| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
| Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
| Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
| 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 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 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
| Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
| 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 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| 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 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
| Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| 7P22.1 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:314034 |
| Caudal Appendage-Deafness Syndrome |
|
Cryptorchidism |
ORPHA:1123 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cryptorchidism |
OMIM:274205 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype |
OMIM:305700 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
| Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
| Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Chronic Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Abnor... |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Central apnea, Hemolytic anemia, Abnormal auditory evoked potentials, Conjunctival icterus, Abnor... |
ORPHA:529799 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism |
ORPHA:1074 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Urinary incontinence, Pulmonary embolism, Hyp... |
ORPHA:94093 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Rhabdoid Tumor |
|
Hypercalcemia, Respiratory insufficiency, Anemia, Hypertension, Hematuria, Neoplasm of the liver,... |
ORPHA:69077 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Renal insufficiency, Hypercalcemia, Anemia, Abnormal vagina morphology, Thrombocyto... |
ORPHA:2123 |
| Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Cataract, Ventricular arrhythmia, Autoimmune hypo... |
ORPHA:36913 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Polydactyly-Myopia Syndrome |
|
Cryptorchidism |
ORPHA:2917 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
| N Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2608 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Elevated hepatic transaminase, Respiratory dist... |
ORPHA:26793 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| X-Linked Intellectual Disability-Dandy-Walker Malformation-Basal Ganglia Disease-Seizures Syndrome |
|
Cryptorchidism |
ORPHA:1568 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... |
ORPHA:57777 |
| Drug-Induced Lupus Erythematosus |
|
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... |
ORPHA:231111 |
| Neonatal Lupus Erythematosus |
|
Prolonged QT interval, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Elevated he... |
ORPHA:398124 |
| Romano-Ward Syndrome |
|
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Abnormal autonomic nervous system ... |
ORPHA:101016 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Micropenis |
ORPHA:85274 |
| Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypertensive retinopathy, Hypercalcemia, Cerebral hemorrhage, Ele... |
ORPHA:94080 |
| Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, T... |
ORPHA:264675 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia |
ORPHA:2668 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Abnormal urine sebacic acid concentration, Hyp... |
OMIM:615751 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Splenomegaly, Dy... |
ORPHA:90041 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... |
ORPHA:45452 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:611783 |
| Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
| Jervell And Lange-Nielsen Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval |
OMIM:220400 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... |
OMIM:617907 |
| Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
| Hereditary Coproporphyria |
|
Hyponatremia, Dark urine, Tachycardia, Abnormal circulating porphyrin concentration, Respiratory ... |
ORPHA:79273 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism |
OMIM:309585 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85287 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Dyspnea, Tachypnea, Crescentic glomerulone... |
OMIM:616414 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Prolonged QT interval, Cataract, Elevated circulating creatine kinase concentration |
OMIM:615351 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Arrhythmia, Neutropenia |
OMIM:616949 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomag... |
OMIM:613845 |
| Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Hypoplasia of penis, Bilateral cryptorchidi... |
ORPHA:66634 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Prolonged QT interval, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulat... |
ORPHA:94090 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Dyspnea, Prim... |
OMIM:239200 |
| Hypophosphatasia |
|
Emphysema, Respiratory insufficiency, Hypercalcemia, Anemia |
ORPHA:436 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Primary Familial Polycythemia |
|
Epistaxis, Abnormal hemoglobin, Dyspnea, Cough, Polycythemia, Exertional dyspnea |
ORPHA:90042 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
| Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero... |
ORPHA:71275 |
| Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
| Timothy Syndrome |
|
Prolonged QT interval, Pneumonia, Ventricular tachycardia, Atrioventricular block, Bradycardia, H... |
OMIM:601005 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Intracranial hemorrhage, Hypoxemia, Increased hema... |
ORPHA:284227 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated ... |
OMIM:171420 |
| Long Qt Syndrome 10 |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... |
OMIM:611819 |
| Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Respiratory... |
ORPHA:449285 |
| Myofibrillar Myopathy 10 |
|
Increased QRS voltage, Prolonged QTc interval, Elevated circulating creatine kinase concentration |
OMIM:619040 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Ribose 5-Phosphate Isomerase Deficiency |
|
Increased level of ribose in urine, Increased level of ribitol in urine, Increased level of xylit... |
OMIM:608611 |
| Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-r... |
ORPHA:36238 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Acute Interstitial Pneumonia |
|
Elevated circulating C-reactive protein concentration, Crackles, Nonproductive cough, Dyspnea, Ta... |
ORPHA:79126 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... |
OMIM:620152 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia |
ORPHA:35710 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Nephrogenic diabetes insipidus, Functional abnormality of the b... |
ORPHA:223 |
| Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Adrenal hypoplasia, Decreased response to growth hormone stimulation ... |
OMIM:614732 |
| Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypercalciuria, Developmental cataract... |
OMIM:618440 |
| Long Qt Syndrome 14 |
|
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... |
OMIM:616247 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Increased ... |
ORPHA:90791 |
| Renal Hypoplasia, Bilateral |
|
Hyponatremia, Neonatal respiratory distress, Proteinuria, Cryptorchidism, Chronic kidney disease,... |
ORPHA:97362 |
| Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... |
OMIM:235200 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Hypernatremia, Megacystis, Polyuria |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Diabetes insipidus, Polyuria, Megacystis |
OMIM:304800 |
| Fetal Minoxidil Syndrome |
|
Cryptorchidism |
ORPHA:1918 |
| Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... |
ORPHA:90647 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Hyperkalemia, Hypo... |
ORPHA:171876 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Prolonged QT interval, Acute hepatic failure, D... |
ORPHA:71212 |
| Hao-Fountain Syndrome |
|
Cryptorchidism, Micropenis, Premature adrenarche |
OMIM:616863 |
| Long Qt Syndrome 1 |
|
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... |
OMIM:192500 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Proteinu... |
ORPHA:276621 |
| Atrial Fibrillation, Familial, 3 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... |
OMIM:607554 |
| Pheochromocytoma |
|
Tachycardia, Hypertensive retinopathy, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated ... |
OMIM:171300 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Cataract, Diabetes mellitus, Increased circulating ferritin concentration, Elevated... |
OMIM:606069 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
| 8p23.1 deletion syndrome |
|
Cryptorchidism |
DECIPHER:39 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Decreased circulatin... |
ORPHA:199299 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kinase concentration, C... |
ORPHA:466650 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Sudden c... |
OMIM:201475 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Thymic Neuroendocrine Tumor |
|
Neoplasm of the endocrine system, Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hyperca... |
ORPHA:97289 |
| Porphyria Variegata |
|
Hyponatremia, Elevated hepatic transaminase, Tachycardia, Neurogenic bladder, Abnormal circulatin... |
ORPHA:79473 |
| Hyperparathyroidism 4 |
|
Nephrolithiasis, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
| Colchicine Poisoning |
|
Hyponatremia, Respiratory distress, Renal insufficiency, Congestive heart failure, Leukocytosis, ... |
ORPHA:31824 |
| Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Apnea, Hypercalciuria... |
OMIM:241500 |
| Bowen-Conradi Syndrome |
|
Cryptorchidism |
ORPHA:1270 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Crackles, Congestive heart failure, Atriovent... |
ORPHA:60041 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Hypogonadism, Decreased testicular size |
ORPHA:261483 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Abno... |
ORPHA:251004 |
| Intellectual Developmental Disorder, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Myocardial infarction, Adrenal hypoplasi... |
ORPHA:95409 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556037 |
| Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia |
ORPHA:33111 |
| Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Prolonged QT interval, Cataract, Decreased response to growth hormone stimulation tes... |
