Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
Spermatogenic Failure 50 |
|
Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male infertility |
OMIM:619145 |
Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619712 |
Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:619515 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... |
OMIM:301059 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Androgen insufficiency, Oligospe... |
ORPHA:529970 |
Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
Spermatogenic Failure 76 |
|
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... |
OMIM:620084 |
Spermatogenic Failure 54 |
|
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... |
OMIM:619379 |
Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
Spermatogenic Failure 39 |
|
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... |
OMIM:618643 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility |
OMIM:614822 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:620196 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
Spermatogenic Failure 7 |
|
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:612997 |
Eosinophilia, Familial |
|
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... |
OMIM:607685 |
Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
46,Xx Testicular Difference Of Sex Development |
|
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia |
ORPHA:393 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... |
OMIM:611548 |
Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... |
ORPHA:168563 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
OMIM:614841 |
Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... |
OMIM:614840 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating... |
OMIM:619665 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... |
OMIM:619834 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... |
ORPHA:1916 |
Familial Hyperprolactinemia |
|
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst |
ORPHA:397685 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating antimullerian ho... |
OMIM:619203 |
Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... |
OMIM:619177 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Cryptorchidism, Micropenis, Primary amenorrhea, Decreased serum estradio... |
OMIM:618841 |
Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... |
OMIM:618433 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Delayed puberty, Testicular... |
ORPHA:52901 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary |
OMIM:609993 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
Loeffler Endocarditis |
|
Left atrial enlargement, Left ventricular hypertrophy, Abnormal tricuspid chordae tendinae morpho... |
ORPHA:75566 |
Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... |
ORPHA:251510 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:615723 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Weight loss |
ORPHA:517 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
ORPHA:432 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Spermatogenic Failure 3 |
|
Reduced sperm motility, Male infertility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Reduced sperm motility, Male infertility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Reduced sperm motility, Male infertility |
OMIM:619380 |
46,Xx Gonadal Dysgenesis |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Ambiguous genitalia, Decrea... |
ORPHA:243 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
Gonadoblastoma |
|
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:206484 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia |
OMIM:131440 |
Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Abnormal morphology of female internal genitalia, Ambig... |
ORPHA:983 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... |
OMIM:615300 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Cryptorchidism, Abnormal morphology of... |
ORPHA:754 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... |
ORPHA:66628 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Cryptorchidism, Gonadoblastoma, Streak ovary, Abnormality of the uterus, Abnormal vagina morpholo... |
OMIM:194072 |
Frasier Syndrome |
|
Primary amenorrhea, Gonadoblastoma, Ambiguous genitalia, male, Gonadal dysgenesis with female app... |
ORPHA:347 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Decreased testicular size, Primary amenorrhea, Hyperinsulinemia, Hypergo... |
ORPHA:179494 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Abnormally low T cell receptor excision circle level, Anxiety, Unsteady gait, Eosinophilia |
OMIM:618092 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
Xp22.3 Microdeletion Syndrome |
|
Decreased fertility, Polycystic ovaries, Secondary amenorrhea, Hypogonadotropic hypogonadism |
ORPHA:1643 |
Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... |
ORPHA:3130 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Ambiguous genitalia, male, Urogenital ... |
