Major Depressive Disorder |
|
Depression |
OMIM:608516 |
Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Gilles De La Tourette Syndrome |
|
Aggressive behavior, Phonic tics, Compulsive behaviors, Attention deficit hyperactivity disorder,... |
OMIM:137580 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Severe Primary Trimethylaminuria |
|
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... |
ORPHA:468726 |
Congenital Generalized Lipodystrophy |
|
Adipose tissue loss, Proportionate tall stature, Hepatic steatosis, Hepatomegaly, Insulin resista... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Trichotillomania |
|
Hair-pulling, Compulsive behaviors |
OMIM:613229 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... |
OMIM:608709 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Ambiguous ... |
ORPHA:90791 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Cidec-Related Familial Partial Lipodystrophy |
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Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Familial Hyperprolactinemia |
|
Osteopenia, Hemorrhagic ovarian cyst, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility... |
ORPHA:397685 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
Autism, Susceptibility To, 20 |
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Impaired social interactions |
OMIM:618830 |
Brunner Syndrome |
|
Self-injurious behavior, Low frustration tolerance, Impulsivity, Aggressive behavior |
OMIM:300615 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Self-injurious behavior, Attention deficit hyperactivity disorder |
OMIM:607417 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Müllerian Aplasia And Hyperandrogenism |
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Thick eyebrow, Acne, Renal agenesis, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Cle... |
ORPHA:247768 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali... |
ORPHA:90795 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Increased sarcoplasmic glycogen... |
ORPHA:264580 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Hyperthyroidism, Precocious puberty, Hepatitis, Renal phosphate wasting,... |
ORPHA:562 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... |
OMIM:228300 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Microcephaly 9, Primary, Autosomal Recessive |
|
Impulsivity, Aggressive behavior, Self-injurious behavior, Compulsive behaviors, Motor tics |
OMIM:614852 |
Androgen Insensitivity Syndrome |
|
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... |
OMIM:300068 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Ambig... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ... |
ORPHA:79083 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Male hypogonadism, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Absence of secondar... |
ORPHA:432 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Sensorineural hearing impairment, Hyperinsulinemi... |
ORPHA:3085 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612964 |
Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Diabetes mellitus, Telangiectasia of the skin, Polycystic ... |
ORPHA:100 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Dysmenorrhea, Ketotic hypoglycemia, Increased... |
ORPHA:79240 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Small for gestational age, Autoimmunity, Abnormality of t... |
ORPHA:275555 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkalin... |
OMIM:615363 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:2348 |
Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic ... |
ORPHA:91 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... |
ORPHA:2298 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal endometrium morphology, Abnormal circulating... |
ORPHA:314478 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Co... |
ORPHA:401901 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Abnormal dental morphology, Cryptorchidism, Tooth malposition, Obesity, Hypo... |
ORPHA:85274 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ... |
OMIM:612526 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... |
OMIM:615381 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Eczema, Cleft upper lip, Thrombocytopenia, Cleft palate, Hydrocele testis, Incre... |
ORPHA:96181 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Incre... |
ORPHA:785 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... |
ORPHA:280365 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Compulsive behaviors, Limb dystonia, Par... |
ORPHA:216873 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Hepatic Adenomas, Familial |
|
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Aggressive behavior, Inability to walk, Inappropriate laughter, Emotional lability... |
OMIM:616269 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Polyembryoma |
|
Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Abdominal mass, ... |
ORPHA:180229 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Cardiomyopathy, Umbilical hernia, Elevated hepatic transaminase,... |
OMIM:608594 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
N-Acetylaspartate Deficiency |
|
Short attention span, Broad-based gait, Unsteady gait, Truncal ataxia, Abnormal repetitive manner... |
OMIM:614063 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Onychauxis, Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, P... |
ORPHA:769 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Umbilical hernia, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Donohue Syndrome |
|
Hypermelanotic macule, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Gin... |
OMIM:246200 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Brushfield spots, Cryptorchidism, Jaundice, Optic ... |
OMIM:214110 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:617270 |
Aarskog-Scott Syndrome |
|
Inguinal hernia, Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral crypt... |
OMIM:305400 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Elevated circulating luteinizi... |
OMIM:612310 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Self-biting |
OMIM:619988 |
Galactokinase Deficiency |
|
Speech apraxia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Sm... |
ORPHA:79237 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Acne, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia... |