ORPHA:94089 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Acute Lung Injury |
|
Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive prote... |
ORPHA:178320 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Abnormal pattern of ... |
ORPHA:3008 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism |
OMIM:218550 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Tachypnea, Methylmalonic aciduria, Hyp... |
OMIM:614857 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Cranial nerve compression, Adrenal pheochromocytoma, Positive regitine ... |
ORPHA:29072 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Car... |
OMIM:616878 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Abnormal external genitalia, Hyperkalemia, Abnormal circul... |
ORPHA:556030 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... |
OMIM:203400 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy |
OMIM:300376 |
| Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Apnea, Thrombocytopenia, C... |
OMIM:606054 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Neph... |
OMIM:145001 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:612370 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy... |
ORPHA:31826 |
| Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Decreased circulating parathyroid hormone level, Nephrolithiasis, Hyperc... |
OMIM:143880 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hypocalcemia, Anemia, Hepatomegaly |
ORPHA:100025 |
| Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... |
OMIM:300539 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Tetanus |
|
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Elevated u... |
ORPHA:3299 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... |
ORPHA:90068 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
| Ichthyosis, X-Linked |
|
Cryptorchidism, Testicular neoplasm |
OMIM:308100 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
| Long Qt Syndrome 11 |
|
Syncope, Prolonged QTc interval |
OMIM:611820 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
| Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Neonatal insulin-dependen... |
ORPHA:1667 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated hepatic transaminase, Hypercalcemia, Exercise-induced myoglobinuria, Chronic kidney dise... |
ORPHA:284426 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... |
OMIM:610628 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
| Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elev... |
OMIM:613327 |
| Mirage Syndrome |
|
Hyponatremia, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Thrombocytopenia, ... |
OMIM:617053 |
| Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Congestive heart failure, Hyper... |
ORPHA:682 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Elevated circulating acylcarnitine concentration, Tachypnea, Respiratory failu... |
OMIM:615838 |
| Jervell And Lange-Nielsen Syndrome 2 |
|
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... |
OMIM:612347 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron ... |
ORPHA:358 |
| Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Ketonuria, Elevated circulati... |
ORPHA:480864 |
| N Syndrome |
|
Cryptorchidism, Hypospadias |
OMIM:310465 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosp... |
OMIM:612526 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Tetralogy Of Fallot |
|
Cryptorchidism |
ORPHA:3303 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Reduced circulating growth hormone concentration, Hypernatremia, Hypoalbuminemia, Pulmonic stenosis |
OMIM:615508 |
| Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Myocarditis, Jaundice... |
ORPHA:549 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Left ventricular diastolic dysfun... |
OMIM:618052 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
| Von Hippel-Lindau Disease |
|
Hypertensive retinopathy, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocy... |
ORPHA:892 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
| Intellectual Developmental Disorder, X-Linked 103 |
|
Bilateral cryptorchidism, Micropenis |
OMIM:300982 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hypothyroidis... |
ORPHA:90065 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini... |
ORPHA:542323 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neoplasm of the ... |
ORPHA:97282 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis |
OMIM:239199 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Apnea, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Thr... |
ORPHA:391673 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Optic atrophy, Tachypnea, Respiratory... |
OMIM:614299 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Prolonged QT interval, Cataract, Hypergonadotropic hypogonadism, Decreased response t... |
ORPHA:79444 |
| Bardet-Biedl Syndrome 4 |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia |
OMIM:615982 |
| Methionine Malabsorption Syndrome |
|
Aminoaciduria, Tachypnea, Blue irides, Positive ferric chloride test |
OMIM:250900 |
| Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Ventricular tachycardia, Enuresis, Hypo... |
OMIM:263800 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin concentration, Re... |
ORPHA:100924 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough |
ORPHA:330012 |
| Malignant Hyperthermia Of Anesthesia |
|
Acute hepatic failure, Hypercapnia, High-output congestive heart failure, Myoglobinuria, Tachypne... |
ORPHA:423 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Tachypnea, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood u... |
OMIM:620085 |
| Alg8-Cdg |
|
Hyponatremia, Elevated hepatic transaminase, Cataract, Optic atrophy, Anemia, Retinopathy, Thromb... |
ORPHA:79325 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Hypercalcemia, Hypocalcemia, Developmental cataract |
ORPHA:557003 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... |
OMIM:177735 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Hematuria, Mic... |
ORPHA:54057 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Episodic tachypnea, Hyperammonemia, Elev... |
OMIM:615160 |
| Gordon Syndrome |
|
Cryptorchidism |
ORPHA:376 |
| Muscular Dystrophy, Cardiac Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Carnosinuria, Cardiomyopathy |
OMIM:309930 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia, Exertional dyspnea |
OMIM:250800 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
| 3Q13 Microdeletion Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1621 |
| Hypoadrenocorticism, Familial |
|
Hyponatremia, Apnea, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Mmep Syndrome |
|
Cryptorchidism |
ORPHA:3434 |
| Image Syndrome |
|
Hypogonadism, Cryptorchidism, Hypospadias, Adrenal hypoplasia |
ORPHA:85173 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal salt wasting, Precocious puberty, Crypt... |
OMIM:614736 |
| Whipple Disease |
|
Hyponatremia, Gastrointestinal hemorrhage, Pericarditis, Hepatomegaly, Myocardial infarction, Cou... |
ORPHA:3452 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Intellectual Developmental Disorder, X-Linked 93 |
|
Cryptorchidism |
OMIM:300659 |
| Isolated Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Cryptorchidism |
ORPHA:408 |
| Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... |
ORPHA:797 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95512 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Cryptorchidism |
ORPHA:1174 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Cataract, Optic atrophy |
OMIM:165300 |
| Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion concentr... |
ORPHA:173 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Oliver-Mcfarlane Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... |
OMIM:275400 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... |
OMIM:264350 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, In... |
OMIM:603553 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Poems Syndrome |
|
Papilledema, Diabetes mellitus, Polycythemia, Abnormality of the endocrine system, Respiratory in... |
ORPHA:2905 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Cryptorchidism |
ORPHA:2489 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive... |
ORPHA:247353 |
| Intermediate Osteopetrosis |
|
Cranial nerve compression, Hepatosplenomegaly, Anemia, Hypocalcemia, Optic atrophy from cranial n... |
ORPHA:210110 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Cataract, Decreased circulating parathyroid hormone level, Nephrocalcinosis, ... |
OMIM:146200 |
| Isolated Hemihyperplasia |
|
Cryptorchidism |
ORPHA:2128 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
| Joubert Syndrome 9 |
|
Cataract, Retinal dystrophy, Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Astigmati... |
OMIM:612285 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Respiratory distress, Tachycardia, Renal insufficiency, Sinusitis, Elevated circulating cr... |
ORPHA:36234 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Cataract, Abnormal circulating calcium-phosphate regulating hormone concentra... |
ORPHA:2238 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
| Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre... |
ORPHA:168558 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Optic at... |
ORPHA:79312 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Pneumonia, Elevated circulating C-reactive protein concent... |
OMIM:619381 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Cryptorchidism |
OMIM:250951 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Cerebral vasculitis, Leukocytosis, Abnormal autonomic nervous system physiology, Hy... |
ORPHA:83601 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
| Livedoid Vasculopathy |
|
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Abnormality of the peripheral nervou... |
ORPHA:542643 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn... |
ORPHA:2239 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Hyponatremia, Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia |
OMIM:620157 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Prolonged QT interval, Cataract, Hypergonadotropic hypogonadism, Decreased response t... |
ORPHA:79443 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperammon... |
ORPHA:27 |
| Infant Botulism |
|
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Hyperten... |
ORPHA:178478 |
| Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Nonproductive cough, Tachypnea, Gonadal calcification, Increased circula... |
ORPHA:60025 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Cataract, Splenomegaly, Optic atrophy, Renal hypoplasia, Nephrocalcinos... |
OMIM:617913 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Organic aciduria, Thromboc... |
ORPHA:79242 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoplasia of penis, Anterior hypopituitarism |
ORPHA:2022 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
| Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Hypomagne... |
ORPHA:398063 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Small Cell Carcinoma Of The Bladder |
|
Dysuria, Hematuria, Hypercalcemia |
ORPHA:284400 |
| Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolem... |
ORPHA:427 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia |
ORPHA:2151 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Respiratory failure requiring assisted ventilation, Neutrophilia, Elevated circulat... |
ORPHA:1930 |
| 46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hypothyroidism, Hepatomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomyopathy,... |
ORPHA:465508 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
| Familial Dysautonomia |
|
Hyponatremia, Abnormal peritoneum morphology, Orthostatic hypotension, Tachycardia, Corneal opaci... |
ORPHA:1764 |
| Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Thrombocytopenia, Optic atrophy, Hyperam... |
ORPHA:289916 |
| Hyperchlorhidrosis, Isolated |
|
Hyponatremia, Hyperkalemia |
OMIM:143860 |
| Shigellosis |
|
Hyponatremia, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Urethritis, Perito... |
ORPHA:810 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level |
OMIM:620126 |
| Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... |
ORPHA:361 |
| Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Prominent corneal nerve fibers, Elevated circulating parathyroid hormo... |
ORPHA:653 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... |
OMIM:617047 |
| Meier-Gorlin Syndrome 8 |
|
Bilateral cryptorchidism |
OMIM:617564 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia |
ORPHA:363741 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
| Complete Atrioventricular Septal Defect |
|
Abnormal EKG, Tachycardia, Left-to-right shunt, Hepatomegaly, Intercostal retractions, Crackles, ... |
ORPHA:1329 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Prominent U wave, ... |
ORPHA:466677 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... |
ORPHA:90038 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalc... |
ORPHA:97283 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Cataract, Atrial fibrillation, First degree atrioventricula... |
OMIM:160900 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciur... |
OMIM:145980 |
| Recessive X-Linked Ichthyosis |
|
Cryptorchidism |
ORPHA:461 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Cataract, Diabetes mellitus, Diabetes insipidus, Hydrou... |
OMIM:222300 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Corneal opacity, Atria... |
ORPHA:137675 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:99880 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... |
ORPHA:70587 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxem... |
ORPHA:2257 |
| Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... |
ORPHA:3363 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Cardiac arrest... |
ORPHA:20 |
| Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Nephrotic syndrome, H... |
ORPHA:29073 |
| Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... |
ORPHA:2041 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Primary hyp... |
OMIM:145981 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Cataract, Elevated circulating creatine kinase c... |
OMIM:615184 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal insufficiency, Hypercalcemia, Testicular neoplasm, Renal hamarto... |
ORPHA:143 |
| 2P21 Microdeletion Syndrome |
|
Nephrolithiasis, Hypogonadism, Hypocalcemia, Cystinuria |
ORPHA:163693 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Hypercalcemia, Hematochezia, Pulmonic stenosis, Hepatic steatosis |
ORPHA:96168 |
| Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Micropenis |
ORPHA:85282 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:1381 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... |
ORPHA:99106 |
| 1Q21.1 Microduplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:250994 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
| Fumarase Deficiency |
|
Increased urine succinate level, Conjunctival icterus, Intrahepatic cholestasis, Optic atrophy, E... |
OMIM:606812 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Cryptorchidism |
OMIM:616681 |
| Acrofacial Dysostosis, Catania Type |
|
Cryptorchidism, Hypospadias |
OMIM:101805 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Elevated circulating acylcarnitine concentration, Optic atrophy, Cardiomyop... |
ORPHA:26792 |
| Al Amyloidosis |
|
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal... |
ORPHA:85443 |
| Central Diabetes Insipidus |
|
Hyponatremia, Diabetes insipidus, Nocturia |
ORPHA:178029 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Splenome... |
OMIM:618892 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hepatomegaly, Elevated circulating creatine kinase concentration, Optic neuropathy,... |
OMIM:610505 |
| Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Cryptorchidism, Hypoplastic male external genitalia |
OMIM:618823 |
| Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Fused labia minora, Optic atrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-... |
OMIM:608688 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... |
OMIM:618883 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Bidirectional ventricular ectopy, Hypokalemia, Syncope, P... |
OMIM:170390 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Increased urinary glycerol, Respiratory... |
ORPHA:348 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... |
OMIM:193300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Elevated circulating thyroid-stimul... |
OMIM:618183 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Bilateral cryptorchidism, Micropenis, Hypospadias |
OMIM:618840 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Cataract, Vacuolated lymphocytes, Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular ... |
OMIM:204200 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Tachypnea, Telangiecta... |
OMIM:615934 |
| Wolfram-Like Syndrome |
|
Peripheral axonal neuropathy, Diabetes mellitus, Optic atrophy, Respiratory insufficiency, Primar... |
ORPHA:411590 |
| Joubert Syndrome 7 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, ... |
OMIM:611560 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Hypercalc... |
ORPHA:97280 |
| Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Iris hypopigmentati... |
ORPHA:167 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Facial palsy, Optic atrophy, Hypocalcemia, Anemia |
ORPHA:53 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Cataract, Dilated cardiomyopathy, Optic atrophy, Renal hypopl... |
ORPHA:254913 |
| Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Hematochezia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia |
OMIM:175500 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No... |
OMIM:618775 |
| Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circ... |
ORPHA:97278 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Hypercalcemia |
ORPHA:2591 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... |
OMIM:618278 |
| Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cone/cone-rod dystrophy, Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblast... |
OMIM:249270 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hy... |
ORPHA:134 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:619310 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism |
ORPHA:261102 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid hyperplasia, Renal phosphate wasting, Elevated ci... |
OMIM:612089 |
| Acute Intermittent Porphyria |
|
Hyponatremia, Dark urine, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Weakne... |
ORPHA:79276 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Faci... |
OMIM:259700 |
| Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Cholestasis, Respiratory i... |
ORPHA:746 |
| Biotinidase Deficiency |
|
Hepatomegaly, Apnea, Splenomegaly, Tachypnea, Optic atrophy, Hyperammonemia, Organic aciduria, Co... |
OMIM:253260 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyponatremia, Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidis... |
OMIM:201810 |
| Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia... |
ORPHA:90794 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
| Nathalie Syndrome |
|
Abnormal EKG, Cataract |
OMIM:255990 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Retinal detachment, Hypoventilation, Cataract, Optic nerve hypoplasia, Retinal tela... |
OMIM:620155 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Conjun... |
OMIM:194380 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, P... |
ORPHA:90790 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopa... |
ORPHA:563 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Pancytopenia, Extramedullary hematopoiesis, Hepatomegaly, Facial palsy, Thromb... |
OMIM:259720 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia, Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Cranial nerve compression, Pitu... |
ORPHA:652 |
| Pseudohypoparathyroidism, Type Ic |
|
Cataract, Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidis... |
OMIM:612462 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
| Stt3A-Cdg |
|
Cryptorchidism, Micropenis, Small scrotum |
ORPHA:370921 |
| Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Tachycardia, Apnea, Episodic tachypnea, Pigmentary retinopathy, Aspiration pne... |
ORPHA:79264 |
| Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract, Optic atrophy, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:620312 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism |
OMIM:601794 |
| Hartsfield Syndrome |
|
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Hypernatremia, Diabetes insipidus |
OMIM:615465 |
| Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
| Grfoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Elevated circ... |
ORPHA:97261 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Cryptorchidism |
