenorrhea, Polycystic ovaries, Hypergonadotropic ... |
OMIM:268020 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Gait disturbance, Paresthesia, Hypokalemia, Elevated circulating crea... |
ORPHA:682 |
| Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Isosexual precocious puberty, Elevated circulatin... |
OMIM:176400 |
| Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia |
OMIM:601076 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... |
OMIM:308700 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hypertrophic cardiomyopathy, Optic atrophy, Abnormality of retinal pigmentation, Leukopenia, Abno... |
ORPHA:505248 |
| Leprechaunism |
|
Hepatomegaly, Central hypothyroidism, Long penis, Enlarged ovaries, Labial hypertrophy, Clitoral ... |
ORPHA:508 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... |
OMIM:241080 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal penis morphology, Goiter, Abnormality of the menstrual cycle, Polycystic ovaries, Neopla... |
ORPHA:457059 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Constrictive pericarditis, Anemia, Hypoalbuminemia, Abnormal pericardium morphology |
ORPHA:67 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Mpi-Cdg |
|
Hepatomegaly, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Decreased circu... |
ORPHA:453533 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
| Avian Influenza |
|
Leukopenia, Elevated circulating creatine kinase concentration, Lymphopenia, Hypoalbuminemia, Thr... |
ORPHA:454836 |
| Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Primary amenorrhea, Gonadal dysgenesis |
OMIM:136680 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abnormal circulating protein concentration, Hy... |
ORPHA:103910 |
| Al Amyloidosis |
|
Hypertrophic cardiomyopathy, Abnormal cardiac ventricle morphology, Hepatomegaly, Abnormal heart ... |
ORPHA:85443 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Hepatomegaly, Hypoglycemia, Hypokalemia, Type II dia... |
ORPHA:88673 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... |
ORPHA:3464 |
| Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Clit... |
ORPHA:528 |
| Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Methemoglobinemia, Anemia |
OMIM:613977 |
| Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Cervix cancer, Enlarged polycystic ovaries |
ORPHA:2869 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Hyperchloremia |
OMIM:614492 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
| Adrenal Hypoplasia, Congenital |
|
Oligospermia, Decreased circulating aldosterone level, Adrenal insufficiency, Azoospermia, Hypogo... |
OMIM:300200 |
| Classic Galactosemia |
|
Postural tremor, Gait disturbance, Dystonia, Hepatomegaly, Gait imbalance, Hypoglycemia, Osteopor... |
ORPHA:79239 |
| Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Steppage gait, Bradykinesi... |
OMIM:613280 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:240200 |
| Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor |
OMIM:609153 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Hypoglycemia, Radial club hand, Leukopenia, Anemia, Lymphopenia, Thro... |
OMIM:617053 |
| Alg12-Cdg |
|
B lymphocytopenia, Hyponatremia, Biventricular hypertrophy, Hypocholesterolemia, Recurrent hypogl... |
ORPHA:79324 |
| Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Marburg Hemorrhagic Fever |
|
Conjunctival hyperemia, Hyperamylasemia, Pericarditis, Hypoglycemia, Leukopenia, Hypokalemia, Neu... |
ORPHA:99826 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... |
ORPHA:37042 |
| Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Hypoalbuminemia |
OMIM:616730 |
| Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Lacrimal gland aplasia, Oligomenorrhea, Streak ovary, Elevated circulating ... |
ORPHA:572333 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Hypospadias, Abnormal vagina morphology, Streak ovary, Gonadoblastoma, Abnormality of the uterus,... |
OMIM:194072 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy, Corneal erosion, Decreased serum zinc, Anemia, Decreased serum iron, Abno... |
ORPHA:89842 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Premature ovarian insufficiency, Splenomegaly |
ORPHA:100025 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Periostosis, Hyperostosis, Hypoalbuminemia |
OMIM:614441 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... |
ORPHA:2169 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hepatomegaly, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circulating cre... |
ORPHA:94093 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Secondary growth hormone deficiency, Abse... |
ORPHA:2235 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:232700 |
| Juvenile Polyposis Syndrome |
|
Anemia, Hypokalemia, Hypoalbuminemia |
OMIM:174900 |
| Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Premature ovarian insufficiency |
ORPHA:2928 |
| Refsum Disease, Classic |
|
Retinal degeneration, Cardiomegaly, Cardiomyopathy, Rod-cone dystrophy, Ataxia, Cataract, Elevate... |
