Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Ovarian Dysgenesis 10 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogonadism, Inferti... |
OMIM:240950 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Premature Ovarian Failure 17 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... |
OMIM:619146 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Premature Ovarian Failure 16 |
|
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... |
OMIM:618723 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... |
OMIM:300068 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Pituicytoma |
|
Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr... |
ORPHA:251623 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... |
OMIM:620311 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... |
OMIM:228300 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
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 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Short toe, Hyperinsuline... |
ORPHA:3085 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell ad... |
ORPHA:91348 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Tall stature, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated... |
ORPHA:99429 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm... |
ORPHA:99330 |
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 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Congenital Generalized Lipodystrophy |
|
Adipose tissue loss, Proportionate tall stature, Hepatic steatosis, Hepatomegaly, Bone cyst, Larg... |
ORPHA:528 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Abnormal ... |
ORPHA:314478 |
Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Obesity, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone l... |
ORPHA:247768 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... |
OMIM:300869 |
49,Xxxyy Syndrome |
|
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... |
ORPHA:261534 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... |
ORPHA:90796 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Premature Ovarian Failure 14 |
|
Elevated circulating luteinizing hormone level, Decreased serum estradiol, Elevated circulating f... |
OMIM:618014 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Ovarian Dysgenesis 8 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... |
OMIM:618187 |
Premature Ovarian Failure 2A |
|
Elevated circulating luteinizing hormone level, Premature ovarian insufficiency, Elevated circula... |
OMIM:300511 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycyst... |
ORPHA:1643 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
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, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Neoplasm of head and neck, Isosexual precocious ... |
ORPHA:180229 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
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 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating luteinizing hormone level, Elevated circulating follic... |
OMIM:619938 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... |
ORPHA:90795 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
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 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ovary, Aplasia/hypopla... |
ORPHA:2232 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... |
ORPHA:206484 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea |
OMIM:233300 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
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 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... |
OMIM:305400 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Reduced bone mineral density, Sex rever... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Reduced bone min... |
ORPHA:289548 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Tapered finger, Cryptorchidism, Obesity, Hypogonadism, Micropenis |
ORPHA:85274 |
Hyperprolactinemia |
|
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration |
OMIM:615555 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity, Infertility, Oligomenorrhea |
OMIM:604931 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Kyphosis, Joint hyperflexibility, Hypogonadism, Congenital muscular dy... |
ORPHA:1875 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... |
ORPHA:90794 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Ataxia-Telangiectasia |
|
Lymphopenia, Failure to thrive, Diabetes mellitus, Skeletal muscle atrophy, Polycystic ovaries, N... |
ORPHA:100 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Neutr... |
ORPHA:221008 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... |
ORPHA:453533 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... |
OMIM:615300 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, External genital hypoplasia, Obesity, Hypogonadism, Polydactyly, Micropenis, Brachyda... |
OMIM:615983 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Thrombocytopenia, Hydrocele testis, Slender long bone, Increased serum testoster... |
ORPHA:96181 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Cardiomegaly, Stiff interphalangeal joints, Hypothyroidism, Hepatomegaly, ... |
ORPHA:465508 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Short foot, Cryptorchidism, Obesity, Tapered finger |
OMIM:309585 |
46,Xx Sex Reversal 1 |
|
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... |
OMIM:400045 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Rudiger Syndrome |
|
Inguinal hernia, Flexion contracture, Ovarian cyst, Bicornuate uterus, Micropenis, Short digit |
OMIM:268650 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Kyphosis, Shor... |
OMIM:301900 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, C... |
OMIM:246200 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... |
ORPHA:2410 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Amenorrhea |
OMIM:184700 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Tapered finger, Small hand, 2-3 toe syndactyly, Poly... |
ORPHA:284180 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Lack of facial subcutaneous fat, Mic... |
ORPHA:2959 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Elevated alkaline phosphatase of bone origin, Hyperinsul... |
OMIM:615363 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Metrorrh... |
ORPHA:370348 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... |
OMIM:608709 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Proximal muscle weakness in upper lim... |
ORPHA:435660 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa... |
ORPHA:1772 |
Seckel Syndrome 5 |
|
11 pairs of ribs, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Simplified gyral patte... |
OMIM:613823 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Cerebellar atrophy, Elevated hepatic transaminase, Hypergonadotropic hypogonadism, Insulin-resist... |
OMIM:268020 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
46,Xx Gonadal Dysgenesis |
|
Osteopenia, Streak ovary, Premature ovarian insufficiency, Arachnodactyly, Increased circulating ... |
ORPHA:243 |
C Syndrome |
|
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Hepatomegaly, ... |
OMIM:211750 |
Preeclampsia |
|
Increased body mass index, Small for gestational age, Elevated circulating creatinine concentrati... |
ORPHA:275555 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scolio... |
OMIM:612847 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Small hand, Short foot, Truncal obesity, Hypogonadism, Failure to thrive, Decreas... |
ORPHA:261483 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Lipoatrophy, Decreased... |
ORPHA:157954 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, H... |
OMIM:262190 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Neoplasm of t... |
ORPHA:249 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicul... |
OMIM:614962 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... |
OMIM:618901 |
Seckel Syndrome 1 |
|
11 pairs of ribs, Ivory epiphyses, Pancytopenia, Hypospadias, Abnormal finger flexion crease, San... |
OMIM:210600 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Omphalocele, Accessory spleen, Small for gestational age, Diastasis recti, Elevated circulating l... |
OMIM:618419 |
Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyperinsulinemia, Polycystic ovaries, Hepatic steat... |
ORPHA:79084 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Decreased muscle mass, Hypospadias, Failure to thrive in ... |
ORPHA:813 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Aplastic anemia, Patellar hypoplasia, Squamous cell carcinoma, Facial erythema, Neutr... |
ORPHA:221016 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Distal Deletion 10P |
|
Hypoplasia of penis, Short neck, Joint stiffness, Cryptorchidism, Polycystic ovaries, Clinodactyl... |
ORPHA:1580 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Pparg-Related Familial Partial Lipodystrophy |
|
Dysmenorrhea, Maternal diabetes, Hepatic steatosis, Loss of facial adipose tissue, Hepatomegaly, ... |
ORPHA:79083 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Metatarsus adductus, Cryptorchi... |
OMIM:214110 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... |
OMIM:269700 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Premature ovarian insufficiency, Hypopl... |
ORPHA:3464 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Perianal erythema, Splenomegaly, Dry skin, Decreased serum zinc, Hypogonadism, Peri... |
OMIM:201100 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Generalized muscular appearance from birth... |
OMIM:608594 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia |
OMIM:615703 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Miscarriage, Female infertility |
OMIM:619176 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ... |
ORPHA:1227 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Hypoalbuminemia, Abn... |
ORPHA:2298 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the testes, Hernia of the abd... |
ORPHA:3055 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... |
ORPHA:2348 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy, Ulnar radial head dislocation |
OMIM:264270 |
Bardet-Biedl Syndrome 6 |
|
Vaginal atresia, Diabetes mellitus, Hypospadias, External genital hypoplasia |
OMIM:605231 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... |
ORPHA:3044 |
Tetragametic Chimerism |
|
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... |
ORPHA:199310 |
Frasier Syndrome |
|
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma |
OMIM:136680 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abnormality of the testis size, Perit... |
ORPHA:400 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism, Polyd... |
OMIM:615982 |
Werner Syndrome |
|
Skeletal muscle atrophy, Squamous cell carcinoma, Neoplasm, Thyroid carcinoma, Sarcoma, Renal neo... |
ORPHA:902 |
Estrogen Resistance Syndrome |
|
Osteopenia, Enlarged polycystic ovaries, Delayed epiphyseal ossification, Increased circulating g... |
ORPHA:785 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Moynahan Syndrome |
|
Hypogonadism, Cachexia |
ORPHA:2574 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Satoyoshi Syndrome |
|
Hyperlordosis, Nephrogenic diabetes insipidus, Tapered finger, Abnormality of the humerus, Genu v... |
ORPHA:3130 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... |
ORPHA:347 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Precocious puberty, Hypothyroidism, Insuli... |
ORPHA:769 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal morphology of ulna, Short neck, Obesity, Decreased fertility, Hypogonadism, Abnormal met... |
ORPHA:2233 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Obesity, Renal cyst, Polydactyly, Hypogonadism |
OMIM:615993 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... |
ORPHA:523 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, ... |
OMIM:158350 |
Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Jaundice, Primary adrena... |
ORPHA:912 |
Mcdonough Syndrome |
|
Cachexia, Cryptorchidism, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis |
ORPHA:2471 |
Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Osteoporosis, Primary amenorrhea, Gonadal dysgenesis, T... |
OMIM:233400 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... |
ORPHA:85282 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Gastrointestinal he... |
ORPHA:440437 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Luscan-Lumish Syndrome |
|
Overgrowth, Irregular menstruation, Obesity, Polycystic ovaries |
OMIM:616831 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hydrocele t... |
OMIM:615109 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... |
OMIM:278850 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Dysmenorrhea, Elevated circulating creatine kinase concentration, Increa... |
ORPHA:264580 |
Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hypothalamic hamartoma, Abnormal response... |
ORPHA:649929 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95512 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... |
ORPHA:93921 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Short neck, Abnormality of the thyroid gla... |
ORPHA:2234 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Acroosteolysis of distal phalanges (feet),... |
ORPHA:280365 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Kyphosis, Thyroiditis, Breast carcinoma, Hydrocele testis, Ovarian cyst, Hamarto... |
OMIM:615108 |
Diencephalic Syndrome |
|
Cachexia, Long penis, Hyperhidrosis, Large hands, Neoplasm of the nervous system, Decreased body ... |
ORPHA:1672 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Diabetes mellitus, Hypospadias, Cachexia, Joint stiffness, Abnormal thum... |
ORPHA:3242 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... |
OMIM:602668 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Panhypophysitis |
|
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... |
ORPHA:95513 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
X-Linked Intellectual Disability, Siderius Type |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85287 |
46,Xy Sex Reversal 5 |
|
Sex reversal, Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Cachexia, Short ne... |
ORPHA:85293 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Diabetes ins... |
ORPHA:97229 |
Aromatase Deficiency |
|
Osteopenia, Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic ... |
ORPHA:91 |
Meier-Gorlin Syndrome 1 |
|
Flexion contracture, Hemivertebrae, Flat glenoid fossa, Cutaneous finger syndactyly, Short palm, ... |
OMIM:224690 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Hydrometrocolpos, Vaginal atresia |
OMIM:615989 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Short neck, Obesity, Azoospermia, Abnormality of the hypothalamus... |
ORPHA:2183 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Thrombocytopenia, Micronodular... |
OMIM:606003 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Solitary Fibrous Tumor |
|
Vaginal neoplasm, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the lung, Neoplasm of the n... |
ORPHA:2126 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Micropenis, Syndactyly, Nephrogenic diabetes insipidus, Obesity, Postaxial foot... |
OMIM:209900 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... |
ORPHA:163634 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Obesity, Delaye... |
OMIM:300148 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Cachexia, Testicular neop... |
ORPHA:83469 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Hypertriglyceridemia, Dysmenorrhea, Elevated circulating c... |
ORPHA:79240 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Skeletal muscle atrophy, Sh... |
ORPHA:110 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Prematu... |
OMIM:241080 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... |
ORPHA:157798 |
Thyroid Cancer, Nonmedullary, 4 |
|
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter |
OMIM:616534 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Recurrent fractures, Camptodactyly of finger, Short neck, Cr... |
ORPHA:3409 |
48,Xxyy Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Ulnar deviation of the hand, Hypospadias, Rocker b... |
OMIM:214100 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit... |
ORPHA:2975 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... |
ORPHA:145 |
Paternal Uniparental Disomy Of Chromosome X |
|
Decreased testicular size, Micropenis, Infertility |
ORPHA:261524 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Hypoplastic ili... |
ORPHA:85201 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Premature ovarian insufficiency |
ORPHA:101006 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Prematur... |
ORPHA:398079 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Kyp... |
ORPHA:65759 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Cryptorchidism, Kyphosis, Flexi... |
OMIM:615547 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Cryptorchidism, Pancreatic lympha... |
ORPHA:1655 |
Meier-Gorlin Syndrome 3 |
|
Absent sternal ossification, Small scrotum, Hypospadias, Aplasia/Hypoplasia of the patella, Crypt... |
OMIM:613803 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:98754 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
Seckel Syndrome 7 |
|
Abnormal carpal morphology, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus,... |
OMIM:614851 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Osteomalacia, Camptodactyly of finger, Recurrent fractures, Joint stiffness, Short ne... |
ORPHA:2176 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... |
OMIM:610628 |
Wilson-Turner Syndrome |
|
Hypogonadotropic hypogonadism, Tapered finger, Cryptorchidism, Small hand, Short foot, Truncal ob... |
ORPHA:3459 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestatio... |
OMIM:269880 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... |
ORPHA:95619 |
Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Splenic rupture, Clubbing of fingers, Left ventricular hypertrophy, Mic... |
ORPHA:335 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Distal lower limb amyotrophy, Hypospadias, Sandal gap, Cryptorchidism, Kyphosis, Sm... |
OMIM:300354 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, Obesity, 2-3 toe syndactyly, Hypogonadism, Polydactyly, Clinodactyly |
OMIM:615984 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:98793 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Ovarian Cancer |
|
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma |
OMIM:167000 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:177904 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Foot dorsiflexor weakness, Hypergonadotropic hypogonadism, Hypogonadotropi... |
ORPHA:298 |
46,Xy Sex Reversal 6 |
|
Hypospadias, Sex reversal, Gonadal dysgenesis, Chordee, Dysgerminoma, Gonadoblastoma, Clitoral hy... |
OMIM:613762 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... |
ORPHA:478 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... |
ORPHA:137686 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, External genital hypoplasia, Small hand, Obesity, Short foot, Abno... |
ORPHA:177910 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, Renal cyst, Pachygyria, Intrahepatic biliary dysgenesis, Hepatomeg... |
OMIM:614866 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Myelodysplasia, Thrombocytopenia, Hypoplasia of the u... |
OMIM:619151 |
Pituitary Gigantism |
|
Tall stature, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Incre... |
ORPHA:99725 |
Testicular Anomalies With Or Without Congenital Heart Disease |
|
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... |
OMIM:615542 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Knee flexion contractur... |
ORPHA:3103 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Cryptorchidism, Congenital hepatic fibrosis, Obesity, Han... |
ORPHA:2377 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Decreased muscle ma... |
ORPHA:3041 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi... |
ORPHA:96184 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Hypoplastic pubic bone, Hepatosplenomegaly, Decreased calvarial ossification, Sho... |
OMIM:614592 |
Aica-Ribosiduria |
|
Fused labia minora, Clitoral hypertrophy |
ORPHA:250977 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Laryngeal carcinoma, Ovotestis, C... |
OMIM:610644 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Kyphoscoliosis, Joint stiffness, Cryptorchidi... |
OMIM:618820 |
Meier-Gorlin Syndrome 7 |
|
Joint laxity, 2-4 finger syndactyly, Hypospadias, Craniosynostosis, Sagittal craniosynostosis, Bo... |
OMIM:617063 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Seckel Syndrome 9 |
|
Small for gestational age, Congenital diaphragmatic hernia, Agonadism, Simplified gyral pattern, ... |
OMIM:616777 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased muscle mass, Small scrotum, External genital hypoplasia, Decreased response... |
OMIM:176270 |
Meningioma |
|
Back pain, Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neo... |
ORPHA:2495 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bone... |
ORPHA:371428 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur m... |
ORPHA:1328 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Postaxial hand polydactyly, Obesity, Postaxial fo... |
OMIM:615981 |
Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence of pubertal development, Primary ame... |
OMIM:212840 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Hemivertebrae, Clitoral hypoplasia, Webbed penis, Mic... |
ORPHA:97360 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Postaxial foot polydactyly, Polydactyly, Hypogonadism |
OMIM:617119 |
Meier-Gorlin Syndrome 2 |
|
Clitoral hypertrophy, Patellar aplasia, Hypoplastic labia majora, Slender long bone, Labial hypop... |
OMIM:613800 |
Familial Adenomatous Polyposis 4 |
|
Astrocytoma, Renal cyst, Ovarian cyst, Uterine leiomyoma, Thyroid adenoma |
OMIM:617100 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Squamous cell carcinoma, Neutropenia, ... |
ORPHA:2909 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
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 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ... |
OMIM:236700 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Craniosynostosis, Aplastic clavicle, E... |