ORPHA:1338 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Cryptorchidism |
OMIM:616816 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,... |
OMIM:601678 |
| Prune1-Related Neurological Syndrome |
|
Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Respiratory insuffic... |
ORPHA:544469 |
| Developmental And Epileptic Encephalopathy 70 |
|
Cryptorchidism |
OMIM:618298 |
| Autosomal Recessive Amelia |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:1027 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarct... |
OMIM:274150 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal... |
OMIM:300770 |
| Branchial Arch Syndrome, X-Linked |
|
Cryptorchidism |
OMIM:301950 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... |
OMIM:156400 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
| X-Linked Agammaglobulinemia |
|
Sinusitis, Recurrent pneumonia, Hepatitis, Anemia, Conjunctivitis, Hypocalcemia, Neutropenia, Thr... |
ORPHA:47 |
| Citrullinemia Type I |
|
Elevated plasma citrulline, Hepatic failure, Tachypnea, Hyperammonemia |
ORPHA:247525 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ... |
OMIM:131100 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... |
ORPHA:464453 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:300997 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Papilledema, Developmental cataract, Retinal calc... |
OMIM:127000 |
| Leber Hereditary Optic Neuropathy |
|
Retinal telangiectasia, Optic atrophy, Ventricular preexcitation, Retinal vascular tortuosity, Ar... |
ORPHA:104 |
| Ogden Syndrome |
|
Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficie... |
OMIM:300855 |
| Chromosome 15Q26-Qter Deletion Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:612626 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Choroidal neovascularization, Elevated circulating C-reactive protein concentr... |
ORPHA:91500 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Proximal Xq28 Duplication Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:1762 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Hepatomegaly, Tachycardia, Cardiac shunt, Maternal diabetes, Congestive heart failure, Left ventr... |
ORPHA:860 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocal... |
ORPHA:90362 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... |
ORPHA:432 |
| Spondylometaphyseal Dysplasia, Axial |
|
Cone/cone-rod dystrophy, Splenomegaly, Recurrent pneumonia, Optic atrophy, Restrictive ventilator... |
OMIM:602271 |
| Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria, Hypocalcemia,... |
OMIM:619991 |
| Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus |
ORPHA:893 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Tubulointerstitial fibrosis |
OMIM:263000 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocyt... |
ORPHA:231401 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Tachypnea, Heart murmur, Hypocalcemia, Pulmonic stenosis, Aplasi... |
ORPHA:3426 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Urinary incontinence, Decreased nerve conduction velocity, Axonal... |
OMIM:604320 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hy... |
OMIM:253270 |
| Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypo... |
OMIM:603233 |
| Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Optic atrophy, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hyp... |
ORPHA:428 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hyper... |
OMIM:617994 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Retinal dystrophy, Cardiac arrest, Megaloblastic anemia, Congestive heart fail... |
ORPHA:49827 |
| Arima Syndrome |
|
Hepatomegaly, Retinal dystrophy, Proteinuria, Polyuria, Dyspnea, Tachypnea, Optic atrophy, Stage ... |
OMIM:243910 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:168593 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, ST segment elevation, Ventricular tachycardia,... |
ORPHA:263297 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Cryptorchidism |
ORPHA:67044 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Hypertensive crisis, Diabetes mellitus, Anuria, Pneumonia, Myocar... |
ORPHA:544482 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Secondary amenorrhea, Polycysti... |
ORPHA:3085 |
| Alazami-Yuan Syndrome |
|
Cryptorchidism |
OMIM:617126 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Coffin-Siris Syndrome 8 |
|
Cryptorchidism |
OMIM:618362 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, Elevated circ... |
OMIM:615042 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Small scrotum, Portal hypertension, Cough, Tachypnea... |
OMIM:613658 |
| O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism |
OMIM:618512 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Tachypnea, Reduced left ventricular ejection fract... |
OMIM:616501 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Non-Distal Duplication 10Q |
|
Cryptorchidism |
ORPHA:1695 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Abnormal T cell morphology, Tubulointerstitial nephritis... |
ORPHA:330015 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Prolonged QT interval, Aganglionic megacolon, Elevated circulating creatine concentration |
OMIM:300352 |
| Infantile Refsum Disease |
|
Hepatomegaly, Cataract, Facial palsy, Optic atrophy, Elevated circulating phytanic acid concentra... |
ORPHA:772 |
| Stt3B-Cdg |
|
Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
ORPHA:370924 |
| Alg12-Cdg |
|
Hyponatremia, Retinal detachment, Decreased serum insulin-like growth factor 1, Elevated hepatic ... |
ORPHA:79324 |
| Retinitis Pigmentosa 59 |
|
Cryptorchidism, Micropenis |
OMIM:613861 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
| Fetal Akinesia Deformation Sequence 4 |
|
Cryptorchidism |
OMIM:618393 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Hypoventilation, Elevated circulating creatine kinase concentration, Respiratory in... |
OMIM:310200 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Decreased response to growth hormone stimula... |
OMIM:610978 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena... |
ORPHA:369837 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... |
ORPHA:95496 |
| Cardiomyopathy, Dilated, 2H |
|
Reduced left ventricular ejection fraction, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
| Microcephaly 27, Primary, Autosomal Dominant |
|
Cryptorchidism, Micropenis |
OMIM:619180 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased serum ins... |
ORPHA:293978 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Cryptorchidism |
ORPHA:2958 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Dyspnea, Elevated urinary dopamine level, Elevated circula... |
ORPHA:230 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Rhinorrhea, Cough, Whe... |
OMIM:613807 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Small scrotum, Cryptorchidism, Optic atrophy, Micropenis, Thrombocytopenia |
OMIM:615597 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitia... |
ORPHA:37042 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Isothenuria, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Nephrocalcinosis, Decreased m... |
OMIM:611590 |
| Renal Tubular Acidosis, Distal, 1 |
|
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... |
OMIM:179800 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s... |
OMIM:616959 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... |
ORPHA:75565 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Optic atrophy, Abnorm... |
OMIM:598500 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... |
OMIM:214700 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... |
OMIM:614500 |
| Non-Syndromic Posterior Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Ventral shortening of foreski... |
ORPHA:95706 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:618815 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, Fingerpa... |
OMIM:600376 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
| Congenital Myopathy 9A |
|
Cryptorchidism |
OMIM:618822 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... |
ORPHA:447 |
| Autosomal Dominant Omodysplasia |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia |
ORPHA:93328 |
| Rett Syndrome |
|
Abnormal T-wave, Prolonged QTc interval, Apnea, Intermittent hyperventilation |
OMIM:312750 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Cryptorchidism |
OMIM:273390 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Cryptorchidism, Micropenis, Hypospadias |
OMIM:301830 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ... |
ORPHA:2785 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Cataract, Premature... |
ORPHA:79239 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
| Dpagt1-Cdg |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Optic atrophy, Developmental ... |
ORPHA:86309 |
| Joubert Syndrome 30 |
|
Tachypnea, Retinal dystrophy, Apnea |
OMIM:617622 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ... |
OMIM:608799 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Polycythemia, Palate telangiectasia, High-out... |
OMIM:187300 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism |
OMIM:210700 |
| Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:244200 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatoblastoma, Nephropathy, Vesicoureteral reflux, Hypothyroidism, Polycyt... |
ORPHA:116 |
| Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Hypercalcemia, Elevated circulating growth hormon... |
ORPHA:249 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... |
ORPHA:90044 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hydroxyprolinuria, Hypercalcemia |
OMIM:602080 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| 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 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Hyperparathyroidism, Stage 3 chronic kidney disease, Elevated circulating creatinine... |
OMIM:620366 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Retinal dystrophy, Macular coloboma, Diabetes insipidus, Elevated amniotic flu... |
ORPHA:423479 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cryptorchidism, Hypospadias |
OMIM:620135 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
ORPHA:3459 |
| Cinca Syndrome |
|
Papilledema, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
OMIM:607115 |
| Retinitis Pigmentosa |
|
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Abnormal retinal... |
ORPHA:791 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3 |
|
Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:613151 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... |
OMIM:611040 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Iris hypopigmentation, Facial palsy, Respiratory insufficiency, Hypertension, ... |
ORPHA:97229 |
| Sarcosinemia |
|
Optic atrophy, Hypersarcosinemia, Pulmonic stenosis, Hypersarcosinuria, Hypertrophic cardiomyopathy |
ORPHA:3129 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Hypospadias |
OMIM:616910 |
| Aniridia-Absent Patella Syndrome |
|
Cryptorchidism |
ORPHA:1069 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:613970 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis, Hepatosplenomegaly, Hydr... |
ORPHA:1655 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Optic disc pallor, Hepatomegaly, Facial palsy, Splenomegaly, Thrombocytopenia, O... |
OMIM:611490 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum |
OMIM:615433 |
| Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... |
ORPHA:288 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, D... |
OMIM:251900 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
| Serotonin Syndrome |
|
Tachycardia, Tachypnea, Hypertension, Hypotension, Hepatic failure, Abnormality of the autonomic ... |
ORPHA:43116 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:2772 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Partial deve... |
OMIM:608800 |
| Urofacial Syndrome 1 |
|
Cryptorchidism |
OMIM:236730 |
| Mosaic Trisomy 14 |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:1703 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Cryptorchidism, Pancreatic lymphangiectasis... |
OMIM:235255 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Cataract, Hypocalcemia, Nephropathy, Hypothyroidism |
ORPHA:1563 |
| Joubert Syndrome 3 |
|
Central apnea, Retinal dystrophy, Episodic tachypnea, Stage 5 chronic kidney disease, Pigmentary ... |
OMIM:608629 |
| Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism |
OMIM:601349 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Cryptorchidism, Micropenis, Hypospadias, Episodic tachypnea |
ORPHA:2872 |
| Laurence-Moon Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Type II diabetes mellitus, Displacement of the urethral meatus |
ORPHA:2377 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacc... |
ORPHA:534 |
| Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism |
OMIM:618388 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85279 |
| Holoprosencephaly |
|
Hyponatremia, Hypoplasia of penis, Diabetes mellitus, Diabetes insipidus, Proteinuria, Abnormalit... |
ORPHA:2162 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... |
OMIM:265120 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hypogonadism, Cryptorchidism, Testicular seminoma |
ORPHA:281090 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Pulmonary arterial hypertension, Stridor, Optic nerve hypoplasia |
OMIM:620029 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Thrombocytopenia, Cryptorchidism, Heart murmur, Respiratory insu... |
ORPHA:163979 |
| Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin... |
OMIM:613090 |
| Lissencephaly 8 |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
OMIM:617255 |
| Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Thyroiditis, Iron deficiency anemia, Hypocalcem... |
OMIM:212750 |
| Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Optic disc pallor, Cataract, Elevat... |
OMIM:610377 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Optic disc pallor, Hepatomegaly, Cataract, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia |
OMIM:613730 |
| Acrocallosal Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:36 |
| Cln3 Disease |
|
Cataract, Bull's eye maculopathy, Vacuolated lymphocytes, Optic atrophy, Increased circulating an... |
ORPHA:228346 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Facial palsy, Elevated circulating creatine kinase concentration, Abnormal retinal morphology, Op... |
ORPHA:254886 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... |
OMIM:232300 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ... |
OMIM:314050 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
| Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Corneal opacity, Cryptorchidism, Hyperphosphatemia, Asti... |
ORPHA:2323 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, N... |
ORPHA:904 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Chorioretinal coloboma, ... |
ORPHA:1473 |
| Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Renal insufficiency, Hepatomegaly, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism, Glandular hyposp... |
OMIM:300219 |
| Gracile Bone Dysplasia |
|
Asplenia, Micropenis, Hypocalcemia, Aniridia, Hypoplastic spleen |
OMIM:602361 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Premature pubarche |
ORPHA:457205 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
| Leber Congenital Amaurosis 2 |
|
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... |
OMIM:204100 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Joubert Syndrome With Oculorenal Defect |
|
Renal insufficiency, Aganglionic megacolon, Retinal dystrophy, Apnea, Tachypnea, Chorioretinal co... |
ORPHA:2318 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Neurofibromatosis-Noonan Syndrome |
|
Cryptorchidism |
ORPHA:638 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Urinary incontinence, Hypercalcemia |
ORPHA:476126 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
| Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Neonatal respiratory distress, Pneumonia, Absent outer dynein arms, Bronchiecta... |
OMIM:612444 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Cryptorchidism |
ORPHA:404451 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Retinal dystrophy, Renal i... |
ORPHA:713 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Neonatal respiratory distress, Absent inner dynein arms, Absent outer dynein ar... |
OMIM:614874 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... |
ORPHA:231625 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Congestive heart failure, Abnormal renal tubular resorption, Dilated cardio... |
ORPHA:73224 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Retinal detachment, Small scrotum, Hypospadias, Cryptorchidism, Recurrent p... |
OMIM:607143 |
| Cach Syndrome |
|
Cataract, Premature ovarian insufficiency, Optic atrophy, Nonketotic hyperglycinemia, Secondary a... |
ORPHA:135 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Insulin-resistant diabetes mellitus, Optic atrophy, Cardiomyopathy,... |
ORPHA:401768 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tachypnea, Chorioretinal atrophy, Hepatitis, Hyperam... |
ORPHA:415 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Hypothyroidism |
OMIM:619908 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism |
ORPHA:1237 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Ureteral duplication, Hypospadia... |
ORPHA:373 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Cryptorchidism |
OMIM:615633 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Developmental cataract, Retinal calcification, Abnormal circulating follicle-stimula... |
ORPHA:93325 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Jaundice, Hepatosplenomegaly, Aminoaciduria |
ORPHA:33574 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Li-Campeau Syndrome |
|
Cryptorchidism, Micropenis, Hypothyroidism |
OMIM:619189 |
| Japanese Encephalitis |
|
Hyponatremia, Decreased motor nerve conduction velocity, Respiratory distress, Neutrophilia, Faci... |
ORPHA:79139 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
| X-Linked Intellectual Disability, Pai Type |
|
Hydrocele testis, Cryptorchidism |
ORPHA:85322 |
| Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Respiratory distress, ... |
OMIM:615512 |
| Leptospirosis |
|
Respiratory distress, First degree atrioventricular block, Cough, Conjunctival hyperemia, Papille... |
ORPHA:509 |
| Wt Limb-Blood Syndrome |
|
Cryptorchidism |
OMIM:194350 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Cryptorchidism, Absent nipple, Male urethral meatus stenosis, Hypoplastic nipples |
OMIM:616001 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Facial palsy, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia |
OMIM:615085 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Proteinuria, Splenomegaly, Congestive heart failure, Recurren... |
OMIM:617303 |
| Muckle-Wells Syndrome |
|
Hepatomegaly, Splenomegaly, Vasculitis, Optic atrophy, Nephrotic syndrome, Restrictive ventilator... |
ORPHA:575 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hyperphosphatemia, Elevated circulating parathyroid hormone ... |
ORPHA:79445 |
| Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hypothyroidism, Hemolytic anemi... |
OMIM:619487 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... |
OMIM:615849 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph... |
ORPHA:324 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Macular atrophy, Productive cough, Posterior subcapsular cataract, Bronchiecta... |
OMIM:615434 |
| Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Hepatomegaly, Peripheral axonal neuropathy, Elevated hepatic ... |
OMIM:615673 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dyspnea, Hyperpepsinogenemia I, Cardiomy... |
OMIM:615745 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... |
OMIM:608758 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Delayed puberty, Micropenis |
OMIM:147950 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Cryptorchidism, Micropenis |
OMIM:618504 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Apnea, Low plasma citrulline, Optic atrophy, Elevated circulating alanin... |
OMIM:261680 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Optic atrophy, Hyperammonemia, Pleural effusion, Bradycardia, Hyperalaninemia, Hypertrophic cardi... |
OMIM:614702 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Chorioretinal coloboma |
ORPHA:163961 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Hypocalcemia |
ORPHA:1438 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry... |
OMIM:300946 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Apnea, Optic atrophy, Bronchiectasis, Hyperammonemia, Respiratory insufficiency, Asp... |
OMIM:618253 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipi... |
OMIM:220110 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Cryptorchidism, Midshaft hypospadias, Anterior hypopituitarism |
ORPHA:2863 |