OMIM:266500 |
| Abetalipoproteinemia |
|
Retinal degeneration, Acanthocytosis, Abetalipoproteinemia, Ataxia, Retinopathy |
OMIM:200100 |
| Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Hyponatremia, Hypokalemia, Hypochloremia, Hypomagnesemia, Increased circulating renin level |
ORPHA:89938 |
| Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Hepatomegaly, Erythroid hyperplasia, Elevated hepa... |
ORPHA:231222 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Dilated cardiomyopathy, Hepatomegaly, Abnormal cardiomyocyte morphology, Hepatosplenomegaly, Hypo... |
ORPHA:367 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, Iris hypopigmentation, Cataract, Thrombocytopenia |
ORPHA:67048 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Increased mean corpuscular v... |
OMIM:612561 |
| Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating... |
ORPHA:79096 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Bifid scrotum, Enlarged ovaries, Bicornuate uterus, Thyroglossal cyst, Cryptorchidis... |
ORPHA:2745 |
| Androgen Insensitivity, Partial |
|
Infertility, Bifid scrotum, Azoospermia, Absent vas deferens, Hypogonadism, Micropenis, Cryptorch... |
OMIM:312300 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Abnormal... |
ORPHA:88618 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hypoglycemia, Hyperalaninemia, Hypoalbuminemia, Chori... |
OMIM:618329 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Adrenocorticotropic hormone deficiency, Oligomenorrhea, Pituitary hypothyroidism, Impotence, Hypo... |
ORPHA:91354 |
| Senior-Loken Syndrome |
|
Premature ovarian insufficiency |
ORPHA:3156 |
| Boucher-Neuhauser Syndrome |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration |
OMIM:215470 |
| Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Increased circulating myelocyte count, Elevated circulating creatine kinase concentr... |
ORPHA:36234 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypertrophic cardiomyopathy, Dystonia, Optic atrophy, Hypoglycemia, Hyperalaninemia |
OMIM:614702 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... |
ORPHA:90794 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypoglycemia, Paresthesia, Dysmetria, Osteoporosis, Intention tremor, Ataxia, Cataract, Microcornea |
ORPHA:48431 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Dystonia, Hypoplasia of the iris, Ataxia, Cataract, Hypoalbuminemia, Opacification... |
OMIM:251300 |
| Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Osteopenia, ... |
OMIM:618849 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... |
ORPHA:289548 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Dilated cardiomyopathy, Gait imbalance, Hypoglycemia, Elevated circulating creatine kinase concen... |
OMIM:618120 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Preeclampsia |
|
Polycystic ovaries, Type I diabetes mellitus |
ORPHA:275555 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kin... |
OMIM:600649 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome, Ambiguous genitalia, Primary amenorrhea, Male pseudo... |
OMIM:202110 |
| Carnitine Deficiency, Systemic Primary |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Hypoglycemia, Endocardial fibroelastosis, Cardiomegaly... |
OMIM:212140 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Hypertrophic cardiomyopathy, Dystonia, Hepatomegaly, Hypoglycemia, Ataxia, Lethargy |
OMIM:246900 |
| Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
| Galactokinase Deficiency |
|
Hepatomegaly, Hepatosplenomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism... |
ORPHA:79237 |
| Ataxia-Telangiectasia |
|
Type II diabetes mellitus, Polycystic ovaries, Abnormal testis morphology, Diabetes mellitus, Apl... |
ORPHA:100 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypertrophic cardiomyopathy, Hyperamylasemia, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:619386 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
| Leigh Syndrome With Nephrotic Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:255249 |
| Hymen, Imperforate |
|
Hydrocolpos, Imperforate hymen, Amenorrhea, Hematocolpos |
OMIM:237100 |
| Amed Syndrome, Digenic |
|
Adrenal hypoplasia, Hypoplasia of the uterus |
OMIM:619151 |
| Galactosemia |
|
Secondary amenorrhea, Hepatomegaly, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... |
ORPHA:352 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Hepatomegaly, Hyperisoleucinemia, Hypoglycemia, Cardiomyopathy, Hyperammonemia, Ataxia, Elevated ... |
ORPHA:2394 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cherry red spot of the macula, Epiphyseal stippling, Dysmetria, Vacuolated lymphocy... |
OMIM:256550 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Oligospermia, Adrenal hyperplasia, Increased urinary cortisol level, Infertility, Oligomenorrhea,... |
ORPHA:786 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Pericardial effusion, Hyperactivity, Atrial septal defect, Hypoalbumin... |