ORPHA:753 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Irregular vertebral endplates, Hepatomeg... |
OMIM:616651 |
46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Hypoplasia of the ovary, Primary amenorrhea, Breast hypoplasia, Decreased fertil... |
ORPHA:2235 |
Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Oligospermia, Obstructive azoospermia, Male infertility |
ORPHA:48 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... |
OMIM:212050 |
Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive |
|
Thoracolumbar scoliosis, Scoliosis, Joint contracture of the hand, Eosinophilia |
OMIM:618523 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... |
ORPHA:314478 |
Eosinophilic Fasciitis |
|
Eosinophilia, Cellulitis, Fasciitis, Abnormal eosinophil morphology, Weight loss |
ORPHA:3165 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Tetragametic Chimerism |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:199310 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Anemia, Hepatomegaly, Failure to thrive, Eosinophilia, Thrombocytopenia... |
OMIM:226990 |
Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... |
ORPHA:99429 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Leukemia, Histiocytosis |
ORPHA:157991 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... |
ORPHA:2975 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea |
ORPHA:2795 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Cryptorchidism, Agonadism, Primary amenorrhea, Breast hypoplasia, Primary gonada... |
ORPHA:2232 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating ... |
OMIM:308700 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Flexion contracture, Difficulty walking, Eosinophilia |
OMIM:253600 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Cryptorchidism, Hypogonadism, Hypoplasia of penis |
ORPHA:110 |
Roifman Syndrome |
|
Hepatosplenomegaly, Noncompaction cardiomyopathy, Eosinophilia, Biconvex vertebral bodies, Hip co... |
ORPHA:353298 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
Leydig Cell Hypoplasia |
|
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly, Ne... |
OMIM:615387 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:277180 |
Functioning Gonadotropic Adenoma |
|
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... |
ORPHA:91348 |
Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimulating hormon... |
OMIM:308750 |
Plin1-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Abnormal circulating hormone c... |
ORPHA:280356 |
46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... |
OMIM:273250 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Scoliosis, Cutaneous abscess, Eosinophilia |
OMIM:147060 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperinsulinemia, Hypergonadotropi... |
ORPHA:3085 |
Wells Syndrome |
|
Cellulitis, Eosinophilia |
ORPHA:901 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Pulmonic stenosis, Atrial septal defect, Eosinophilia, Spinal canal stenosis, Cutaneous abscess, ... |
OMIM:618282 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral crypto... |
ORPHA:1772 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Cryptorchidism, Ambiguous genitalia, Infertility, Hypothyroidism, Male pseudohermaphroditism, Hyp... |
ORPHA:752 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Failure to thrive |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Failure to thrive |
OMIM:613412 |
Kimura Disease |
|
Eosinophilia |
ORPHA:482 |
Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma |
ORPHA:314473 |
Immunodeficiency 97 With Autoinflammation |
|
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea |
OMIM:184700 |
Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Hypoplasia of t... |
ORPHA:247768 |
Aromatase Deficiency |
|
Female pseudohermaphroditism, Ovarian cyst, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:613546 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Leukemia, Acute lymphoblastic leukemia, Neutropenia, Lymphopenia, Eosinophilia, ... |
ORPHA:486 |
Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Varicocele, Azoospermia, Increase... |
ORPHA:8 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... |
ORPHA:3464 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Male infertility, Short sperm flagella |
OMIM:620197 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Anemia |
OMIM:607115 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatosplenomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Autoimmu... |
ORPHA:331206 |
Omenn Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Failure to thrive, Eosinophil... |
ORPHA:39041 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Atrial septal defect, Anemia, Perimembranous ventricular septal defect... |
OMIM:620135 |
Omenn Syndrome |
|
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Failure to thrive, Eosi... |
OMIM:603554 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Myeloproliferative disorder, Leukocytosis, Acute myeloid leukemia, Myeloid leukemia, Chronic myel... |