| Birk-Aharoni Syndrome |
|
Cryptorchidism, Micropenis |
OMIM:620071 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, External genital hypoplasia |
ORPHA:1867 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
| Abruzzo-Erickson Syndrome |
|
Cryptorchidism, Hypospadias, Coronal hypospadias |
ORPHA:921 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism |
ORPHA:178148 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Type I diabetes mellitus, Cryptorchidism |
ORPHA:1192 |
| 46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Shawl scrotum |
ORPHA:2256 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Cryptorchidism, Tachypnea, Hypertension, Retinal infarction, Pulmonary arterial hypertension, Myd... |
OMIM:613834 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension |
OMIM:613320 |
| Walker-Warburg Syndrome |
|
Retinal detachment, Hypoplasia of penis, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Co... |
ORPHA:899 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... |
ORPHA:411527 |
| Temple Syndrome |
|
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... |
ORPHA:254516 |
| Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Optic atrophy, Cardiomyopathy |
ORPHA:1177 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... |
OMIM:613243 |
| Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
| Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes |
|
Cryptorchidism, Micropenis |
OMIM:614684 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, External genital hypoplasia |
OMIM:613390 |
| Snijders Blok-Fisher Syndrome |
|
Cryptorchidism |
OMIM:618604 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:99228 |
| Monosomy X |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:99226 |
| Turner Syndrome |
|
Myocardial infarction, Ectopic kidney, Hepatic fibrosis, Hepatic steatosis, Hashimoto thyroiditis... |
ORPHA:881 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Hypocholesterolemia, ... |
ORPHA:14 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Apnea, Splenomegaly, Hypocalcemia, Chronic rhinitis, Hypophosphatemia, Pulmonary ar... |
ORPHA:667 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Bilateral cryptorchidism |
ORPHA:314575 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, ... |
ORPHA:496790 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
| Atypical Rett Syndrome |
|
Sudden episodic apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:3095 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Hypokalemia |
OMIM:618426 |
| Srd5A3-Cdg |
|
Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm... |
ORPHA:324737 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Chorioretinal hyperpigmentation, Optic atrophy, Respiratory insuff... |
OMIM:618329 |
| Birk-Landau-Perez Syndrome |
|
Stage 3 chronic kidney disease, Renal insufficiency, Neonatal respiratory distress, Optic atrophy... |
OMIM:617595 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Hepatomegaly, Cataract, Corneal opacity, Optic atrophy, He... |
ORPHA:93400 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cryptorchidism |
OMIM:618917 |
| Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Crackle... |
OMIM:233450 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, O... |
ORPHA:436271 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Cryptorchidism |
ORPHA:466926 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
| Fg Syndrome 3 |
|
Cryptorchidism |
OMIM:300406 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Cryptorchidism, Hypoplastic female external genitalia |
OMIM:618577 |
| Oculocerebrocutaneous Syndrome |
|
Cryptorchidism |
OMIM:164180 |
| Joubert Syndrome 1 |
|
Central apnea, Optic disc pallor, Retinal dystrophy, Episodic tachypnea, Optic disc coloboma, Ren... |
OMIM:213300 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Hypoventilation, Decreased response to growth hormon... |
ORPHA:293987 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Cryptorchidism, Micropenis |
OMIM:612447 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Cryptorchidism, Hypogonadism |
ORPHA:85323 |
| Leber Congenital Amaurosis 9 |
|
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... |
OMIM:608553 |
| Marinesco-Sjögren Syndrome |
|
Cataract, External genital hypoplasia, Optic atrophy, Abnormal circulating creatine kinase concen... |
ORPHA:559 |
| Carpenter Syndrome |
|
Abnormal reproductive system morphology, Cryptorchidism, External genital hypoplasia |
ORPHA:65759 |
| Boomerang Dysplasia |
|
Cryptorchidism, Decreased response to growth hormone stimulation test |
ORPHA:1263 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Elevated hepatic transaminase, Renal insufficiency, Retinal dystrophy, Hypospadias, Supernumerary... |
ORPHA:397715 |
| Distal Duplication 15Q |
|
Cryptorchidism, Abnormality of female external genitalia |
ORPHA:1707 |
| Muscle-Eye-Brain Disease |
|
Cataract, Optic atrophy, Elevated circulating creatine kinase concentration |
ORPHA:588 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Ambiguous genitalia, Cryptorchidism, Hypoplasia of penis |
ORPHA:452 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Aca... |
ORPHA:96180 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Tachypnea |
ORPHA:765 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Leukopenia, Hypoalbuminemia, Conjunctivitis, Tricuspid regurgitation, Hepat... |
ORPHA:505248 |
| Pseudohypoparathyroidism, Type Ia |
|
Cataract, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone l... |
OMIM:103580 |
| Rahman Syndrome |
|
Cryptorchidism |
OMIM:617537 |
| Alpha-Mannosidosis, Adult Form |
|
Aortic regurgitation, Optic disc pallor, Pancytopenia, Cataract, Corneal opacity, Pneumonia, Hepa... |
ORPHA:309288 |
| Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Renal insufficiency, Cataract... |
ORPHA:90321 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Retinal detachment, Cataract, Optic nerve hypoplasia, Elevated circulating creatine kinase concen... |
ORPHA:370959 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation, Hepatomegaly, Aganglionic megacolon, Heart block, Abnormalit... |
ORPHA:175 |
| Ochoa Syndrome |
|
Cryptorchidism |
ORPHA:2704 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
OMIM:264700 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Renal insufficiency, Retinal dystrophy, Exercise-induced myogl... |
OMIM:300653 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... |
ORPHA:2232 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Distal Deletion 10P |
|
Cryptorchidism, Hypoplasia of penis, Polycystic ovaries |
ORPHA:1580 |
| Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Microcytic anemia, Cryptorchidism, Insulin-resistant diabetes mell... |
ORPHA:293967 |
| Ruvalcaba Syndrome |
|
Cryptorchidism, Delayed puberty |
OMIM:180870 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Intrahepatic biliary dysgenesis, Hepatomegaly, Tricusp... |
OMIM:614866 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, Hypogonadotropic hy... |
ORPHA:398079 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Proteinuria, Megaloblastic anemia,... |
ORPHA:35858 |
| Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Papilledema, Proteinuria, Bilateral cryptorchidism, Asthma, Male h... |
OMIM:619471 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... |
ORPHA:99826 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:617788 |
| Leber Congenital Amaurosis |
|
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract |
ORPHA:65 |
| Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Tachypnea |
OMIM:245050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Hyponatremia, Respiratory failure, Patent urachus |
OMIM:618252 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Cataract, Aganglionic megacolon, Hypercalcemia, Hyposp... |
ORPHA:821 |
| 17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Decreased response to growth hormone stimulation test, Secondary amenorrhe... |
ORPHA:529962 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypogonadism, Decreased testicular size |
ORPHA:127 |
| Williams-Beuren Syndrome |
|
Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid... |
OMIM:194050 |
| Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Hy... |
ORPHA:1187 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Central apnea, Diabetes mellitus, Dysuria, Nephropathy, Abnormal mes... |
ORPHA:3463 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pul... |
ORPHA:70591 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, Corneal ... |
ORPHA:912 |
| Joubert Syndrome 2 |
|
Central apnea, Renal insufficiency, Retinal dystrophy, Episodic tachypnea, Optic disc coloboma, R... |
OMIM:608091 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Septate vagina, Unilateral renal agen... |
ORPHA:2237 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,... |
OMIM:618849 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni... |
OMIM:201750 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Dy... |
OMIM:609040 |
| Lesch-Nyhan Syndrome |
|
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicul... |
OMIM:300322 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... |
ORPHA:99103 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Cataract, Cryptorchidism, Posterior subcapsular cataract, Asthma, Optic atrophy, Pigmentary retin... |
OMIM:300578 |
| Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Persistence of hemoglobin F, Mitral regurgitation, Increased mean corpuscular ... |
OMIM:612561 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia, Exertional dyspnea |
ORPHA:621 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Elevated circulating creatine ... |
ORPHA:329178 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| Brugada Syndrome 4 |
|
Shortened QT interval, Syncope, Atrial fibrillation |
OMIM:611876 |
| Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
| Cerebrotendinous Xanthomatosis |
|
Optic disc pallor, Cataract, Angina pectoris, Myocardial infarction, Respiratory insufficiency, A... |
OMIM:213700 |
| Qazi-Markouizos Syndrome |
|
Cryptorchidism |
ORPHA:3010 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Cryptorchidism, HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Tachyp... |
ORPHA:555874 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Pancreatic steatosis, T... |
OMIM:617052 |
| Joubert Syndrome |
|
Aganglionic megacolon, Episodic tachypnea, Apnea, Abnormal pattern of respiration, Abnormality of... |
ORPHA:475 |
| Aortic Arch Interruption |
|