ORPHA:3000 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity, Thick eyebrow |
OMIM:309585 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Thrombocythemia 3 |
|
Thrombocytosis |
OMIM:614521 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased... |
OMIM:620085 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Hyperpigmentation of the skin, Adrenal hypoplasia, Thrombocytopenia, Hypo... |
OMIM:619151 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Aggressive behavior, Limb ataxia, Gait ataxia, Depression, Gait disturbance, Difficulty... |
ORPHA:98764 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Cleft palate, Hypopla... |
OMIM:601076 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Self-injurious behavior, Steppage gait |
OMIM:613641 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Thrombocytopenia, Micronodul... |
OMIM:606003 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Clitoral hypoplasia, Accessory spleen, Elevated circulating luteinizing hormone level, Highly arc... |
OMIM:618419 |
Seckel Syndrome 5 |
|
Hypospadias, Selective tooth agenesis, Cryptorchidism, Cleft palate, Oligodontia, High palate, Hy... |
OMIM:613823 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Satoyoshi Syndrome |
|
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Frontal balding, Oligozoospermia... |
OMIM:602668 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Bangstad Syndrome |
|
Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, EEG abnormali... |
ORPHA:1227 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pigmented... |
OMIM:610475 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Eczema, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of... |
ORPHA:3055 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Dysphagia, Depression, Bradykinesia, Dystonia, ... |
OMIM:128235 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Hyperpigmentation of the skin, Increased circulat... |
OMIM:202010 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Congenital Fibrinogen Deficiency |
|
Decreased testicular size, Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Abnormality ... |
ORPHA:335 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Brushfield spots, Cryptor... |
ORPHA:912 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Large for gestational age, Reactive hypoglycemia, Episod... |
ORPHA:324575 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:610717 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, Ab... |
ORPHA:85443 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Abnormality... |
ORPHA:400 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia |
OMIM:615615 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Myocardial infarction, Sudden cardiac death, Os... |
OMIM:610947 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia, Diminished ability to concentrate, Attention deficit hyperactivity disorder |
OMIM:301033 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615983 |
Sandhoff Disease, Adult Form |
|
Tremor, Dysphagia, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, S... |
ORPHA:309169 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Seckel Syndrome 1 |
|
Pancytopenia, Hypospadias, Dental crowding, Selective tooth agenesis, Cryptorchidism, Elbow flexi... |
OMIM:210600 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian insufficien... |
ORPHA:3464 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Tremor, Unsteady gait, Dysphagia, Frequent falls |
OMIM:615945 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity, Abnormality of the kidney |
OMIM:615988 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... |
OMIM:612126 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ... |
OMIM:613877 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy... |
OMIM:617780 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... |
OMIM:616393 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Thin vermilion border, Hypogonadism, Sparse body hair, Failure t... |
ORPHA:261483 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Onychauxis, Precocious puberty, Insulin-resistant diabetes mellitus, L... |
OMIM:262190 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Prolonged bleeding following procedure, Hypoglycemic seizures, Hepatic steatosis, Hyp... |
ORPHA:79259 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,... |
OMIM:615993 |
Satoyoshi Syndrome |
|
Alopecia, Malabsorption, Diarrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase, Alo... |
OMIM:600705 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ... |
ORPHA:71529 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... |
ORPHA:3282 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Loss of ambulation, Thr... |
OMIM:615010 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... |
OMIM:618187 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Congenital sensori... |
OMIM:617872 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Renal cyst, High palate, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricuspid regurgitation, ... |
OMIM:614866 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Rudiger Syndrome |
|
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Short mandibular condyles, Primary amenorrhea |
OMIM:264270 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Flexion contracture, Babinski sign, Obesity, Spasti... |
OMIM:300055 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, H... |
ORPHA:276575 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Female infertility, Osteoporosis, Primary amenorrhea, Delayed pu... |
OMIM:300604 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, ... |
ORPHA:276580 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitu... |
OMIM:268020 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Cryptorchidism, Nephrotic syndrome, Hypertension, Type I diabetes mellitus, Nephropa... |
ORPHA:1192 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Sensorineural hearing impairment, Hyperinsulinemia, Obesity, Optic atrophy, ... |
ORPHA:791 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cleft lip, Obes... |
OMIM:300148 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Hypoplastic fifth toenail, Sparse scalp hair, Renal malrotation, Decre... |
OMIM:615866 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... |
OMIM:300869 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile py... |
ORPHA:449395 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hypoplasi... |
OMIM:154230 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... |
OMIM:618901 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Polycystic ovaries, Truncal obesity, High palate, Sparse hair, M... |
ORPHA:284180 |
Cednik Syndrome |
|
Proteinuria, Abnormality of the dentition, Congestive heart failure, Optic atrophy, Nephrotic syn... |
ORPHA:66631 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Cryptorchidism, Incre... |
ORPHA:163976 |
Luscan-Lumish Syndrome |
|
Shyness, Irregular menstruation, Advanced ossification of carpal bones, Obesity, Polycystic ovari... |
OMIM:616831 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Obesity, Absence ... |
OMIM:610628 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
C Syndrome |
|
Omphalocele, Hepatomegaly, Accessory oral frenulum, Cryptorchidism, Patent ductus arteriosus, Ren... |
OMIM:211750 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatocellular carcinoma, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomega... |
ORPHA:465508 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductu... |
OMIM:601186 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Conical tooth, Increased T cell count, Increased circulating IgG level, Inflammation of the large... |
ORPHA:98813 |
H Syndrome |
|
Histiocytosis, Hypertriglyceridemia, Diabetes mellitus, Recurrent fractures, Lipodystrophy, Micro... |
ORPHA:168569 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... |
ORPHA:171706 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Posteriorly rotated ears, Cry... |
ORPHA:2849 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased c... |
OMIM:615962 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Adrenal hypoplasia, High, narrow palate, Aminoaciduria, High palate, Intrahepatic biliary dysgene... |
OMIM:214100 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism, High palate |
OMIM:300428 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesi... |
OMIM:619737 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Cognitive... |
OMIM:616267 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Poor fine motor coordination, ... |
ORPHA:254531 |
Distal Deletion 10P |
|
Hypoplasia of penis, Abnormal fingernail morphology, Hypoplastic toenails, Cryptorchidism, Non-mi... |
ORPHA:1580 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, M... |
ORPHA:347 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Agitation, Hemiplegia |
OMIM:141500 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesity, Dow... |
ORPHA:85282 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus, Compulsive behaviors |
OMIM:159900 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Vomiting, Gastroesophageal reflux, Nephropa... |
ORPHA:85450 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Parkinson Disease 22, Autosomal Dominant |
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Resting tremor, Restless legs, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Pa... |
OMIM:616710 |
Spermatogenic Failure 7 |
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Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 63 |
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Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Manganese Poisoning |
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Confusion, Akinesia, Aggressive behavior, Hypersexuality, Depression, Emotional lability, Irritab... |
ORPHA:306682 |
Spermatogenic Failure 39 |
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Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Ataxia, Elevated circulating creatine kinase concentration, Mental deterioration, Limb ataxia, Ga... |
OMIM:208920 |
Premature Ovarian Failure 3 |
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Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Spermatogenic Failure 10 |
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Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
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Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Fibrous Dysplasia Of Bone |
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Thyroid carcinoma, Patchy reduction of bone mineral density, Cortical irregularity, Hyperthyroidi... |
ORPHA:249 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Impaired social interactions |
OMIM:606053 |
Bardet-Biedl Syndrome 4 |
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External genital hypoplasia, Abnormality of the kidney, Abnormality of the dentition, Cryptorchid... |
OMIM:615982 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Impaired social interac... |
ORPHA:329249 |
Premature Ovarian Failure 9 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Congenital Disorder Of Glycosylation, Type Iip |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Small scrotum, Sparse s... |
ORPHA:85201 |
Alstrom Syndrome |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Hepatic steatosis, Hypert... |
OMIM:203800 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
Spinocerebellar Ataxia Type 28 |
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Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... |
ORPHA:101109 |
Immunodeficiency 27A |
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Anorexia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis |
OMIM:209950 |
Megalencephaly |
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Macroorchidism, Truncal obesity, Long penis |
ORPHA:2477 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
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Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Igg4-Related Submandibular Gland Disease |
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Cholangitis, Xerostomia, Increased circulating IgG level, Abnormal salivary gland morphology, Sia... |
ORPHA:449432 |
Ovarian Dysgenesis 4 |
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Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Inguinal hernia, Tented upper lip vermilion, Hypospadias, Recurrent pneumonia, Cleft palate, Furr... |
OMIM:616449 |
Diamond-Blackfan Anemia 18 |
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Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Macroorchidism, Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Premature Ovarian Failure 17 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Spermatogenic Failure, X-Linked, 6 |
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Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage... |
OMIM:301101 |
Spermatogenic Failure 1 |
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Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Folate Malabsorption, Hereditary |
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Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Athetosis, Neutropenia,... |
OMIM:229050 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
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Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, De... |
OMIM:615559 |
46,Xx Gonadal Dysgenesis |
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Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Borjeson-Forssman-Lehmann Syndrome |
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Cryptorchidism, Obesity, Hypoplasia of the prostate, Delayed puberty, Micropenis |
OMIM:301900 |
Ataxia-Pancytopenia Syndrome |
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Pancytopenia, Ataxia, Unsteady gait, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Ane... |
OMIM:159550 |
Isochromosomy Yq |
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Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
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Macroorchidism, Thick lower lip vermilion, Obesity |
OMIM:300238 |
Clark-Baraitser syndrome |
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Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... |
OMIM:300602 |
Spermatogenic Failure 41 |
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Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Leptin Deficiency Or Dysfunction |
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Decreased serum leptin, Recurrent pneumonia, Obesity, Primary amenorrhea, Hypogonadism, Micropeni... |
OMIM:614962 |
Cowden Syndrome 1 |
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Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
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Osteopenia, Omphalocele, Premature thelarche, Osteolysis involving bones of the upper limbs, Oste... |
ORPHA:371428 |
Spinocerebellar Ataxia 43 |
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Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Sheehan Syndrome |
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Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... |
ORPHA:3044 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Macroorchidism, Congestive heart failure, Obesity |
ORPHA:3077 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
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Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spinocerebellar Ataxia Type 15/16 |
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Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Atkin-Flaitz Syndrome |
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Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip vermilion, Macro... |
ORPHA:1193 |
46,Xx Sex Reversal 1 |
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Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:400045 |
Spastic Paraplegia-Precocious Puberty Syndrome |
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Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Pancytopenia, Microcytic anemia, Hepatosplenomegaly, Thrombocytosis, Sterile abscess |
OMIM:604416 |
Multiple Symmetric Lipomatosis |
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Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp... |
ORPHA:2398 |
Lipodystrophy, Familial Partial, Type 6 |
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Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Osteolysis |
ORPHA:494 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
49,Xyyyy Syndrome |
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Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... |
ORPHA:99330 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Werner Syndrome |
|
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Myocardial infarction, Joint stiffnes... |
ORPHA:902 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Melioidosis |
|
Shock, Brain abscess, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Abnormality of ... |
ORPHA:31202 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Attention deficit hyperactivity disorder, Hyperammonemia, Increased C-pepti... |
OMIM:620211 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Hand tremor, Recurrent hy... |
ORPHA:79299 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Choreoacanthocytosis |
|
Bradyphrenia, Short attention span, Self-mutilation of tongue and lips due to involuntary movemen... |
ORPHA:2388 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia, Decreased cirrculating antimullerian... |
OMIM:261550 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Osteoporosis, Increased susceptibi... |
ORPHA:189427 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... |
OMIM:618723 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Falls, Dystonia, Mental dete... |
ORPHA:240085 |
17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Macro... |
ORPHA:139474 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidros... |
ORPHA:276556 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Hig... |
ORPHA:485405 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Smooth philtrum, Absent eyebrow, High, narrow palate, Optic atrophy, Wide mouth, Abnormal upper l... |
ORPHA:2707 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Decreased fertility, Obesity, Low posterior hairline, High palate, Hypogo... |
ORPHA:2233 |
Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:609441 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Multiple joint contractures, Lack of facial subcutaneous fat, Selective tooth agenesis, Microcyti... |
ORPHA:2959 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Hypospadias, Heart block, Cryptorchidism, Narrow mouth, Cleft ... |
OMIM:617063 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... |
ORPHA:3261 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... |
ORPHA:2232 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplan... |
OMIM:610644 |
Leprechaunism |
|
Rectal prolapse, Nephrocalcinosis, Increased circulating renin level, Hepatomegaly, Enlarged ovar... |
ORPHA:508 |
Spermatogenic Failure 31 |
|