ORPHA:98849 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Camptodactyly of toe, Scoliosis, Camptodactyly, Left atrial enlargement, Left ventricular hypertr... |
OMIM:300280 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Hepatosplenomegaly, Eosinophilia, Failure to thrive |
OMIM:618999 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Failure to thrive secondary to ... |
ORPHA:169160 |
Classic Galactosemia |
|
Oligomenorrhea, Delayed puberty, Premature ovarian insufficiency, Decreased fertility in females,... |
ORPHA:79239 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Deafness-Hypogonadism Syndrome |
|
Abnormal spermatogenesis, Delayed puberty, Hypergonadotropic hypogonadism |
ORPHA:90646 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Cystic Echinococcosis |
|
Abnormality of the vertebral column, Abscess, Hepatomegaly, Abnormal heart morphology, Eosinophil... |
ORPHA:400 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hypereosinophilia, Lumbar hyperlordosis, Cervical instability, Inability to walk, Severe platyspo... |
ORPHA:508533 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Umbilical hernia, Lymphopenia, Decrea... |
OMIM:617237 |
Aromatase Deficiency |
|
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d... |
ORPHA:91 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Autoimmune thrombocytopenia, Neutropenia, Failure to thrive, Eosinophilia, Thrombocytopen... |
OMIM:304790 |
Immunodeficiency 23 |
|
Scoliosis, Hemolytic anemia, Ataxia, Abscess, Lymphopenia, Failure to thrive, Eosinophilia, Neutr... |
OMIM:615816 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myocarditis, Gait disturbance, Endocarditis, Eosinophilia, Hypertrophic cardiomyopathy, Abnormal ... |
ORPHA:183 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Aplasia of the thymus, Failure to thrive, Eosinophilia, B lymphocytope... |
OMIM:602450 |
Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Ataxia, Abnormal spleen morphology, Anemia, Eosinophilia, Cutaneous... |
ORPHA:284 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Cervical instability, Lymphopenia, Eosinophilia, Platyspondyly, Kyphoscoliosis, Thoracolumbar kyp... |
OMIM:617425 |
Ovarian Dysgenesis 3 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... |
OMIM:614324 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Severe B lymphocytopenia... |
OMIM:102700 |
Eosinophilic Gastroenteritis |
|
Anemia, Leukocytosis, Eosinophilia, Weight loss |
ORPHA:2070 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Failure to thrive, Splenomegaly |
OMIM:617388 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Failure to thrive, ... |
ORPHA:911 |
Pgm3-Cdg |
|
Neutropenia in presence of anti-neutropil antibodies, Leukopenia, Hemolytic anemia, Ataxia, Decre... |
ORPHA:443811 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... |
OMIM:615363 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Umbilical hernia, Platyspondyly, Bicuspid aortic valve, Conge... |
OMIM:239850 |
46,Xy Sex Reversal 10 |
|
Perineal hypospadias, Dysgerminoma, Decreased testicular size, Micropenis, Ambiguous genitalia, G... |
OMIM:616425 |
Congenital Myopathy 8 |
|
Cardiomegaly, Scoliosis |
OMIM:618654 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Failure to thrive in infancy, Cardiomegaly, Lethargy, Hepatomegaly |
OMIM:619064 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Kyphoscoliosis |
OMIM:300886 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Igg4-Related Aortitis |
|
Hypereosinophilia, Low back pain, Weight loss |
ORPHA:449400 |
Mucopolysaccharidosis, Type Iiib |
|
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Aggressive behavior, Splenomegaly, Ovo... |
OMIM:252920 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Aspergillosis |
|
Abnormality of the vertebral column, Neutropenia, Eosinophilia |
ORPHA:1163 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Failure to thrive, Hypertrophic cardiomyopathy |
OMIM:614096 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Oligomenorrhea, Lacrimal gland aplasia, Premature ovarian insufficiency, Lacrimal gland hypoplasi... |
ORPHA:572333 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Neoplasm of the thyroid gland, Goiter, Polycystic ovaries, Abnormal calcium-phosphate regulating ... |
ORPHA:457059 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Eosinophilia, Failure to thrive, Thrombocytopenia, Pancytopenia |
ORPHA:90045 |
Scleroderma |
|
Myocarditis, Hypereosinophilia, Interstitial cardiac fibrosis, Anxiety, Depression, Flexion contr... |
ORPHA:801 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Increased circulating androstenedione concentration, Increased ser... |
ORPHA:90795 |
Congenital Toxoplasmosis |
|
Anemia, Failure to thrive in infancy, Hepatomegaly, Thrombocytopenia, Cardiomegaly |
ORPHA:858 |
Ciliary Dyskinesia, Primary, 34 |
|
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... |
OMIM:617091 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Hypereosinophilia, Leukocytosis, Weight loss |
ORPHA:2902 |
Neuraminidase Deficiency |