Aortic regurgitation, Shock, Respiratory distress, Tricuspid regurgitation, Blood pressure substa... |
ORPHA:2299 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Cryptorchidism, Diabetes mellitus, Hypospadias, Congenital hypothyroidism |
OMIM:614613 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Respiratory di... |
OMIM:260400 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Hyperuricemia, Hypertension |
ORPHA:2801 |
| 22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Abnormality of the uterus, Vesicoureteral reflux, Hypothy... |
ORPHA:567 |
| Meningococcal Meningitis |
|
Shock, Papilledema, Renal insufficiency, Neonatal respiratory distress, Elevated circulating C-re... |
ORPHA:33475 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Supernumerary nipple |
OMIM:617635 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating C-reactive protei... |
OMIM:615688 |
| Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism |
ORPHA:3409 |
| Joubert Syndrome 37 |
|
Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:619185 |
| Oncogenic Osteomalacia |
|
Hyperphosphaturia, Neurofibroma, Renal phosphate wasting, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Cryptorchidism, Abnormality of the parathyroid gland |
ORPHA:3429 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Sinusitis, Glomerulonephritis, Pneumonia, Lymphocytic interstitial pneumo... |
ORPHA:2968 |
| Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal T-wave, Arrhythmia |
ORPHA:1055 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum, Microphallu... |
ORPHA:397590 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hyperhomocysti... |
ORPHA:79282 |
| Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism |
ORPHA:110 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Cranial nerve compression, Optic atrophy, Hepatosplen... |
OMIM:259710 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Cryptorchidism |
OMIM:618060 |
| Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Optic disc pallor, Choroidal neovascularization, Ac... |
ORPHA:416 |
| Prune Belly Syndrome |
|
Cryptorchidism, Decreased fertility, Abnormality of the uterus, Decreased testicular size, Urogen... |
ORPHA:2970 |
| Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non-medullary thyro... |
ORPHA:273 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Right bundle branch block, Poll... |
ORPHA:268 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism |
OMIM:620012 |
| Coach Syndrome 1 |
|
Elevated hepatic transaminase, Optic disc pallor, Hepatomegaly, Portal hypertension, Unilateral r... |
OMIM:216360 |
| Noonan Syndrome 9 |
|
Cryptorchidism |
OMIM:616559 |
| Prune Belly Syndrome |
|
Cryptorchidism |
OMIM:100100 |
| Digeorge Syndrome |
|
Sclerocornea, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypoc... |
OMIM:188400 |
| Bresek Syndrome |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85284 |
| Facial Dysmorphism-Macrocephaly-Myopia-Dandy-Walker Malformation Syndrome |
|
Cryptorchidism, Small scrotum |
ORPHA:1970 |
| Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Renal insufficiency, Premature ovarian insufficiency, Proteinuria,... |
OMIM:610965 |
| Craniofacial Dyssynostosis With Short Stature |
|
Cryptorchidism, Hypospadias |
OMIM:218350 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
ORPHA:289157 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:613154 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Hypocalcemia |
OMIM:618476 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Neonatal respiratory distress, Female infertility, Productive cough, Asplenia, ... |
ORPHA:244 |
| Stankiewicz-Isidor Syndrome |
|
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis |
OMIM:617516 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Hypocalcemia, Retinal vascular tortuosity, Posterior embryotoxon |
OMIM:192430 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Cataract, Prolonged QRS complex, Apnea, Left axis deviation, Congestive hea... |
OMIM:261740 |
| Hyperoxaluria, Primary, Type I |
|
Hyperoxaluria, Renal insufficiency, Choroidal neovascularization, Optic neuropathy, Retinal cryst... |
OMIM:259900 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Optic atrophy, Hypocalcemic seizures, Optic nerv... |
OMIM:612301 |
| Omodysplasia 2 |
|
Dyspareunia, Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasi... |
OMIM:164745 |
| Rin2 Syndrome |
|
Cryptorchidism, Premature ovarian insufficiency, Hypergonadotropic hypogonadism |
ORPHA:217335 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Ambiguous genitalia, Aganglionic megacolon, Abnormal hemoglobin, Cryptorchid... |
ORPHA:847 |
| Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Small scrotum |
ORPHA:2083 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Diabetes mellitus, Cryptorchidism |
OMIM:615381 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Cryptorchidism, Shawl scrotum |
ORPHA:1778 |
| Cree Mental Retardation Syndrome |
|
Bifid scrotum, Cryptorchidism, Hypospadias |
OMIM:606851 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Cryptorchidism |
OMIM:620365 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Apnea, Cardiac conduction abnormality, Segmental peripheral demyelination/remyelina... |
ORPHA:255210 |
| Osteoglosphonic Dysplasia |
|
Cryptorchidism |
ORPHA:2645 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Cryptorchidism, Small scrotum, Hypogonadism |
ORPHA:228390 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Reni Syndrome |
|
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism |
OMIM:617575 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Delayed puberty, Micropenis |
OMIM:619718 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Retinal detachment, Cataract, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:253800 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Atypical or p... |
ORPHA:83471 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglobin synthe... |
ORPHA:99867 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... |
ORPHA:263479 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Elevated circulatin... |
OMIM:236670 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Mpdu1-Cdg |
|
Decreased serum insulin-like growth factor 1, Elevated circulating creatine kinase concentration,... |
ORPHA:79323 |
| Chromosome 18P Deletion Syndrome |
|
Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:146390 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Orofacial Cleft 15 |
|
Cryptorchidism |
OMIM:616788 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypospadias, Cryptorchidism, Hypocalcemia, Hydronephrosis |
OMIM:300712 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Immotile cilia, ... |
OMIM:244400 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98754 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... |
OMIM:618195 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:435938 |
| Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Micropenis, Ectopic posterior pituitary |
OMIM:610125 |
| Toluene Embryopathy |
|
Cryptorchidism |
ORPHA:1920 |
| Genitopalatocardiac Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism, Hypospadias, Gonadal dysgenesis, male |
ORPHA:2075 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Annular pancreas, Abnormality of the uterus, Aplasia/Hypoplasia of the pancreas |
ORPHA:2470 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hepatomegaly, Hypoventilation, Apnea, ... |
ORPHA:79330 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Bifid scrotum, Small scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia |
ORPHA:1300 |
| 1Q41Q42 Microdeletion Syndrome |
|
Cryptorchidism, Hypergonadotropic hypogonadism |
ORPHA:250999 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:98793 |
| Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatomegaly, Optic atrophy, Renal cyst, Hepatic fibrosis, Cirrhosis, Rod-cone dys... |
OMIM:601539 |
| Melas |
|
Wolff-Parkinson-White syndrome, Nephropathy, Hypothyroidism, Hypoparathyroidism, Hypogonadotropic... |
ORPHA:550 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, R... |
OMIM:227650 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Optic... |
ORPHA:585 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177904 |
| Isotretinoin-Like Syndrome |
|
Aortic valve stenosis, Lymphopenia, Hypocalcemia |
ORPHA:2306 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Small scrotum, External genital hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:177901 |
| Lig4 Syndrome |
|
Cryptorchidism, Type II diabetes mellitus, Micropenis, Hypothyroidism, Amenorrhea |
OMIM:606593 |
| Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Conjunctival telangiectasia, Optic atrophy, Mildly elevated creatine kinase, Elevated circulating... |
ORPHA:95433 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Cryptorchidism, Abnormality of the scrotum, Small scrotum, Hypospadias |
ORPHA:2505 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... |
OMIM:612572 |
| 17Q12 Microdeletion Syndrome |
|
Pancreatic aplasia, Cryptorchidism, Diabetes mellitus, Shawl scrotum |
ORPHA:261265 |
| Norrie Disease |
|
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... |
OMIM:310600 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypospadias |
ORPHA:77298 |
| Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Bifid scrotum, Cryptorchidism, Hypoplasia of penis, Hypothyroidism |
ORPHA:85321 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... |
OMIM:602772 |
| Autosomal Recessive Omodysplasia |
|
Cryptorchidism |
ORPHA:93329 |
| Hennekam Syndrome |
|
Ectopic kidney, Splenomegaly, Horseshoe kidney, Respiratory insufficiency, Hypocalcemia, Chylotho... |
ORPHA:2136 |
| 9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism |
ORPHA:531151 |
| Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d... |
OMIM:610188 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... |
OMIM:616469 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism |
ORPHA:2519 |
| Double Outlet Left Ventricle |
|
Cryptorchidism, Tachypnea, Systolic heart murmur, Abnormal right ventricular function |
ORPHA:3427 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... |
ORPHA:98977 |
| Isolated Complex I Deficiency |
|
Increased serum pyruvate, Optic disc pallor, Hepatomegaly, Diabetes mellitus, Optic neuropathy, R... |
ORPHA:2609 |
| Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Retinal dystrophy, Malformation of the hepatic ductal plate, Renal magnesium wastin... |
OMIM:218330 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Leber Optic Atrophy |