ORPHA:2554 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
Prolactinoma |
|
Osteopenia, Pallor, Male hypogonadism, Hypogonadotropic hypogonadism, Osteoporosis, Decreased fer... |
ORPHA:2965 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hepat... |
OMIM:151660 |
Wagr Syndrome |
|
Cryptorchidism, Obesity, Scoliosis, Ambiguous genitalia, Displacement of the urethral meatus |
ORPHA:893 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Erythrokeratodermia Variabilis |
|
Diabetes mellitus, Tapered finger, Erythema, Dry skin, Weight loss, Neoplasm of the skin, Abnorma... |
ORPHA:317 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
Clark-Baraitser syndrome |
|
Joint laxity, Tapered finger, Kyphosis, Obesity, Genu valgum, Scoliosis, Short palm, Macroorchidi... |
OMIM:300602 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Clinodactyly of the 5th finger, Abnormal dental e... |
ORPHA:96263 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, R... |
OMIM:150800 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Failure to thrive, Arachnodactyly, Clitoral hypertrophy |
ORPHA:2707 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Finger syndactyly, Congenital hip dislocation, Hypospadias, Toe syndactyly, Cachex... |
ORPHA:217346 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... |
ORPHA:330015 |
Meacham Syndrome |
|
Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu... |
ORPHA:3097 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Ovarian neoplasm, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system |
ORPHA:2221 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Inguinal hernia, Hyperparathyroidism, Short femur, Recurrent fractures, Metaphyseal s... |
OMIM:618188 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Wide penis, Hypoplastic verteb... |
ORPHA:3455 |
Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Mesoaxial hand polydactyly, Postaxial polydactyly, Obesity, Postaxia... |
OMIM:615996 |
Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
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 |
Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Vaginal atresia |
ORPHA:3301 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:739 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Short neck, Cryptorchidism, Small hand, Short foot, ... |
OMIM:300882 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Short neck, Elevated circulating thyroid-stimulating hormone concentration, Ost... |
OMIM:612462 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Small hand, Obesity, Short foot, Scolio... |
ORPHA:254531 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
Satoyoshi Syndrome |
|
Short metacarpal, Brachydactyly, Short metatarsal, Osteolytic defects of the phalanges of the han... |
OMIM:600705 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Reticulocytopenia, Anisopoikilocytosis, Hepatosplen... |
ORPHA:300298 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Cryptorchidism, Short metatarsal, Spinal canal ... |
OMIM:614613 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short neck, Short toe, Osteoporosis, Pseudohypoparathyroidism, Obesity, Short m... |
OMIM:103580 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hyponatremia, Clitoral hypertrophy, Fused labia minora |
OMIM:608688 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Astrocytom... |
ORPHA:79086 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Facial hypotonia, Kyphoscoliosis, Short neck, Flexion contracture, Small hand, Obesity, Scoliosis... |
OMIM:300055 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Toe syndactyly, Small for gestational age, Septate vagina, Craniosynostosis, 4-5 to... |
OMIM:300707 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... |
OMIM:110100 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Scoliosis, Periventricular nodular h... |
OMIM:619737 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Gestational Choriocarcinoma |
|
Metrorrhagia, Miscarriage, Choriocarcinoma, Neoplasm, Trophoblastic tumor |
ORPHA:99926 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Recurrent fractures, Hypercalcemia, Splenomegaly, Primary hyperparathyr... |
OMIM:239200 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Overgrowth of external genit... |
ORPHA:508 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Visceral angiomatosis, Ovarian neoplasm, Reduced bone mineral density, Exces... |
ORPHA:137608 |
Leiomyoma Of Vulva And Esophagus |
|
Clitoral hypertrophy |
OMIM:150700 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Hypospadias, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clitoral hypertrophy |
OMIM:616449 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Intestinal ble... |
OMIM:175200 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Chung-Jansen Syndrome |
|
Tapered finger, Cryptorchidism, Obesity, Hip dysplasia, Clinodactyly of the 5th finger, Joint hyp... |
OMIM:617991 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Clitoral hypertrophy, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the... |
ORPHA:313855 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Failure to thrive, Abnormal mitochondrial shape, Clitoral hypertrophy |
ORPHA:543470 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Xerostomia, Increase... |
ORPHA:398069 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Hypoplasia of the thymus, Generalized amyotrophy, Genu varum, Lo... |
OMIM:264090 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Cryptorchidism, Thrombocytopenia, Hyp... |
OMIM:614857 |
Subependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251639 |
Ependymoma |
|
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... |
ORPHA:251636 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Renal cyst, Uterine leiom... |
ORPHA:480536 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Hypoplastic labia minora, Flexion contracture, Hypoplastic labia majora, Talipes equ... |
OMIM:619124 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... |
OMIM:618484 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Decreased response to growth hormone stimulation test... |
ORPHA:94089 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Cryptorchidism, Kyphos... |
OMIM:618393 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Large hands, Gonadal dysgenesis, Umbilical hernia, Broad thumb, Brachydactyly |
ORPHA:1770 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... |
ORPHA:314473 |
Behavioral Variant Of Frontotemporal Dementia |
|
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Astrocytosis, Frontotempo... |
ORPHA:275864 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, Clino... |
OMIM:201000 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Skeletal muscle atrophy, Fasting hyperinsulinemia, Reduced bone mineral d... |
ORPHA:79474 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Macrodactyly, 2-4 toe syndactyly, Abnormality of the lymphatic system, Hydrocele tes... |
ORPHA:276280 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Cryptorchidism, Centrally... |
ORPHA:486815 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t... |
ORPHA:3138 |
Megalencephaly |
|
Short neck, Long penis, Genu valgum, Truncal obesity, Macroorchidism |
ORPHA:2477 |
Fanconi Anemia, Complementation Group S |
|
Proximal placement of thumb, Breast carcinoma, Ovarian neoplasm, Ovarian carcinoma, Clinodactyly,... |
OMIM:617883 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity, Scoliosis, Abnormal metacarpal morphology |
ORPHA:1742 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... |
ORPHA:276399 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Obesity, Postaxial polydactyly |
OMIM:615985 |
Borjeson-Forssman-Lehmann Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Shor... |
ORPHA:127 |
Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Irregular vertebral endplates, Elevated circulating parathyroid hormone level, ... |
ORPHA:439822 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Cryptorchidism, Obesity,... |
ORPHA:171839 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Cryptorchidism, Obesity, Short long bone, Horizontal ribs, Brachydactyly |
OMIM:615633 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Hypospadias, Arachnodactyly, Joint stiffness, Kyphosis, Scoliosis, Abnormal testis morphology |
ORPHA:1548 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
X-Linked Intellectual Disability, Abidi Type |
|
Decreased testicular size |
ORPHA:85273 |
Intellectual Developmental Disorder, X-Linked 92 |
|
Decreased testicular size |
OMIM:300851 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Hypoplastic sacrum, Diabetes mellitus, Small for gestational age, R... |
OMIM:614813 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Exostoses, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ova... |
ORPHA:2969 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, Cryptorchidism, Facial diplegi... |
OMIM:611890 |
Ring Chromosome 12 Syndrome |
|
Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Hemangioma, Hypothyroidism, Breast hypo... |
ORPHA:1439 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, Calcinosis, Hepatomegaly, Short clavicles, Short distal phalanx ... |
OMIM:248370 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hepatic steatosis, Hypospadias, Sandal gap, Craniosynostosis... |
ORPHA:254346 |
O'Donnell-Luria-Rodan Syndrome |
|
Cryptorchidism, Prolonged neonatal jaundice, Kyphosis, Tapered finger |
OMIM:618512 |
Pituitary Apoplexy |
|
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
ORPHA:95613 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Pallor... |
ORPHA:91347 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... |
ORPHA:99880 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fatty replacement of skeletal muscle, Elevated circulating thyroid-stimulating hormone concentrat... |
ORPHA:171706 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea,... |
OMIM:600955 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Ovoid thoracolumbar vertebrae, Phocomelia, Abnormal penis morpholo... |
ORPHA:3404 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
Perrault Syndrome 5 |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:616138 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Increased circulating A... |
OMIM:614736 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Failure to thrive, Hypospadias, Abnormal dental enamel ... |
ORPHA:2556 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Cardiomegaly, Abnormal finger m... |
ORPHA:3472 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Polydipsia, Renal hamartoma, Testicular neoplasm, Shortened QT interva... |
ORPHA:143 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Osteoporosis, Increased susceptibili... |
ORPHA:79259 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Acromicria, Small hand, Obesity, Short foot, Clinodactyly |
ORPHA:254525 |
Proteus Syndrome |
|
Decreased muscle mass, Neoplasm of the thymus, Abnormal finger morphology, Abnormal form of the v... |
ORPHA:744 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Fa... |
ORPHA:818 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Ovoid vertebral bodies, Metatarsus adductus, Hypoplastic labia majora... |
OMIM:244450 |
Precocious Puberty, Central, 2 |
|
Premature thelarche, Premature pubarche |
OMIM:615346 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Restlessness, Aggressive behavior, Astrocytosis, Inappropriate behavior, Disinhibition, Neuronal ... |
OMIM:600795 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Congestive heart failure, Irregular menstruation, Uterine leiomyoma, Pulmonary arterial hypertens... |
OMIM:616482 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerotic vertebral endplates, Polycythemia, Hypothyroidism, Sclerosis of... |
ORPHA:2905 |
Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Obesity, Micropenis, D... |
OMIM:619185 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Precocious puberty, Cryptorchidism, Gonadal dysgenesis, Hypogonadism |
ORPHA:3306 |
Ruvalcaba Syndrome |
|
Short palm, Inguinal hernia, Short metacarpal, Micromelia, Cryptorchidism, Kyphosis, Short metata... |
OMIM:180870 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Bilobate gallbladder, Limited elbow movement, Short neck, Proximal plac... |
OMIM:261540 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Hypoplasia of the vagina, Abnormal sacrum morphology, Abnormal form of the vert... |
ORPHA:3109 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Angina pectoris, Visceral angiomatosis, Lymphoma, Telangiectasia,... |
ORPHA:109 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Decreased HDL cholesterol concentration, Primary testicular failu... |
ORPHA:85450 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Hypoplasia of the uterus, Chordee, Micro... |
OMIM:309801 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture |
OMIM:608540 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Chromosome 17Q12 Deletion Syndrome |
|
Short palm, Long toe, Multicystic kidney dysplasia, Cryptorchidism, Long fingers, Upper limb unde... |
OMIM:614527 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Cryptorchidism, ... |
ORPHA:3380 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Shortening of a... |
ORPHA:79320 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... |
ORPHA:144 |
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 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cutaneous finger syndacty... |
OMIM:101200 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Cryptorchidism, Premature pubarche |
ORPHA:457205 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Lipoatrophy, Cryptorchidism, Kyphosis, Reduced bone mineral density, Hyperhidrosis, Vertebral seg... |
ORPHA:2617 |
Pseudovaginal Perineoscrotal Hypospadias |
|
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... |
OMIM:264600 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism |
OMIM:300886 |
Burkitt Lymphoma |
|
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Neoplasm ... |
ORPHA:543 |
46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Abnormality of the endocrine system, Cryptorchidism, Obesity... |
ORPHA:464288 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Small for gestational age, Cryptorchidism, Kyphosis, Congenital contracture, Joi... |
ORPHA:352490 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... |
ORPHA:280679 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hyp... |
OMIM:615381 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Brain neoplasm, Decreased response to growth hormone stimulation test, N... |
ORPHA:273 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality o... |
OMIM:300957 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Short ne... |
ORPHA:800 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism, Obesity, Kyphoscoliosis |
ORPHA:3077 |
Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger, Overlapping toe |
OMIM:229230 |
Ollier Disease |
|
Chondrosarcoma, Micromelia, Joint stiffness, Precocious puberty, Visceral angiomatosis, Osteolysi... |
ORPHA:296 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Short neck, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal... |
ORPHA:495875 |
13Q12.3 Microdeletion Syndrome |
|
Kyphoscoliosis, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Hip dysplasia, Camptoda... |
ORPHA:412035 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... |
ORPHA:178148 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Osteoporo... |
ORPHA:48431 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepat... |
OMIM:188400 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Scholte Syndrome |
|
Micropenis, Decreased testicular size |
OMIM:300977 |
Genitopatellar Syndrome |
|
Small scrotum, Congenital hip dislocation, Knee flexion contracture, Micropenis, Pachygyria, Shor... |
OMIM:606170 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size |
OMIM:601815 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Premature ovarian insufficiency, Obesity, Scoliosis |
OMIM:618124 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Short toe, Obesity, Widely spaced toes, Proportionate tall statur... |
ORPHA:404443 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... |
ORPHA:201 |
Diastrophic Dysplasia |
|
Micromelia, Proximal placement of thumb, Abnormal form of the vertebral bodies, Symphalangism aff... |
ORPHA:628 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Obesity, Cholestasis, Polydactyly, Hypogonadism, Hepa... |
OMIM:616629 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Multiple renal cysts, Papilloma, Thyroid adenoma, Adenocarcinoma ... |
ORPHA:220460 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, C... |
OMIM:605309 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the fibula... |
ORPHA:2141 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphal... |
ORPHA:284339 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Tapered finger, Cryptorchidism, Generalized joint laxity, Increased body weight, 2-3 toe syndacty... |
ORPHA:589905 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Inguinal hernia, Abnormal intervertebral disk ... |
ORPHA:2311 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Clinodactyly of the 5th finger, Mi... |
OMIM:243800 |
Femoral-Facial Syndrome |
|
Inguinal hernia, Short femur, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Long... |
ORPHA:1988 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Cln3 Disease |
|
Cerebellar atrophy, Aggressive behavior, Depression, Increased circulating androgen concentration... |
ORPHA:228346 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Azoospermia, Infertility, Scoliosis, Thoracic h... |
ORPHA:1445 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... |
ORPHA:454840 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size |
OMIM:614838 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal cortical gyration, Cryptorchidism, Aplasia... |
OMIM:219000 |
Duplication Of Urethra |
|
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... |
ORPHA:237 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Kyphoscoliosis, Acute rhabdomyolys... |
OMIM:604168 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Hypergonadotropic hypogonadism, Elevated circulating c... |
OMIM:248800 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Absent th... |
OMIM:227645 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Prominent fingertip pads, Clin... |
OMIM:135900 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive, Scoliosis |
ORPHA:293181 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
11 pairs of ribs, Short palm, Broad hallux, Short neck, Precocious puberty, Cryptorchidism, Clino... |
OMIM:620073 |
Manitoba Oculotrichoanal Syndrome |
|
Vaginal atresia |
OMIM:248450 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept... |
ORPHA:1319 |
Hemochromatosis, Type 3 |
|
Purpura, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated tr... |
OMIM:604250 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:300997 |
Familial Pancreatic Carcinoma |
|
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Jaundice, Extrahepatic cholestasis, Weig... |
ORPHA:1333 |
Alstrom Syndrome |
|
Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Decrea... |
OMIM:203800 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Gapo Syndrome |
|
Dysmenorrhea, Abnormal form of the vertebral bodies, Oligozoospermia, Joint hyperflexibility, Abn... |
ORPHA:2067 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Morm Syndrome |
|
Truncal obesity, Micropenis |
ORPHA:75858 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Congenital Myopathy 9A |
|
Cryptorchidism, EMG: myopathic abnormalities, Obesity |
OMIM:618822 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational age, Anemic... |
OMIM:227650 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, External genital hypoplasia, Kyphoscoliosis, Cryptorchidism, Perisylvian polymic... |
OMIM:600118 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Adrenal hypoplasia, Cryptorchidism, Hypothyroid... |
ORPHA:95496 |
Roberts-Sc Phocomelia Syndrome |
|
Short neck, Tetraphocomelia, Knee flexion contracture, Phocomelia, Midface capillary hemangioma, ... |
OMIM:268300 |
Microsporidiosis |
|
Brain abscess, Myositis, Osteomyelitis, Cholangitis, Cachexia, Abnormality of the spleen, Abnorma... |
ORPHA:2552 |
Omodysplasia 2 |
|
Dyspareunia, Short humerus, Hypospadias, Cryptorchidism, Short 1st metacarpal, Uterus didelphys, ... |
OMIM:164745 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
Ectopic Aldosterone-Producing Tumor |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Adrenocortical adenoma, ... |
ORPHA:231632 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Neonatal epiphyseal stippling, Elevated circulating thyroid-stimulating hormone concentration, Sh... |
OMIM:101800 |
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty, Scoliosis |
ORPHA:457260 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda... |
OMIM:140000 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Toe syndactyly, Hypoplasia of the radius, Bicornuate uterus, Labial hypoplasia, Clinodactyly of t... |
ORPHA:140952 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Type I diabetes mellitus, Anemia |
ORPHA:1192 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Absent th... |
OMIM:600901 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty, Scoliosis, Decreased body weight |
OMIM:300958 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Decreased testicular size |
ORPHA:93950 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Osteoporosis, Truncal obesity, Hypogonadism, Clinodactyly of the 5th f... |
ORPHA:73272 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism, Periventricular heterotopia |
OMIM:300624 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Abnormal vertebral morp... |
ORPHA:280195 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... |
OMIM:616113 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Cryptorchidism, Micropenis, Decreased testicular size, Shawl scrotum |
OMIM:615433 |
Inherited Creutzfeldt-Jakob Disease |
|
Depression, Central nervous system degeneration, Irritability, Astrocytosis, Senile plaques, Emot... |
ORPHA:282166 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Neoplasm of the nose, Enlarged polycystic ovaries, Biliary tract neopl... |
ORPHA:2869 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gest... |