|
Vacuolated lymphocytes, Inguinal hernia, Bone-marrow foam cells, Cardiomyopathy, Hepatomegaly, Ca... |
OMIM:256550 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Myocarditis, Eosinophilia, Lymphocytosis, Weight loss |
ORPHA:139402 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Limb ataxia, Gait disturbance, Unsteady gait, Ataxia, Cardiomyopathy, Gait ataxia, Cardiomegaly, ... |
OMIM:619259 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Diabetes mellitus, Infertility, Erectile dysfunction, Hypothyroidism, Amenorr... |
ORPHA:465508 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Cardiomegaly, Lethargy, Hepatomegaly, Dilated cardiomyopathy |
OMIM:600649 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Scoliosis, Cellulitis, Eosinophilia |
ORPHA:2314 |
Akt2-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... |
ORPHA:79085 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly, Weight loss |
ORPHA:85447 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly, Enamel hypoplasia |
OMIM:613576 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Inability to walk, Steppage gait, Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Kyp... |
ORPHA:324410 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly |
OMIM:269920 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Small for gestational age, Abnormal ventriculoarterial conne... |
ORPHA:860 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Congenital Factor Vii Deficiency |
|
Ovarian cyst, Menorrhagia |
ORPHA:327 |
Fucosidosis |
|
Spastic gait, Vacuolated lymphocytes, Scoliosis, Lumbar hyperlordosis, Hepatomegaly, Cervical pla... |
OMIM:230000 |
Attrv122I Amyloidosis |
|
Left ventricular hypertrophy, Anemia, Cardiac amyloidosis, Spinal canal stenosis, Restrictive car... |
ORPHA:85451 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Hepatomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Cardiomegaly, Letha... |
OMIM:212140 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Reticulocytosis, Abnormal proportion of CD4... |
ORPHA:3261 |
Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... |
OMIM:305400 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Diabetes insipidus, Testicular atrophy, Hypothyroidism |
OMIM:222300 |
Netherton Syndrome |
|
Hypereosinophilia, Failure to thrive |
OMIM:256500 |
Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms |
OMIM:614874 |
Hypoplasminogenemia |
|
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology |
ORPHA:722 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Failure to thrive, Eosinophilia, Lethargy, Weight loss |
ORPHA:199299 |
Leopard Syndrome 1 |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Micropenis, Delayed menarche, Aplasia o... |
OMIM:151100 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Testicular atrophy, Primary amenorrhea, Hypergonadotropic hypogo... |
OMIM:157640 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Cryptorchidism, Micropenis, Clitoral hypertrophy, Urogenital sinus anomaly, Streak ovary, Uterus ... |
OMIM:618820 |
Lipe-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Abnormal labia majora morphology, Dec... |
ORPHA:435660 |
Ciliary Dyskinesia, Primary, 14 |
|
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... |
OMIM:613807 |
Cidec-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Decreased serum leptin, Decreased adiponectin level, Insulin-... |
ORPHA:435651 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Limb ataxia, Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Truncal ataxia |
OMIM:619051 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Distal arthrogryposis, Hepatomegaly, Cachexia, Cardiomegaly, Lethargy |
ORPHA:42 |
Angiostrongyliasis |
|
Hypereosinophilia, Irritability |
ORPHA:74 |
Fucosidosis |
|
Lipoatrophy, Hepatomegaly, Kyphosis, Failure to thrive, Anterior beaking of lumbar vertebrae, Car... |
ORPHA:349 |
Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Scoliosis, Gait disturbance, Umbilical hernia, Eosinophilia, Spina bifid... |
ORPHA:464 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie... |
ORPHA:90301 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Increased size of the clitoris, Primary amenorrhea, Ambiguous genitalia, Fused l... |
ORPHA:95699 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Small for gestational age, Failure to thrive, Pericardial effusion, Hypertrophic cardiomyopathy, ... |
OMIM:614702 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoplasia of the uterus, Epididymal cyst, Atretic vas ... |
OMIM:137920 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
Mucoepithelial Dysplasia, Hereditary |
|
Cor pulmonale, Eosinophilia |
OMIM:158310 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Cyclic Neutropenia |
|
Decreased eosinophil count, Lymphopenia, Thrombocytopenia, Perianal abscess, Cellulitis, Cyclic n... |
ORPHA:2686 |
Idiopathic Hypereosinophilic Syndrome |
|
Hepatosplenomegaly, Myeloproliferative disorder, Leukocytosis, Anemia, Myocardial eosinophilic in... |