|
Optic neuropathy, Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy,... |
OMIM:535000 |
| Prader-Willi Syndrome |
|
Small scrotum, Diabetes mellitus, External genital hypoplasia, Decreased response to growth hormo... |
ORPHA:739 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Increased hepatocellular lipid droplets, Microvesicular hepatic steatosis... |
OMIM:220111 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Retinal dystrophy, Optic nerve hypoplasia, Leukocytosis, Optic atrophy, Renal hypoplasia, Hypopla... |
OMIM:619321 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Cryptorchidism, Micropenis, Small scrotum, Microphallus |
OMIM:300486 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Erythroid hypoplasia, Developmental g... |
ORPHA:124 |
| Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyop... |
OMIM:229300 |
| Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hypothyroidism, Hepato... |
OMIM:243800 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lact... |
OMIM:619167 |
| Cockayne Syndrome |
|
Urinary incontinence, Retinal arteriolar constriction, Lentiglobus, Retinal degeneration, Hepatom... |
ORPHA:191 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Cryptorchidism |
OMIM:301039 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Astigmatism, Recurrent pneumonia |
OMIM:619769 |
| Scarf Syndrome |
|
Bifid scrotum, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis |
ORPHA:3134 |
| Harrod Syndrome |
|
Cryptorchidism, Hypospadias |
ORPHA:2115 |
| Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi... |
OMIM:219700 |
| Microphthalmia With Brain And Digit Anomalies |
|
Cryptorchidism, Abnormality of the hypothalamus-pituitary axis |
ORPHA:139471 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Abnormal choriore... |
ORPHA:564 |
| Waardenburg Syndrome, Type 4C |
|
Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism |
OMIM:613266 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Small scrotum, External genital hy... |
ORPHA:398069 |
| Dextrocardia |
|
Abnormal EKG, Abnormal reproductive system morphology, Abnormality of the spleen, Abnormality of ... |
ORPHA:1666 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Cryptorchidism, Optic atrophy, Mic... |
ORPHA:3301 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Hypospadias |
OMIM:601499 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormalit... |
ORPHA:3157 |
| Hydrolethalus |
|
Cryptorchidism, Abnormal fallopian tube morphology |
ORPHA:2189 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Hypocalcemia, Aspiration, Micropeni... |
OMIM:619503 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Cataract, Hypospadias, Phimosis, Cryptorchidism, Urethral s... |
OMIM:305000 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Stage 5 chro... |
OMIM:268315 |
| Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Breast hypoplasia |
OMIM:613804 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Optic disc pallor, Hepatomegaly, Hypospadias, Apnea, Optic neurop... |
OMIM:252010 |
| Warburg Micro Syndrome 2 |
|
Hypoplastic labia majora, Cryptorchidism, Micropenis, Small scrotum |
OMIM:614225 |
| Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
| Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Optic atrophy, Hyperammonemia, Organic aciduria, C... |
ORPHA:79241 |
| Orofaciodigital Syndrome Type 6 |
|
Bilateral cryptorchidism, Apnea, Episodic tachypnea |
ORPHA:2754 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Cryptorchidism, Small scrotum |
ORPHA:2728 |
| Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hypothyroidism, Breast hypoplasia |
ORPHA:1439 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea... |
ORPHA:3464 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
| Chops Syndrome |
|
Cataract, Tracheomalacia, Splenomegaly, Cryptorchidism, Optic atrophy, Horseshoe kidney, Aspirati... |
OMIM:616368 |
| Ohdo Syndrome, Sbbys Variant |
|
Cryptorchidism, Hypospadias, Hypothyroidism |
OMIM:603736 |
| Cockayne Syndrome Type 3 |
|
Microcornea, Lentiglobus, Retinal degeneration, Hepatomegaly, Retinal atrophy, Renal hypoplasia, ... |
ORPHA:90324 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... |
OMIM:613810 |
| 8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Hypogonadism, Ab... |
ORPHA:251066 |
| Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... |
OMIM:214800 |
| Trisomy 8Q |
|
Cryptorchidism, Hypoplasia of penis, Displacement of the urethral meatus |
ORPHA:1752 |
| Hermansky-Pudlak Syndrome 8 |
|
Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Myopic astigmatism, Ocular albinism, Blue ... |
OMIM:614077 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Retinal detachment, Abnormality of retinal pigmentation, Cataract, H... |
ORPHA:394 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
| Cockayne Syndrome A |
|
Abnormal peripheral myelination, Micropenis, Hepatomegaly, Retinal atrophy, Retinal pigment epith... |
OMIM:216400 |
| 3Mc Syndrome 3 |
|
Bifid scrotum, Cryptorchidism, Micropenis, Penoscrotal hypospadias |
OMIM:248340 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613983 |
| Caudal Regression Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Maternal diabetes |
ORPHA:3027 |
| Martin-Probst Syndrome |
|
Bifid scrotum, Cryptorchidism, Chordee, Hypoplastic nipples, Micropenis, Hypothyroidism |
OMIM:300519 |
| Crane-Heise Syndrome |
|
Cryptorchidism, Hypoplasia of penis |
ORPHA:1512 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, S... |
OMIM:301040 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Reticulocytosis, Thrombocytopenia, Hypopnea, Leukopenia, Hepatic hemangioma... |
ORPHA:2330 |
| Alström Syndrome |
|
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... |
ORPHA:64 |
| African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Iritis, Papilledema, Abnormal EKG, Hepatomegaly, Abnormalit... |
ORPHA:3385 |
| Autoimmune Lymphoproliferative Syndrome |
|
Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD... |
ORPHA:3261 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Fanconi Anemia, Complementation Group P |
|
Cryptorchidism |
OMIM:613951 |
| Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... |
OMIM:236700 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Cryptorchidism, Micropenis, Hypospadias, Shawl scrotum |
OMIM:600460 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Abnormality of the spleen, Optic atrophy, Ago... |
ORPHA:991 |
| Diphallia |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Epispadias, Cryptorchidism, Penoscrotal transp... |
ORPHA:227 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive heart failure, R... |
OMIM:105650 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... |
ORPHA:3093 |
| Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Orthopnea, Congestive heart failu... |
ORPHA:980 |
| Bloom Syndrome |
|
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... |
ORPHA:125 |
| Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Decreased fertility, Breast aplasia, Abnormality of the uter... |
ORPHA:3138 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Pancytopenia, Spontaneous, recurrent epistaxis, Corneal opacity, Abnormality of the ... |
ORPHA:2072 |
| Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Tachypnea, Abnormal heart valve physiology, Hypoplasia of the ... |
ORPHA:3384 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism |
OMIM:619123 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Hypogonadism, External genital hypoplasia |
ORPHA:2250 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Shawl scrotum, Micropenis |
ORPHA:2282 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Cryptorchidism |
ORPHA:2241 |
| Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Hypoventilation, Apnea, Decreased serum iron, Breathing dysregulation, Abnorma... |
ORPHA:438213 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Central retinal vessel vascular tortuosity, Apnea, Hypoplastic male external genitalia |
ORPHA:2751 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Joubert Syndrome 21 |
|
Apnea, Splenomegaly, Dyspnea, Optic atrophy, Megalopapilla, Renal cyst, Respiratory failure, Chro... |
OMIM:615636 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, Hypoplastic labia... |
OMIM:603457 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Small scrotum, Optic nerve hypoplasia, Asthma, Recurrent pneumonia, Hypocalcemia, Hydronephrosis |
OMIM:620330 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Primar... |
OMIM:146255 |
| Sympathetic Ophthalmia |
|
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... |
ORPHA:79098 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abnormal urinary color, Retinal hamartoma, Dyspnea, Emphysema, Optic... |
ORPHA:538 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Retinal atrophy, Cataract, Elevated circulating creatine kinase concentration, Optic atrophy, Bup... |
OMIM:253280 |
| Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly |
ORPHA:2473 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Cryptorchidism, Enuresis, Abnormal optic disc morphology,... |
ORPHA:96121 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Abnorm... |
ORPHA:2166 |
| Wolfram Syndrome 2 |
|
Neurogenic bladder, Diabetes mellitus, Optic neuropathy, Optic atrophy, Primary amenorrhea, Oligo... |
OMIM:604928 |
| Norrie Disease |
|
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... |
ORPHA:649 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hypospadias, Optic nerve hypoplasia, Facial palsy, Renal hypoplasia, Horses... |
ORPHA:508498 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
| Cardiac Diverticulum |
|
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... |
ORPHA:1686 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Cryptorchidism, Labial hypertrophy, Neonatal insulin-dependent diabetes mellitus |
ORPHA:96191 |
| Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Retinal atrophy, Retinal ... |
ORPHA:71505 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Cryptorchidism, Rectoperineal fistula |
OMIM:618748 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... |
ORPHA:289176 |
| Beckwith-Wiedemann Syndrome |
|
Overgrowth of external genitalia, Adrenocortical cytomegaly, Cryptorchidism, Adrenocortical carci... |
OMIM:130650 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
| Penile Agenesis |
|
Ambiguous genitalia, Cryptorchidism, Absent penis, Maternal diabetes |
ORPHA:49 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... |
OMIM:601992 |