OMIM:235510 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Paresthesia, Hypokalemia, Anemia, Hypomagnesemia, Cataract, Hypocalcemia |
OMIM:175500 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
| Propionic Acidemia |
|
Dystonia, Hepatomegaly, Neutropenia, Hypoglycemia, Osteoporosis, Anemia, Cardiomyopathy, Hypergly... |
OMIM:606054 |
| Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Craniosynostosis, Corneal opacity, Anemia, Hypoalbuminemia |
ORPHA:79396 |
| 46,Xx Sex Reversal 1 |
|
Hypospadias, True hermaphroditism, Sex reversal, Elevated circulating follicle stimulating hormon... |
OMIM:400045 |
| 46,Xy Sex Reversal 8 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Sex reversal, Cryptorchidism |
OMIM:614279 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Neonatal hypoglycemia, Hypoglycemia, Hypoalbu... |
OMIM:619055 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Pituitary Gigantism |
|
Type II diabetes mellitus, Increased serum insulin-like growth factor 1, Amenorrhea, Premature pu... |
ORPHA:99725 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypospadias, Increased serum testosterone level, Premature adrenarche, Ambiguous genitalia, femal... |
ORPHA:90791 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Cardi... |
OMIM:255120 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... |
ORPHA:79083 |
| Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Long penis, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, Clitoral hypertrophy, Pre... |
OMIM:262190 |
| Donohue Syndrome |
|
Long penis, Clitoral hypertrophy, Pancreatic islet-cell hyperplasia, Precocious puberty, Hyperins... |
OMIM:246200 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Unconjugated hyperbilirubinemia, Thin bony cortex, Hypoglycemia, Rickets, Anemia... |
OMIM:613658 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Dystonia, Retinal degeneration, Hypoglycemia, Choreoa... |
ORPHA:391428 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Streak ovary, Aplasia/hypoplasia of the uterus, Absence of secondary sex characteris... |
ORPHA:2232 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Cystinosis |
|
Gait disturbance, Hypokalemia, Rickets, Hypophosphatemia, Corneal opacity, Retinopathy, Type I di... |
ORPHA:213 |
| Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
| Addison Disease |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Generalized bone demineralization, ... |
ORPHA:85138 |
| Juvenile Polyposis Of Infancy |
|
Abnormal heart morphology, Refractory anemia, Anemia, Atrial septal defect, Hypoalbuminemia |
ORPHA:79076 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hypoglycemia, Hyperuricemia, Increa... |
ORPHA:95409 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level, Lethargy |
ORPHA:427 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Pericardial effusion, Hypomagnesemia, Hypertriglyceridemia, Hypoca... |
OMIM:618183 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
| Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... |
ORPHA:811 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Vaginal Atresia |
|
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... |
ORPHA:65681 |
| Distal Monosomy 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:98754 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Nephronophthisis 2 |
|
Hyperkalemia, Situs inversus totalis, Elevated circulating creatinine concentration, Enlarged kidney |
OMIM:602088 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:98793 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyp... |
ORPHA:42 |
| Galactosemia I |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism |
OMIM:230400 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
| Blackfan-Diamond Anemia |
|
Thrombocytosis, Developmental cataract, Elevated red cell adenosine deaminase level, Neutropenia,... |
ORPHA:124 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Athetosis, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin leve... |
OMIM:615474 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis |
ORPHA:722 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:177904 |
| Beta-Thalassemia Major |
|
Dilated cardiomyopathy, Hepatomegaly, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypoc... |
ORPHA:231214 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Splenomegaly, Diabetes mell... |
ORPHA:2348 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypoplastic labia minora, Premature adrenarche, Decreased inhibin B level, Anterior pituitary hyp... |
ORPHA:177901 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetes mellitus, Type I diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Hypospadias, Bifid scrotum, Ambiguous genitalia, female, Urogenital sinus anomaly, Ambiguous geni... |
ORPHA:1772 |
| Kennerknecht Syndrome |
|
Agonadism, Hypoplasia of the uterus |
OMIM:600908 |
| Cowden Syndrome |
|
Abnormal penis morphology, Goiter, Endometrial carcinoma, Adenoma sebaceum, Neoplasm of the thyro... |
ORPHA:201 |
| Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Osteoporo... |
ORPHA:231226 |