ORPHA:3260 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia, Hemivertebrae, Scarring, Kyphoscoliosis |
OMIM:308300 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Perimembranous ventricular septal defect |
OMIM:619170 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Cardiomegaly, Bacterial endocarditis |
ORPHA:615 |
Bardet-Biedl Syndrome 1 |
|
Decreased testicular size, Micropenis, Hypogonadism, Abnormality of the ovary, Diabetes mellitus,... |
OMIM:209900 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia |
ORPHA:85450 |
Mulibrey Nanism |
|
Hepatomegaly, Enamel hypoplasia, Pericardial constriction, Myocardial fibrosis, Cardiomegaly |
OMIM:253250 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility |
ORPHA:2239 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse,... |
ORPHA:555874 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Tetralogy of Fallot, Atrial septal defect, Atrioventricular can... |
OMIM:274000 |
Mccune-Albright Syndrome |
|
Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increas... |
ORPHA:562 |
46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Scoliosis |
ORPHA:3137 |
Coccidioidomycosis |
|
Abnormality of the vertebral column, Abscess, Granuloma, Eosinophilia, Abnormality of the spleen,... |
ORPHA:228123 |
Iga Pemphigus |
|
Cutaneous abscess, Eosinophilia |
ORPHA:555905 |
Fixed Subaortic Stenosis |
|
Pulmonic stenosis, Bacterial endocarditis, Ventricular septal defect, Atrioventricular canal defe... |
ORPHA:3092 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Short neck, Severe platyspondyly, Cardiomegaly, Dysplastic sacrum |
OMIM:613320 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Ventricular septal defect, Short neck, Platyspondyly, Hypertrophic car... |
OMIM:616897 |
Cantú Syndrome |
|
Ovoid vertebral bodies, Short neck, Umbilical hernia, Abnormal heart valve morphology, Platyspond... |
ORPHA:1517 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis |
OMIM:619321 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Atrial septal defect, Atriove... |
OMIM:306955 |
Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Cardiomegaly, Patent foramen ovale, Ventricular septal defect |
OMIM:618652 |
Beck-Fahrner Syndrome |
|
Cardiomegaly, Depression, Anxiety, Ventricular septal defect |
OMIM:618798 |
Carnitine Palmitoyltransferase I Deficiency |
|
Cardiomegaly, Lethargy, Hepatomegaly |
OMIM:255120 |
Developmental And Epileptic Encephalopathy 95 |
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Scoliosis, Inability to walk, Gait disturbance, Ataxia, Inguinal hernia, Arthrogryposis multiplex... |
OMIM:618143 |
Tropical Endomyocardial Fibrosis |
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Left atrial enlargement, Right ventricular cardiomyopathy, Coronary artery stenosis, Hepatomegaly... |
ORPHA:75565 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pheochromocytoma, Paraganglioma, Papillary cystadenoma of the epididymi... |
OMIM:193300 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
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Inability to walk, Tip-toe gait, Right ventricular hypertrophy, Spinal rigidity, Cardiomegaly, Hy... |
ORPHA:268 |
Ciliary Dyskinesia, Primary, 19 |
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Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Amyloidosis, Hereditary, Transthyretin-Related |
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Limb ataxia, Ataxia, Cardiomyopathy, Anxiety, Cardiomegaly, Truncal ataxia |
OMIM:105210 |
Igg4-Related Pachymeningitis |
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Abnormality of the cervical spine, Low back pain, Eosinophilia |
ORPHA:449427 |
Fanconi Anemia, Complementation Group A |
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Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism |
OMIM:227650 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Refsum Disease, Classic |
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Cardiomyopathy, Cardiomegaly, Ataxia |
OMIM:266500 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Hepatomegaly, Ventricular hypertrophy, Right atrial enlargement, Muscular ventricular septal defe... |
OMIM:115197 |
Cushing Disease |
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Emotional lability, Dorsocervical fat pad, Leukocytosis, Suicidal ideation, Truncal obesity, Lymp... |
ORPHA:96253 |
Gaucher Disease, Perinatal Lethal |
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Hepatosplenomegaly, Apathy, Anemia, Hepatomegaly, Thrombocytopenia, Akinesia, Arthrogryposis mult... |
OMIM:608013 |
Diphallia |
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Rectoperineal fistula, Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Bifid ... |
ORPHA:227 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly, Anemia |
OMIM:618838 |
Hsd10 Disease, Infantile Type |
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Cardiomegaly, Loss of ambulation, Choreoathetosis, Hypertrophic cardiomyopathy |
ORPHA:391428 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