ORPHA:77301 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Colorectal Cancer |
|
Renal cell carcinoma, Uterine leiomyosarcoma, Transitional cell carcinoma of the bladder |
OMIM:114500 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Prune Belly Syndrome |
|
Multicystic kidney dysplasia, Congenital hip dislocation, Cryptorchidism, Abnormal rib morphology... |
ORPHA:2970 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Micromelia, Precocious puberty, Coxa vara, Joint hyperflexibility, Truncal obesity, Narrow pelvis... |
ORPHA:2637 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Adrenocorticotropic hormone excess... |
ORPHA:100083 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Short neck, Metatarsus valgus, Cryptor... |
ORPHA:3082 |
Mirage Syndrome |
|
Adrenal hypoplasia, Leukopenia, Microphallus, Hyponatremia, Hypospadias, Myelodysplasia, Cryptorc... |
OMIM:617053 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Hemiverteb... |
ORPHA:672 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt... |
ORPHA:300373 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, D... |
ORPHA:3157 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Short neck, Cryptorchidism, Thrombocytopenia, Elevated circulating creatinine conce... |
OMIM:608104 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochr... |
ORPHA:653 |
Mckusick-Kaufman Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Cryptorchidism, Postaxial han... |
ORPHA:2473 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85279 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Bloom Syndrome |
|
Adipose tissue loss, Neoplasm, Neoplasm of the breast, Male infertility, Decreased proportion of ... |
ORPHA:125 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Cryptorchidism, Sc... |
OMIM:619797 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Short neck, Reduced bone mineral density, Hepatic fibrosis, Hepatic steatosis, Hashim... |
ORPHA:881 |
Basal Cell Nevus Syndrome 1 |
|
Rhabdomyoma, Hemivertebrae, Cardiac fibroma, Vertebral fusion, Odontogenic keratocysts of the jaw... |
OMIM:109400 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Coxa v... |
OMIM:602271 |
Trisomy 13 |
|
Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic gi... |
ORPHA:3378 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Abnormal circulating glutamine concentra... |
ORPHA:101028 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Cachexia, Joint stiffness, Abnormality of the thyroid gland, Kyphosis, B... |
ORPHA:2047 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Mitochondrial hypertrophy, Scoliosis, Failur... |
OMIM:619518 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Distal lower limb amyotrophy, Upper limb muscle weakness, Scoliosis, Decreased serum testosterone... |
OMIM:609195 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Ulnar deviation of the hand, Limb j... |
OMIM:612079 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Limitatio... |
ORPHA:157973 |
Whim Syndrome 1 |
|
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Verru... |
OMIM:193670 |
Lissencephaly, X-Linked, 2 |
|
Lissencephaly, Ambiguous genitalia, Micropenis, Pachygyria, Decreased testicular size |
OMIM:300215 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... |
OMIM:158320 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Uterus didelphys |
ORPHA:2491 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Cohen Syndrome |
|
Finger syndactyly, Failure to thrive in infancy, Arachnodactyly, Sandal gap, Tapered finger, Kyph... |
ORPHA:193 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Dystonia 28 |
|
Precocious puberty, Hypothyroidism |
ORPHA:589618 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Short n... |
OMIM:619542 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Joint laxity, Sideroblastic anemia, Pappenheimer bodies, Scapular winging, Hyperlordosis, Microcy... |
OMIM:600462 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH le... |
OMIM:219090 |
Laron Syndrome |
|
Hypoplasia of penis, Abnormality of the endocrine system, Osteoarthritis, Short toe, Hypohidrosis... |
ORPHA:633 |
Leopard Syndrome 1 |
|
Scapular winging, Hypospadias, Limited elbow movement, Short neck, Delayed menarche, Cryptorchidi... |
OMIM:151100 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Premature ovarian insufficiency, Depression, Lateral ventricle dilatation, Ne... |
OMIM:615889 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Cryptorchidism, Disproportionate tall stature, Abdominal obesity, T... |
OMIM:301039 |
Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... |
OMIM:137920 |
Becker Nevus Syndrome |
|
Hamartoma, Lipoatrophy, Supernumerary nipple, Micromelia, Kyphosis, Hypoplastic labia minora, Abn... |
ORPHA:64755 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... |
ORPHA:536516 |
Aredyld Syndrome |
|
Craniofacial hyperostosis, Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia... |
ORPHA:1133 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
19P13.3 Microduplication Syndrome |
|
Precocious puberty, Unilateral cryptorchidism, Kyphoscoliosis |
ORPHA:447980 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
OMIM:615084 |
Alström Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Elevated circulating t... |
ORPHA:64 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Kyphosis, Flexion contracture, Dilated third ventricle, Small hand, S... |
ORPHA:500055 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Flexion contracture, Genu valgum, Abdominal obesity, Hypoplasia of the ovary, Azote... |
OMIM:619321 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormal long bone morphology, Abnormality of the liver, Abnormality o... |
ORPHA:228123 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty |
OMIM:615866 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Myositis, Cachexia, Mediastinal lymphadenopathy, Splenomegaly, Arthri... |
ORPHA:3452 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly,... |
ORPHA:2072 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Crypto... |
ORPHA:3121 |
Fanconi Anemia |
|
Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of the liver, Ne... |
ORPHA:84 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Micropenis, Decreased testicular size, Decreased response to growth hormone stimulation test |
ORPHA:457240 |
Invasive Mole |
|
Menometrorrhagia |
ORPHA:99925 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Abnormal fingertip morphology, Hyperlipidemia, Osteolysis, Generalized lipodystrophy,... |
ORPHA:90154 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Small scrotum, Short neck, Kyphosis, Reduced bone mineral density, Genu valg... |
ORPHA:2983 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Polydactyly, Obesity |
OMIM:245800 |
Diabetic Embryopathy |
|
Cryptorchidism, Abnormal sacrum morphology, Abnormality of the pancreas, Aplasia/Hypoplasia of th... |
ORPHA:1926 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Bardet-Biedl Syndrome 3 |
|
Brachydactyly, External genital hypoplasia, Postaxial polydactyly, Obesity |
OMIM:600151 |
Orofaciodigital Syndrome I |
|
Syndactyly, Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cysts, Clinodactyly, Ovar... |
OMIM:311200 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Hypospadias, Congenital diaphragmatic hernia, Short neck, Proximal placemen... |
ORPHA:251071 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm |
OMIM:614350 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... |
ORPHA:276152 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Denys-Drash Syndrome |
|
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... |
OMIM:194080 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexi... |
OMIM:618440 |
Smith-Magenis Syndrome |
|
Toe syndactyly, Failure to thrive in infancy, Hypertriglyceridemia, Joint stiffness, Precocious p... |
ORPHA:819 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... |
OMIM:615926 |
Phakomatosis Pigmentokeratotica |
|
Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Renal transitional cell carcinoma, Hyperhid... |
ORPHA:2874 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Back pain, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic ... |
ORPHA:892 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Lig4 Syndrome |
|
Pancytopenia, Small for gestational age, Myelodysplasia, Cryptorchidism, Acute lymphoblastic leuk... |
OMIM:606593 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Ovarian neoplasm |
OMIM:614337 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Congenital diaphragmatic hernia, Cryptorchidism, Multilobulated spleen, Hypoplas... |
OMIM:601186 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Joint stiffness, Flexi... |
ORPHA:1979 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathy... |
ORPHA:231226 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Small for gestational age, Abnormality of thyroid physiology, Kyphoscoli... |
ORPHA:59 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Elevated circulating creatine kinase concentration, Primary amenorrhea, Multiple... |
OMIM:617675 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Failure to thrive ... |
ORPHA:356961 |
Camptobrachydactyly |
|
Syndactyly, Septate vagina, Short toe, Hand polydactyly, Congenital finger flexion contractures, ... |
OMIM:114150 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Hypoplastic labia majora, Cam... |
OMIM:609128 |
Sporadic Creutzfeldt-Jakob Disease |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis |
ORPHA:204 |
Lhermitte-Duclos Disease |
|
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm |
ORPHA:65285 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Cachexia, Anemia, Hamartomatous polyposis, Clubbing of fingers, Midclavicular ... |
ORPHA:79076 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Abnormal va... |
ORPHA:2123 |
Wagro Syndrome |
|
Multiple exostoses, Hypoplastic female external genitalia, Obesity, Nephroblastoma, Decreased tes... |
OMIM:612469 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Cryptorchidism, Male ... |
ORPHA:2075 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... |
ORPHA:1145 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Elevated circulating creatine kinase concentration, Redundant sk... |
ORPHA:904 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Kyphosis, Congenital bilateral hip dislocation, Talipes equinovarus, I... |
ORPHA:85288 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Maturity-onset diabetes of the young, Maternal diabetes,... |
ORPHA:324575 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Small scrotum, Hypospadias, Multicystic kidn... |
ORPHA:2052 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Abnormal bone structure, Anemia |
ORPHA:46532 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Proximal placement of thumb, Facial capillary hemangiom... |
OMIM:270400 |
Hereditary Bullous Dystrophy, Macular Type |
|
Decreased testicular size, Cryptorchidism, External genital hypoplasia |
ORPHA:1867 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Abnormal circulating lipid concentration, Cryptorchidism, Cli... |
OMIM:616541 |
Placental Site Trophoblastic Tumor |
|
Miscarriage, Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Short neck, Hyperlordosis, Missing ribs, Abnormal sacrum morphology, Abnormal rib morphology, Abn... |
ORPHA:1797 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Familial Infantile Bilateral Striatal Necrosis |
|
Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Dysphagia, Astrocytosis |
ORPHA:225154 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypothyroidism, Hypoparathyroidism, Hepat... |
ORPHA:231214 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Radio-Tartaglia Syndrome |
|
Tapered finger, Precocious puberty, Obesity, Gray matter heterotopia, Scoliosis, Hemangioma, Dry ... |
OMIM:619312 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Tetraamelia Syndrome 1 |
|
Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia |
OMIM:273395 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, E... |
ORPHA:352447 |
Potocki-Shaffer Syndrome |
|
Nephroblastoma, Delayed puberty, Micropenis, Decreased skull ossification, Hypothyroidism, Anemia... |
ORPHA:52022 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Distal amyotrophy, Hypogonadotropic hypogonadism |
OMIM:215470 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Syndactyly, Inguinal hernia, Hypospadias, Dysmenorrhea, Small for gestational age,... |
ORPHA:397590 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies... |
OMIM:242900 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, ... |
OMIM:617088 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Corneal scarring, Dry ski... |
OMIM:610965 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Small for gestational age, Hypergonadotropic hypogonadism, Anemic pallor, Absent th... |
OMIM:227646 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Decreased circ... |
ORPHA:276575 |
Alport Syndrome |
|
Diffuse leiomyomatosis, Clitoral hypertrophy |
ORPHA:63 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryp... |
OMIM:617796 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Hepatic steatosis, Osteoporosis, Increased susceptibility to fractures, In... |
ORPHA:189427 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:93672 |
Norrie Disease |
|
Diabetes mellitus, Cachexia, Cryptorchidism, Uterine rupture, Scoliosis, Delayed puberty, Erectil... |
ORPHA:649 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Scarring, Cryptorchidism, Kyphosis, Flexion contracture, Scoliosis, Male hypogonadi... |
ORPHA:90322 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Anemia |
OMIM:620135 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphosis, Splenomegaly,... |
ORPHA:354 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, B... |
OMIM:255800 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Long toe, Skeletal muscle atrophy, Lipodystrophy, Arachnodactyly, Kyphoscoliosis, Cry... |
ORPHA:75496 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Osteopenia, Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck... |
OMIM:616801 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Kyphosis, Cryptorchidism, Abnormal sho... |
ORPHA:2115 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsuline... |
ORPHA:276580 |
Alg9-Cdg |
|
Short neck, Narrow greater sciatic notch, Abnormal bone ossification, Hepatomegaly, Rhizomelia, H... |
ORPHA:79328 |
Kabuki Syndrome |
|
Hypoplasia of penis, Hypospadias, Congenital diaphragmatic hernia, Precocious puberty, Cryptorchi... |
ORPHA:2322 |
Optic Pathway Glioma |
|
Precocious puberty, Neurofibroma |
ORPHA:2086 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cryptorchidism, Hypo... |
OMIM:615849 |
Kleefstra Syndrome 1 |
|
Hypospadias, Cryptorchidism, Obesity, Micropenis, Macroglossia, Talipes equinovarus, Tracheobronc... |
OMIM:610253 |
Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Precocious puberty |
OMIM:300801 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Jaundi... |
OMIM:614231 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:617253 |
Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Precocious puberty in females |
OMIM:619931 |
Rahman Syndrome |
|
Redundant skin, Kyphoscoliosis, Cryptorchidism, Talipes equinovarus, Camptodactyly |
OMIM:617537 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... |
ORPHA:169189 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
Distal Triplication 15Q |
|
Abnormal external genitalia, Arachnodactyly, Craniosynostosis, Large for gestational age, Kyphosi... |
ORPHA:314588 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Cachexi... |
ORPHA:824 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Vertebral segmentation defect, Hypospadias, Rhizomeli... |
OMIM:611209 |
Smith-Kingsmore Syndrome |
|
Rhizomelia, Diastasis recti, Large for gestational age, Short proximal phalanx of finger, Cryptor... |
OMIM:616638 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Type A brachydactyly, Joint stiffness, Abnormal thumb morphology, Obesity, Abnormal metacarpal mo... |
ORPHA:1078 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Micropenis, Panhypopituitarism, Decreased testicular size |
OMIM:300953 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Supernumerary nipple, Ro... |
OMIM:619951 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Hypoplasia of penis, Femoral hernia, Failure to thrive, Cryptorchidism, Obesity,... |
ORPHA:96147 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Hashimoto thyroiditis, Hypoparathyroidis... |
ORPHA:199299 |
Muir-Torre Syndrome |
|
Endometrial carcinoma, Renal neoplasm, Laryngeal carcinoma, Salivary gland neoplasm, Hematologica... |
ORPHA:587 |
H Syndrome |
|
Hallux valgus, Histiocytosis, Diabetes mellitus, Lipodystrophy, Recurrent fractures, Hypertriglyc... |
ORPHA:168569 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Ileal adenocarcinoma, Adrenocorticotropic ho... |
ORPHA:100079 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Renal cyst, Polycystic ovaries, Pallor, Failure to thrive |
ORPHA:137675 |
Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Cervical C5/C6 ve... |
ORPHA:87 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Premature ovarian insufficiency |
ORPHA:2928 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Pallor... |
ORPHA:276608 |
Wilson Disease |
|
Back pain, Hepatomegaly, Acute hepatitis, Abnormality of the menstrual cycle, Thrombocytopenia, S... |
ORPHA:905 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Episodic hyperhidrosis, Decreased circulating free fatty... |
ORPHA:276556 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Diabetes mellitus, Skeletal muscle... |
ORPHA:191 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:616756 |
Schinzel-Giedion Syndrome |
|
Short neck, Renal cyst, Tibial bowing, Hepatoblastoma, Broad ribs, Micropenis, Myeloid leukemia, ... |
ORPHA:798 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial hand polydactyly... |
OMIM:619471 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Facial hypotonia, Cryptorchidism, Kyphosis, Scoliosis, Micropenis, Abnormality of m... |
ORPHA:364028 |
Micro Syndrome |
|
Hypoplasia of penis, Joint stiffness, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Clitora... |
ORPHA:2510 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Broad toe, Hypospadias, Tapered finger, Cryptorchidism, Short thumb, Hydrocele testis, Short foot... |
OMIM:619522 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic steatosis, Acute pancreatitis, Hemolytic anemia, Hepatomegaly, Portal hypertension, Osteo... |
OMIM:619487 |
3-Methylglutaconic Aciduria, Type V |
|
Cryptorchidism, Hypospadias, Decreased testicular size |
OMIM:610198 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for ges... |
OMIM:601820 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Cryptorchidi... |
ORPHA:251066 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... |
OMIM:277590 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility, Genu valgum |
ORPHA:436141 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Overgrowth, Unilateral cryptorchidism, Tall stature, Large for gestational age |
ORPHA:137634 |
Angelman Syndrome |
|
Delayed menarche, Precocious puberty in females, Obesity, Scoliosis |
ORPHA:72 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t... |
ORPHA:2616 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Absent external genitalia, Short neck, Missin... |
OMIM:271520 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Inguinal hernia, True hermaphroditism, Abnormal labia morphology, Ambiguous genita... |
ORPHA:325345 |
Woolly Hair Nevus |
|
Precocious puberty |
ORPHA:79414 |
Tonne-Kalscheuer Syndrome |
|
Cryptorchidism, Micropenis, Hypospadias, Decreased testicular size |
OMIM:300978 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Abnormal form of the vertebral bodies, Accessory spleen, Vertebral fusion,... |
OMIM:194190 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Decreased hip abduction, Lumbar hyperlordosis, Camptodactyly of finger, Th... |
OMIM:114300 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Micromelia, Short neck, Aplasia of ... |
ORPHA:2879 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia, Histiocytosis |
ORPHA:139436 |
Distal Deletion 12Q |
|
Short neck, Biliary atresia, Proportionate tall stature, Aplasia/Hypoplasia of the middle phalanx... |
ORPHA:96149 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Cryptorchidism, Limitation of joint mobil... |
ORPHA:261494 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia, Joint stiffness |
ORPHA:1216 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Small hand, Obesity, Short foot, Short 5th finger, Clinodactyly |
OMIM:300577 |
Christianson Syndrome |
|
Decreased muscle mass, Cachexia, Joint hyperflexibility, Arthrogryposis multiplex congenita, Addu... |
ORPHA:85278 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Endometrial carcinoma, Aggressive behavior, Breast carcinoma, Melanoma, Inappropriate laughter, E... |
ORPHA:457212 |
Vacterl/Vater Association |
|
Omphalocele, Bifid scrotum, Hypoplasia of penis, Abnormal intervertebral disk morphology, Hypospa... |
ORPHA:887 |
Thymoma |
|
Myositis, Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobi... |
ORPHA:99867 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Hemangioma, Short neck |
OMIM:301032 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Sacral dimple, Hypospadias, Craniosynostosis, Congenital diaphragmatic hernia, S... |
ORPHA:96121 |
Microphthalmia, Syndromic 2 |
|
Hypospadias, Broad hallux, Septate vagina, Sandal gap, Cryptorchidism, Hypothyroidism, Flexion co... |
OMIM:300166 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the... |
OMIM:619269 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Esophageal carcinoma, Obesity, Lymphadenopathy, Clinodactyly of the 5th toe |
ORPHA:99976 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Diabetes insipidus, Astrocytosis |
OMIM:611087 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Supernumerary nipple, Short hallux, Truncal obesi... |
ORPHA:3224 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Abnormality of the uterus |
OMIM:617805 |
Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Redundant skin, Epispadias, Abnormal finger morphology, Symphalangis... |
ORPHA:2658 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Small scrotum, Hypospadias, Small for gestational age, Rhizomelia, Short femur, Sa... |
OMIM:607143 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Precocious puberty, Preaxial polydactyly, Obesity, Abnormality of neuronal migration |
ORPHA:163681 |
Crouzon Syndrome |
|
Abnormality of the cervical spine, Dysgerminoma |
OMIM:123500 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Opitz Gbbb Syndrome |
|
Omphalocele, Bifid scrotum, Inguinal hernia, Enlarged ovaries, Hypospadias, Congenital diaphragma... |
ORPHA:2745 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Failure to thrive, Abnormality of the pancre... |
ORPHA:2315 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis... |
OMIM:615761 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hyperhidrosis, Neoplasm, Skin vesicle, Hepatomegaly, Osteoporosis, Sk... |
ORPHA:1775 |
Thrombocytopenia-Absent Radius Syndrome |
|
Facial capillary hemangioma, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5t... |
OMIM:274000 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Small for gestati... |
OMIM:616897 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Coxa valga, Advanced ossificatio... |
OMIM:618363 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Clinodactyly, Primary amenorrhea, Ectr... |
OMIM:147950 |
2P15P16.1 Microdeletion Syndrome |
|
Inguinal hernia, Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Supernumerary... |
ORPHA:261349 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Short neck, Postaxial polydactyly, Hamartoma of tongue, Preax... |
OMIM:617925 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Bilateral cryptorchidism, Hyperhidrosis, Rib exostoses, Clinodactyly of the 5th finge... |
OMIM:150230 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive, Abnormal thalamic MRI signal intensity, Scoliosis |
ORPHA:363717 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Irregular menstruation, Obesity |
OMIM:615986 |
Donnai-Barrow Syndrome |
|
Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... |
ORPHA:90674 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Restlessness, Brain neoplasm, Temporal cortical atrophy, ... |
ORPHA:100070 |
Noonan Syndrome 8 |
|
Large for gestational age, Short neck, Cryptorchidism, Palmoplantar cutis laxa, Left ventricular ... |
OMIM:615355 |
Esophageal Atresia |
|
Omphalocele, Barrett esophagus, Abnormal external genitalia, Small for gestational age, Maternal ... |
ORPHA:1199 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Broad hallux, Short neck, Increased body weight, 2-3 toe syndactyly, Short foot, Micropenis, Dry ... |
OMIM:300860 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Finger joint hypermobility, Mi... |
OMIM:244200 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Adrenoleukodystrophy |
|
Primary adrenal insufficiency, Impotence, Hypogonadism, Neurodegeneration, Attention deficit hype... |
OMIM:300100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Hyperlordosis, Precocious puberty, Tapered finger, Hip dislocation,... |
OMIM:301066 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Hashimoto thyroiditis, Elevated circulating C-reactive protein ... |
ORPHA:49041 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Hydrocele testis, Radioulnar synostosis, Short middle phalanx of the 4th finger... |
OMIM:616738 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Arachnodactyly, Cachexia, Short neck, Elbow flexion contracture, Small hand, Kne... |
ORPHA:371364 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Marden-Walker Syndrome |
|
Inguinal hernia, Decreased muscle mass, Hypospadias, Arachnodactyly, Short neck, Cryptorchidism, ... |
OMIM:248700 |
Myhre Syndrome |
|
Abnormal penis morphology, Craniofacial hyperostosis, Inguinal hernia, Brachydactyly, Femoral her... |
ORPHA:2588 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Inguinal hernia, Pancytopenia, Hypospadias, Petechiae, Cryptorchidism, Hemivertebrae,... |
OMIM:620331 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ... |
OMIM:616415 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Abnormal dental enamel morphol... |
ORPHA:2916 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
Warburg Micro Syndrome 4 |
|
Small scrotum, Cryptorchidism, Perisylvian polymicrogyria, Micropenis, Decreased testicular size |
OMIM:615663 |
Bachmann-Bupp Syndrome |
|
Focal polymicrogyria, Large for gestational age, Cryptorchidism, Hyperbilirubinemia, Clinodactyly... |
OMIM:619075 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Obesity, Scoliosis |
ORPHA:276630 |
Gray Platelet Syndrome |
|
Myelodysplasia, Abnormality of the menstrual cycle |
ORPHA:721 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele, Anemia |
ORPHA:71273 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Small for gestational age, Pr... |
ORPHA:96182 |
Degcags Syndrome |
|
Osteopenia, Leukopenia, Iron deficiency anemia, Pallor, Diaphragmatic eventration, Syndactyly, He... |
OMIM:619488 |
Diamond-Blackfan Anemia |
|
Pure red cell aplasia, Short neck, Reticulocytopenia, Leukopenia, Pallor, Triphalangeal thumb, Ne... |
ORPHA:124 |
Emanuel Syndrome |
|
Inguinal hernia, Sacral dimple, Congenital hip dislocation, Torticollis, Congenital diaphragmatic... |
OMIM:609029 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Bainbridge-Ropers Syndrome |
|
Death in infancy, Supernumerary nipple, Precocious puberty, Cryptorchidism, Disproportionate tall... |
OMIM:615485 |
Down Syndrome |
|
Joint laxity, Sandal gap, Short neck, Abnormality of the lymphatic system, Decreased fertility, O... |
ORPHA:870 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Lymphadenopathy, Weight loss |
ORPHA:52416 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Fai... |
OMIM:613561 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Ecchymosis, Leu... |
ORPHA:96253 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cryptorchidism, Gliosis, Neurodegeneration, Brain a... |
OMIM:214150 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Postaxial hand polydactyly, Obesity, Short finger, Broad thumb |
OMIM:300209 |
Majeed Syndrome |
|
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Cachexia, Congenital hypoplastic ane... |
ORPHA:77297 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, External genital hypoplasia, Decrea... |
ORPHA:177907 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol... |
OMIM:276820 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Sandal gap, Hypospadias, Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Widened atrophic scar, Redundant skin, Equinus calcaneus, Shoulde... |
ORPHA:536532 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Cachexia, Joint stiffness |
ORPHA:1144 |
Chops Syndrome |
|
Cryptorchidism, Splenomegaly, Obesity, Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydac... |
OMIM:616368 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Axial Mesodermal Dysplasia Spectrum |
|
Omphalocele, Congenital diaphragmatic hernia, Short neck, Missing ribs, Abnormality of the spleen... |
ORPHA:1834 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Chromosome 18P Deletion Syndrome |
|
Gonadal dysgenesis, Cryptorchidism, Micropenis, Decreased testicular size |
OMIM:146390 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Inguinal hernia, Small scrotum, Arachnodactyly, Camptodactyly of finger, Skele... |
ORPHA:2215 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Insulin-resistant diabetes mellitus, Primary ameno... |
ORPHA:293967 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Pallor |
ORPHA:79283 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Kyphoscoliosis, Precocious puberty, Basal cell carcinoma, Overgrowth, Hemangioma |
OMIM:163200 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menometro... |
ORPHA:849 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Bilateral coxa valga, Obesity |
OMIM:620270 |
8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Precocious puberty, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Scoliosis,... |
ORPHA:96092 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Arachnodactyly, Distal amyotrophy, Hypogonadism, Infertility, Oligomenorrhea, Type II diabetes me... |
ORPHA:412057 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
22Q11.2 Deletion Syndrome |
|
Short neck, Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemia, Hypothyroidism, Hy... |
ORPHA:567 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Failure to thrive, Overgrowth, Large for gestational age |
ORPHA:261652 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Premature ovarian insufficiency, Secondary amenorrhea, Goiter |
OMIM:617175 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Short neck, Absent thumb, Short thumb, Sho... |
OMIM:609053 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Lumbar scoliosis, Obesity, Primary amenorrhea |
ORPHA:319675 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... |
OMIM:612526 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... |
OMIM:251450 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Obesity, ... |
OMIM:618653 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... |
OMIM:264300 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic h... |
OMIM:212065 |
Acromegaly |
|
Dysmenorrhea, Osteoarthritis, Wide penis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogo... |
ORPHA:963 |
Chand Syndrome |
|
Short fifth metatarsal, Imperforate hymen, Dry skin, Hypohidrosis |
ORPHA:1401 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Joint laxity, Crumpled long bones, Isosexual precocious puberty, Metaphyseal widening... |
ORPHA:2788 |
Somatomammotropinoma |
|
Dysmenorrhea, Osteoarthritis, Hyperhidrosis, Pituitary prolactin cell adenoma, Hypogonadotropic h... |
ORPHA:314769 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Bresek Syndrome |
|
Cryptorchidism, Decreased testicular size |
ORPHA:85284 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Noonan Syndrome 5 |
|
Cryptorchidism, Dry skin, Large for gestational age, Short neck |
OMIM:611553 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Limb muscle weakness, Pallor |
ORPHA:90064 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Tapered finger, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia |
ORPHA:2930 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Broad hallux, Sandal gap, Hyperlordosis, Cryptorchidism, Obesity, Hip dyspl... |
OMIM:616078 |
Trisomy 20P |
|
Finger syndactyly, Inguinal hernia, Hypospadias, Camptodactyly of finger, Short neck, Cryptorchid... |
ORPHA:261318 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, Clinodactyly of... |
ORPHA:251014 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spl... |
ORPHA:2470 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Facial hypotonia, Postaxial polydactyly, Hip dysplasia, Aplasia of... |
ORPHA:457284 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Hypospadias, Cryptorchidism, Kyph... |
OMIM:619718 |
Oeis Complex |
|
Omphalocele, Absence of the sacrum, 11 pairs of ribs, Congenital hip dislocation, Bifid uterus, E... |
OMIM:258040 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia |
OMIM:211900 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Hypospadias, Arachnodactyly, Congenital diaphragmatic hernia, Sandal gap, Cryptorchidism, Kyphosi... |
OMIM:617602 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proporti... |
ORPHA:3261 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short neck, Osteoporosis, Obesity, Pseudohypoparathyroidism, Short metatarsal, ... |
OMIM:612463 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypospadias, Abnormal dental enamel morphology, Arachnodactyly, Cryptorchidism,... |
ORPHA:96169 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Cachexia, Bone-marrow foam cells, Splenomegaly, Adrenal insu... |
ORPHA:75233 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Inguinal hernia, Redundant neck skin, Short neck, Thyroid lymphangiectasia, Cryptor... |
OMIM:235255 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Osteopenia, Epiphyseal dysplasia, Hyponatremia, Congenital hip dislocation, Calcinosis, Splenomeg... |
OMIM:617913 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Hypoh... |
ORPHA:98813 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Retroperitoneal fib... |
ORPHA:35687 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Cryptorchidism, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, ... |
ORPHA:404440 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachex... |
ORPHA:42 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Pallor |
ORPHA:2786 |
Beckwith-Wiedemann Syndrome |
|
Redundant skin, Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Leiomyo... |
ORPHA:116 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis, Clinodactyly, ... |
OMIM:301040 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl... |
OMIM:614172 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Polymicrogyria, Hypospadias |
OMIM:618874 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Cryptorchidism, Azoospermia, Hypogonadism, Infertility, Type ... |
ORPHA:96264 |
Sotos Syndrome |
|
Joint laxity, Cryptorchidism, Long metacarpals, Increased body weight, Genu valgum, Long phalanx ... |
OMIM:117550 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Bilateral cryptorchidism, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, ... |
ORPHA:3042 |
Illum Syndrome |
|
Calcinosis, Arthrogryposis multiplex congenita |
OMIM:208155 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Abse... |
ORPHA:93111 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Spinal neurofibroma, Precocious puberty, Cryptorchidism, Kyphosis, Abnormality of th... |
ORPHA:636 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Absent thumb, Cryptorchidis... |
OMIM:603467 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Congenital hip dislocation, Increased T3/T4 ratio, Increa... |
OMIM:614450 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Kyphosis, Simplified gyral pattern, Dry skin, Dilated third ventricle |
OMIM:619244 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hypoplastic sacrum, Absence of Stensen duct, Hypogonadotropic hypogonadism, Decreased response to... |
OMIM:604292 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micromelia, Proximal placement ... |
ORPHA:199 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Cryptorchidism, Short toe, Gene... |
OMIM:139210 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebr... |
ORPHA:2522 |
Fixed Drug Eruption |
|
Vaginal mucosal ulceration |
ORPHA:293812 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous melanoma, Mitten deformi... |
ORPHA:79409 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Inguinal hernia, Toe syndactyly, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decrease... |
OMIM:129900 |
Meacham Syndrome |
|
Accessory spleen, Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism,... |
OMIM:608978 |
Cockayne Syndrome A |
|
Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope... |
OMIM:216400 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Diastasis recti, Large for gestational age, Cryptorchidism, Hemangioma, Polymicrogyria |
ORPHA:457485 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:610951 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Hyperh... |
ORPHA:1304 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Skin ... |
ORPHA:507 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck, Postaxial hand polydacty... |
OMIM:619879 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Macroorchidism |
ORPHA:324410 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Abnormal vagina morphology |
ORPHA:1334 |
Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Supernumerary nipple, Polymicrogyria, Talipes equinovarus, Pachygyria, Imperforat... |
OMIM:100300 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, 2-3 toe syndactyly, Facial diplegia, Bilat... |
OMIM:618186 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Primary Hyperoxaluria Type 1 |
|
Calcinosis, Hyperoxaluria, Abnormality of circulating enzyme level, Failure to thrive, Anemia |
ORPHA:93598 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive... |
OMIM:256040 |
Peters Plus Syndrome |
|
Inguinal hernia, Sacral dimple, Hypospadias, Multicystic kidney dysplasia, Micromelia, Short neck... |
ORPHA:709 |
Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Pectoralis major hypoplasia, Triphalangeal thumb, H... |
OMIM:147750 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Precocious puberty, Ependymoma, Gingival fibromatosis, Renal cyst, Cardiac... |
OMIM:191100 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Neopla... |
ORPHA:235 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal odontoid process morphology, Abnormal limb epiphysis morphology, Kyph... |
ORPHA:2976 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Vipoma |
|
Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas... |
ORPHA:97282 |
Warburg Micro Syndrome 3 |
|
Small scrotum, Hypoplastic labia minora, Micropenis, Polymicrogyria, Decreased testicular size |
OMIM:614222 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu... |
ORPHA:263455 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Hematochezi... |
ORPHA:157794 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Beaulieu-Boycott-Innes Syndrome |
|
Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Lymphopenia, Intermittent thrombocytopenia, Perianal abscess, Cryp... |
OMIM:612541 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Metaphyseal widening, Hypophosphatemic rickets, Male hypogonadism, Male ... |
OMIM:219800 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Osteopenia, Portal hypertension, Myelodysplasia, Cryptorchidism, Thrombocytopenia, Squamous cell ... |
OMIM:620365 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... |
OMIM:619975 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Purpura, Epistaxis, Decreased platelet glyc... |
OMIM:273800 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Cachexia, Tapered finger, Short neck, Hypocalcemia |
ORPHA:1438 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Cryptorchidism, Kyphosis, Dry skin, Hyperhidrosis, Clinodactyly, Ly... |
OMIM:619745 |
Limb-Mammary Syndrome |
|
Syndactyly, Absent nipple, Toe syndactyly, 3-4 finger cutaneous syndactyly, Primary amenorrhea, H... |
ORPHA:69085 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Small hand, Obesity, Short foot, Clinodactyly of the 5th finger, Hemangioma, Brachydactyly |
ORPHA:444002 |
9P13 Microdeletion Syndrome |
|
External genital hypoplasia, Joint stiffness, Precocious puberty, Scoliosis, Clinodactyly of the ... |
ORPHA:324313 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Craniosynostosis, Precocious... |
ORPHA:369837 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Kyphosis, Increased femoral ant... |
OMIM:619005 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Isolated Congenital Hypoglossia/Aglossia |
|
Hamartoma, Aplasia/Hypoplasia of fingers, Weight loss |
ORPHA:141152 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Hypoalbuminemia, Hypocalcemia... |
ORPHA:37042 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin long bone diaphyses, Decreased skull oss... |
ORPHA:93325 |
Scleroderma, Familial Progressive |
|
Calcinosis, Abnormal abdomen morphology |
OMIM:181750 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula |
OMIM:619318 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Foot joint contracture, Scarring, Cryptorchidism, Hypohidrosis, Scoliosis, Increase... |
ORPHA:90321 |
Insulin Autoimmune Syndrome |
|
Weight loss, Insulin-resistant diabetes mellitus, Arthralgia/arthritis, Hyperinsulinemic hypoglyc... |
ORPHA:411593 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Cryptorchidism, Hypotrophy ... |
OMIM:610443 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Precocious puberty, Retinal hamartoma, Ependymoma, Gingival... |
OMIM:613254 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Lymphoma, Osteoporosis, Rickets, Thyroiditis, Weight loss, Iron deficiency ane... |
OMIM:212750 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Cryptorchidism, Kyphosis, Abdominal situs inversus, Camptodactyly, Clinodactyly of the ... |
OMIM:619123 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Small for gestational age, Athetosis, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Teebi Hypertelorism Syndrome 1 |
|
Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Hypothyroidism, 2-4 finger syndactyly, Mult... |
OMIM:107480 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Bicornuate uterus, Polycystic kidney dysplasia |
OMIM:263210 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Hepatomegaly, Redundant neck skin, Rhizomelia, Micromelia, Short neck, Abn... |
ORPHA:1842 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, C... |
OMIM:210900 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus, Bruising susceptibility |
OMIM:606408 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Abnormality of the endocrine system, Short metatarsal, Ob... |
ORPHA:79445 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lym... |
ORPHA:97289 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Alexander Disease |
|
Diabetes mellitus, Hyperlordosis, Precocious puberty, Short neck, Kyphosis, Hyperhidrosis, Scolio... |
ORPHA:58 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Limitation of joint mobility, Osteolysis, Slender long bone, M... |
ORPHA:2774 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Toxic Epidermal Necrolysis |
|
Thrombocytopenia, Erythema, Skin ulcer, Weight loss, Neutropenia, Abnormal vagina morphology, Pan... |
ORPHA:537 |
Microphthalmia, Lenz Type |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Hyperlordosis, Cryptorchidism, Kyphosis,... |
ORPHA:568 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Neonatal insulin-dependent diabetes mellitus, Precocious puberty, Cryptorchidism, Labial hypertro... |
ORPHA:96191 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma |
OMIM:612591 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Pancreatic steatosis, Reduced bone mineral density, ... |
OMIM:617052 |
Developmental And Epileptic Encephalopathy 68 |
|
Failure to thrive, Exaggerated startle response, Flexion contracture |
OMIM:618201 |
Pagod Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Abnormality of the sp... |
ORPHA:991 |
Fryns Syndrome |
|
Bifid scrotum, Ectopic pancreatic tissue, Proximal placement of thumb, Short neck, Large for gest... |