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Cardiomegaly, Lethargy, Hepatomegaly, Hypertrophic cardiomyopathy |
OMIM:201475 |
Idiopathic Pulmonary Hemosiderosis |
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Hepatosplenomegaly, Hepatomegaly, Failure to thrive, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Craniofaciofrontodigital Syndrome |
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Scoliosis, Atrial septal defect, Ventricular septal defect, Abnormal heart valve morphology, Bicu... |
ORPHA:363705 |
Familial Adenomatous Polyposis 4 |
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Ovarian cyst, Thyroid adenoma, Uterine leiomyoma |
OMIM:617100 |
Coronary Arterial Fistula |
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Bacterial endocarditis, Atrial septal defect, Abnormal heart morphology, Bicuspid aortic valve, A... |
ORPHA:2041 |
Pseudo-Torch Syndrome 3 |
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Cardiomegaly, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Carney Complex |
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Abnormal morphology of female internal genitalia, Euthyroid multinodular goiter, Increased circul... |
ORPHA:1359 |
Complete Atrioventricular Septal Defect |
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Abnormal cardiac atrium morphology, Primum atrial septal defect, Hepatomegaly, Complete atriovent... |
ORPHA:1329 |
Alg9-Cdg |
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Hypoplastic nipples, Hypoplasia of the ovary, Bicornuate uterus |
ORPHA:79328 |
Lethal Congenital Contracture Syndrome 10 |
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Hypoplasia of the thymus, Ventricular septal defect, Short neck, Omphalocele, Overriding aorta, T... |
OMIM:617022 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Anisocytosis, Leukocytosis, Reticulocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Timothy Syndrome |
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Cardiomegaly, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect |
OMIM:601005 |
Immunodeficiency 89 And Autoimmunity |
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Hypochromic microcytic anemia, Decreased eosinophil count |
OMIM:619632 |
Ovarian Hyperstimulation Syndrome |
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Increased serum testosterone level, Ovarian cyst, Increased circulating gonadotropin level, Enlar... |
ORPHA:64739 |
Wiskott-Aldrich Syndrome |
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Impaired lymphocyte transformation with phytohemagglutinin, Absent microvilli on the surface of p... |
OMIM:301000 |
Sickle Cell Disease |
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Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Hepatomegaly, Cardiomegaly, Spl... |
OMIM:603903 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Splenomegaly, Pancytopenia, Cardiomegaly, Mitral stenos... |
OMIM:231005 |
Mucolipidosis Ii Alpha/Beta |
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Camptodactyly, Inguinal hernia, Enlarged kidney, Ovoid vertebral bodies, Lumbar scoliosis, Umbili... |
OMIM:252500 |
Mucopolysaccharidosis Type 3 |
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Scoliosis, Gait disturbance, Inguinal hernia, Ataxia, Umbilical hernia, Abnormal mitral valve mor... |
ORPHA:581 |
Isolated Right Ventricular Hypoplasia |
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Atrial septal defect, Right atrial enlargement, Muscular ventricular septal defect, Patent forame... |
ORPHA:439 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Viss Syndrome |
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Hypereosinophilia, Scoliosis, Butterfly vertebrae, Inguinal hernia, Ventricular septal defect, At... |
OMIM:619472 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Scoliosis, Inguinal hernia, Atrial septal defect, Short neck, Left ventricular hypertrophy, Platy... |
OMIM:245600 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Scoliosis, Left ventricular noncompaction cardiomyopathy, Slender build, Ataxia, Atrial septal de... |
OMIM:300967 |
Von Hippel-Lindau Disease |
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Pancreatic endocrine tumor, Elevated circulating catecholamine level, Neoplasm of the pancreas, P... |
ORPHA:892 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
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Lumbar hemivertebrae, Loss of truncal subcutaneous adipose tissue, Cardiomegaly, Eunuchoid habitus |
ORPHA:2463 |
Aorta Coarctation |
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Hypoplastic left heart, Tetralogy of Fallot, Perimembranous ventricular septal defect, Aortic val... |
ORPHA:1457 |
Mogs-Cdg |
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Hepatosplenomegaly, Left ventricular hypertrophy, Atrial septal defect, Hepatomegaly, Thrombocyto... |
ORPHA:79330 |
Combined Oxidative Phosphorylation Deficiency 33 |
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Cardiomyopathy, Cardiomegaly, Hepatomegaly, Left ventricular hypertrophy |