OMIM:229850 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Ambiguous genitalia, Bowing of the long bon... |
ORPHA:140 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Puberty and gonadal disorders, Kyphosis, Hip d... |
ORPHA:464282 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Noonan Syndrome 4 |
|
Large for gestational age, Short neck, Cryptorchidism, Scoliosis, Thrombocytopenia |
OMIM:610733 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Short 4th toe, Clinodactyly o... |
OMIM:615873 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee flexion contracture, ... |
OMIM:614976 |
Ellis Van Creveld Syndrome |
|
Failure to thrive, Hypospadias, Micromelia, Cryptorchidism, Capitate-hamate fusion, Epispadias, G... |
ORPHA:289 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Syndactyly, Sacral dimple, Short neck, Cryptorchidism, Kyphosis, Clinodactyly, Mesom... |
OMIM:616894 |
Attrv30M Amyloidosis |
|
Impotence, Cardiomegaly, Weight loss |
ORPHA:85447 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, Unilateral hypoplasia of pectoralis major muscle, Supernumerary nipple, Craniosynosto... |
ORPHA:1521 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Geni... |
OMIM:602450 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Delayed puberty, Micropenis, Decreased t... |
ORPHA:2326 |
Lynch Syndrome 8 |
|
Endometrial carcinoma |
OMIM:613244 |
Currarino Syndrome |
|
Absence of the sacrum, Hemisacrum, Septate vagina, Perianal abscess, Presacral teratoma, Bifid sa... |
OMIM:176450 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Inguinal hernia, Short neck, Hyperlordosis, Cryptorchidism, Kyphosis, ... |
ORPHA:2789 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Vertebral hypoplasia, Short metacarpal, Radial bowin... |
OMIM:108720 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, External genital hypoplasia, Cryptorchidism, Renal cyst, Neonatal ... |
OMIM:613390 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Nelson Syndrome |
|
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... |
ORPHA:199244 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Generalized joint laxity, Flexion contracture, Metaphyse... |
ORPHA:536471 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Abnormal circulating calcium concentration, Decreased fertility, Weight loss, Gonad... |
ORPHA:60025 |
Tumoral Calcinosis, Normophosphatemic, Familial |
|
Calcinosis |
OMIM:610455 |
Tetrasomy 12P |
|
Joint hyperflexibility, Hypohidrosis, Cachexia, Short neck |
ORPHA:884 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Microtriplication 11Q24.1 |
|
Short neck, Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Obesit... |
ORPHA:289522 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Prominent protruding coccyx, Obesity, Abnormal sacral segmentation, Lipoma, Joint hypermobility |
ORPHA:480907 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Hyponatremia, Osteomalacia, Abnormal dental enamel morphology... |
ORPHA:534 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Small for gestational age, Kyphosis, Reduced bone mineral density, Delayed ossif... |
OMIM:618392 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Biliary tract abnormality, Obesity, Type II diabetes melli... |
ORPHA:3191 |
3C Syndrome |
|
Finger syndactyly, Inguinal hernia, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Short n... |
ORPHA:7 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Periventricular heterotopia, Cryptorchidism, Kyphosis, Hip dysplasia... |
ORPHA:261250 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Hypospadias, Small for gestational age, Ankle flexion contracture, Tapered fin... |
ORPHA:464311 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Cryptorchidism, Bicornuate uterus, Micropenis, Agenesis of corpus callosum |
OMIM:264480 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Short neck, Cryptorchidism, Kyphosis, S... |
OMIM:130720 |
Rafiq Syndrome |
|
Joint laxity, Short neck, Flexion contracture, Obesity, Cutis laxa, Truncal obesity, Clinodactyly... |
OMIM:614202 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Acute hepatic failure, Elevated hepatic transaminase, Jaundice, Cerebral cort... |
OMIM:203700 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Miscarriage, Oligomenorrhea |
OMIM:613877 |
Vici Syndrome |
|
Lymphopenia, Elevated circulating creatine kinase concentration, Decreased proportion of CD4-posi... |
OMIM:242840 |
Diaminopentanuria |
|
Neurodegeneration |
OMIM:222350 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Left-to-right shunt, Endometriosis, Dysplastic corp... |
ORPHA:363444 |
Tetrasomy 9P |
|
Myositis, Short neck, Biliary atresia, Clinodactyly of the 5th finger, Micropenis, Pachygyria, Am... |
ORPHA:3310 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Syndactyly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenom... |
OMIM:615631 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Head titubation, Upper-limb joint contracture, Lower-limb join... |
ORPHA:300605 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Short neck, Decreased cervical spi... |
ORPHA:98863 |
Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Ver... |
ORPHA:373 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Hypospadias, Recurrent fractures, Kyphoscoliosis, Arachnodactyly... |
ORPHA:3063 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Tapered finger, Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... |
ORPHA:3226 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Diabetes mellitus, Lumbar hyperlordosis, Lipodystrophy, Elevated circula... |
OMIM:615980 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Multiple joint contractures, Hypospadias, Anterior pituitary hypoplasia, Small for... |
ORPHA:464306 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H... |
ORPHA:1507 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Decreased response to growth... |
OMIM:216550 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Elevated circulat... |
OMIM:600175 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon |
ORPHA:447877 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Bilateral cryptorchidism, Flexion contracture, Papillary cystadenoma of the ... |
OMIM:180849 |
Kaposiform Lymphangiomatosis |
|
Abnormal femur morphology, Abnormal form of the vertebral bodies, Papilloma, Ecchymosis, Abnormal... |
ORPHA:464329 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Redundant neck skin, External genital hypoplasia, Short neck, Large for gestational age, Flexion ... |
ORPHA:96334 |
Pseudohypoparathyroidism, Type Ib |
|
Short metacarpal, Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone lev... |
OMIM:603233 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Inguinal hernia, Tapered toe, Large for gestational age, Bilateral cryptorchidism,... |
ORPHA:544488 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Scoliosis |
OMIM:614409 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... |
OMIM:300942 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Distal joint laxity, Kyphos... |
OMIM:616471 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Petechiae, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopat... |
ORPHA:520 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
Ppoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Subcutaneous lipoma, Elevated circulating ... |
ORPHA:97278 |
Floating-Harbor Syndrome |
|
Short neck, Renal cyst, Humeral pseudarthrosis, Dislocated radial head, Short metacarpal, Hypospa... |
ORPHA:2044 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Grfoma |
|
Anorexia, Neoplasm of the thymus, Pheochromocytoma, Intermittent jaundice, Increased circulating ... |
ORPHA:97261 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Kyphosis, Scoliosis |
ORPHA:2429 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Hepatomegaly, Abnormal external genitalia, Short neck, Splenomegaly, Gingival fibr... |
ORPHA:3473 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98853 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Obesity, Genu valgum, Short palm, C... |
ORPHA:3210 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Clubbing, Xerostomia, Hamartomatous polyposis, Clubbing of fingers, Hypokalemia, Hypoca... |
OMIM:175500 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Episodic hyperhidrosis, Weight loss, Pallor, Parag... |
ORPHA:94080 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Hernia, Decreased skull ossification, Partial absence of toe, Hepatomegal... |
ORPHA:955 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH co... |
OMIM:219080 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Clinodactyly of the 5t... |
OMIM:136140 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of the lung, Neoplasm of the... |
ORPHA:217253 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... |
OMIM:275000 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Huntington Disease |
|
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Abnormal ... |
ORPHA:399 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Weight loss, Neoplasm, Menorrhagia |
ORPHA:168816 |
Meckel Syndrome, Type 1 |
|
External genital hypoplasia, Adrenal hypoplasia, Short neck, Asplenia, Ambiguous genitalia, femal... |
OMIM:249000 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Hypospadias, Kyphoscoliosis, Short neck, Tapered finger, Cryptorchidism, Clinodact... |
OMIM:309580 |
Acute Adrenal Insufficiency |
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Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Decreased female libido, H... |
ORPHA:95409 |
Summitt Syndrome |
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Syndactyly, Obesity, Craniosynostosis |
OMIM:272350 |
Cone-Rod Dystrophy 11 |
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Pallor |
OMIM:610381 |
Fanconi Anemia, Complementation Group L |
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Hypoplastic sacrum, Absent thumb, Short neck, Absent radius, Bilateral talipes equinovarus, Bone ... |
OMIM:614083 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... |
ORPHA:98849 |
Primary Ciliary Dyskinesia |
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Male infertility, Female infertility, Asplenia, Clubbing, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Dystonia 31 |
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Abnormal posturing |
OMIM:619565 |
Glucagonoma |
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Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intermittent jaundice, Increased cir... |
ORPHA:97280 |
Koolen-De Vries Syndrome Due To A Point Mutation |
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Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo... |
ORPHA:363958 |
Somatostatinoma |
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Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Hypoplasia of penis, Ambiguous genitalia, Abnormal hemoglobin, Joint stiffness, Cryptorchidism, M... |
ORPHA:847 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
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Truncal obesity |
OMIM:300471 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
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Hyponatremia, Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level,... |
ORPHA:293978 |
6Q Terminal Deletion Syndrome |
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Joint laxity, Aplasia/Hypoplasia of the ribs, Hallux valgus, Hypospadias, Short neck, Phimosis, P... |
ORPHA:75857 |
Obesity And Hypopigmentation |
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Hepatic steatosis, Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
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Elevated hepatic transaminase, Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Hy... |
OMIM:616878 |
Pmm2-Cdg |
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Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Fryns Syndrome |
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Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Agenesis of corpus ... |
ORPHA:2059 |
Ehlers-Danlos Syndrome, Vascular Type |
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Inguinal hernia, Cryptorchidism, Cigarette-paper scars, Cystocele, Foot acroosteolysis, Osteolyti... |
OMIM:130050 |
Neurodegeneration With Brain Iron Accumulation 6 |
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Motor tics, Neurodegeneration, Compulsive behaviors, Depression |
OMIM:615643 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Reticulocytosis, Rickets, Hepatosplenomegaly, Decreased mean corpuscular volume... |
OMIM:611590 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
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Hip contracture, Scapular winging, Elevated circulating creatine kinase concentration, Spinal mus... |
OMIM:615290 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
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Short femur, Cryptorchidism, Genu valgum, Overgrowth, Micropenis, Joint hypermobility |
OMIM:617798 |
Sandhoff Disease |
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Splenomegaly, Kyphosis, Failure to thrive, Hepatomegaly |
ORPHA:796 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Craniosynostosis, Cardiomegaly, Obesity, Congenital hypothyroidism, Hypoalbuminemia |
ORPHA:88643 |
Hidrotic Ectodermal Dysplasia, Halal Type |
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Irregular menstruation, Supernumerary nipple |
ORPHA:1809 |
Cockayne Syndrome B |
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Reduced subcutaneous adipose tissue, Anhidrosis, Hepatomegaly, Small for gestational age, Cryptor... |
OMIM:133540 |
Marshall-Smith Syndrome |
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Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... |
OMIM:602535 |
Primrose Syndrome |
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Skeletal muscle atrophy, Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture,... |
OMIM:259050 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Lower limb amyotrophy, Foot dors... |
OMIM:617087 |
Reticular Dysgenesis |
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Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypop... |
ORPHA:33355 |
Witteveen-Kolk Syndrome |
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Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Proximal ... |
OMIM:613406 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
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Macroorchidism |
OMIM:309520 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Decreased response to growth hormone stimulation test, Premature thelarche, Micropenis, Hypothyro... |
ORPHA:268261 |
Baralle-Macken Syndrome |
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Kyphosis, Obesity, Striae distensae, Tapered finger |
OMIM:619255 |
Pycnodysostosis |
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Decreased response to growth hormone stimulation test, Generalized osteosclerosis, Hypoplastic il... |
ORPHA:763 |
Mu-Heavy Chain Disease |
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Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... |
ORPHA:100024 |
Pelizaeus-Merzbacher Disease |
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Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:702 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Ciliary Dyskinesia, Primary, 22 |
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Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
Cardiac-Urogenital Syndrome |
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Bifid scrotum, Accessory spleen, Ambiguous genitalia, Unilateral cryptorchidism, Congenital diaph... |
OMIM:618280 |
Neu-Laxova Syndrome 1 |
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Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Bifid uterus, Short neck, Cryp... |
OMIM:256520 |
Adnp Syndrome |
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Joint laxity, Inguinal hernia, Broad hallux, Sandal gap, Abnormal toe morphology, Cryptorchidism,... |
ORPHA:404448 |
Hajdu-Cheney Syndrome |
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Osteopenia, Short neck, Renal cyst, Dislocated radial head, Joint laxity, Hypospadias, Cryptorchi... |
OMIM:102500 |
Renal Hypoplasia, Bilateral |
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Hyponatremia, Small for gestational age, Cryptorchidism, Hyperkalemia, Renal cyst, Failure to thr... |
ORPHA:97362 |
Exstrophy-Epispadias Complex |
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Omphalocele, Bifid scrotum, Inguinal hernia, Bifid uterus, Epispadias, Cryptorchidism, Cystocele,... |
ORPHA:322 |
Mend Syndrome |
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Sacral dimple, Broad hallux, Overlapping toe, Cryptorchidism, Kyphosis, Long fingers, Elevated 8(... |
ORPHA:401973 |
Coenzyme Q10 Deficiency, Primary, 1 |
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Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatine kinase concentration,... |
OMIM:607426 |
Waardenburg Syndrome, Type 1 |
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Aplasia of the vagina, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
Perlman Syndrome |
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Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Hypo... |
OMIM:267000 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
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Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Immunodeficiency 105 |
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Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B-cell lymphoma, Absenc... |
OMIM:619924 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
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Neonatal death, Kyphosis, Failure to thrive |
OMIM:618237 |
Trichothiodystrophy |
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Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Crypto... |
ORPHA:33364 |
Laryngotracheoesophageal Cleft Type 4 |
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Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Abnormal rib morphology, Abno... |
ORPHA:93941 |
2Q37 Microdeletion Syndrome |
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Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Supernumerary ... |
ORPHA:1001 |
Idiopathic Bronchiectasis |
|
Clubbing, Cachexia |
ORPHA:60033 |
Donnai-Barrow Syndrome |
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Partial agenesis of the corpus callosum, Bicornuate uterus, Agenesis of corpus callosum |
OMIM:222448 |
Alpha-Mannosidosis |
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Craniofacial hyperostosis, Inguinal hernia, Bowing of the long bones, Hepatomegaly, Short neck, K... |
ORPHA:61 |
Acrorenal-Mandibular Syndrome |
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Congenital diaphragmatic hernia, Hemivertebrae, Hypoplasia of the ulna, Split hand, Bicornuate ut... |
OMIM:200980 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl... |
OMIM:210710 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
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Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis, Join... |
OMIM:618323 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
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Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Hyperhidrosis, Lymphaden... |
ORPHA:86893 |
Hereditary Pheochromocytoma-Paraganglioma |
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Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperca... |
ORPHA:29072 |
Rothmund-Thomson Syndrome, Type 2 |
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Congenital hip dislocation, Small for gestational age, Kyphoscoliosis, Cryptorchidism, Short thum... |
OMIM:268400 |
Hand-Foot-Genital Syndrome |
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Bicornuate uterus, Hypospadias, Abnormality of the uterus |
ORPHA:2438 |
Endometrial Cancer |
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Endometrial carcinoma |
OMIM:608089 |
Hydrolethalus Syndrome 1 |
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Omphalocele, Accessory spleen, Hypospadias, Abnormal cortical gyration, Bifid uterus, Preaxial ha... |
OMIM:236680 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Joint laxity, Hallux valgus, Kyphoscoliosis, Cardiomegaly, Cryptorchidism, Kyphosis, Pineal cyst,... |
OMIM:300967 |
Fanconi Anemia, Complementation Group P |
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Pancytopenia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Squamous cell ... |
OMIM:613951 |
Desmosterolosis |
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Increased bone mineral density, Abnormal cortical gyration, Micromelia, Metatarsus adductus, Sple... |
ORPHA:35107 |
Hutchinson-Gilford Progeria Syndrome |
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Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Absence of subcut... |
ORPHA:740 |
Zimmermann-Laband Syndrome 3 |
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Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan... |
OMIM:618658 |
Benign Paroxysmal Torticollis Of Infancy |
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Torticollis, Pallor |
ORPHA:71518 |
Beta-Mercaptolactate Cysteine Disulfiduria |
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Arachnodactyly, Sandal gap, Micromelia, Obesity, Genu valgum, Joint hyperflexibility, Umbilical h... |
ORPHA:1035 |
Aicardi Syndrome |
|
Proximal placement of thumb, Hemivertebrae, Hepatoblastoma, Pachygyria, Dilated third ventricle, ... |
OMIM:304050 |
Klippel-Trénaunay Syndrome |
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Patent ductus arteriosus, Hemangioma, Tall stature, Abnormality of the menstrual cycle |
ORPHA:90308 |
Rhizomelic Limb Shortening With Dysmorphic Features |
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Hyperextensibility of the finger joints, Rhizomelia, Short neck, Short thumb, Obesity, Limited sh... |
OMIM:618821 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Obesity Due To Sim1 Deficiency |
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Hyperinsulinemia, Obesity |
ORPHA:369873 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Osteopenia, Joint laxity, Decreased serum iron, Precocious puberty, Cryptorchidism, Abnormality o... |
ORPHA:438213 |
Ck Syndrome |
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Hyperlordosis, Pachygyria, Kyphosis, Abnormal digit morphology, Scoliosis, Abnormal cortical bone... |
OMIM:300831 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
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Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Clubbing of fingers,... |
OMIM:618982 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Precocious puberty, Cryptorchidism, Patent ductus arteriosus, Scoliosis |
OMIM:616682 |
Multiple Endocrine Neoplasia, Type Iv |
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Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Loeys-Dietz Syndrome |
|
Striae distensae, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Atypical scarring of... |
ORPHA:60030 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... |
ORPHA:79644 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
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Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... |
ORPHA:226313 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
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Head titubation, Kyphosis, Knee flexion contracture, Rectovaginal fistula, Bilateral talipes equi... |
OMIM:619708 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Mend Syndrome |
|
Sacral dimple, Redundant neck skin, Broad hallux, Overlapping toe, Cryptorchidism, Kyphosis, Long... |
OMIM:300960 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Cachexia |
ORPHA:1389 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Micropenis, Hepatome... |
OMIM:620076 |
Achondroplasia |
|
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Kyp... |
ORPHA:15 |
White-Kernohan Syndrome |
|
Joint laxity, Obesity, Hip dysplasia, Rectovaginal fistula, Hypothyroidism |
OMIM:619426 |
Winchester Syndrome |
|
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... |
OMIM:277950 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Hypospadias, Broad hallux, Avascular necrosis of the capital femoral epiphysis, Cry... |
ORPHA:353281 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Asplenia, Flexion contracture, Calcaneovalgus deformity, Webbed penis, Micropenis,... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Asplenia, Flexion contracture, Calcaneovalgus deformity, Webbed penis, Micropenis,... |
ORPHA:261537 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Torticollis, Elevated circulating creatine kinase concentration, Short neck, Spinal rig... |
ORPHA:75840 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
Familial Focal Epilepsy With Variable Foci |
|
Polymicrogyria, Pallor |
ORPHA:98820 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Astrocytosis, Cardiomyopathy, Pontocerebellar atrophy, Reduced left ventricular ejection fraction... |
ORPHA:258 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Malakoplakia |
|
Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Skin ulcer, Prostate neoplasm |
ORPHA:556 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Short neck, ... |
ORPHA:529962 |
Supranuclear Palsy, Progressive, 1 |
|
Cerebral atrophy, Granulovacuolar degeneration, Astrocytosis, Irritability, Senile plaques, Glios... |
OMIM:601104 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Hepatomegaly, Pancytopenia, Pancreatic fibrosis, Small for gestational age,... |
OMIM:557000 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Bicarbonaturia, Osteomalacia, Cryptorchidism,... |
OMIM:309000 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Cryptorchidism, Hypoplasia of the radius,... |
ORPHA:3412 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Inguinal hernia, Male pseudohermaphroditism |
ORPHA:2856 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the thyroid gland, Kyphosis... |
ORPHA:3344 |
Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Abnormal tibia morphology, Hemivertebrae, Hip dislocation, Abno... |
ORPHA:93929 |
Wolfram Syndrome |
|
Diabetes mellitus, Joint stiffness, Abnormal mesentery morphology, Myopathy, Hypogonadism, Delaye... |
ORPHA:3463 |
Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Disproportio... |
ORPHA:2058 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Hip dysplasia, Failure to thrive, Facial myokymia |
OMIM:620007 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymp... |
OMIM:209950 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Inguinal hernia, Vertebral fusion, Sacral dimple, Decrea... |
OMIM:213980 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Broad hallux, Obesity, Scoliosis, Polysplenia, Clinodactyly of the 5th finger, Failure to thrive,... |
OMIM:610543 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
11 pairs of ribs, Abnormal external genitalia, Camptodactyly of finger, Hypospadias, Metatarsus a... |
OMIM:607872 |
Rett Syndrome |
|
Skeletal muscle atrophy, Cachexia, Kyphosis, Short foot, Scoliosis |
OMIM:312750 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Abnormality of the vertebral column, Obesity |
ORPHA:2206 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Bone-marrow foam cells, Hype... |
ORPHA:275761 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Rectovaginal fistula |
OMIM:608980 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Inc... |
OMIM:617404 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma |
ORPHA:764 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Petechiae, Chronic noninfectious lymphadenopathy, Eosi... |
OMIM:603909 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... |
OMIM:266200 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Episodic hyperhidro... |
ORPHA:276621 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Spina bifida occulta |
OMIM:617466 |
Retinitis Pigmentosa 51 |
|
Pallor, Polydactyly, Obesity |
OMIM:613464 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hypothyroidism, Short toe, Obesity, Short phalanx of f... |
OMIM:600430 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Tapered finger, P... |
OMIM:620005 |
Monosomy 13Q34 |
|
Metrorrhagia, Hypercalcemia, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyly, Hep... |
ORPHA:96168 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Hsd10 Disease, Infantile Type |
|
Restlessness, Diffuse cerebral atrophy, Abnormal circulating enzyme concentration or activity, Ce... |
ORPHA:391428 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Telangiectasia of the skin, Retinal telangiectasia, Neoplasm, Neurodegeneration |
ORPHA:438134 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Cdags Syndrome |
|
Hypospadias, Sagittal craniosynostosis, Kyphosis, Rectovaginal fistula, Short ribs, Lambdoidal cr... |
OMIM:603116 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Anemia |
ORPHA:2598 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Aicardi Syndrome |
|
Block vertebrae, Hiatus hernia, Precocious puberty, Missing ribs, Polymicrogyria, Rib fusion, Sma... |
ORPHA:50 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Supernumerary nipple, Short neck, Broad distal phalanx of the toes, Cryptorchidi... |
OMIM:619194 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Failure to thrive, Decreased... |
OMIM:620040 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the pha... |
OMIM:615630 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Familial Afibrinogenemia |
|
Menometrorrhagia, Miscarriage |
ORPHA:98880 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Large for gestational age, Increased circulating free fatty acid level, Enlarged tonsils, Abnorma... |
ORPHA:293964 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Fasting hyperinsulinemia,... |
ORPHA:97279 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Sandal gap, Small hand, In... |
OMIM:270450 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Sacral dimple, Hyperlordosis, Precocious puberty, Short neck, Scoliosis, Macroorchidism, Hemangio... |
OMIM:619950 |
Clark-Baraitser Syndrome |
|
Clinodactyly, Sandal gap, Obesity |
OMIM:617752 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal rigidity, Kyphosis, Sho... |
OMIM:300718 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Joint laxity, Juvenile myelomonocytic leukemia, Short neck, Cryptorchidism, Splenomegaly, Hepatos... |
OMIM:613563 |
Shox-Related Short Stature |
|
Short neck, Obesity, Genu valgum, Short foot, Tibial bowing, Skeletal muscle hypertrophy, Forearm... |
ORPHA:314795 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Redundant skin, Kyphoscoliosis, Bilateral c... |
OMIM:617403 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Hyperlordosis, Adenoma sebaceum, Abnormal hip bone morphology, Scoliosis, Neoplasm of the skin, A... |
ORPHA:3353 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Obesity, Tapered finger |
OMIM:618725 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Cryptorchidism, Kyphosis, Spinal canal stenosis, Fused ... |
ORPHA:1724 |
Short-Rib Thoracic Dysplasia 12 |
|
Short neck, Bowing of the legs, Short palm, Hepatomegaly, Hamartoma of tongue, Short toe, Short r... |
OMIM:269860 |
Waardenburg Syndrome |
|
Abnormal vagina morphology, Abnormality of the uterus |
ORPHA:3440 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Abnormality of the tonsils, Thrombocytopeni... |
ORPHA:47 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Micropenis, Vaginal dryness, Hypospadias, Supernumerary nipple |
OMIM:106260 |
Granulomatosis With Polyangiitis |
|
Diabetes insipidus, Elevated circulating C-reactive protein concentration, Skin ulcer, Weight los... |
ORPHA:900 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Hip dislocation, Obesity, Thin ... |
OMIM:618395 |
Lymphatic Malformation 6 |
|
Splenomegaly, Hydrocele testis, Scoliosis, Cellulitis, Intestinal lymphangiectasia, Ascites, Hypo... |
OMIM:616843 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Small for gestational age, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, ... |
OMIM:615834 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Kyphoscoliosis, Abnormal toe morphology, Obesity, Muscular d... |
ORPHA:459033 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Dysphagia, Cerebral cortical atrophy |
OMIM:617672 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Jaundice, Astrocytosis, Prolonged prothrombin... |
ORPHA:309854 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Abnormal vertebral morphology, Portal hypertension, Abnor... |
ORPHA:284 |
Huntington Disease-Like 1 |
|
Abnormal shoulder morphology, Abnormal posturing, Weight loss |
ORPHA:157941 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Charge Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Facial palsy, Cryptorchidism, Abnormal tibia morpho... |
ORPHA:138 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Lymphopenia, Autoimmune hemolytic ane... |
ORPHA:331206 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Wrinkly Skin Syndrome |
|
Osteopenia, Inguinal hernia, Congenital hip dislocation, Scapular winging, Redundant skin, Hypopl... |
OMIM:278250 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Back pain, Abnormal curvature of the vertebral column, Micropenis, Hepatic steatos... |
OMIM:619475 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Flexion c... |
OMIM:601803 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Xerostomia, Wei... |
ORPHA:85443 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Phimosis, Flexion contracture, Xerostomia, Erythema, Skin ulcer, Weight ... |
ORPHA:99921 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Perisylvian polymicrogyria, Small... |
OMIM:618443 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Hypothyroidism, Small hand, O... |
ORPHA:444077 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Clinodactyly, Tall stature |
OMIM:618089 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Osteoporosis, Increased body weight, Abdominal obesity |
OMIM:615954 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
Faundes-Banka Syndrome |
|
Premature thelarche, Cryptorchidism, Lumbar hemivertebrae, Delayed puberty, Failure to thrive |
OMIM:619376 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Hallux valgus, Cone-shaped epiphysis, Obesity |
OMIM:606772 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Obesity, Cone-shaped epiphyses of the 2nd to... |
ORPHA:397973 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Abnormality of the uterus, Triphalangeal thumb, Clinodactyly ... |
ORPHA:857 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Myositis, Elevated circulating C-reactive protein concentration, Orchitis, Abnormal sa... |
ORPHA:32960 |
X-Linked Creatine Transporter Deficiency |
|
Joint hyperflexibility, Abnormal circulating creatine concentration, Redundant skin, Cachexia |
ORPHA:52503 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Arachnodactyly, Abnormal thumb morphology, Cryptorchidism, Limitation of joint m... |
ORPHA:2719 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... |
OMIM:234250 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hypospadias, Ca... |
ORPHA:2461 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Pseudoachondroplasia |
|
Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoarthritis, Metaphyse... |
OMIM:177170 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Finger syndactyly, Inguinal hernia, Overlapping fingers, Hypospadias, Overlapping toe, Kyphosis, ... |
ORPHA:464738 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Rocker bottom... |
ORPHA:163979 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Congenital diaphragmatic hernia, Large for gestational age, Hydrocele testis, Abnormal ilium morp... |
OMIM:614080 |
Insulin-Like Growth Factor I Deficiency |
|
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration |
OMIM:608747 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Inguinal hernia, Short metacarpal, Tapered finger, Coxa ... |
OMIM:303600 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Asplenia, Flexion contracture, Calcaneovalgus deformity, Webbed penis, Micropenis,... |
ORPHA:261552 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Polycythemia, Intrahepatic cholestasis, C... |
OMIM:606812 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... |
OMIM:163950 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Inguinal hernia, Short metacarpal, Short femur, Short neck, Cryptorc... |
OMIM:616145 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Hip flexor weakness, Increased serum beta-hexosaminidase, Lower limb mus... |
ORPHA:845 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor, Failure to thrive |
ORPHA:99931 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Abnormal curvature of the vertebral column, Abnormality of the cervical spine, Joint laxity, Synd... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Abnormal curvature of the vertebral column, Abnormality of the cervical spine, Joint laxity, Synd... |
ORPHA:353277 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Subdural hemorrhage, Retinal hemorrhage, Astrocytosis, Cardiomyopa... |
ORPHA:90324 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus |
ORPHA:3198 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Esophageal neoplasm, Clubbing of toes, Weight loss, Ascites |
ORPHA:2198 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Aggressive behavior, Cerebral atrophy, Depression, Neurodegeneration, Compuls... |
OMIM:615157 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility |
ORPHA:730 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab... |
ORPHA:2635 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Petechiae, Elevated circulating C-reactive protein conce... |
ORPHA:90051 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Inguinal hernia, Short neck, Large for gestational age, Cryptorchidi... |
OMIM:607721 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Weight loss, Neopl... |
ORPHA:69077 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Pallor, Triphalangeal thumb, Neut... |
OMIM:105650 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... |
OMIM:254090 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Kyphosis, Osteoporosis, Myopathy, Macrovesicular hepatic steatosis, Scoliosis, Fail... |
OMIM:618234 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Elevated circulating parathyroid hormone level, Pheoch... |
ORPHA:97685 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Short neck, Obesity, Femoral bowing,... |
ORPHA:2563 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron... |
OMIM:619991 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... |
ORPHA:98850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Elevated circulating creatine kinas... |
OMIM:606612 |
Pachydermoperiostosis |
|
Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim... |
ORPHA:2796 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Obesity, Thenar muscle atrophy |
OMIM:604360 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Dravet Syndrome |
|
Limited knee extension, Pallor, Tibial torsion |
ORPHA:33069 |
Aspartylglucosaminuria |
|
Joint laxity, Hepatomegaly, Kyphosis, Vacuolated lymphocytes, Neutropenia, Macroglossia, Platyspo... |
OMIM:208400 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Weight loss, Hyperhidrosis, Lymphad... |
ORPHA:1332 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Infantile Krabbe Disease |
|
Failure to thrive, Shoulder girdle muscle weakness, Cachexia |
ORPHA:206436 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Hypothyroidism, Hemolytic anemia, Hepatomegaly, Hyperthyroidi... |
ORPHA:797 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Osteoporosis, Increase... |
OMIM:615830 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Weight loss, Lymphadenopathy, Abnormal skeletal muscle morpholog... |
ORPHA:142 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Palpable purpura, Elevated circulati... |
ORPHA:48435 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Intrinsic hand muscle atrophy, Increased susceptibility to fractures |
OMIM:304700 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Arachnodactyly, Protr... |
ORPHA:558 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Cachexia, Abnormality of the thyroid gland, Kyphosis,... |
ORPHA:1969 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Vertebral segmentation defect, Narrow greater sciati... |
OMIM:312870 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pallor, Neutrop... |
ORPHA:3260 |
Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Abnormality of the uterus |
ORPHA:59315 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Abnormal sacroiliac joint m... |
ORPHA:324964 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... |
OMIM:269150 |
Isolated Epispadias |
|
Anteriorly displaced urethral meatus, Epispadias, Abnormal pelvic girdle bone morphology, Bifid c... |
ORPHA:93928 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Primary amenorrhea, ... |
OMIM:603457 |
Spontaneous Periodic Hypothermia |
|
Pallor, Hyperhidrosis |
ORPHA:29822 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Arachnodactyly, Abnormal dental enamel morphology, Cachexia, Protrusio a... |
ORPHA:828 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... |
ORPHA:93360 |
Leukodystrophy, Hypomyelinating, 13 |
|
Failure to thrive, Exaggerated startle response, Joint contracture |
OMIM:616881 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity, Tapered finger |
ORPHA:85280 |
X-Linked Intellectual Disability, Hedera Type |
|
Calcaneovalgus deformity, Obesity, Scoliosis, Left ventricular hypertrophy, Hypomimic face |
ORPHA:93952 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Skeletal muscle atrophy, Glioma, B-cell lymphoma, ... |
ORPHA:647 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Inguinal hernia, Large for gestational age, Broad 2nd toe, Dry skin, Hydrocele test... |
OMIM:280000 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Sandal gap, Tapered finger, Obesity, Scoliosis, Clinodactyly of the 5th finger, Tall stature |
OMIM:618430 |
Bladder Exstrophy |
|
Omphalocele, Inguinal hernia, Hypoplasia of penis, Epispadias, Abnormality of the clitoris, Umbil... |
ORPHA:93930 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Skeletal muscle atrophy, Kyphosis, Splenomegaly, Flexion contractu... |
ORPHA:87876 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Cachexia, Craniosynostosis, Cone-shaped epiphysis,... |
ORPHA:808 |
Man1B1-Cdg |
|
Short neck, Periventricular heterotopia, 2-3 toe syndactyly, Cutis laxa, Truncal obesity, Clinoda... |
ORPHA:397941 |
Renal Agenesis, Bilateral |
|
Abnormal sacrum morphology, Abnormal morphology of female internal genitalia, Sirenomelia |
ORPHA:1848 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype... |
ORPHA:20 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... |
OMIM:169400 |
Okamoto Syndrome |
|
Omphalocele, Redundant neck skin, Bifid uterus, Splenomegaly, Hip dysplasia, Polydactyly, Scolios... |
ORPHA:2729 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Neurodegeneration, Atrophy/Degeneration affecting the brainstem |
OMIM:612319 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the thyroid gland, Increased body weight, Scoliosis, Short p... |
OMIM:182290 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Xerostomia, Depression, Agitation, Neurodege... |
ORPHA:803 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Decreased circulating parathyroid hormone level, Weight loss |
OMIM:143880 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Felty Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Limitation of joint mobility, Neutropenia, Osteolys... |
ORPHA:47612 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... |
ORPHA:449395 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis |
ORPHA:505652 |
Cold Agglutinin Disease |
|
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Aspartylglucosaminuria |
|
Hepatomegaly, Inguinal hernia, Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthri... |
ORPHA:93 |
Incontinentia Pigmenti |
|
Scarring, Supernumerary nipple, Kyphoscoliosis, Eosinophilia, Leukocytosis, Erythema, Hemivertebr... |
OMIM:308300 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Hepatic s... |
OMIM:613658 |
Behçet Disease |
|
Myositis, Orchitis, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis, Pancreatitis |
ORPHA:117 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Splenomegaly, Hypohidrosis, Hypogonadism, Arthrogryposis multiplex congenita |
ORPHA:163746 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614619 |
Isaacs Syndrome |
|
Hyperhidrosis, Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Sotos Syndrome |
|
Astrocytoma, Flexion contracture, Neoplasm, Hypothyroidism, Abnormal vertebral morphology, Joint ... |
ORPHA:821 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, Kyphoscoliosis, Large for g... |
ORPHA:457359 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Failure to thrive, Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Obesity, Thoracic kyphosis, Overgrowth, Scoliosis |
OMIM:620250 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormality of the menstrual cycle, Genital hernia, Cystocele, Osteoarthritis, L... |
ORPHA:285 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hyperammonemia, Pallor, Hyperuricemia, Anemia |
OMIM:246450 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Osteolysis, Hyperhidrosis, Lymphadenopathy, Weight loss, Ne... |
ORPHA:391 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Neurodegeneration, Reduced galactocerebrosidase activity |
OMIM:245200 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias |
OMIM:615877 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Flexion contracture |
OMIM:609541 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... |
OMIM:613327 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Anhidrosis, Recurrent fractures, Abnormal dental enamel morphology, Craniosynostosis, Hypercalcem... |
ORPHA:251004 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Monkey wrench femoral... |
OMIM:615777 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... |
ORPHA:398063 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Slender finger, Short neck |
OMIM:613192 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
Takayasu Arteritis |
|
Skin ulcer, Hyperhidrosis, Weight loss, Arthritis, Anemia |
ORPHA:3287 |
Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hallu... |
OMIM:194050 |
Srd5A3-Cdg |
|
Decreased response to growth hormone stimulation test, Microcytic anemia, Kyphosis, Abnormal sacr... |
ORPHA:324737 |
Masa Syndrome |
|
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis |
OMIM:303350 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Elevated circulating C-reactive protein concentration, Perianal abscess, Weight loss, Arthritis, ... |
OMIM:301074 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervou... |
OMIM:256600 |
6Q16 Microdeletion Syndrome |
|
Obesity, Tapered finger |
ORPHA:171829 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hiatus hernia |
OMIM:614618 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Idiopathic Intracranial Hypertension |
|
Back pain, Obesity |
ORPHA:238624 |
Ramon Syndrome |
|
Enlarged labia minora, Kyphosis, Gingival fibromatosis, Scoliosis, Decreased body weight, Juvenil... |
OMIM:266270 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Cryptorchidism, Abnormal pe... |
ORPHA:93271 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Multiple joint contractures |
ORPHA:320406 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Congenital Heart Block |
|
Pallor, Hyperhidrosis |
ORPHA:60041 |
Central Diabetes Insipidus |
|
Hyponatremia, Failure to thrive, Diabetes insipidus, Weight loss |
ORPHA:178029 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Death in infancy |
ORPHA:1354 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Cryptorchidism, Multiple renal cysts, Abnormality of the uterus, Abnormal fa... |
ORPHA:99776 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Elevated circulating cre... |
OMIM:300280 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... |
OMIM:223800 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Pallor, Thrombocytosis |
ORPHA:134 |
Hyperekplexia 1 |
|
Umbilical hernia, Exaggerated startle response, Inguinal hernia |
OMIM:149400 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
Early Infantile Epileptic Encephalopathy |
|
Precocious puberty, Pachygyria, Broad finger, Short finger, Umbilical hernia, Micropenis, Failure... |
ORPHA:1934 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Hepatomegaly, Abnormal mitochondrial shape, Hypospadias, S... |
ORPHA:17 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Craniosynostosis, Congenital diaphragmatic hernia, Rib fusion, Obes... |
ORPHA:261197 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Weight loss... |
ORPHA:3163 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reacti... |
OMIM:619381 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Weight loss, Central hypothyroi... |
ORPHA:514 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Vaginal neoplasm, Myelodysplasia, Rhabdomyosa... |
ORPHA:1052 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Weight loss, Knee flexion contracture, Distal amyotrophy, Skeletal myopa... |
ORPHA:3208 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
Den Hoed-De Boer-Voisin Syndrome |
|
Sandal gap, Overweight, Small hand, Obesity, 2-3 toe syndactyly, Short foot, Scoliosis, Decreased... |
OMIM:619229 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Gliosis, Neurodegeneration, Neuronal loss in central nervous system, Agenesis... |
OMIM:616239 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Diabetes mellitus, Opisthotonus |
OMIM:184850 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Small for gestational age, Hypospadias, Increased mean platelet volume, Avascular n... |
OMIM:222470 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Large for gestational age, Kyphosis, Overgrowth, Nephroblastoma |
OMIM:618272 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Liver abscess, Cholangitis, Hypercholesterolemia, Overweight, Intrahepatic cho... |
ORPHA:69663 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Arthritis |
ORPHA:42642 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnormal ... |
ORPHA:2273 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Anterior concavity of thoracic vertebrae, Short ... |
OMIM:216340 |
African Trypanosomiasis |
|
Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the endocrine system, Splenomega... |
ORPHA:3385 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Inguinal hernia, Hypospadias, Kyphosis, Radial deviation of finger, Clinodactyly |
OMIM:609944 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Long hallux, Obesity, Tapered finger |
OMIM:619854 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Failure to thr... |
ORPHA:90045 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytopenia... |
ORPHA:508533 |
Teratoma, Ovarian |
|
Ovarian teratoma |
OMIM:166950 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Hypospadias, Myelody... |
OMIM:305000 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased total bilirubin |
ORPHA:890 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Abnormality of neutrophils, Thrombocytopenia, Erythema, Weight loss, Pancreatitis, A... |
ORPHA:36426 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Erythema, Scoliosis, Dry skin |
ORPHA:816 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Patent ductus arteriosus, Obesity, Scoliosis, Decreased body weight |
ORPHA:589821 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Petechiae, Abnormality of the menstrual cycle, ... |
ORPHA:906 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin concentratio... |
OMIM:620306 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis, Cellul... |
ORPHA:3165 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Dry skin, Obesity, Joint hypermobility |
OMIM:620191 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Flexion contracture, Elbow flexion c... |
OMIM:617301 |
Bartsocas-Papas Syndrome 1 |
|
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... |
OMIM:263650 |
Benign Recurrent Intrahepatic Cholestasis |
|
Jaundice, Weight loss, Cholestatic liver disease, Acholic stools, Cirrhosis, Hepatocellular carci... |
ORPHA:65682 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Obesity, Hyperuricemia |
ORPHA:261222 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Congenital hip dislocation, Premature thelarche, Autoimmune thrombocytopenia, C... |
OMIM:147920 |
Lymphangioleiomyomatosis |
|
Renal neoplasm, Retinal hamartoma, Renal angiomyolipoma, Abnormality of the lymphatic system, Abn... |
ORPHA:538 |
Igg4-Related Ophthalmic Disease |
|
Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Thyroiditis, Sialadeni... |
ORPHA:449563 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, T lymphocytopenia, Lymph node hypo... |
OMIM:300755 |
Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Osteochondroma, Cardiac rhabdomyoma |
OMIM:618971 |
Hirschsprung Disease |
|
Adducted thumb, Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Rhabdomyolysis, Weight loss, Hypokalemia, Goiter |
OMIM:188580 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
White-Sutton Syndrome |
|
Joint laxity, Facial hypotonia, Congenital diaphragmatic hernia, Short neck, Obesity, Broad thumb... |
OMIM:616364 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
Thanatophoric Dysplasia |
|
Redundant skin, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Join... |
ORPHA:2655 |
Bladder Exstrophy And Epispadias Complex |
|
Abnormal pelvic girdle bone morphology, Epispadias, Inguinal hernia, Bifid clitoris |
OMIM:600057 |
Hereditary Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:30925 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal creas... |
OMIM:108145 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Disproportionate t... |
OMIM:162300 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Short neck, Kyphosis, Hip dislocation, Hepatosplenomegaly, Ascites, Polycystic kidn... |
OMIM:608776 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Weight loss, Increased susceptibility to fractures |
ORPHA:216866 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Achilles tendon cont... |
OMIM:615418 |
Adiposis Dolorosa |
|
Xerostomia, Obesity, Arthritis, Dry skin, Hypothyroidism |
ORPHA:36397 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... |
OMIM:619418 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Preaxial hand polydactyly, Short toe, Erythroid hypopl... |
OMIM:620072 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation |
OMIM:616307 |
Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Neurodegeneration, Cerebral atrophy |
ORPHA:309246 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Joint hypermobility |
OMIM:619056 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,... |
OMIM:603041 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, A... |
OMIM:253000 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor... |
ORPHA:137834 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Congenital hip dislocation, ... |
OMIM:618291 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Failure to thrive, Exaggerated startle response, Joint contracture |
OMIM:617864 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Obesity, Left ventricular hypertrophy, Anemia |
ORPHA:563 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Gray matter heterotopia, Hand polydactyly, Radial deviation of finger, Scol... |
OMIM:300337 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Purpura, Abnormality of neutrophils, Splenomegaly, Lymphoma, Lym... |
ORPHA:33226 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Restlessness, Abnormal circulating enzyme concentration or activity, Abnormal erythrocyte enzyme ... |
ORPHA:100924 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Abnormal posturing, Scoliosis, Hyperlordosis |
OMIM:128100 |
Vascular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Congenital hip dislocation, Hypospadias, Redundant skin, Cryptorchidism, Osteoar... |
ORPHA:286 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating creatine kinase concentration, Hyperhidrosis, Leukopenia, Cholec... |
ORPHA:99827 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Generalized amyotr... |
ORPHA:171 |
Spondyloenchondrodysplasia |
|
Enchondroma, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Decreased response... |
ORPHA:1855 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dry skin |
ORPHA:220295 |
Hermansky-Pudlak Syndrome |
|
Menometrorrhagia, Abnormal dental enamel morphology, Weight loss, Basal cell carcinoma, Squamous ... |
ORPHA:79430 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Increased total bilirubin |
ORPHA:90037 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Inguinal hernia, Osteoarthritis of the small joints of the hand, Arachnodactyly, Ca... |
ORPHA:284984 |
Orofaciodigital Syndrome Type 4 |
|
Monorchism, Primary adrenal insufficiency, Perineal fistula, Rectovaginal fistula, Absent testis,... |
ORPHA:2753 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis, Slender build, Tall stature |
OMIM:300676 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Short neck, Large for gestational age, Birth length greater than 9... |
OMIM:300868 |
Gaucher Disease Type 1 |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, ... |
ORPHA:77259 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Pallor, Poikilocytosis, Prol... |
OMIM:300908 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Hepatic f... |
OMIM:610199 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, Kyphosis, Joint hyperflexibility, Disproportionate tall stature, Shoulder disloca... |
ORPHA:2181 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Elbow flexion contracture, Obesity, Genu valgum, Scoliosis, Finger joi... |
OMIM:618493 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Limb joint contracture |
OMIM:620327 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking ... |
OMIM:230650 |
Kaposi Sarcoma |
|
Generalized lymphadenopathy, Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by... |
ORPHA:33276 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Hand muscle weakness... |
ORPHA:98908 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos... |
OMIM:619040 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Splenomegaly... |
ORPHA:583 |
American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor, Lymphadenopathy |
ORPHA:3386 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Facial palsy, Hyperlordosis, Short neck, Kyph... |
ORPHA:171436 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy, Weight loss |
ORPHA:50251 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Abno... |
ORPHA:667 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Narrow greater sciatic notch, Anterior beaking o... |
OMIM:253220 |
X-Linked Intellectual Disability, Stevenson Type |
|
Tapered finger, Obesity, Genu valgum, Large hands, Tall stature |
ORPHA:85325 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Aggressive behavior, Dilated cardiomyopathy, Cerebral atrophy, Irritability, Gliosis... |
OMIM:618321 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Gray matter heterotopia, Micropenis, Decreased testicular size, Type II lissencephaly |
OMIM:615287 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy, Aggressive behavior |
OMIM:300894 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Rhizomelic Syndrome, Urbach Type |
|
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Preaxial hand polyda... |
ORPHA:3098 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Lymphoma, Pallor, Increased total bilirubin |
ORPHA:90036 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... |
OMIM:618019 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Familial Mediterranean Fever |
|
Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Erythema, Lymphadenopathy, Arthritis, Ascite... |
ORPHA:342 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Redundant skin, Micromelia, Joint stiffness, Hypoplastic i... |
ORPHA:1860 |
Branchiooculofacial Syndrome |
|
Hypospadias, Facial palsy, Supernumerary nipple, Short neck, Hyperlordosis, Cryptorchidism, Kypho... |
OMIM:113620 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Skeletal muscle atrophy, Kyphosis, Jaundi... |
OMIM:615512 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gall... |
ORPHA:349 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemic pallor, Single lineage... |
ORPHA:86839 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Hyperhidrosis, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Hepatomegaly, Hypoplasia of the fe... |
OMIM:607014 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss, Hernia, Ascites |
ORPHA:26790 |
Zimmermann-Laband Syndrome 1 |
|
Hyperextensibility of the finger joints, Hepatomegaly, Splenomegaly, Long penis, Gingival fibroma... |
OMIM:135500 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Disseminated cutaneous warts, Weight loss, Abnormal lymphat... |
ORPHA:90362 |
Thanatophoric Dysplasia Type 2 |
|
Redundant skin, Micromelia, Kyphosis, Limitation of joint mobility, Abnormality of neuronal migra... |
ORPHA:93274 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Lymphopenia, Severe B lymphocytopenia, Aplasia of the t... |
OMIM:102700 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Flexion contracture, Abnormal tibia mo... |
ORPHA:666 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Immunodeficiency 31C |
|
Osteopenia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Diabetes me... |
OMIM:614162 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... |
ORPHA:94068 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Kyphosis, Decre... |
OMIM:259440 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100080 |
Rheumatic Fever |
|
Arthritis, Erythema, Aplasia/Hypoplasia of the abdominal wall musculature, Pallor |
ORPHA:3099 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Hypospadias, Tarsal synostosis, Abnormal dental enamel morphology, Aplastic clavicle, Kyphosis, C... |
ORPHA:85199 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Hyperactivity, Premature ovarian insufficiency, Glioma, Rhabdomyosar... |
OMIM:251260 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Phimosis, Flexion ... |
ORPHA:2908 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... |
OMIM:620351 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Hyperlordosis, Short neck, Kyphosis, Joint stiffness, Flat c... |
OMIM:252605 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Central hypoth... |
ORPHA:95427 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Increased circulating ACTH level, Weight los... |
ORPHA:100075 |
Bullous Pemphigoid |
|
Erythema, Diabetes mellitus, Weight loss |
ORPHA:703 |
Crisponi Syndrome |
|
Death in infancy, Kyphosis, Hyperhidrosis, Hypohidrosis, Scoliosis |
ORPHA:1545 |
Mgat2-Cdg |
|
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of the endocr... |
ORPHA:79329 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Exercise-induced rhabdomyolysis, Small for gestational age, Elevated circulating cr... |
ORPHA:26793 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Central nervous system degeneration, Ischemic stroke, Neurodegeneration,... |
ORPHA:447788 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, ... |
OMIM:314580 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Osteolysis, Weight loss, Abnormal tibial metaphysis morph... |
ORPHA:668 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal hip joint morphology, Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal... |
ORPHA:85408 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial palsy, Short neck, Kyph... |
OMIM:301041 |
Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Short phalanx of finger, Hypoplastic cervical vertebra... |
ORPHA:56304 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Xylt1-Cdg |
|
Joint laxity, Hepatomegaly, Coxa valga, Flared metaphysis, Truncal obesity, Short long bone, Shor... |
ORPHA:370930 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elevated ci... |
OMIM:618138 |
Lacrimoauriculodentodigital Syndrome |
|
Cryptorchidism, Xerostomia, Bicornuate uterus, Dysphagia, Abnormal salivary gland morphology, Cor... |
ORPHA:2363 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Distal amyotrophy, Scoliosi... |
ORPHA:3454 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Brain abscess, Diabetes mellitus, Leukocytosis, Hyperkalemia, Hyp... |
ORPHA:544482 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Kyphosis, Erythema, Abnormal for... |
ORPHA:3219 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Increased serum serotonin, Atyp... |
ORPHA:100082 |
Dysbetalipoproteinemia |
|
Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hepatomegaly, Decreased HDL cholesterol... |
ORPHA:412 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hyperuricemia, Pallor, Hyperalaninemia, Hepatic steatosis, Neonatal hyperbilirubinemia |
ORPHA:348 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca |
ORPHA:1112 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Diastasis recti, Craniosynostosis, Limited wrist movement, Kyph... |
ORPHA:576 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... |
OMIM:112350 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse, Congestive heart failure, Mitral regurgitation, Aortic regurgitation |
OMIM:123700 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
OMIM:617435 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Inflammatory Pseudotumor Of The Liver |
|
Diabetes mellitus, Elevated circulating alpha-fetoprotein concentration, Abnormal liver sonograph... |
ORPHA:90003 |
Momo Syndrome |
|
Short neck, Obesity, Large hands, Overgrowth, Short sternum |
OMIM:157980 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Renal Agenesis |
|
Hypertension, Absent vas deferens, Aplasia/hypoplasia of the uterus |
ORPHA:411709 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Brachydactyly, Cachexia, Short palm |
ORPHA:3217 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Rat-Bite Fever |
|
Back pain, Abdominal aseptic abscess, Lymphadenitis, Oligoarthritis, Tendonitis, Weight loss, Ane... |
ORPHA:31205 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... |
ORPHA:2070 |
Smith-Mccort Dysplasia 1 |
|
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... |
OMIM:607326 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Abnormal ossification involving the femoral head and neck, Abnormal fibu... |
ORPHA:1190 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o... |
ORPHA:1858 |
Myelofibrosis |
|
Myelofibrosis, Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Osteootohepatoenteric Syndrome |
|
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesicular hepatic ... |
OMIM:619377 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Abnormal dental enamel morphology, Grayish enamel, Short neck, Hyperlor... |
ORPHA:582 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Neurodegeneration, Emotional lability, Disinhibition, Dysphagia |
OMIM:606159 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm |
ORPHA:238750 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Erythema, Hepatitis, Thyroiditis, Lymphadenopathy, Weight loss, Lymphocytosis |
ORPHA:139402 |
Coffin-Lowry Syndrome |
|
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, S... |
ORPHA:192 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Splenomegaly, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis... |
ORPHA:812 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Exaggerated startle response, Truncal titubation |
OMIM:618056 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis... |
OMIM:108300 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Obesity, Scoliosis |
ORPHA:98794 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Portal hypertension, Impulsivity, Cryptorc... |
OMIM:619503 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Decreased circulating ferritin concentration, Pallor, Hypochromic microcy... |
ORPHA:54028 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Torticollis, Brachydactyly, Obesity, Tapered finger |
OMIM:619680 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia |
ORPHA:90060 |
Giant Cell Arteritis |
|
Joint stiffness, Mediastinal lymphadenopathy, Skin ulcer, Hyperhidrosis, Weight loss, Arthritis, ... |
ORPHA:397 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Angelman Syndrome |
|
Macroglossia, Obesity, Scoliosis |
OMIM:105830 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Contractures of the large ... |
ORPHA:521426 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Hemifacial Atrophy, Progressive |
|
Kyphosis |
OMIM:141300 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Tapered finger, Splenomegaly, Micr... |
OMIM:301072 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Obesity, Macroglossia, Clinodactyly of the 5th finger, Failure t... |
ORPHA:369950 |
White-Sutton Syndrome |
|
Ventral hernia, Joint laxity, Inguinal hernia, Facial hypotonia, Congenital diaphragmatic hernia,... |
ORPHA:468678 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Skeletal muscle atrophy, Hypolysinemia, Recurrent fractures, Thrombocytopenia, Sple... |
OMIM:222700 |
Polymyositis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal muscle fiber morpholog... |
ORPHA:732 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Postaxial polydactyly, Abnormal cortical gyration, Kyphosis, Long fingers, Co... |
OMIM:617527 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Pallor |
ORPHA:209981 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Po... |
OMIM:616959 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Focal Myositis |
|
Myositis, Limitation of joint mobility, Elevated circulating creatine kinase concentration, Weigh... |
ORPHA:48918 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Craniosynostosis, Short neck, Obesity, Camptodactyly of toe |
ORPHA:251038 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Short metacarpal, Brachydactyly, Redundant neck skin, Short neck, Short metatarsal... |
OMIM:617157 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Short neck, ... |
OMIM:611881 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Neurodegeneration, Cerebral atrophy |
OMIM:615491 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Failure to thrive in infancy, Obesity, Overgrowth, Tracheomalacia |
OMIM:620155 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Hyper... |
ORPHA:2479 |
Acrofacial Dysostosis 1, Nager Type |
|
Bicornuate uterus |
OMIM:154400 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Generalized limb muscle atrophy, Distal amyotrophy, Scoliosis, Hypothalamic ... |
ORPHA:2822 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... |
ORPHA:64744 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Lower limb hypertonia, Kyphosis, Upper limb hypertonia |
OMIM:614898 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphol... |
ORPHA:98907 |
Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Generalized joint laxity, Tibial bowing, Broad ribs, ... |
OMIM:613848 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Obesity, Cholestasis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Alternating Hemiplegia Of Childhood |
|
Failure to thrive, Facial hypotonia, Pallor, Hyperhidrosis |
ORPHA:2131 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Joint stiffness, Abnormality of the humerus, Kyphosis,... |
ORPHA:392 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Right-to-left shunt, Bicornuate uterus, Pulmonary arterial hypertension, Annular pan... |
OMIM:265380 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Atypical Rett Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
ORPHA:3095 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr... |
OMIM:153670 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Periventricular heterotopia, Kyphosis, Increased skull ossification, Cr... |
OMIM:618476 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatic steatosis, Hemolytic anemia, Generalized lymphadenopathy, Hepatomegaly, Pancytopenia, Thr... |
OMIM:615846 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Exostoses, Abnormal dental enamel morph... |
ORPHA:1798 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Ost... |
ORPHA:198 |
Achondroplasia |
|
Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Narrow great... |
OMIM:100800 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... |
OMIM:603387 |
Sandifer Syndrome |
|
Torticollis, Hiatus hernia, Abnormal posturing, Anemia, Decreased cervical spine mobility |
ORPHA:71272 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lower limb hypertonia, Dilated third ventricle, Obesity, Limb hypertonia |
OMIM:617296 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis, Cervical ribs |
ORPHA:77300 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... |
ORPHA:2771 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Cerebral atrophy, Neurodegeneration, Dysphagia, E... |
OMIM:610217 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Skin ulcer, Weight loss |
ORPHA:312 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Gray matter heterotopia, Obesity, Brachydactyly |
OMIM:608624 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Splenomegal... |
OMIM:230500 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Impulsivity, Depression, Neurodegener... |
OMIM:614298 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Weight loss, Panniculitis, Hemophagocytosis |
ORPHA:86884 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuro... |
OMIM:256700 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
Q Fever |
|
Hepatomegaly, Osteomyelitis, Thrombocytopenia, Splenomegaly, Hepatitis, Weight loss, Hepatospleno... |
ORPHA:781 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Orthostatic hypotension, Hypohidrosis, Impotence, Neurodegeneration |
OMIM:146500 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Congenital hip dislocation, Ankle flexion contracture, Hyperl... |
ORPHA:2020 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Hepatic arteriovenous malformation, Brain abscess, Juvenile gastrointes... |
ORPHA:2929 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Splenomegaly, Erythema, Weight loss, Panniculitis |
ORPHA:33577 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... |
OMIM:313400 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... |
OMIM:616914 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Scapular winging, Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodacty... |
OMIM:617061 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Titubation |
ORPHA:225147 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... |
OMIM:183900 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... |
ORPHA:424 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Eosinophilia, Weight loss, Arthritis, Purpura |
ORPHA:183 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Elevated circulating C-reactive protein concentration,... |
OMIM:180300 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Joint stiffness, Thenar muscle atrophy, C... |
OMIM:607015 |
Jaberi-Elahi Syndrome |
|
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Failure to thrive, Joi... |
OMIM:617988 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Clubbing, Weight loss, Abnormality of connective tissu... |
ORPHA:79128 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Inguinal hernia, Short metacarpal, Radial bowing, Recurrent fractures, ... |
OMIM:610915 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Brachydactyly, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, H... |
ORPHA:1005 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Hypercalcemia, Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Apl... |
ORPHA:476126 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Inguinal hernia, Short neck, Kyphosis, Splenomegaly, Flexion contracture, Split han... |
OMIM:309900 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co... |
ORPHA:99885 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Ileal Neuroendocrine Tumor |
|
Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemia, Small intestine c... |
ORPHA:100078 |
Castleman Disease |
|
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Elevated circulating C-reactive prote... |
ORPHA:160 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Thrombocytopenia, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:620185 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Abnormal odontoid tissue morphology, Dystonia |
ORPHA:79255 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Multiple myeloma, Weight loss |
ORPHA:188 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Flexion contracture |
OMIM:253800 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Purpura, B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Arthritis, Ac... |
ORPHA:91139 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy, Weight loss |
ORPHA:411703 |
Shashi-Pena Syndrome |
|
Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypert... |
OMIM:617190 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Recurrent fractures, Kyphosis, Thin ribs, Platyspondyly, Lambdoidal craniosynostosis,... |
OMIM:616294 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Arterial rupture, Cervical insufficiency, Mitra... |
ORPHA:287 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Yao Syndrome |
|
Arthritis, Xerostomia, Weight loss |
OMIM:617321 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Clubbing, Weight loss |
ORPHA:79127 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Polycythemia Vera |
|
Myelofibrosis, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenom... |
ORPHA:729 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Cerebellar atrophy, Cutaneous telangiectasia, Neurodegeneration, Dys... |
OMIM:615919 |
Malignant Peritoneal Mesothelioma |
|
Neoplasm, Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
Nephroblastoma |
|
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Weight loss, Neoplasm, Nephroblastoma |
ORPHA:654 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Abnormal circulating enzyme concentration or activity, Neurodegeneration |
ORPHA:79244 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Failure to thrive |
OMIM:615574 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Disproportionate tall stature, Scoliosis |
OMIM:609008 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight, Facial erythema, Skin vesicle, Palmoplantar erythema, Striae distensae |
ORPHA:64745 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... |
ORPHA:131 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Redundant neck skin, Anterior concavity of thor... |
OMIM:249420 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Limb hypertonia |
ORPHA:500180 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... |
OMIM:607459 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Axonal degeneration, Neurodegeneration, Global brain atrophy |
ORPHA:478029 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Hypercalcemia, Fr... |
OMIM:602080 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Myocardial calcification, Hypoa... |
ORPHA:75565 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Primary Sjögren Syndrome |
|
Vaginal dryness, Xerostomia, Thyroiditis, Parotitis |
ORPHA:289390 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Lymphoma, Erythema, Breast carcino... |
ORPHA:221 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Truncal titubation, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Weight los... |
ORPHA:79078 |
Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Abnormal dental enamel morpho... |
ORPHA:2050 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia |
ORPHA:67 |
Pneumocystosis |
|
Abnormal neutrophil count, Neoplasm, Weight loss |
ORPHA:723 |
Liposarcoma |
|
Sarcoma, Weight loss |
ORPHA:69078 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
Chediak-Higashi Syndrome |
|
Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility, Neurodegeneration |
OMIM:214500 |
Congenital Tufting Enteropathy |
|
Arthritis, Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Zttk Syndrome |
|
Absent gallbladder, Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Rib fusion, S... |
OMIM:617140 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... |
OMIM:300106 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Death in early adulthood, Scoliosis |
ORPHA:79107 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Ectopic posterior pituitary, Congenital hip dislocation, Micromelia, Short ne... |
ORPHA:508488 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Decreased circulating ceruloplasmin concentration, Decreased circula... |
OMIM:304150 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Obesity, Truncal obesity, Short palm, Prominent fingertip pads, Brachydactyly |
ORPHA:466950 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... |
ORPHA:420794 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:37 |
Malt Lymphoma |
|
B-cell lymphoma, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Hyperhidrosis, We... |
ORPHA:52417 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Hyperhidrosis, Weight loss, Chronic myeloge... |
ORPHA:71493 |
Glossopharyngeal Neuralgia |
|
Schwannoma, Neoplasm, Abnormality of the cervical spine, Weight loss |
ORPHA:221098 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, Coxa vara, Hypoplastic iliac wing, Increased bone mineral... |
OMIM:119600 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Weight l... |
ORPHA:100086 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... |
OMIM:618050 |
Oromandibular Dystonia |
|
Torticollis, Weight loss |
ORPHA:93958 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Duplicati... |
OMIM:612474 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly |
ORPHA:236 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... |
OMIM:113500 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Hyperactivity, Phonic tics, Depression, Neurodegeneration, Dysphagia, Global brain atrophy, Cereb... |
OMIM:234200 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
Fatal Familial Insomnia |
|
Hyperhidrosis, Weight loss |
OMIM:600072 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Sacral dimple, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent protruding ... |
OMIM:300966 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Small hand, Obesity |
OMIM:614947 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Vaginal stricture, Vaginal dryness, Xerostomia |
ORPHA:95455 |
Acquired Central Diabetes Insipidus |
|
Diabetes insipidus, Weight loss |
ORPHA:95626 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Kyphosis, Scoliosis, Death in childhood |
OMIM:211530 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Erythema, Weig... |
ORPHA:420741 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Patent ductus arteriosus |
OMIM:619909 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Brachydactyly, Obesity, Short palm |
ORPHA:466943 |
Classic Homocystinuria |
|
Hepatomegaly, Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu ... |
ORPHA:394 |
Nocardiosis |
|
Brain abscess, Osteomyelitis, Liver abscess, Lymphadenitis, Peritonitis, Thyroiditis, Weight loss... |
ORPHA:31204 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal... |
ORPHA:2769 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteomalacia, Osteoporosis, Rickets, Weight loss, Iron deficiency anemia, Exocrine pancreatic ins... |
ORPHA:309031 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Scoliosis |
ORPHA:261190 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer, Weight loss |
OMIM:608710 |
Hellp Syndrome |
|
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Increased body ... |
ORPHA:244242 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Arachnodactyly, Large for gestational age, Hyperlordosis, Kyphosis, Disproportionat... |
OMIM:617011 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Lower limb muscle weakness, Scoliosis, Skeletal muscle atrophy |
ORPHA:88644 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,... |
ORPHA:677 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral density, Incre... |
OMIM:166220 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Weight loss |
ORPHA:97286 |
Monosomy 22Q13.3 |
|
Sacral dimple, Obesity, Hypohidrosis, Large hands, Clinodactyly of the 5th finger, Umbilical hernia |
ORPHA:48652 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... |
ORPHA:2388 |
Gerstmann-Straussler Disease |
|
Lower limb muscle weakness, Weight loss |
OMIM:137440 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Elevated circulating creatine kinase concentration, Pachygyria, Muscular dystrophy, Pallor, Polym... |
OMIM:253280 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Clubbing, Weight loss |
ORPHA:747 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Chronic Thromboembolic Pulmonary Hypertension |
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Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Neoplasm, Increase... |
ORPHA:70591 |
Malignant Atrophic Papulosis |
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Peritonitis, Weight loss |
ORPHA:679 |
Oculopharyngodistal Myopathy 1 |
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Autophagic vacuoles, Facial palsy, Elevated circulating creatine kinase concentration, Weight los... |
OMIM:164310 |
Klatskin Tumor |
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Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy |
ORPHA:99978 |
Viss Syndrome |
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Generalized joint laxity, Hypothyroidism, Joint laxity, Long toe, Arachnodactyly, Scoliosis, Umbi... |
OMIM:619472 |
Osteoporosis-Pseudoglioma Syndrome |
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Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, In... |
OMIM:259770 |
Goodpasture Syndrome |
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Pallor, Increased blood urea nitrogen, Anemia, Weight loss |
OMIM:233450 |
Loeys-Dietz Syndrome 3 |
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Atrial fibrillation, Subarachnoid hemorrhage, Cystocele, Mitral regurgitation, Pulmonic stenosis,... |
OMIM:613795 |
Hereditary Late-Onset Parkinson Disease |
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Hypomimic face, Weight loss |
ORPHA:411602 |
Parkinson Disease 4, Autosomal Dominant |
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Weight loss |
OMIM:605543 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemic pallor, Anemia |
ORPHA:329971 |
Rett Syndrome, Congenital Variant |
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Kyphosis, Simplified gyral pattern, Talipes equinovarus, Scoliosis, Pachygyria |
OMIM:613454 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
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Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... |
OMIM:619557 |
Retinitis Pigmentosa 74 |
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Obesity |
OMIM:616562 |
Orofaciodigital Syndrome Iii |
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Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum |
OMIM:258850 |
Pseudoxanthoma Elasticum, Forme Fruste |
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Kyphosis, Scoliosis |
OMIM:177850 |
Reactive Arthritis |
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Osteomyelitis, Joint stiffness, Weight loss, Enthesitis, Arthritis |
ORPHA:29207 |
Primary Fanconi Renotubular Syndrome |
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Hypouricemia, Osteomalacia, Bicarbonaturia, Weight loss, Increased susceptibility to fractures, H... |
ORPHA:3337 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
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Exaggerated startle response |
OMIM:618367 |
Unilateral Polymicrogyria |
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Abnormal posturing |
ORPHA:268943 |
Alkaptonuria |
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Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill... |
OMIM:203500 |
1P21.3 Microdeletion Syndrome |
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Obesity, Joint hypermobility |
ORPHA:293948 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:91500 |
Tako-Tsubo Cardiomyopathy |
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Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration |
ORPHA:66529 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis, Patent ductus arteriosus |
OMIM:153400 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Shprintzen Omphalocele Syndrome |
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Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Cerebrocostomandibular Syndrome |
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Kyphosis, Multicystic kidney dysplasia, Death in infancy |
ORPHA:1393 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness |
ORPHA:171629 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis |
OMIM:619482 |
Congenital Total Pulmonary Venous Return Anomaly |
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Hepatomegaly, Pallor, Cardiomegaly |
ORPHA:99125 |
Ovarian Hyperstimulation Syndrome |
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Ascites |
OMIM:608115 |