OMIM:617713 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
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Hepatosplenomegaly, Camptodactyly of finger, Camptodactyly, Pulmonic stenosis, Atrial septal defe... |
OMIM:602782 |
Sandhoff Disease |
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Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Ataxia |
OMIM:268800 |
Abetalipoproteinemia |
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Reticulocytosis, Ataxia, Anemia, Steppage gait, Hepatomegaly, Acanthocytosis, Failure to thrive, ... |
ORPHA:14 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
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Secundum atrial septal defect, Inability to walk, Atrial septal defect, Ventricular septal defect... |
OMIM:620066 |
Sarcoidosis |
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Leukopenia, Hemolytic anemia, Anemia, Hepatomegaly, Eosinophilia, Thrombocytopenia, Scarring, Inc... |
ORPHA:797 |
X-Linked Intellectual Disability, Snyder Type |
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Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias |
ORPHA:3063 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Enlarged kidney, Knee flexion contracture, Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Le... |
OMIM:608836 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
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Pancreatic adenocarcinoma, Ovarian cyst, Endometrial carcinoma |
ORPHA:454840 |
Primary Ciliary Dyskinesia |
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Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Steinert Myotonic Dystrophy |
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Secondary hyperparathyroidism, Testicular atrophy, Decreased serum testosterone concentration, Di... |
ORPHA:273 |
Igg4-Related Kidney Disease |
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Pericarditis, Eosinophilia, Enlarged kidney, Weight loss |
ORPHA:449395 |
Aicardi-Goutières Syndrome |
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Hepatosplenomegaly, Scoliosis, Difficulty walking, Chronic lymphatic leukemia, Lipoatrophy, Neona... |
ORPHA:51 |
Lymphatic Filariasis |
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Hypereosinophilia |
ORPHA:2035 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Emotional lability, Dorsocervical fat pad, Leukocytosis, Suicidal ideation, Truncal obesity, Anxi... |
ORPHA:99889 |
Schinzel-Giedion Syndrome |
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Micropenis, Central hypothyroidism, Streak ovary, Annular pancreas, Hypospadias |
ORPHA:798 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Cardiomegaly, Right atrial enlargement |
OMIM:614473 |
Cirrhotic Cardiomyopathy |
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Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial enlargement, Ca... |
ORPHA:57777 |
Ciliary Dyskinesia, Primary, 1 |
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Absent outer dynein arms, Male infertility |
OMIM:244400 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Decreased circulating dehydroepiandrosterone concentration, Ambiguous genitalia, Primary amenorrh... |
OMIM:201750 |
Bloom Syndrome |
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Premature ovarian insufficiency, Diabetes mellitus, Azoospermia, Male infertility, Oligospermia |
ORPHA:125 |
Familial Aortic Dissection |
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Cardiomegaly |
ORPHA:229 |
Danon Disease |
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Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myocardial fibrosis, Ca... |
OMIM:300257 |
Igg4-Related Submandibular Gland Disease |
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Eosinophilia |
ORPHA:449432 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Scoliosis, Inability to walk, Difficulty walking, Left ventricular hypertrophy, Hepatomegaly, Fai... |
ORPHA:365 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
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Left ventricular hypertrophy, Hepatomegaly, Failure to thrive, Hypertrophic cardiomyopathy, Cardi... |
ORPHA:308552 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... |
ORPHA:99413 |
Turner Syndrome |
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Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... |
ORPHA:881 |
Mosaic Monosomy X |
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Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... |
ORPHA:99228 |
Monosomy X |
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Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Gonadoblastoma, Abnormality... |
ORPHA:99226 |
Bohring-Opitz Syndrome |
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Bilateral wrist flexion contracture, Inability to walk, Cardiomegaly, Congenital contracture, Hap... |
ORPHA:97297 |
Floating-Harbor Syndrome |
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Cryptorchidism, Varicocele, Glandular hypospadias, Epididymal cyst, Hypospadias |
OMIM:136140 |
Leigh Syndrome With Nephrotic Syndrome |
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Cardiomegaly |
ORPHA:255249 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Abnormal h... |
OMIM:601214 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia |
ORPHA:449563 |
Glycogen Storage Disease Ii |
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Cardiomegaly, Hepatomegaly, Splenomegaly, Difficulty walking |
OMIM:232300 |
Ogden Syndrome |
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Secundum atrial septal defect, Scoliosis, Inguinal hernia, Polycythemia, Left atrial enlargement,... |
OMIM:300855 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... |
OMIM:261740 |
Congenital Disorder Of Glycosylation, Type It |
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Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect |
OMIM:614921 |
Lethal Acantholytic Erosive Disorder |
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Camptodactyly of toe, Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
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Inguinal hernia, Scoliosis, Abnormality of connective tissue, Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Primary Sclerosing Cholangitis |
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Hepatosplenomegaly, Hepatomegaly, Histiocytosis, Depression, Splenomegaly, Abnormal eosinophil mo... |
ORPHA:171 |
Wiskott-Aldrich Syndrome |
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Hypoplasia of the thymus, Hemolytic anemia, Anemia, Lymphopenia, Microcytic anemia, Chronic leuke... |
ORPHA:906 |
Floating-Harbor Syndrome |
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Cryptorchidism, Varicocele, Epididymal cyst, Hypospadias, Precocious puberty |
ORPHA:2044 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Camptodactyly of finger, Lipodystrophy, Adipose tissue loss, Flexion contracture of toe, Hepatome... |
OMIM:256040 |
Congenital Tracheomalacia |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Abnormal hear... |
ORPHA:95430 |
Dermatomyositis |
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Myocarditis, Chondrocalcinosis, Cellulitis, Pericarditis, Abnormal eosinophil morphology, Weight ... |
ORPHA:221 |
Histiocytoid Cardiomyopathy |
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Ventricular septal defect, Hepatomegaly, Failure to thrive, Cardiomegaly, Lethargy |
ORPHA:137675 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Cardiomyopathy, Cardiomegaly, Abnormal myocardium morphology, Hepatomegaly |
ORPHA:228308 |
Williams Syndrome |
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Scoliosis, Inguinal hernia, Tetralogy of Fallot, Ventricular septal defect, Atrial septal defect,... |
ORPHA:904 |
Noonan Syndrome 1 |
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Cryptorchidism, Male infertility, Hypogonadism, Hypospadias |
OMIM:163950 |
Truncus Arteriosus |
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Hypoplasia of the thymus, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Ventricul... |
ORPHA:3384 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Cardiomegaly, Dilated cardiomyopathy |
OMIM:208000 |
Absence Of The Pulmonary Artery |
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Tetralogy of Fallot, Atrial septal defect, Abnormal cardiac septum morphology, Abnormal heart mor... |
ORPHA:980 |
Liver Disease, Severe Congenital |
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Inguinal hernia, Leukopenia, Left atrial enlargement, Atrial septal defect, Ventricular septal de... |
OMIM:619991 |
Cystinosis, Nephropathic |
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Delayed puberty, Diabetes mellitus, Male infertility, Primary hypothyroidism, Male hypogonadism |
OMIM:219800 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Atrial septal dilatation, Hepatomegaly, Right atrial enlargement, Right ventricular hypertrophy, ... |
ORPHA:1677 |
Paternal Uniparental Disomy Of Chromosome 6 |
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Umbilical hernia, Cardiomegaly, Hepatomegaly, Ventricular septal defect |
ORPHA:96191 |
Beckwith-Wiedemann Syndrome |
|
Inguinal hernia, Polycythemia, Enlarged kidney, Umbilical hernia, Hepatomegaly, Splenomegaly, Omp... |
ORPHA:116 |
Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Cardiomyopathy, Hepatomegaly, Omphalocele, Cardiomegaly, Pancreatic hyperplasia |
OMIM:130650 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Atrial s... |
ORPHA:99125 |
Singleton-Merten Syndrome 1 |
|
Scoliosis, Subvalvular aortic stenosis, Mitral valve calcification, Aortic valve stenosis, Waddli... |
OMIM:182250 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Cardiomyopathy, Severe fail... |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
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Failure to thrive in infancy, Irritability, Ventricular hypertrophy, Pericardial effusion, Fused ... |
ORPHA:51608 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |