Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar... |
OMIM:618078 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
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 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
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 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Ovarian Dysgenesis 7 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:618117 |
Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased inhibin B level, Decreased serum estrad... |
OMIM:619146 |
Ovarian Dysgenesis 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:619665 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
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 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Ovarian Dysgenesis 5 |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... |
OMIM:617690 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
Premature Ovarian Failure 2A |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:300511 |
46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... |
ORPHA:90796 |
Hydatidiform Mole |
|
Hyperthyroidism, Menometrorrhagia, Enlarged uterus |
ORPHA:99927 |
Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
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 |
Precocious Puberty, Central, 1 |
|
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... |
OMIM:176400 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
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 |
Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Ovarian Dysgenesis 10 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:619834 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... |
OMIM:619528 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... |
ORPHA:99429 |
Spermatogenic Failure 50 |
|
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
Premature Ovarian Failure 20 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:619938 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Premature Ovarian Failure 8 |
|
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... |
OMIM:615723 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... |
OMIM:273250 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis |
OMIM:608805 |
Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Perrault Syndrome 3 |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... |
OMIM:614129 |
Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... |
OMIM:615724 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... |
ORPHA:168563 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... |
OMIM:615300 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... |
OMIM:614324 |
Androgen Insensitivity Syndrome |
|
Inguinal hernia, Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axill... |
OMIM:300068 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... |
OMIM:614837 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... |
OMIM:614842 |
Müllerian Aplasia And Hyperandrogenism |
|
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... |
ORPHA:247768 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... |
ORPHA:1916 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Hypoplastic labi... |
OMIM:618187 |
Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... |
OMIM:615363 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness |
OMIM:166700 |
Premature Ovarian Failure 21 |
|
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... |
OMIM:620311 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... |
OMIM:612965 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Pituitary Adenoma 2, Growth Hormone-Secreting |
|
Pituitary adenoma, Elevated circulating growth hormone concentration |
OMIM:300943 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea |
OMIM:184700 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... |
ORPHA:206484 |
Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology |
ORPHA:2398 |
Premature Ovarian Failure 16 |
|
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... |
OMIM:618723 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... |
ORPHA:90793 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
Hepatic Adenomas, Familial |
|
Polycystic ovaries |
OMIM:142330 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... |
OMIM:202010 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... |
OMIM:240950 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Ovarian Fibrothecoma |
|
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... |
ORPHA:314478 |
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 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... |
OMIM:228300 |
Premature Ovarian Failure 15 |
|
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... |
OMIM:618096 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
46,Xy Sex Reversal 1 |
|
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... |
OMIM:400044 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... |
ORPHA:280356 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genita... |
ORPHA:90791 |
Xp22.3 Microdeletion Syndrome |
|
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries |
ORPHA:1643 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, Abnormality of the epiphyses of the elbow, External genital hypoplasia, Abnorm... |
ORPHA:99330 |
Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Kennedy Disease |
|
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction |
ORPHA:481 |
X-Linked Intellectual Disability, Van Esch Type |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... |
ORPHA:163976 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Generalized joint laxity, Male hypogonadism, Micropenis, Hypogonadotropic hypogonadis... |
ORPHA:432 |
Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... |
OMIM:616185 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... |
ORPHA:261534 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Small hand, ... |
OMIM:300869 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Satoyoshi Syndrome |
|
Abnormal hair morphology, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Sparse or abs... |
ORPHA:3130 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
X-Linked Intellectual Disability, Cilliers Type |
|
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... |
ORPHA:163971 |
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Hypogonadotropic hypogonadism |
OMIM:615269 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... |
ORPHA:79106 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Short toe, Kyphosis, Hyperinsuline... |
ORPHA:3085 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level |
OMIM:311360 |
Mccune-Albright Syndrome |
|
Abnormal femur morphology, Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious pubert... |
ORPHA:562 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Lymphopenia, Proteinuria, Hypoglycemia, Mesangial hypercellularity, ... |
OMIM:617575 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Pituicytoma |
|
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... |
ORPHA:251623 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Hypogonadism, Decreased testicular size |
ORPHA:1875 |
Premature Ovarian Failure 11 |
|
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea |
OMIM:616946 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature... |
ORPHA:90795 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:2229 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasti... |
ORPHA:90794 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... |
ORPHA:3411 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Sparse facial hair, Decreased serum estradiol, Triphalangeal thumb, Aplasia of the ov... |
ORPHA:2232 |
46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Aplasia of the left hemidiaphragm, Urogenital sinus anomaly, Increased serum... |
OMIM:618901 |
Glucocorticoid Resistance, Generalized |
|
Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I... |
OMIM:615962 |
Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... |
OMIM:158330 |
Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair |
ORPHA:85274 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Aromatase Deficiency |
|
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
Rudiger Syndrome |
|
Ovarian cyst, Micropenis, Bicornuate uterus |
OMIM:268650 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Increased circulatin... |
ORPHA:2298 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
Isochromosomy Yq |
|
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... |
OMIM:618987 |
Cortisone Reductase Deficiency 1 |
|
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism |
OMIM:604931 |
Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
Post-Traumatic Pituitary Deficiency |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
ORPHA:95619 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Cryptorchidism, Obesity, Thick eyebrow |
OMIM:309585 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
46,Xy Sex Reversal 5 |
|
Elevated circulating follicle stimulating hormone level |
OMIM:613080 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Polycystic ovaries, Progressive loss of facial adipose tissue, Loss of truncal... |
OMIM:608709 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Familial Cylindromatosis |
|
Telangiectasia of the skin |
ORPHA:211 |
Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships |
OMIM:608631 |
Acromesomelic Dysplasia 3 |
|
Short phalanx of finger, Hypoplasia of the ulna, Elevated circulating luteinizing hormone level, ... |
OMIM:609441 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Short palm, Joint ... |
OMIM:305400 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
Femoral-Facial Syndrome |
|
Short femur, Maternal diabetes, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Abnormal ... |
ORPHA:1988 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
Porokeratosis 2, Palmar, Plantar, And Disseminated Type |
|
Plantar telangiectasia, Palmar telangiectasia |
OMIM:175850 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de... |
ORPHA:970 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Immunodeficiency 19 |
|
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology |
OMIM:615617 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Ost... |
OMIM:610489 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hypertension, Pancreatitis |
ORPHA:79084 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, S... |
ORPHA:1772 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, External genital hypoplasia, Obesity |
OMIM:615983 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Insulin resistance, Obesity, Oligozoospermia, Az... |
OMIM:615703 |
Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea |
OMIM:600705 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea |
ORPHA:2795 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia... |
ORPHA:453533 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Microcytic anemia, Micrognathia, T l... |
ORPHA:2959 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Extensor Tendons Of Finger Anomalies |
|
Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Low anterior hairline, Nephrocalcinosis, Premature graying of hair, Fas... |
ORPHA:769 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Eczema, Hydrocele testis, Slender long bone, Increased serum testosterone l... |
ORPHA:96181 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
46,Xx Sex Reversal 1 |
|
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:400045 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hypogonadotro... |
ORPHA:465508 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Ataxia-Telangiectasia |
|
Lymphopenia, Failure to thrive, Diabetes mellitus, Telangiectasia of the skin, Skeletal muscle at... |
ORPHA:100 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Cervical Cancer |
|
Cervix cancer |
OMIM:603956 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus |
ORPHA:2578 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
Preeclampsia |
|
Increased body mass index, Proteinuria, Abnormality of the kidney, Small for gestational age, Chr... |
ORPHA:275555 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility |
OMIM:617593 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... |
ORPHA:166277 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Rheumatoid factor positive, Elevated circulating C-reactive protein concentrat... |
ORPHA:49041 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... |
ORPHA:243 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona... |
OMIM:618459 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... |
OMIM:300845 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... |
OMIM:110100 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lower limb asymmetry, Hyperostosis, Arthritis, E... |
ORPHA:2485 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Anorexia, Abnormal T cell morphology, Tubulointerstitial... |
ORPHA:330015 |
Ovarian Hyperstimulation Syndrome |
|
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... |
ORPHA:64739 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Impaired social interactions |
OMIM:606053 |
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, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Pyle Disease |
|
Metaphyseal dysplasia, Metaphyseal widening, Hypoplastic frontal sinuses, Reduced bone mineral de... |
OMIM:265900 |
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 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Decreased serum testosterone concentration, Alopecia, Streak ovary, Premature ovarian... |
ORPHA:3464 |
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 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... |
OMIM:619151 |
Methemoglobinemia And Ambiguous Genitalia |
|
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... |
OMIM:250790 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of ... |
ORPHA:1525 |
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 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... |
ORPHA:168558 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... |
OMIM:615513 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... |
ORPHA:289548 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... |
ORPHA:90301 |
Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Cernunnos-Xlf Deficiency |
|
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... |
ORPHA:169079 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Micrognathia, Hyperhidrosis, Abnormal appendicular skeleton morphology, Re... |
ORPHA:813 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Congenital Generalized Lipodystrophy |
|
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Lipodystrophy... |
ORPHA:528 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm... |
OMIM:137920 |
Galactosemia I |
|
Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, A... |
OMIM:230400 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... |
OMIM:615559 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex |
OMIM:174810 |
Frasier Syndrome |
|
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... |
ORPHA:347 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor... |
OMIM:212050 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Hemiverte... |
OMIM:201750 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Peritoneal abscess, B... |
ORPHA:400 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... |
ORPHA:2975 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Joint hyperflexibility, Brachydactyly, Osteoporosis, Short distal phalanx of finger |
ORPHA:2787 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ... |
OMIM:619795 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... |
OMIM:616452 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deviation of finger, ... |
ORPHA:1227 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... |
OMIM:613501 |
Slc35A2-Cdg |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Abnormal long bone mo... |
ORPHA:356961 |
Fraser-Like Syndrome |
|
Ovarian cyst |
OMIM:229230 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Truncal obesity, Hypogonadism, Sparse body hair, Failure to thrive, Decreased tes... |
ORPHA:261483 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... |
ORPHA:572333 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Lipoatrophy, Insulin resistance, Lipodystrophy |
OMIM:613877 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Pes planus, Short metacarpal, Epiphyseal dysplasia, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Clitoral hypoplasia, Cutaneous finger syndactyly, Short palm, Accessory spleen, Elevated circulat... |
OMIM:618419 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Polycystic ovaries |
ORPHA:2228 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Micrognath... |
OMIM:616222 |
Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Leptin Deficiency Or Dysfunction |
|
Obesity, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614962 |
Paget Disease Of Bone 2, Early-Onset |
|
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
48,Xxyy Syndrome |
|
Hypoplasia of penis, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Chronic otitis... |
ORPHA:10 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... |
OMIM:619707 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95513 |
Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Reduced bone mineral density, Leukopenia, Abnormality of... |
ORPHA:84 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... |
OMIM:613500 |
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteopenia, Osteoporosis, Delayed puberty |
OMIM:615271 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, ... |
ORPHA:3044 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:95512 |
48,Xxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Clinodactyly of the 5th finger, Chronic otitis media, Abnorma... |
ORPHA:96263 |
Pparg-Related Familial Partial Lipodystrophy |
|
Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, ... |
ORPHA:79083 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Skeletal muscle atrophy, Premature ovarian insufficiency, Abnormality of the urinary system, Scol... |
ORPHA:101006 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Alopecia, Decreased serum insulin-like growth factor ... |
OMIM:241080 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of penis, Finger syndactyly, Ventricular septal defect, Microg... |
ORPHA:2256 |
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
|
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test |
OMIM:300123 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:607080 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Decreased fertility, Obesity, Low posterior hairline, Hypogonadism, Abnor... |
ORPHA:2233 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Insulin resistance, Congestive hea... |
ORPHA:2348 |
Premature Ovarian Failure 5 |
|
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... |
OMIM:611548 |
Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Micrognathia, Precocious puberty, Small hand, Obesity, Shor... |
ORPHA:254531 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Diabetes mellitus, Obesity, Myocardial infarction |
OMIM:608320 |
Telangiectasia, Hereditary Benign |
|
Diffuse telangiectasia |
OMIM:187260 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Cryptorchidism, Short toe, Kyp... |
OMIM:301900 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Short neck, Small hand, 2-3 toe syndactyly, Poly... |
ORPHA:284180 |
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... |
ORPHA:753 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
OMIM:308750 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
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 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
Bardet-Biedl Syndrome 4 |
|
External genital hypoplasia, Cryptorchidism, Obesity, Renal cyst, Hypogonadism |
OMIM:615982 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ... |
OMIM:617974 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... |
OMIM:102200 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Renal insufficiency, Renal agenesis, External genital hypoplasi... |
OMIM:615993 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... |
OMIM:612526 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Distal Deletion 10P |
|
Hypoplasia of penis, Micrognathia, Joint stiffness, Cryptorchidism, Short neck, Polycystic ovarie... |
ORPHA:1580 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Hypergonadotropic hypogonadism, Secondary amenorrhea, Polycystic ovaries |
OMIM:268020 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity, Finger joint hypermobility |
ORPHA:436141 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Mi... |
OMIM:610628 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Tremor... |
ORPHA:363400 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Decreased fertility, Obesity, Hypogonadism... |
ORPHA:2234 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Dilated cardiomyopathy, Obesity, Hypogonadism |
OMIM:615981 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Hydronephrosis, Se... |
OMIM:154230 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... |
ORPHA:1310 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Coxa valga, Cryptorc... |
OMIM:214150 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Long penis, Hyperinsulinemia, Ovarian cyst, Large ha... |
OMIM:246200 |
Immunodeficiency 75 With Lymphoproliferation |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... |
OMIM:619126 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
Luscan-Lumish Syndrome |
|
Irregular menstruation, Obesity, Polycystic ovaries, Overgrowth, High anterior hairline, Hirsutism |
OMIM:616831 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Lipodystrophy, Abdominal obesity |
OMIM:615980 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome |
|
Vaginal fistula |
ORPHA:2597 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ... |
OMIM:146255 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulde... |
OMIM:274000 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Micrognathia, ... |
ORPHA:3409 |
Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Small scrotum, Hypocalcemia, Short tibia, Micropenis, Decreased circulating IgG level, Patent for... |
OMIM:607143 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defec... |
OMIM:601186 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ... |
ORPHA:65681 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru... |
ORPHA:2141 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... |
ORPHA:249 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, True hermaphroditism, Septate v... |
OMIM:194080 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Micrognathia, Multiple prenatal fractures, Cardiomegaly, Flexion contracture, Micrope... |
OMIM:616897 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Increased body weight, Hepatic ... |
ORPHA:264580 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hyperlordosis, Cryptorchidism, Limitation of joint mobility, Nephrotic syndrome, Hyp... |
ORPHA:1192 |
Narcolepsy Type 1 |
|
Syncope, Obesity |
ORPHA:2073 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity, Joint stiffness |
ORPHA:1078 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Renal malrotation, Sparse scalp hair, Decreased response to growth hormone stimulation test, High... |
OMIM:615866 |
Metatropic Dysplasia |
|
Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal enchondral ossification, Halberd-s... |
ORPHA:2635 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Osteoporosis |
OMIM:615270 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Ulnar deviation of the hand, Hypospadias, Rocker bottom foot, Adrenal hypoplasia, Micrognathia, M... |
OMIM:214100 |
Werner Syndrome |
|
Skeletal muscle atrophy, Myocardial infarction, Abnormal hair whorl, Premature graying of hair, T... |
ORPHA:902 |
Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
Immunodeficiency 68 |
|
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count |
OMIM:612260 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci... |
OMIM:620282 |
Tetragametic Chimerism |
|
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... |
ORPHA:199310 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Osteoarthritis, Gene... |
ORPHA:750 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
Perrault Syndrome 1 |
|
Ataxia, Increased circulating gonadotropin level, Osteoporosis, Gait ataxia, Gonadal dysgenesis |
OMIM:233400 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Single transverse palmar crease... |
OMIM:214110 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, C... |
ORPHA:335 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, External genital hypoplasia, Tapered finger, Cryptorchidi... |
ORPHA:85282 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma,... |
ORPHA:3261 |
Immunodeficiency 61 |
|
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t... |
OMIM:300310 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Sandal gap, Hypoglycemia, Micrognathia, Cryptorchidism, Congestive heart fai... |
ORPHA:2022 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
Capillary Malformation-Arteriovenous Malformation 2 |
|
Telangiectasia |
OMIM:618196 |
Bardet-Biedl Syndrome 1 |
|
Micropenis, Syndactyly, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resist... |
OMIM:209900 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Single transverse palmar crease, Microgna... |
ORPHA:73272 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatic steatosis, Hepatomegaly, Large hands, Umbilical hernia, Acute pancreatitis, Lipodystrophy... |
OMIM:269700 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Dysmenorrhea, Micrognathia, Increased intraabdominal fat... |
ORPHA:280365 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... |
ORPHA:3455 |
Brucellosis |
|
Liver abscess, Rheumatoid factor positive, Bronchitis, Elevated circulating C-reactive protein co... |
ORPHA:1304 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
Myotonic Dystrophy 2 |
|
Tachycardia, Oligozoospermia, Right bundle branch block, Premature ventricular contraction, Hypog... |
OMIM:602668 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Micrognathia, Precocious puberty... |
ORPHA:96184 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormone concentrat... |
OMIM:242900 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Osteopenia, Increased T cell count, Pedal edema, Increased circulating IgG level, Inflammation of... |
ORPHA:98813 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatic steatosis, Hepatomegaly, Clitoral hypertrophy, Cardiomyopathy, Large hands, Umbilical her... |
OMIM:608594 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Clitoral hypoplasia, Premature adrenarche... |
ORPHA:398079 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... |
OMIM:612692 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Cryptorchi... |
OMIM:602471 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatars... |
OMIM:609945 |
Meningioma |
|
Back pain, Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolac... |
ORPHA:2495 |
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteopenia, Hypogonadism, Absence of pubertal development, Osteoporosis |
OMIM:615267 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Hypospadias |
ORPHA:141333 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, Increased... |
ORPHA:79240 |
Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Pes planus, Hyperactivity, Hypospadias, Sandal gap, Aggressive behavior, Cryptorchi... |
OMIM:300354 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Hypertension, Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Hypertension, Abdominal obesity |
OMIM:605572 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Diabetes mellitus, Telangiectasia of the skin, Micrognathia, Cryptorchidism, Insulin resistance, ... |
OMIM:615381 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den... |
OMIM:618392 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... |
ORPHA:91355 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Long toe, Arachnodactyly, Decreased fibular diameter, Long fingers, Fasting hyperinsu... |
OMIM:619489 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypoglycemia, A... |
OMIM:300148 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Decreased circulating parathyr... |
OMIM:241530 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Genu ... |
OMIM:264090 |
Perrault Syndrome 2 |
|
Streak ovary, Amenorrhea |
OMIM:614926 |
Bloom Syndrome |
|
Bronchitis, Micrognathia, Adipose tissue loss, Uveitis, Otitis media, Decreased circulating IgG l... |
ORPHA:125 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Rocker bottom foot, Impulsivity, Tapered finger, Cryptorchidism, In... |
OMIM:615547 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... |
OMIM:235200 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Uterine leiomyoma, Renal cyst |
OMIM:617100 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Perineural Cyst |
|
Dyspareunia, Recurrent urinary tract infections, Urinary incontinence, Inability to walk, Neuroge... |
ORPHA:65250 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Ectopic kidney, Simplified gyral pattern, Dysmetria, Micropenis, Hypothyroidism, Ataxia, Cryptorc... |
OMIM:616541 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Impaired social interactions |
OMIM:611092 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:98793 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Galactokinase Deficiency |
|
Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Small for gestatio... |
ORPHA:79237 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
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 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... |
ORPHA:93351 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Obesity, Low posterior ha... |
ORPHA:2183 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Alopecia of scalp, Hypogonadism, Decreased serum testosterone concentration, Failur... |
OMIM:201100 |
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 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... |
ORPHA:277 |
Cowden Syndrome 1 |
|
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... |
OMIM:158350 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300554 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... |
OMIM:618982 |
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 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Renal cyst, Vaginal atresia |
OMIM:605231 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Hypospadias, Obesity |
OMIM:615985 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... |
OMIM:618108 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Acute pancreat... |
OMIM:151660 |
Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Robinow Syndrome |
|
Small scrotum, External genital hypoplasia, Micrognathia, Hemivertebrae, Clitoral hypoplasia, Web... |
ORPHA:97360 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Hepatomegaly, Ventricular septal defect, Micrognath... |
ORPHA:52 |
Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Ataxia, Bilateral single transverse ... |
ORPHA:2377 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Periventricular nodular heterotopia, Micrognathia, Cryptorchidism, Ulnar ... |
OMIM:619135 |
Renal Hypodysplasia/Aplasia 3 |
|
Multicystic kidney dysplasia, Abnormality of the uterus |
OMIM:617805 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Diabetes mellitus, Hypospadias, Hyperactivity, Cryptorchidism, Short metatarsal... |
OMIM:614613 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Secondary amenorrhea, Central hypothyro... |
OMIM:301033 |
Grant Syndrome |
|
Bowing of the long bones, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abn... |
ORPHA:2097 |
Wilson-Turner Syndrome |
|
Pes planus, Hypogonadotropic hypogonadism, Tapered finger, Micrognathia, Cryptorchidism, Small ha... |
ORPHA:3459 |
Carpenter Syndrome 1 |
|
External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Micrognathia, Cli... |
OMIM:201000 |
Ataxia-Telangiectasia |
|
Sinusitis, Choreoathetosis, T lymphocytopenia, Glucose intolerance, Hypoplasia of the thymus, Dec... |
OMIM:208900 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
22Q11.2 Deletion Syndrome |
|
Impaired T cell function, Micrognathia, Abnormal lung lobation, Hypoplasia of the thymus, Abnorma... |
ORPHA:567 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Impulsivity, Supernumerary nipple, Periventricular heterotopia, Cryptorchidism, Int... |
OMIM:618929 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,... |
OMIM:617006 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Cowden Syndrome 6 |
|
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... |
OMIM:615109 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... |
OMIM:300400 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Small for gestational age, Micrognathia, Insulin-resistant diab... |
OMIM:269880 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Hypospadias, Ventricular septal defect, Craniosynostosis, Micrognathia, A... |
ORPHA:96097 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
OMIM:176270 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the... |
OMIM:619269 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, Micropenis, Penile hypospadia... |
ORPHA:456328 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Neonatal hy... |
ORPHA:90674 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Synophrys, Obesity |
OMIM:300803 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Renal agenesis, Craniosynostosis, Microgna... |
ORPHA:171839 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... |
OMIM:300888 |
Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Hallux valgus, Proteinuria, Arachnodactyly, Eczema, Minimal change g... |
OMIM:618348 |
Atelosteogenesis, Type I |
|
Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia... |
OMIM:108720 |
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... |
OMIM:614839 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Hypospadias, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Abnormal m... |
OMIM:175700 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte prolife... |
ORPHA:99867 |
Orthostatic Hypotension 1 |
|
Reduced circulating prolactin concentration, Neonatal hypoglycemia, Hypomagnesemia, Nocturia, Ret... |
OMIM:223360 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Short femur, Inguinal hernia, Metaphyseal spurs, Unilateral rena... |
OMIM:618188 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormal long bone morphology, Increased circulating IgG level, Abnorm... |
ORPHA:228123 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Abnormal foot morphology, Rickets, Increased susceptibility to... |
OMIM:146300 |
Schimke Immuno-Osseous Dysplasia |
|
Impaired T cell function, Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change g... |
ORPHA:1830 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Male pseudohermaphroditism, Hypothyroidism, Infertility, Female external genitalia in individual ... |
OMIM:264300 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... |
ORPHA:628 |
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 |
Chung-Jansen Syndrome |
|
Impulsivity, Tapered finger, Micrognathia, Cryptorchidism, Aggressive behavior, Obesity, Hip dysp... |
OMIM:617991 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, External genital hypoplasia, Craniosynostosis, Abn... |
ORPHA:65759 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Decreased response to growth hormone stimulation test, Micrognathia, Hyper... |
ORPHA:96182 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Kallmann Syndrome |
|
Hypoplasia of penis, Reduced bone mineral density, Micropenis, Hypogonadotropic hypogonadism, Ata... |
ORPHA:478 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Cowden Syndrome 5 |
|
Hyperthyroidism, Micrognathia, Kyphosis, Thyroiditis, Palmoplantar hyperkeratosis, Hydrocele test... |
OMIM:615108 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoacid... |
ORPHA:534 |
Igg4-Related Kidney Disease |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Lymphadenitis,... |
ORPHA:449395 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Autoimmunity, Acu... |
ORPHA:79086 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Abnormality of the lower limb, Rickets, Osteomalacia |
OMIM:193100 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
3M Syndrome |
|
Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ... |
ORPHA:2616 |
Renal Hypodysplasia/Aplasia 1 |
|
Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T... |
OMIM:611926 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... |
OMIM:617241 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypogonadotropic hypogonadism, External genital hypoplasia, Obesity |
ORPHA:177910 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Flexion contracture, Increased body weigh... |
ORPHA:398069 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Nocturia, El... |
ORPHA:230 |
Gordon Holmes Syndrome |
|
Secondary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhea |
OMIM:212840 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Osteopenia, Cryptorchidism, Osteoporosis, Genu valgum, Micropenis, Decreased testicular size |
OMIM:614880 |
Adiposis Dolorosa |
|
Depression, Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Mesoaxial hand polyd... |
OMIM:615996 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Diabetes mellitus, Small for gestational age, Rhizomelia, Brachydac... |
OMIM:614813 |
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Autoimmune thrombocytopenia, Ab... |
OMIM:102700 |
Cln3 Disease |
|
Ataxia, Left ventricular hypertrophy, Acne, Aggressive behavior, Vacuolated lymphocytes, Increase... |
ORPHA:228346 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity |
ORPHA:363741 |
Classic Galactosemia |
|
Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i... |
ORPHA:79239 |
Bardet-Biedl Syndrome 12 |
|
Hydrometrocolpos, Obesity, Hypogonadism, Vaginal atresia, Cystic renal dysplasia |
OMIM:615989 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Chilblains, I... |
OMIM:619858 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodo... |
ORPHA:79259 |
Leukodystrophy, Hypomyelinating, 24 |
|
Hypothyroidism, B lymphocytopenia |
OMIM:619851 |
Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... |
ORPHA:3041 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Small scrotum, Diabetes mellitus, External genital hypoplasia, Cryptorchidism, Obesit... |
OMIM:614231 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa... |
OMIM:300200 |
Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Increased bone mineral density, Micrognathia |
ORPHA:1237 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Joint laxity, Hypospadias, Glomerulonephritis, Proteinuria, Ataxia, Single transverse palmar crea... |
OMIM:619428 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... |
ORPHA:273 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Micrognathia, Abnormality of the endocrine system, Short toe, ... |
ORPHA:633 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Micrognathia, Flexion contracture, Small hand, Obesity, Emotional lability,... |
OMIM:300055 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Ectopic kidney, Micrognathia, Delayed early-childhood social m... |
ORPHA:881 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Joint hypermobility, Recurrent fractures, Micrognathia, F... |
OMIM:617952 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Micr... |
OMIM:616730 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Leukopenia, Hypoplasia of the thy... |
OMIM:612541 |
Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu v... |
ORPHA:3320 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... |
OMIM:619705 |
Gorham-Stout Disease |
|
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... |
ORPHA:73 |
Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Hypoplasia of penis, Hypothyroidism, Uterus didelphys |
ORPHA:2491 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Craniosynostosis, Congenital hypothyroidism |
ORPHA:88643 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Recurrent hypoglycemia, Hypoalbuminemia, Abnormal bone... |
ORPHA:79324 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, A... |
ORPHA:95494 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 27A |
|
Increased inflammatory response, Hypoplasia of the femoral head, Pneumonia, Anorexia, Rheumatoid ... |
OMIM:209950 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Hypospadias, Decreased response to growth hormone stimulation test, Proximal placem... |
ORPHA:94065 |
Obesity Due To Sim1 Deficiency |
|
Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance, Cognitive i... |
ORPHA:369873 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones of the uppe... |
ORPHA:371428 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Hypoplasia of the ovary, Osteosclerosis of the base of the skull |
OMIM:609993 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone cyst, Genu varum, Osteolysis, Genu v... |
ORPHA:93160 |
Summitt Syndrome |
|
Obesity, Craniosynostosis |
OMIM:272350 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Stage 5 chronic kidney disease, Congeni... |
OMIM:619609 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Cryptorchidism, Unsteady gait, Genu valgum, Irritability,... |
OMIM:617798 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Aplastic anemia, Reduced bone mineral density, Neutropenia, Calcinosis, Hypoplasia of... |
ORPHA:2909 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne... |
ORPHA:2176 |
Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormal salivary gland morphology, Abnormal EKG, Abnormality of... |
ORPHA:85443 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Type II diabetes mellitus, Gout |
OMIM:610947 |
Ck Syndrome |
|
Abnormal cortical bone morphology, Abnormal digit morphology, Joint hypermobility, Micrognathia |
OMIM:300831 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Short metatarsal, Pseudohypoparathyroidism, Osteoporosis, Obesity, E... |
OMIM:103580 |
Caudal Duplication |
|
Abnormal penis morphology, Cryptorchidism, Uterus didelphys |
ORPHA:1756 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Short phalanx of finger, Hypoplastic cervical vertebrae, Broad metacarp... |
ORPHA:56304 |
Cednik Syndrome |
|
Ataxia, Proteinuria, Diffuse palmoplantar hyperkeratosis, Nephrotic syndrome, Hypogonadism, Pachy... |
ORPHA:66631 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Hypogonadism, Type II diabetes mellitus, Abnormal... |
ORPHA:791 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Distal lower limb amyotrophy, Lower limb muscle weakness, Urinary urgency, Upper limb muscle weak... |
OMIM:609195 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Micrognathia, Limitation of joint mobility, Slender long bone, Abnormal hip ... |
ORPHA:1486 |
Immunodeficiency, Common Variable, 6 |
|
Recurrent respiratory infections, Hepatomegaly, Decreased specific pneumococcal antibody level, G... |
OMIM:613496 |
Paternal Uniparental Disomy Of Chromosome X |
|
Short metacarpal, Short neck, Low posterior hairline, Infertility, Micropenis, Decreased testicul... |
ORPHA:261524 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Aplasia of the pectoralis major muscle, Abnormal finger morphology, Abnormal... |
ORPHA:3138 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Skin rash, Elevated circulating C-reactive protein concen... |
OMIM:618048 |
Obesity And Hypopigmentation |
|
Red hair, Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti... |
ORPHA:85450 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism, Obesity |
OMIM:300238 |
Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
19P13.12 Microdeletion Syndrome |
|
Finger syndactyly, Toe clinodactyly, Hyperactivity, Hypospadias, Sandal gap, Craniosynostosis, At... |
ORPHA:254346 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... |
ORPHA:99725 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Williams Syndrome |
|
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... |
ORPHA:904 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
Hand-Foot-Genital Syndrome |
|
Bifid scrotum, Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement... |
OMIM:140000 |
Chromosome 17Q12 Deletion Syndrome |
|
Micrognathia, Renal cyst, Short palm, Long toe, Multicystic kidney dysplasia, Highly arched eyebr... |
OMIM:614527 |
Prader-Willi Syndrome |
|
Osteopenia, Small scrotum, External genital hypoplasia, Decreased response to growth hormone stim... |
ORPHA:739 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Urinary incontinence, Reduced sperm motility, Infertility, Difficulty w... |
ORPHA:320391 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity, Low posterior hairline |
OMIM:300577 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Micrognathia, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the d... |
OMIM:268310 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Autoimmunity, Mesangial hyp... |
ORPHA:329918 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Elevated circulating thyroid-stimulating hormone concentration, Short metatarsa... |
OMIM:612462 |
Proteus Syndrome |
|
Mandibular hyperostosis, Hypertrophy of skin of soles, Calvarial hyperostosis, Facial hyperostosi... |
OMIM:176920 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... |
OMIM:618986 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Ankle swelling, Abnormality of the kidney, Orchitis, Lymphadenit... |
ORPHA:2035 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Spondyloepiphyseal Dysplasia Tarda |
|
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... |
ORPHA:93284 |
7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Micrognathia, Simplified gyral ... |
ORPHA:96121 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki... |
ORPHA:567546 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Ataxia, Large for gestational... |
OMIM:615398 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Cryptorchidism,... |
OMIM:616300 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Splenomegaly, Chronic lymphatic leukemia, Increased circulating ... |
OMIM:616005 |
Alg6-Cdg |
|
Ataxia, Puberty and gonadal disorders, Jaundice, Decreased LDL cholesterol concentration, Shorten... |
ORPHA:79320 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Obesity, Cholestasis,... |
OMIM:616629 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism, Obesity |
OMIM:601794 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, T lymphocytopenia, Narrow greater sciatic notch, Decreased ... |
ORPHA:508533 |
Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadis... |
ORPHA:353298 |
Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... |
ORPHA:1359 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Decreased/absent ankle reflexes, Leukopenia, ... |
ORPHA:443811 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Microretrognathia, Tachycardia, Hypergonadotropic hypogonadism, Retrobulbar optic neuritis, Obesi... |
OMIM:619737 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Proximal placement of thumb, Micrognathia, Cryptorchidism, Small hand, Short foot... |
OMIM:300882 |
Prune Belly Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... |
ORPHA:2970 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Flexion contracture, Renal cyst, Dysmetria, Hypoalbuminemia, Hepatic fibrosis, Hypoch... |
OMIM:212065 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Smith-Magenis Syndrome |
|
Micrognathia, Clinodactyly of the 5th finger, Chronic otitis media, Abnormal repetitive mannerism... |
ORPHA:819 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Micrognathia, Fasting hyperinsulinemia, Reduced bone mineral density, Fin... |
ORPHA:79474 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
Pde4D Haploinsufficiency Syndrome |
|
Micrognathia, Short metatarsal, Elevated circulating parathyroid hormone level, Bilateral coxa va... |
ORPHA:439822 |
Peters-Plus Syndrome |
|
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Hypoplasia of the ut... |
OMIM:261540 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Anti-thyroid peroxidase antibody positivity, Abnormal blood ion concentration, Tubuloin... |
ORPHA:37042 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,... |
ORPHA:958 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Central Precocious Puberty In Male |
|
Acne, Abnormality of the testis size, Pituitary microadenoma, Overgrowth, Abnormality of secondar... |
ORPHA:649929 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculo... |
OMIM:619644 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Obesity |
OMIM:620270 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... |
ORPHA:457083 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma... |
OMIM:256300 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi... |
OMIM:619375 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... |
ORPHA:91354 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased proportion of class-switched memory B cells, Decreased... |
OMIM:618944 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Generalized joint laxity, Genu varum, Patellar hypoplasia, Short femoral ne... |
OMIM:609325 |
Whipple Disease |
|
Myositis, Anorexia, Pedal edema, Uveitis, Hypothyroidism, Infectious encephalitis, Hyponatremia, ... |
ORPHA:3452 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Acne, Frontal balding, Preco... |
ORPHA:786 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating luteinizing hormone level, Congestive... |
OMIM:617253 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Micrognathia, Coxa valga, Flat acetabular roof, Flattened epiphys... |
ORPHA:163649 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Micrognathia, Sparse eyebrow, Cryptorchidism, Hypoplastic labia minor... |
ORPHA:495875 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, En... |
OMIM:208230 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Burkitt Lymphoma |
|
Abnormality of the ovary |
ORPHA:543 |
Postinfectious Vasculitis |
|
Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Anorexia, Gast... |
ORPHA:48435 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteopenia, Hepatomegaly, Proteinuria, Hypoglycemia, Abnormality of the kidney, Hepatocellular ca... |
ORPHA:369 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Micrognathia, Small hand, Obesity, Short foot, Compul... |
ORPHA:444002 |
Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
External genital hypoplasia, Single transverse palmar crease, Micrognathia, Large for gestational... |
ORPHA:96334 |
Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Micrognathia, Short neck, Clitoral hypoplasia, Clinodactyly of ... |
ORPHA:709 |
Wagr Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Displacement of the urethral meatus, Obesity |
ORPHA:893 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity, Impulsivity, Micrognathia, Aggressive behavior, Cryptorchidism, Pachygyria, Polymi... |
OMIM:604317 |
Galloway-Mowat Syndrome 6 |
|
Proteinuria, Decreased response to growth hormone stimulation test, Abnormal repetitive mannerism... |
OMIM:618347 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Aicardi-Goutieres Syndrome 9 |
|
Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hypothyroidism, Self-mutilation, Hepatic steatosis... |
OMIM:619487 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Streak ovary, Hypergonadotropic hypogonadism |
OMIM:241090 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Abnormal fallopian tube morphology, Prostate cancer, Ovarian neoplasm |
ORPHA:145 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gestat... |
ORPHA:324575 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Immunodeficiency 43 |
|
Decreased circulating IgG level, Hypoplasia of the ulna, Recurrent respiratory infections, Radial... |
OMIM:241600 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... |
OMIM:619313 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Interstitial Cystitis |
|
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... |
ORPHA:37202 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Smith-Magenis Syndrome |
|
Pes planus, Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal... |
OMIM:182290 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Increased circulating IgE ... |
OMIM:304790 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormal hair pattern, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, L... |
ORPHA:1770 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Impulsivity, Tapered finger, Cryptorchidism, Generalized joint laxity, Recurrent upper respirator... |
ORPHA:589905 |
Pallister-Hall Syndrome |
|
Small scrotum, Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin defici... |
ORPHA:672 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le... |
OMIM:300009 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi... |
OMIM:210710 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders,... |
ORPHA:85293 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Gait disturbance, Decreased circulating antibody level |
ORPHA:2572 |
Complement Component 3 Deficiency, Autosomal Recessive |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneumonia, Recurrent ton... |
OMIM:613779 |
Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, Clinodactyly of th... |
OMIM:210600 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Hypoglycemic seizures, Truncal obesity, Neona... |
ORPHA:293964 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Cryptorchidism, Abnormality o... |
OMIM:300957 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity |
ORPHA:1742 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Hyperactivity, Small for gestational age, Eczema, Decreased palmar creases, Micr... |
ORPHA:352490 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Decreased re... |
ORPHA:1263 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Autoimmune Hepatitis |
|
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... |
ORPHA:2137 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Micromelia, Limitation of joint mobility, Lateral humeral condyle aplasi... |
ORPHA:2741 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Osteoporosis, Depression, In... |
ORPHA:189427 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight... |
ORPHA:486815 |
Moyamoya Disease |
|
Telangiectasia |
ORPHA:2573 |
Digeorge Syndrome |
|
Impaired T cell function, Micrognathia, Parathyroid hypoplasia, Abnormal thymus morphology, Hypop... |
OMIM:188400 |
Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Tapered finger, Stage 5 ... |
OMIM:617730 |
Cach Syndrome |
|
Premature ovarian insufficiency, T2 hypointense thalamus, Flexion contracture, Renal hypoplasia, ... |
ORPHA:135 |
Familial Multiple Lipomatosis |
|
Overgrowth, Insulin resistance, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Recurrent fractures, Osteopetrosis |
OMIM:611490 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Aplasia of the bladder, Hypoplasia of the ulna, Sp... |
OMIM:200980 |
Bardet-Biedl Syndrome |
|
Medial flaring of the eyebrow, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism,... |
ORPHA:110 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Rhizomelia,... |
OMIM:614376 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplas... |
OMIM:181450 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
|
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
Charge Syndrome |
|
External genital hypoplasia, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:214800 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Clitoral hypertrophy |
OMIM:264270 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia |
ORPHA:217390 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:603909 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia, Early ossification of capital femoral epiphyses, Renal cyst, Hepat... |
OMIM:208500 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility, Reduced circulating prolactin concentration |
OMIM:264110 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Cryptorchidism, Obesity, Nephrocalcinosi... |
OMIM:615633 |
Coxoauricular Syndrome |
|
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... |
ORPHA:1508 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Osteoporosis, Elbo... |
OMIM:259450 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Congenital diaphragmatic hernia, Ovotestis, Junctional ectopic tachycardia, Hypoplas... |
OMIM:309801 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, De... |
ORPHA:169154 |
11P15.4 Microduplication Syndrome |
|
Synophrys, Obesity, Highly arched eyebrow |
ORPHA:300305 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Limited hip extension, Rhizomelia, Short femur, Bowing of the legs,... |
OMIM:100800 |
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome |
|
Joint laxity, Arachnodactyly, Glomerulonephritis, Chronic kidney disease, Disproportionate tall s... |
ORPHA:2172 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Eczema, Abnormality of the endocrine system, Cryptorchidism, Renal hypop... |
ORPHA:464288 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Idiopathic Hypercalciuria |
|
Osteopenia, Osteoporosis |
ORPHA:2197 |
Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Coxa valga, Hip dislocation, O... |
ORPHA:2484 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Supern... |
OMIM:263750 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Hyperhidrosis, Pancr... |
ORPHA:276608 |
Leprechaunism |
|
Skeletal muscle atrophy, Nephrocalcinosis, Increased circulating renin level, Recurrent infantile... |
ORPHA:508 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abnormality of the ureter, Clubbing, Ovarian cyst, Iron deficiency anem... |
OMIM:175200 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating cortisol level, Ketotic hypoglycemia, Renal salt wasting, Hypoglycemic seiz... |
ORPHA:361 |
Clark-Baraitser syndrome |
|
Joint laxity, Genu recurvatum, Tapered finger, Obesity, Broad palm, Genu valgum, Short palm, Macr... |
OMIM:300602 |
Congenital Myopathy 9A |
|
Cryptorchidism, Obesity |
OMIM:618822 |
Gangliocytoma |
|
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... |
ORPHA:251937 |
Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Abnormality of bone mineral density |
ORPHA:1114 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Hyperactivity, Ventricular septal defect, Unilateral renal agenesis, Aggressive behavior, Precoci... |
ORPHA:3306 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
Wagro Syndrome |
|
Proteinuria, Nephroblastoma, Micrognathia, Aggressive behavior, Obesity, Agitation, Low frustrati... |
OMIM:612469 |
Camptobrachydactyly |
|
Camptodactyly of finger, Septate vagina |
ORPHA:1319 |
Prolactinoma |
|
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... |
ORPHA:2965 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Single transverse palmar crease, Overweigh... |
ORPHA:457240 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Postnatal g... |
OMIM:618160 |
Morm Syndrome |
|
Truncal obesity, Micropenis |
ORPHA:75858 |
Immunodeficiency 50 |
|
Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Omodysplasia 2 |
|
Micrognathia, Clitoral hypoplasia, Limited elbow flexion, Clinodactyly of the 5th finger, Micrope... |
OMIM:164745 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Arachnodactyly, Minimal change glomerulonephritis, Micrognathia, Stage 5 chronic kid... |
OMIM:301006 |
Megalencephaly |
|
Short neck, Long penis, Genu valgum, Truncal obesity, Macroorchidism |
ORPHA:2477 |
Brachydactyly Type A1 |
|
Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl... |
ORPHA:93388 |
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Osteoporosis, Micropenis, Clinodactyly, Decreased testicular size |
OMIM:614838 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
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 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Skeletal muscle atrophy, Abnormal mitochondrial shape, Hypospadias, Short femur, H... |
ORPHA:17 |
Systemic Lupus Erythematosus 16 |
|
Lupus nephritis, Antinuclear antibody positivity, Systemic lupus erythematosus, Decreased circula... |
OMIM:614420 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce... |
OMIM:301078 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity |
OMIM:616756 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Pulmona... |
ORPHA:567548 |
Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Small scrotum, Tapered finger, Cryptorchidism, Short toe, Joint hyperflexibi... |
ORPHA:127 |
Atkin-Flaitz Syndrome |
|
Macroorchidism, Obesity |
ORPHA:1193 |
Immunodeficiency, Common Variable, 14 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... |
OMIM:617765 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Genu recurvatum, Lower limb asymmetry, Splenomegaly, Abnormality of the parat... |
ORPHA:2969 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Alopecia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis... |
OMIM:615830 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Bicuspid aortic valve, Anemia of inadequate production, Absent thumb, Uni... |
OMIM:614900 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... |
OMIM:203800 |
Uv-Sensitive Syndrome 3 |
|
Telangiectasia |
OMIM:614640 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Increased circula... |
OMIM:602450 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Cryptorchidism, Short toe, Obesity, Widely spaced toes, Proportionate tall s... |
ORPHA:404443 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Macrocephaly/Autism Syndrome |
|
Joint laxity, Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, D... |
OMIM:605309 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Osteomalacia, Joint stiffness, Micrognathia, Coxa valga, Avascular necrosis of the ca... |
ORPHA:1901 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn... |
OMIM:224300 |
Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Metaphyseal widening, Aminoaciduria, Renal Fanconi syndrome, Low-molec... |
OMIM:219800 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism,... |
ORPHA:412035 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Donnai-Barrow Syndrome |
|
Widow's peak, Bicornuate uterus, Abnormality of the uterus |
ORPHA:2143 |
Osteogenesis Imperfecta, Type Xxi |
|
Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Pes val... |
OMIM:619131 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Atrial septal defect, Hepatomegaly, Ulnar deviation of the hand, Bowed humerus, Ulnar... |
OMIM:620076 |
Frasier Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca... |
OMIM:136680 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Hypoplasia of penis, Small scrotum, Abnormal dental enamel morp... |
ORPHA:861 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Mental Retardation Syndrome, Mietens-Weber Type |
|
Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis... |
OMIM:249600 |
Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... |
OMIM:601859 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... |
ORPHA:331206 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Metaphyseal scl... |
ORPHA:2905 |
Mccune-Albright Syndrome |
|
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... |
OMIM:174800 |
H Syndrome |
|
Microcytic anemia, Hernia, Micropenis, Psoriasiform dermatitis, Abnormality of the kidney, Recurr... |
ORPHA:168569 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Ulnar deviation of the hand, Proteinuria, Ankle swelling, Congen... |
OMIM:166300 |
Simple Cryoglobulinemia |
|
Rheumatoid factor positive, Monoclonal elevation of circulating IgA, Mesangial hypercellularity, ... |
ORPHA:91139 |
Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Radial bowing, Bowing of the long bones, Talipes, Micromelia, Micrognathia, ... |
ORPHA:2879 |
Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Dysmenorrhea, Micrognathia, Sparse eyebrow, Early balding, Nephrolith... |
ORPHA:2067 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Craniosynostosis, Abn... |
ORPHA:251004 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kina... |
OMIM:613327 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wi... |
OMIM:613091 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Bowing of the legs |
OMIM:615605 |
Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,... |
OMIM:112910 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Lymphadenopathy, Decreased circulating antibody level, Increased circulating IgM le... |
ORPHA:397596 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst |
ORPHA:454840 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, C... |
OMIM:616817 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Hydrocele testis, Multiple lipomas, Overgrowth, Ovarian serous cystadenoma |
ORPHA:276280 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, External genital hypoplasia, Obesity |
OMIM:600151 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Cone-shaped epiphysis, Osteoporosis |
ORPHA:71267 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Wrist swelling, Bicarbonaturia, Aminoaciduria... |
OMIM:309000 |
Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... |
OMIM:619217 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Alopecia, Abnormality of the kidney, Raynaud phenomenon... |
ORPHA:90291 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Renal agenesis, Micrognathia, Ectopic kidney, H... |
OMIM:212780 |
Coffin-Siris Syndrome 8 |
|
Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, Self-injurious behav... |
OMIM:618362 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, P... |
ORPHA:90790 |
Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... |
OMIM:613913 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinem... |
ORPHA:276580 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Obesity, Knee ... |
OMIM:618395 |
Joubert Syndrome 37 |
|
Decreased testicular size, Hepatomegaly, Postaxial polydactyly, Cryptorchidism, Obesity, Micropen... |
OMIM:619185 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Small hand, Narrow palm, Decreased circulating antibody lev... |
ORPHA:1445 |
Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Micrognathia, Femoral bowing, Knee flexion contracture, Tibial b... |
OMIM:601559 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l... |
OMIM:612089 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone con... |
OMIM:608747 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Rheumatoid factor positive, Glomerulonephritis, Nodular pattern on pulmonary HRCT, ... |
ORPHA:99931 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Lymphaden... |
ORPHA:911 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:617885 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
X-Linked Acrogigantism |
|
Increased body mass index, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level,... |
ORPHA:300373 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurrent pneumonia, Coxa va... |
OMIM:602271 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Immunodeficiency 95 |
|
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... |
OMIM:619773 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
Van Bogaert-Hozay Syndrome |
|
Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia |
OMIM:277150 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Enuresis, Self-injurious behavior, Co... |
OMIM:613670 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, ... |
OMIM:276820 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Midshaft hypospa... |
ORPHA:2863 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Genu recurvatum, Acute rhabdomyoly... |
OMIM:604168 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Encephalocele, Periventricular nodular heterotopia... |
OMIM:603671 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Atrial septal defect, Wrist ... |
OMIM:268300 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyph... |
ORPHA:2976 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... |
OMIM:614069 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wris... |
OMIM:259600 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Hyperglycemia, Irregular menstruation, Obesity |
OMIM:615986 |
Diffuse Neonatal Hemangiomatosis |
|
Abnormal vagina morphology |
ORPHA:2123 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Bowing of the legs |
ORPHA:89937 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... |
ORPHA:656 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypogonadotropic hypogonadism, Broad hallux, Overlapping toe, Microcytic anemia, Micrognathia, Cr... |
ORPHA:293967 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... |
OMIM:613502 |
Camptobrachydactyly |
|
Congenital finger flexion contractures, Septate vagina |
OMIM:114150 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Mirage Syndrome |
|
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Microphallus, Aspiration pneumonia, Hypo... |
OMIM:617053 |
46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai... |
OMIM:615816 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Short metatarsal, Osteoporosis, Pseudohypoparathyroidism, Brachydactyly |
OMIM:612463 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:247585 |
Fanconi Anemia, Complementation Group O |
|
External genital hypoplasia, Proximal placement of thumb, Absent thumb, Cryptorchidism, Short thu... |
OMIM:613390 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Septate vagina, Micrognathia, Postaxial polydactyly, Complete atrioventricula... |
OMIM:617925 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Polydipsia, Polyuria, Mesoaxial hand polydactyly,... |
OMIM:615994 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Female infertility, Goiter |
OMIM:617577 |
Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology |
ORPHA:722 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Coxa vara, Short femoral n... |
ORPHA:2848 |
Laurence-Moon Syndrome |
|
Micropenis, Small scrotum, Obesity |
OMIM:245800 |
Free Sialic Acid Storage Disease |
|
Recurrent respiratory infections, Hepatomegaly, Proteinuria, Failure to thrive in infancy, Ataxia... |
ORPHA:834 |
C1Q Deficiency 1 |
|
Membranoproliferative glomerulonephritis, Autoimmunity, Decreased circulating complement factor I... |
OMIM:613652 |
Ulnar Hypoplasia With Mental Retardation |
|
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement |
OMIM:276821 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:301081 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Arachnodactyly, Micrognathia, Hip dislocation, Stage 5 ... |
OMIM:617729 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Ectopic ossification, Elevated circulating parathyroid hormo... |
ORPHA:79445 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Arrhythmia, Premature ovarian insufficiency |
ORPHA:2928 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad... |
ORPHA:2249 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Tarsal syno... |
ORPHA:1307 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H... |
OMIM:232700 |
Beaulieu-Boycott-Innes Syndrome |
|
High anterior hairline, Premature ovarian insufficiency, Endometriosis |
OMIM:613680 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal hair whorl, Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
49,Xxxxy Syndrome |
|
Hypoplasia of penis, Small scrotum, Pulmonary embolism, Short neck, Chronic otitis media, Clinoda... |
ORPHA:96264 |
Fanconi Anemia, Complementation Group F |
|
Atrial septal defect, Failure to thrive, Decreased response to growth hormone stimulation test, P... |
OMIM:603467 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Abnormal renal glomerulus morphology, Renal insufficiency, M... |
OMIM:137940 |
2Q23.1 Microdeletion Syndrome |
|
Hypoplasia of penis, Hyperactivity, Sandal gap, Ataxia, Cryptorchidism, Polyphagia, Self-injuriou... |
ORPHA:228402 |
Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Restlessness, Stiff neck, Ataxia, Pneumonia, Sinusitis, Respiratory tract in... |
ORPHA:68 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Clinodactyly of the 5th finger, Nephropathy, Proteinuria, Gait disturbance |
ORPHA:2820 |
Majeed Syndrome |
|
Flexion contracture, Glomerulopathy, Increased bone mineral density, Hepatomegaly, Acne, Congenit... |
ORPHA:77297 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... |
OMIM:607323 |
Renal Hypoplasia, Bilateral |
|
Failure to thrive, Proteinuria, Small for gestational age, Cryptorchidism, Chronic kidney disease... |
ORPHA:97362 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, External genital hypoplasia, Decreased response to growth hormone ... |
ORPHA:177907 |
Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Ectopic kidney, Micrognathia, Proximal placement of ... |
OMIM:122470 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Large for gestational age, Episodic hyperhidrosis, Hyperinsulinemia, Hypoglycemic se... |
ORPHA:276575 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ... |
OMIM:251450 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Myositis, Rheumatoid factor positive, Elevated circulating C-reactive protein concentration, Leuk... |
OMIM:615934 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bon... |
OMIM:256550 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Osteoporosis, P... |
OMIM:602152 |
Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Precocious puberty, Acromicria, Small hand, Obesity, Abnormal heart morphology, Sho... |
ORPHA:254525 |
Cerebral Cavernous Malformations 2 |
|
Cerebral hemorrhage, Telangiectasia |
OMIM:603284 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Mucopolysaccharidosis-Plus Syndrome |
|
Metaphyseal widening, Flexion contracture, Leukopenia, Hypoalbuminemia, Macrovesicular hepatic st... |
OMIM:617303 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Pes planus, Hypospadias, Inguinal hernia, Small ... |
OMIM:123450 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Micrognathia, Flexion contracture, Hyperglycemia, Calcinosis, Hepatomegaly, Short cla... |
OMIM:248370 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c... |
ORPHA:93320 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... |
OMIM:152700 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
Ohdo Syndrome |
|
Joint laxity, Small scrotum, Proteinuria, Micrognathia, Sparse eyebrow, Cryptorchidism, Abnormal ... |
OMIM:249620 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia |
ORPHA:357175 |
Smith-Kingsmore Syndrome |
|
Curly hair, Rhizomelia, Hypoglycemia, Diastasis recti, Large for gestational age, Short proximal ... |
OMIM:616638 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Obesity, Hypertension, Abdominal obesity, Glucose ... |
OMIM:219090 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Pes planus, Hip contracture, Inguinal hernia, Micrognathia, Coxa valga, Advanc... |
OMIM:618363 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Single transverse palmar crease, Micrognathia, Hypospadias, Rhizomelia, Hemolytic-ure... |
OMIM:611209 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Pes planus, Hypospadias, Proximal placement of thumb, Micrognathia, Tapered... |
ORPHA:251071 |
Gaucher Disease Type 1 |
|
Osteopenia, Anorexia, Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatom... |
ORPHA:77259 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Pineal cyst, Enuresis nocturna, Short 4th ... |
OMIM:615873 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Microgn... |
OMIM:251300 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Tarsal synostosis, Renal hyp... |
ORPHA:2473 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Osteoporosis, Rickets |
OMIM:560000 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Hypoplasia of the ulna, Clinodactyly, Decreased body weight, Micrognathia |
OMIM:615162 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Premature ovarian insufficiency, Obesity |
OMIM:618124 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive, Recurrent urina... |
OMIM:618495 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Foot joint contracture, Scarring, Ataxia, Cryptor... |
ORPHA:90321 |
Wiskott-Aldrich Syndrome 2 |
|
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... |
OMIM:614493 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Proteinuria, Elevated circ... |
OMIM:607426 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Large for gestational age, Reactive hypoglycemia, Episodic hyperhidrosis, Hypoglycem... |
ORPHA:276556 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Talipes, Single ... |
OMIM:227270 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Congenital hip dislocation, Single transverse palmar... |
ORPHA:508488 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Renal hypoplasia, B... |
OMIM:611555 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Ataxia, Eczema, Stomatitis, Osteoporosis, Thyroiditis, Rickets, Depression, St... |
OMIM:212750 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Hernia, Vesicoureteral reflux, Chronic ot... |
ORPHA:261494 |
Nephrotic Syndrome, Type 10 |
|
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... |
OMIM:615861 |
Mckusick-Kaufman Syndrome |
|
Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Polycystic kid... |
OMIM:236700 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Antinuclear an... |
OMIM:616414 |
Tetrasomy 9P |
|
Myositis, Micrognathia, Biliary atresia, Inappropriate behavior, Clinodactyly of the 5th finger, ... |
ORPHA:3310 |
Down Syndrome |
|
Joint laxity, Sandal gap, Bilateral single transverse palmar creases, Renal hypoplasia/aplasia, A... |
ORPHA:870 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Hypospadias, Proximal placement of thumb, Shor... |
ORPHA:2438 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... |
OMIM:606367 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Fg Syndrome Type 1 |
|
Single transverse palmar crease, Micrognathia, Generalized joint laxity, Compulsive behaviors, At... |
ORPHA:93932 |
Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Atrial septal defect, Abnormal repetitive manneris... |
OMIM:194190 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Distal Deletion 12Q |
|
Single transverse palmar crease, Ectopic kidney, Micrognathia, Biliary atresia, Proportionate tal... |
ORPHA:96149 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Failure to thrive in infancy, Micrognathia, Tapere... |
ORPHA:193 |
Ulnar Hypoplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... |
OMIM:191440 |
Waardenburg Syndrome, Type 1 |
|
White eyelashes, White eyebrow, Synophrys, Premature graying of hair, Aplasia of the vagina, Whit... |
OMIM:193500 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Micrognathia, Abnormal lung lobation, Renal cyst, Nephrocalcinosis, Atrial septal def... |
ORPHA:369837 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Single transverse palmar crease, Adrenal hypoplasia, Micrognathia, Morgagni diaphragm... |
OMIM:613177 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Otitis media, Vesicoureteral reflux, Atrial septal d... |
ORPHA:353281 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis |
ORPHA:69063 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
Bruck Syndrome |
|
Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Talipes equinovarus... |
ORPHA:2771 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Limitation of movement at ankles, Leukocytosis, Absent patellar reflexes, Abnormality of the calf... |
ORPHA:206594 |
Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Hypospadias, Single transverse palmar crease, Aggressive behavi... |
OMIM:610253 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly, Recurrent aspiration pneumonia |
OMIM:300484 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat... |
ORPHA:363528 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormality of joint mobility, Abnormal pituitary gland morphology, Abnormal hypot... |
ORPHA:314621 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers... |
ORPHA:358 |
Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility... |
ORPHA:244 |
Cushing Disease |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weight, Pedal edema, Re... |
ORPHA:96253 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t... |
OMIM:226980 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... |
ORPHA:225 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Claw hand deformity, Elevated circulating creatine kinase concentration, Stage 5 chr... |
OMIM:614455 |
Nephrotic Syndrome, Type 15 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... |
OMIM:617609 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... |
ORPHA:2237 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Hemolytic... |
ORPHA:2968 |
Omodysplasia 1 |
|
Short humerus, Atrial septal defect, Rhizomelia, Increased fibular diameter, Ventricular septal d... |
OMIM:258315 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short neck, Cryptorchid... |
OMIM:616145 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Bardet-Biedl Syndrome 20 |
|
Proteinuria, Hypercholesterolemia, Postaxial polydactyly, Bilateral cryptorchidism, Postaxial han... |
OMIM:619471 |
46,Xy Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ... |
ORPHA:325345 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Hyperactivity, Restlessness, Ataxia, Ventricular septal defect, Abnormality of the ha... |
ORPHA:369891 |
Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax... |
OMIM:619879 |
19P13.3 Microduplication Syndrome |
|
Hyperactivity, Unilateral cryptorchidism, Ventricular septal defect, Micrognathia, Precocious pub... |
ORPHA:447980 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Genu recurvatum, Limited hip extension, Flexion contracture, Tibial bowing, Knee dislocation, Sho... |
OMIM:143095 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Femoral hernia, Inguinal hernia, Failure to thrive, Cry... |
ORPHA:96147 |
Microphthalmia, Isolated 4 |
|
Absent testis, Postaxial polydactyly |
OMIM:613094 |
Pachydermoperiostosis |
|
Osteomyelitis, Elevated circulating growth hormone concentration, Limitation of joint mobility, O... |
ORPHA:2796 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Decreased circulating IgG level, Endocardial fibrosis, Absence of lymph... |
OMIM:235550 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn... |
ORPHA:246 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Abnormality of the spleen, Panhypopituitari... |
ORPHA:2162 |
Dystonia 30 |
|
Impulsivity, Aggressive behavior, Compulsive behaviors, Hypothalamic hamartoma, Loss of ambulation |
OMIM:619291 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Abnormal circulating ceruloplasmi... |
OMIM:620306 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Stiff neck, Overriding aorta, Ventricular septal defect, Micrognathia, Cardiomegaly,... |
OMIM:617022 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Hypoglycemia, J... |
ORPHA:137675 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Micrognathia, Flexion contracture, Talipes calcaneovarus, Low frustration tolerance, Micropenis, ... |
OMIM:300534 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
3-5 toe syndactyly, Clinodactyly of the 5th finger, Vesicoureteral reflux, Pelvic kidney, Spina b... |
OMIM:300707 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th... |
OMIM:218600 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Abnormal r... |
ORPHA:213 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Increased c... |
ORPHA:99827 |
Meacham Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Cryptorchidism, Hydrometrocolpos, Abnormal ... |
ORPHA:3097 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Flexion contracture of finger, Bowing of the long bones, Recurrent fractures, Camptod... |
ORPHA:3206 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:604292 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... |
OMIM:618394 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract... |
ORPHA:3103 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Hypothyroidism, Abnormal m... |
ORPHA:550 |
Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Absent metacarpal... |
OMIM:610797 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Metaphyseal widening, Flexion contracture, Short long ... |
OMIM:263210 |
Cockayne Syndrome A |
|
Ivory epiphyses of the phalanges of the hand, Square pelvis bone, Hypoplastic iliac wing, Micrope... |
OMIM:216400 |
Monosomy 13Q34 |
|
Pes planus, Metrorrhagia, Epistaxis, Micrognathia, Fetal pyelectasis, Postaxial hand polydactyly,... |
ORPHA:96168 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Primar... |
ORPHA:97279 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Hyperactivity, Atrial septal defect, Arach... |
OMIM:309520 |
Von Hippel-Lindau Disease |
|
Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Papillary... |
ORPHA:892 |
Smith-Lemli-Opitz Syndrome |
|
Bifid scrotum, Small scrotum, Micromelia, Micrognathia, Proximal placement of thumb, 2-3 toe cuta... |
OMIM:270400 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Craniosynostosis, Forearm undergrowth, Renal dysplasia, Lower limb undergrowth |
OMIM:218650 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Micrognathia, Short neck, Cryptorchidism, Pancreatic lymphangiectasis, Abnormal renal morphology,... |
ORPHA:1655 |
Nail-Patella Syndrome |
|
Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Hypoplasia of first ribs, Iliac ho... |
OMIM:161200 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis... |
OMIM:314300 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Cog4-Cdg |
|
Failure to thrive in infancy, Ataxia, Recurrent upper respiratory tract infections, Hepatosplenom... |
ORPHA:263501 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... |
OMIM:249700 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... |
ORPHA:45452 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Cryptorchidism, Flexion contract... |
ORPHA:500055 |
Proteus Syndrome |
|
Neoplasm of the thymus, Abnormal finger morphology, Abnormal lung lobation, Renal cyst, Clinodact... |
ORPHA:744 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Summitt Syndrome |
|
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity |
ORPHA:3210 |
Martin-Probst Syndrome |
|
Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Micrognathia, Cryptorchidism, Tela... |
OMIM:300519 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615966 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Synophrys, Low posterior hairline, Truncal obesity, Thick eyebrow |
ORPHA:2429 |
Rafiq Syndrome |
|
Joint laxity, Ataxia, Flexion contracture, Obesity, Truncal obesity, Joint hypermobility |
OMIM:614202 |
Ulnar Hypoplasia-Split Foot Syndrome |
|
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna |
ORPHA:1122 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism, Elevated circ... |
OMIM:613724 |
Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis... |
OMIM:300942 |
Complement Component 4A Deficiency |
|
Systemic lupus erythematosus, Glomerulonephritis, Reduced hemolytic complement activity, Decrease... |
OMIM:614380 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De... |
OMIM:193670 |
Acro-Renal-Ocular Syndrome |
|
Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna, Finger syndactyly, Broad hall... |
ORPHA:959 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia |
OMIM:615214 |
Camurati-Engelmann Disease |
|
Anorexia, Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Leuk... |
ORPHA:1328 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Leukopenia, Decreased circulating complement C4 concentration, Lupus anticoagulant, Nep... |
ORPHA:93552 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... |
ORPHA:276 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Cryptorchid... |
ORPHA:404440 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Orofaciodigital Syndrome I |
|
Microretrognathia, Syndactyly, Dry hair, Alopecia, Proteinuria, Pancreatic cysts, Ovarian cyst, S... |
OMIM:311200 |
Dent Disease |
|
Enlarged epiphyses, Elevated circulating creatine kinase concentration, Bowing of the legs, Delay... |
ORPHA:1652 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Syndromic Diarrhea |
|
Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus, Hepatic fibro... |
ORPHA:84064 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati... |
ORPHA:263455 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
Analbuminemia |
|
Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles... |
OMIM:616000 |
Adnp Syndrome |
|
Urinary incontinence, Single transverse palmar crease, Oral-pharyngeal dysphagia, Abnormal finger... |
ORPHA:404448 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Micrognathia, Asplenia, Abnormal lung lobation, Finger clinodact... |
ORPHA:99776 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:609053 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Pancytopenia, Renal agenesis, Hypergonadotropic h... |
OMIM:227650 |
Lenz-Majewski Hyperostotic Dwarfism |
|
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... |
ORPHA:2658 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Arachnodactyly, Ventricular septal defect, Aggressive behavior, Cryptorchidism, Dis... |
OMIM:301039 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... |
OMIM:620210 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micrognathia, Missing ribs, Cryptorc... |
ORPHA:3301 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, P... |
ORPHA:97289 |
Nail-Patella Syndrome |
|
Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Talipes calcaneovalgus... |
ORPHA:2614 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Renal tubular dys... |
OMIM:614886 |
Lujan-Fryns Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Micrognathia, Joint hyperflexibility, Disproportionate t... |
ORPHA:776 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A... |
ORPHA:2378 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Micrognathia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulo... |
OMIM:619525 |
Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Decreased circulating complement factor B concentration, Abnormality of complement s... |
ORPHA:2134 |
Hutchinson-Gilford Progeria Syndrome |
|
Micrognathia, Osteoarthritis, Reduced bone mineral density, Limitation of movement at ankles, Abn... |
ORPHA:740 |
Mietens Syndrome |
|
Hypoplasia of the ulna, Talipes, Coxa valga, Metatarsus adductus, Avascular necrosis of the capit... |
ORPHA:2557 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Nephrotic s... |
OMIM:618999 |
Microtriplication 11Q24.1 |
|
Metatarsus adductus, Hyperlipidemia, Limitation of joint mobility, Small hand, Obesity, Genu valg... |
ORPHA:289522 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Ambiguous genitalia, female, Bicornuate uterus |
OMIM:606408 |
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... |
OMIM:612702 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Proteinuria, Camptodactyly of finger, Cachexia, Micrognathia, Wrist swelling, Limitation of joint... |
ORPHA:2774 |
Camurati-Engelmann Disease |
|
Waddling gait, Increased bone mineral density, Diaphyseal sclerosis, Cortical thickening of long ... |
OMIM:131300 |
Chromosome 10Q26 Deletion Syndrome |
|
Small scrotum, Congenital hip dislocation, Single transverse palmar crease, Micrognathia, 2-3 toe... |
OMIM:609625 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Pes planus, Broad hallux, Short neck, Abnormal hair whorl, Synophrys, Increased body weight, Hors... |
OMIM:300860 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... |
ORPHA:85327 |
Limb-Mammary Syndrome |
|
Syndactyly, Alopecia, Absent nipple, Toe syndactyly, Psoriasiform dermatitis, Chronic irritative ... |
ORPHA:69085 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension, Tapered finger |
OMIM:300706 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Impaired glucose tolerance, Ventricular septal defect, Splenomegaly, Postaxial hand... |
OMIM:615630 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Proteinuria, Ventricular septal defect, Nephrogenic diabetes ... |
OMIM:613404 |
Lesch-Nyhan Syndrome |
|
Testicular atrophy |
OMIM:300322 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, 2-3 toe cutaneous syndactyly, Narrow foot, Femoral bowing... |
OMIM:600920 |
Sotos Syndrome |
|
Joint laxity, Pes planus, Abnormality of the kidney, Neonatal hypoglycemia, Sparse eyebrow, Crypt... |
OMIM:117550 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Fixed Drug Eruption |
|
Vaginal mucosal ulceration |
ORPHA:293812 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Melanonychia, Pancreatic adenocarcinoma, Enlarged polycystic ovaries... |
ORPHA:2869 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien... |
ORPHA:79408 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragma... |
ORPHA:261197 |
Teebi Hypertelorism Syndrome 1 |
|
Highly arched eyebrow, Widow's peak, Hydrocele testis, Bicornuate uterus, Shawl scrotum |
OMIM:145420 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Atrial septal defect, Vesicour... |
OMIM:118450 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity |
OMIM:620133 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Otitis media, Vesicoureteral reflux, A... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Compulsive behaviors, Otitis media, Vesicoureteral reflux, A... |
ORPHA:353277 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Micrognathi... |
OMIM:618821 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai... |
ORPHA:97287 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Fibular hypopl... |
ORPHA:1788 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar an... |
OMIM:618280 |
Radio-Tartaglia Syndrome |
|
Pes planus, Ataxia, Ventricular septal defect, Impulsivity, Tapered finger, Precocious puberty, M... |
OMIM:619312 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... |
ORPHA:35078 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Congenital hypothyroidism, Synophrys, Horizontal eyebrow, Obesity |
ORPHA:352530 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Elevated hemoglobin A1c, Hypoglycem... |
OMIM:616113 |
Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hi... |
OMIM:241800 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Rickets |
OMIM:211600 |
Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response... |
ORPHA:96179 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Hypospadias, Ventricular septal defect, Abnormal cortical gyration... |
OMIM:236680 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Abnormality of the hand, Abnormality of the menstrual cycle, Aggre... |
ORPHA:905 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Recurrent respiratory infections, Atrial septal defect, Micromelia, Precocious puberty, Coxa vara... |
ORPHA:2637 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Transverse vagina... |
OMIM:129900 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Limited elbow movement, Micrognathia, Hemivertebrae, ... |
OMIM:134780 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Proteinuria, Small for ge... |
OMIM:133540 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Intention tremor |
OMIM:619322 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Precocious puberty in females, Ataxia, Aggressive behavior, Inab... |
ORPHA:72 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Hyperactivity, Eczema, Aggressive behavior, Hypothyroi... |
OMIM:600430 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b... |
ORPHA:2878 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Cryptorchidism, Decreased circulating antibody level, Agammaglobulinemia, Polydactyl... |
OMIM:616910 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells, Recurrent respiratory infections, Bronchiectasis |
OMIM:608957 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Ataxia, Aggressive behavior, Precocious puberty, Preaxial polydactyl... |
ORPHA:163681 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Micrognathia, High iliac wing, Osteopetrosis, Large iliac wing, F... |
ORPHA:2780 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Vulval varicose vei... |
ORPHA:71273 |
Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Central Y-shaped metacarpal, Hypothalamic hamartoma, Occipital menin... |
OMIM:277170 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Atrial septal defect, Decreased circula... |
OMIM:620005 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Clinodactyl... |
ORPHA:1606 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cutaneous finger syndactyly, Hypoalbuminemia, Short palm, Hypoplastic iliac wing,... |
OMIM:235510 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Micrognathia, Oral-pharyngeal dysphagia, Prominent protruding coccyx, Obesity, Lipoma, Chronic ot... |
ORPHA:480907 |
16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Nail-biting, Hyperactivity, Atrial septal defect, Decreased response to growth hor... |
ORPHA:485405 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Abnormal penis morphology... |
ORPHA:95455 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, External genital hypoplasia, Micrognathia, Generalized joint laxity, Tibial bowing, C... |
ORPHA:251028 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Urinary incontinence, Large for gestational age, Central... |
ORPHA:169189 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Pancreatic fibrosis, Ventricular septal defect, Pachygyria, Preaxial hand p... |
OMIM:263520 |
Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, Cryptorchidism, Splenomegaly, Obesity, Horseshoe kidne... |
OMIM:616368 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Hyperactivity, Scapular winging, Small for gestational age, Bilateral cryptorchidism, Cryptorchid... |
OMIM:617796 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Arms, Malformation Of |
|
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius |
OMIM:107900 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen... |
ORPHA:763 |
Distal Triplication 15Q |
|
Atrial septal defect, Abnormal external genitalia, Arachnodactyly, Craniosynostosis, Micrognathia... |
ORPHA:314588 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Bowing of the legs, Anti-dsDNA antibody po... |
ORPHA:1855 |
Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Single transverse palmar crease, Premature thelarch... |
OMIM:180849 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... |
ORPHA:50945 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Obesity, Genu valgum, Joint hy... |
ORPHA:1035 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Reduced bone min... |
OMIM:617052 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Coarse hair, Stage 5 chronic kid... |
OMIM:619603 |
Multiple Myeloma |
|
Osteopenia, Tall stature, Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated ... |
ORPHA:29073 |
W Syndrome |
|
Pes planus, Hypoplasia of the ulna, Radial bowing, Acne, Metatarsus adductus, Elbow dislocation, ... |
ORPHA:2804 |
Renal Agenesis |
|
Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,... |
ORPHA:411709 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Hypospadias, Camptodactyly of finger, T... |
ORPHA:90652 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Decreased respon... |
ORPHA:1896 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesity, Difficulty walking |
ORPHA:464282 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hypoglycemic seizures, Tics, Atrial septal defect,... |
OMIM:616364 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated circulating C-rea... |
ORPHA:54251 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Compulsive behaviors, Short palm, Clinodactyly of the 5th finger... |
ORPHA:1001 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity |
OMIM:603233 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Pes planus, Joint laxity, Hyperactivity, Periventricular heterotopi... |
OMIM:300624 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Obesity, H... |
ORPHA:3157 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... |
OMIM:602557 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... |
OMIM:608971 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Auto... |
OMIM:614700 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra... |
OMIM:251230 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Tapered finger, Overweight, Dilated cardiomyopathy, Small hand, Renovascul... |
ORPHA:401923 |
Neuhauser Syndrome |
|
Osteopenia, Pes planus, Arachnodactyly, Genu recurvatum, Ataxia, Micrognathia, Dysphagia, Genu va... |
OMIM:249310 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Dysphagia, Hypothalamic atrophy... |
ORPHA:2822 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Boutonneuse Fever |
|
Abnormal skin morphology of the palm, Renal insufficiency, Maculopapular exanthema, Skin rash, Ce... |
ORPHA:83313 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Alopecia, Abnormal hair pattern, Abnormality... |
ORPHA:2315 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Trisomy 20P |
|
Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b... |
ORPHA:261318 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Decreased response to growth hormone stimulation test, Diaphyseal... |
ORPHA:94089 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Abnormal renal morpholo... |
OMIM:207410 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Vaginal fistula |
OMIM:619318 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Ataxia, Tapered finger, Micrognathia, Abnormal repetitive mannerisms, Joint hyperflex... |
ORPHA:2479 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Small for gestational age, Cor pulmonale, Macronodular cirrhosis, Abnormal T cell mo... |
OMIM:215250 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Osteoarthritis, Pedal edema, Aminoaciduria, Hy... |
OMIM:277900 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Recurrent skin infections, Abnormality of the kidney, Decreased serum iron, Si... |
ORPHA:391372 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Bone cyst, ... |
ORPHA:2668 |
Gaucher Disease |
|
Osteopenia, Elevated circulating C-reactive protein concentration, Osteoarthritis, Hepatomegaly, ... |
ORPHA:355 |
Duplication Of Urethra |
|
Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia... |
ORPHA:237 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity, Highly arched eyebrow |
ORPHA:261229 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... |
OMIM:600802 |
Denys-Drash Syndrome |
|
Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Hypertension, Ne... |
ORPHA:220 |
Sodium-Dependent Multivitamin Transporter Deficiency |
|
Clubbing of fingers, Decreased circulating IgG level, Polymicrogyria |
OMIM:618973 |
Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Hyperhidrosis, Cutaneous finger syndacty... |
OMIM:101200 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... |
OMIM:201810 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Acute tubulointerstitial nephritis, Tu... |
ORPHA:340 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Unilateral cryptorchidism, Large for gestational age, Overgrowth, Pulmonic stenosis, Tall stature |
ORPHA:137634 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Ataxia, Abnormal he... |
ORPHA:36412 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... |
OMIM:615285 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... |
OMIM:308240 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the panc... |
ORPHA:2470 |
Say-Barber-Miller Syndrome |
|
Eczema, Craniosynostosis, Micrognathia, Erythema nodosum, Cryptorchidism, Talipes equinovalgus, H... |
ORPHA:3132 |
Tarp Syndrome |
|
Finger syndactyly, Broad-based gait, Extramedullary hematopoiesis, Rocker bottom foot, Postaxial ... |
ORPHA:2886 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... |
OMIM:616329 |
Baralle-Macken Syndrome |
|
Obesity, Hirsutism |
OMIM:619255 |
Trichothiodystrophy |
|
Osteopenia, Congenital exfoliative erythroderma, Multiple joint contractures, Gait ataxia, Conjun... |
ORPHA:33364 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ... |
ORPHA:1521 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Difficulty walking, Stomatitis, Failure ... |
OMIM:612782 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect, Cryptorchidism, Hypomagnesemia, Attention deficit hyperactivity disord... |
OMIM:619908 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Abnormal T-wave, Dilated cardiomyopathy, Obesi... |
ORPHA:563 |
Ddost-Cdg |
|
Osteopenia, Hepatic steatosis, Lipodystrophy, Primary hypothyroidism, Failure to thrive, Nephroti... |
ORPHA:300536 |
8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial... |
DECIPHER:39 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Lymphoproliferative Syndrome 3 |
|
Decreased circulating antibody level, Partial absence of specific antibody response to tetanus va... |
OMIM:618261 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... |
ORPHA:2322 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Hypercholesterolemia, Intrinsic hand muscle atrophy, Abnormal circ... |
ORPHA:488650 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Cockayne Syndrome |
|
Urinary incontinence, Congenital contracture, Progressive gait ataxia, Hepatomegaly, Ataxia, Cryp... |
ORPHA:191 |
Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Rectal abscess, Neut... |
OMIM:601495 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... |
ORPHA:2319 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In... |
OMIM:620010 |
Legionnaires Disease |
|
Anorexia, Abnormal lung morphology, Infectious encephalitis, Hyponatremia, Ataxia, Recurrent phar... |
ORPHA:549 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Tubulointerstitial nephritis, Leukopenia, Hashimoto thyroiditis, ... |
ORPHA:227990 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Hyperactivity, Hypospadias, Truncus arteriosus, Ventricular septal defect, ... |
OMIM:617516 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Ppoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Elevated circulating growth hormone concen... |
ORPHA:97278 |
Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter... |
OMIM:135900 |
Acromegaly |
|
Dysmenorrhea, Osteoarthritis, Wide penis, Synophrys, Hyperhidrosis, Pituitary prolactin cell aden... |
ORPHA:963 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Membranoproliferative glomerulonephritis, Lipodystrophy |
OMIM:305800 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Micrognathia, Absent thumb, Absent radius, Short n... |
OMIM:614083 |
Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis |
OMIM:601979 |
Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis |
OMIM:616937 |
Wiedemann-Steiner Syndrome |
|
Joint laxity, Pes planus, Hyperactivity, Broad-based gait, Atrial septal defect, Micrognathia, Ta... |
OMIM:605130 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin... |
OMIM:136140 |
Cohen Syndrome |
|
Pes planus, Short metacarpal, Small for gestational age, Decreased response to growth hormone sti... |
OMIM:216550 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Glycosuria, Postpr... |
ORPHA:2088 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Abnormality of... |
ORPHA:449432 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Pancytopenia, Micrognathia, Cryptorchidism, Leukocytosis, Acut... |
ORPHA:99812 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Type I diabetes mellitus, Diabetic ketoacidosis, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, ... |
OMIM:613951 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Tubulointerstitial nephritis, Leuk... |
ORPHA:227982 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp... |
ORPHA:75234 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Bicuspid aortic valve, Single transverse palmar crease, Tics, Compulsive behaviors... |
OMIM:619475 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Congenital diaphragma... |
ORPHA:199 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Waddling gait, Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis... |
ORPHA:93308 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, C... |
OMIM:210900 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Congestive heart failure, Kyphoscoliosis |
OMIM:300886 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Hypoplas... |
OMIM:119600 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Abnormality of the hypothalamus-pi... |
ORPHA:900 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Pes planus, Curly hair, Hypospadias, Diastasis recti, Large for gestational age, Cryptorchidism, ... |
ORPHA:457485 |
Diffuse Alveolar Hemorrhage |
|
Antiphospholipid antibody positivity, Proteinuria, Rheumatoid factor positive, Autoimmunity, Anti... |
ORPHA:90060 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Small scrotum, Proteinuria, Cryptorchidism, Heart murmur, Multiple bladder diverticula, Recurrent... |
ORPHA:2728 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Aplasia of the pectoralis major... |
ORPHA:2911 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Palmoplantar keratoder... |
OMIM:610644 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Hepatomegaly, Hypoglycemia, Tapered finger, Precocious puberty, Abnormal repetitive m... |
OMIM:301066 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Micrognathia, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnorma... |
ORPHA:3404 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Acne, Bilateral single transverse palmar creases, Micrognathia, Biliary tract ab... |
ORPHA:3191 |
Holt-Oram Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna... |
OMIM:142900 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Cowden Syndrome |
|
Abnormal penis morphology, Endometrial carcinoma, Brachydactyly, Ataxia, Follicular thyroid carci... |
ORPHA:201 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Neu-Laxova Syndrome |
|
Osteopenia, External genital hypoplasia, Micromelia, Micrognathia, Flexion contracture, Pachygyri... |
ORPHA:2671 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Felty Syndrome |
|
Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur... |
ORPHA:47612 |
Microphthalmia With Limb Anomalies |
|
Failure to thrive, Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Single transverse palma... |
OMIM:206920 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Alg9-Cdg |
|
Micrognathia, Abnormal lung lobation, Right ventricular dilatation, Narrow greater sciatic notch,... |
ORPHA:79328 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess |
OMIM:613743 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Genu recurvatum, Fatty replacement of skeletal muscl... |
ORPHA:206549 |
Malakoplakia |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnorma... |
ORPHA:556 |
Fabry Disease |
|
Anorexia, Abnormal femur morphology, Reduced bone mineral density, Nephropathy, Emphysema, Glomer... |
ORPHA:324 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short foot, Short palm, Micropenis |
OMIM:241410 |
Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Atrial septal defect,... |
ORPHA:2044 |
Somatomammotropinoma |
|
Dysmenorrhea, Osteoarthritis, Synophrys, Hyperhidrosis, Pituitary prolactin cell adenoma, General... |
ORPHA:314769 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Joint laxity, Hyperactivity, Hypospadias, Micrognathia, Long fingers, Tics, Inappropria... |
ORPHA:363686 |
Opitz Gbbb Syndrome |
|
Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Vesicouretera... |
ORPHA:2745 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Patent fo... |
OMIM:618653 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo... |
ORPHA:63 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... |
OMIM:161900 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Hypoglycemia, Sparse eyelashes, Large for gestational age, Cry... |
OMIM:619075 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, Clinodactyly of the 5th finger, At... |
OMIM:607872 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Rickets |
OMIM:616026 |
Hsd10 Disease |
|
Abnormal social behavior |
ORPHA:391417 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchid... |
ORPHA:1827 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... |
ORPHA:2756 |
X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Laterally curved eyebrow, Contracture of the p... |
OMIM:300166 |
Fg Syndrome 3 |
|
Hyperactivity, Broad hallux, Cryptorchidism, Joint contracture, Broad thumb |
OMIM:300406 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Myocardial infarction, Truncal obesity, Abdominal obesity, Hypertension, Type II diabetes mellitu... |
OMIM:615812 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia |
OMIM:258865 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Pediatric-Onset Graves Disease |
|
Thyrotoxicosis with diffuse goiter, Anti-thyroid peroxidase antibody positivity, Increased circul... |
ORPHA:525731 |
Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Antinuclear antibody positivity, Discoid ... |
ORPHA:536 |
Fanconi Anemia, Complementation Group C |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... |
OMIM:227645 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... |
OMIM:127000 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Pes planus, Proteinuria, Overlapping toe, Ventricular septal defect, Hiatus hernia, Precocious pu... |
OMIM:616682 |
Grfoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Elevated circulating growth hormone concen... |
ORPHA:97261 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Decreased response to growth hormone stimulation t... |
OMIM:307200 |
Ellis Van Creveld Syndrome |
|
Micromelia, Epispadias, Atrial septal defect, Atrioventricular canal defect, Emphysema, Synostosi... |
ORPHA:289 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Urinary incontinence, Thenar muscle atrophy, Obesity, Urinary urgency, Ankle clonus, Tip-... |
OMIM:604360 |
Myh9-Related Disease |
|
Prolonged bleeding time, Renal insufficiency, Spontaneous, recurrent epistaxis, Proteinuria, Incr... |
ORPHA:182050 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
Pauci-Immune Glomerulonephritis |
|
Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Nephrot... |
ORPHA:93126 |
Chronic Mucocutaneous Candidiasis |
|
Dyspareunia, Abnormal vagina morphology |
ORPHA:1334 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Recurrent respiratory infections, Absent inner dynein arms, Chronic bronchitis,... |
OMIM:613807 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Sandal gap, Aggressive behavior, Obesity, Clinodactyly |
OMIM:617752 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Distal lower limb muscle weakness, ... |
ORPHA:94124 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Nephronophthisis, Short phalanx of finger, Gen... |
OMIM:184260 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
Noonan Syndrome 8 |
|
Curly hair, Left ventricular hypertrophy, Eczema, Large for gestational age, Short neck, Cryptorc... |
OMIM:615355 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Somatostatinoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Elevated circulating gr... |
ORPHA:97283 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Tubulointerstitial nephritis, Glomerulopathy, Abnormal pericardium morpholog... |
ORPHA:183 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Broad hallux, Abnormality of the kidney, Micrognathia, Obesity, Hypoplastic left heart, Polysplen... |
OMIM:610543 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Elevated circula... |
ORPHA:449400 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Noonan Syndrome 4 |
|
Abnormal bleeding, Ureteral duplication, Curly hair, Large for gestational age, Sparse eyebrow, C... |
OMIM:610733 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, T2 hypointense thalamus, Bone cyst, Gait disturbance, Disinhibition, Pathologic fracture |
OMIM:618193 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomeg... |
OMIM:232220 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Secundum atrial septal ... |
OMIM:619534 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Hyperglycemia, Diabetes mellitus, Small for gestational age |
OMIM:606176 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Micromelia, Postaxial polydactyly, Hypoplasti... |
OMIM:617895 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypogl... |
ORPHA:116 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Congestive heart failure, Pituitary adenoma, P... |
OMIM:160980 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... |
OMIM:616084 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Hypospadias, Micrognathia, Jaundice, ... |
OMIM:301045 |
Vipoma |
|
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... |
ORPHA:97282 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Bifid scrotum, Single transverse palmar crease, Micrognathia, Distally placed thumb, Encephalocel... |
OMIM:619148 |
Anti-Glomerular Basement Membrane Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Autoimmunity, Hematuria, Arthritis, Anemia |
ORPHA:375 |
Nelson Syndrome |
|
Increased urinary cortisol level, Lower limb muscle weakness, Testicular neoplasm, Pituitary cort... |
ORPHA:199244 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Maternal diabetes, Ectopic kidney, Mis... |
ORPHA:3027 |
Lambert Syndrome |
|
Inguinal hernia, Hypospadias, Failure to thrive in infancy, Ventricular septal defect, Jaundice, ... |
ORPHA:1296 |
Fragile X Syndrome |
|
Joint laxity, Pes planus, Sinusitis, Otitis media, Macroorchidism, Chronic otitis media |
ORPHA:908 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Sandal gap, Lipodystrophy, Ventricular se... |
OMIM:270450 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449563 |
Partington Syndrome |
|
Macroorchidism, Facial telangiectasia |
ORPHA:94083 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Recurrent aspiration pneumonia, Psoriasiform dermatitis, Ataxia, Clinodactyly of the ... |
ORPHA:221139 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
Upper Limb Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger |
ORPHA:2497 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, External genital hypoplasia, Ca... |
ORPHA:79330 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Decreased circulating antibody level, Abnorma... |
OMIM:613101 |
Pontocerebellar Hypoplasia Type 7 |
|
Skeletal muscle atrophy, Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgene... |
ORPHA:284339 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Pes planus, Hyperactivity, Sandal gap, Tapered finger, Small hand, Obesity, Short foot, Clinodact... |
OMIM:618089 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity, Telangiectasia |
ORPHA:459033 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chr... |
OMIM:613845 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Pericarditis, Proteinuria, Rocker bottom foot, Craniosynostosis, Tapered finger,... |
ORPHA:1272 |
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... |
OMIM:619761 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Joint laxity, Spastic ataxia, Micrognathia, Metatarsus adductus, Abnormal repetitive mannerisms, ... |
ORPHA:300570 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Tall stature, Broad-based gait, Long palm, Recurrent fra... |
OMIM:309583 |
Laron Syndrome |
|
Limb undergrowth, Decreased serum insulin-like growth factor 1, Delayed menarche, Short long bone |
OMIM:262500 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... |
ORPHA:226313 |
Gaucher Disease Type 3 |
|
Hepatomegaly, Increased bone mineral density, Ataxia, Pericardial effusion, Increased susceptibil... |
ORPHA:77261 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Ataxia, Renal agenesis, Micrognathia, Bilateral cryptorchidism... |
ORPHA:2754 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ... |
ORPHA:247691 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Steppage gait, Hypoalbuminemia, Hypercholesterolemia, Pes cavus |
OMIM:607250 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Cutaneous syndactyly, Ureteral agene... |
OMIM:617666 |
Donnai-Barrow Syndrome |
|
Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Wide anterior fo... |
OMIM:222448 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Chronic gastritis, Myocardial infarction, Micrognathia, Bilateral cryptorchidism, Hyp... |
OMIM:150230 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Limitation of joint mobili... |
ORPHA:69126 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester... |
OMIM:245900 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Addictive alcohol use, Hyperglycemia, Left ventricular hypertrophy, Hypercholestero... |
ORPHA:90065 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Cone-shaped epiphyses of the 4th toe, Hyperactivity, Obesity, Atopic dermatitis, C... |
ORPHA:397973 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual m... |
OMIM:194050 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Flexion contracture, Leukopenia, Hypoalbuminemia, Conjunctivitis, Hernia, Atrial septal defect, D... |
ORPHA:505248 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hem... |
ORPHA:90041 |
Giant Axonal Neuropathy |
|
Facial palsy, Abnormal hand morphology, Abnormal pituitary gland morphology, Genu valgum, Talipes... |
ORPHA:643 |
Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Joint stiffness, Hypoplastic vertebral bodies, Limb undergrowth, Thin bony cortex |
OMIM:230600 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Zollinger-Ellison Syndrome |
|
Increased urinary cortisol level, Gastrointestinal hemorrhage, Hyperparathyroidism, Pituitary nul... |
ORPHA:913 |
Currarino Syndrome |
|
Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Hemisacrum, Urinar... |
OMIM:176450 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Aspiration pneumo... |
ORPHA:444077 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Decreased circulating antibody level, Leukopenia, Aplasia/Hypoplasia ... |
ORPHA:33355 |
Ciliary Dyskinesia, Primary, 41 |
|
Bronchiectasis, Infertility, Recurrent sinusitis, Immotile sperm, Recurrent otitis media |
OMIM:618449 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance |
ORPHA:93952 |
Adiposis Dolorosa |
|
Hypothyroidism, Xerostomia, Obesity, Arthritis |
ORPHA:36397 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Synophrys, Joint hypermobility |
OMIM:300143 |
Galloway-Mowat Syndrome 5 |
|
Ataxia, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Pachygyr... |
OMIM:617731 |
Johanson-Blizzard Syndrome |
|
Clinodactyly of the 5th finger, Micropenis, Hypothyroidism, Joint laxity, Hypospadias, Urethrovag... |
OMIM:243800 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Encephalocele, Broad long bones, Micromelia, Bowing of the legs, Micrognathia, Cryptorchidism, Hy... |
ORPHA:1865 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Multicystic kidney dysplasia, Absent vas deferens, Hypospadias, Diabetes mellitus, Aplasia/Hypopl... |
ORPHA:93111 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism, Sparse eyelashes, Sparse eyebrow |
ORPHA:139474 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Type II diabetes mellitus, Obesity, Myocardial infarction |
OMIM:618620 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Recurrent hypoglycemia, Increased body weight, Increased ... |
ORPHA:94086 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Microvesic... |
OMIM:619377 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Diabetes mellitus, Recu... |
ORPHA:1775 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple |
ORPHA:3224 |
Distal Duplication 17Q |
|
Accessory spleen, Hallux valgus, Joint laxity, Hyperactivity, Arachnodactyly, Rhizomelia, Overlap... |
ORPHA:3379 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Hyperactivity, Postaxial polydactyly, Aggressive behavior, Cryptorchidism, Proximal renal tubular... |
OMIM:615824 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Endometriosis, High anterior hairline, Micropenis |
ORPHA:363444 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Hepatomegaly, Ketonuria, Hypouricemia, Osteomalacia, Renal tubular dysfunct... |
OMIM:227810 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Flexion contracture, Renal hypoplasia, Genu valgum, Abdominal obesity, Hypoplasia o... |
OMIM:619321 |
Osteogenesis Imperfecta |
|
Osteopenia, Micromelia, Micrognathia, Abnormal tibia morphology, Flexion contracture, Osteoarthri... |
ORPHA:666 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, External genital hypoplasia, Adrenal hypoplasia, Micrognathia, Asplenia,... |
OMIM:249000 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Abnormality of the spleen, Abnormality of... |
ORPHA:2552 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
African Trypanosomiasis |
|
Urinary incontinence, Conjunctivitis, Iritis, Abnormal EKG, Alopecia, Abnormality of the endocrin... |
ORPHA:3385 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Hypogonadotropic hypogonadism, Hypospadias, Joint hypermobility, Cryptorchidism, Oste... |
OMIM:619718 |
Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen... |
OMIM:619381 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira... |
ORPHA:444463 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Failure to thrive, Proteinuria... |
ORPHA:1018 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Sandal gap, Broad hallux, Aggressive behavior, Cryptorchidism, Obesity, Self-injur... |
OMIM:616078 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Cardiac arrest, Premature thelarche, Acute rhabdomyolysis, Rhabdomyolysi... |
OMIM:616878 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Aplasia/Hypoplasia of the clavicles, Hyperlipidemia, Flexion contracture, Limitation of joint mob... |
ORPHA:90153 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Ataxia, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Clinodactyly, Decreased p... |
OMIM:603585 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Intrahepatic cholestasis, Mild proteinuria, Irritability, Increased ser... |
OMIM:619685 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Genu valgum, Hypophosphatemia, Aminoaciduria, Pulmon... |
OMIM:618913 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Abnormal metatarsal morphology, Cryptorchidism, Rhizo-meso-acromelic limb short... |
ORPHA:163654 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Renal cyst, Pedal edema, Ataxia, Abnormal pericardium morphology, Por... |
ORPHA:284 |
Distal 16P11.2 Microdeletion Syndrome |
|
Arachnodactyly, Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, O... |
ORPHA:261222 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... |
ORPHA:91350 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Failure to thrive, Increased circulating IgE level, Decreased p... |
OMIM:615767 |
Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Renal agenesis, Spina bifida, Micrognathi... |
ORPHA:3412 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Eosin... |
OMIM:616651 |
Orofaciodigital Syndrome Type 4 |
|
Micromelia, Micrognathia, Aplasia/Hypoplasia of the tibia, Genu varum, Finger syndactyly, Split h... |
ORPHA:2753 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
6Q16 Microdeletion Syndrome |
|
Obesity, Thick eyebrow |
ORPHA:171829 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, Atrial septal defect... |
OMIM:107480 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Joint hypermobility |
OMIM:619056 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Quadriceps muscle atrophy, Precocious puberty, Inability to ... |
ORPHA:845 |
Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Micropenis, Bicornuate uterus, Adrenal hypoplasia |
OMIM:264480 |
Meacham Syndrome |
|
Aplasia of the right hemidiaphragm, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bic... |
OMIM:608978 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Generalized joint lax... |
ORPHA:93357 |
Immunodeficiency 46 |
|
Decreased circulating antibody level, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Vaginal stricture, Atrophic scars, Enamel hypoplasia, Nail dystrophy |
ORPHA:79409 |
Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Overweight, Obesity, Hypertension, Cholelithiasis, Pancreatitis |
ORPHA:69663 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Proteinuria, Skin rash, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, N... |
OMIM:105200 |
Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Osteopetr... |
ORPHA:35107 |
Heme Oxygenase 1 Deficiency |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Proteinuria, E... |
OMIM:614034 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Vacterl/Vater Association |
|
Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Congenital diaphragmatic hernia, Ect... |
ORPHA:887 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Rickets |
OMIM:607765 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Osteoporosis, Hip dislocation, Reduced bone min... |
OMIM:616507 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... |
ORPHA:98855 |
Fanconi Anemia, Complementation Group E |
|
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Small for gestational... |
OMIM:600901 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Ataxia, Micrognathia, Inability to walk, Unsteady gait, Small hand, Obesity, Perisy... |
OMIM:618443 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Congenital di... |
OMIM:613406 |
Noonan Syndrome 5 |
|
Curly hair, Large for gestational age, Sparse eyebrow, Cryptorchidism, Short neck, Fine hair, Arr... |
OMIM:611553 |
Spondyloocular Syndrome |
|
Long toe, Pes planus, Osteopenia, Arachnodactyly, Unilateral cryptorchidism, Femur fracture, Over... |
OMIM:605822 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Pedal ... |
ORPHA:342 |
Townes-Brocks Syndrome |
|
Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Triphalangeal thum... |
ORPHA:857 |
Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Patchy osteosclerosis, Micrognathia, Cryptorchidism, Small hand, Short foot |
ORPHA:2323 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
Fryns Syndrome |
|
Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, ... |
OMIM:229850 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, 2-3 toe syndactyly, Irritabi... |
ORPHA:391307 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Postaxial polydactyl... |
OMIM:615849 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Ambiguous genitalia, female, Ambiguous geni... |
OMIM:602398 |
Niemann-Pick Disease, Type A |
|
Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Spleno... |
OMIM:257200 |
Mosaic Trisomy 16 |
|
Syndactyly, Hypospadias, Small for gestational age, Maternal diabetes, Ventricular septal defect,... |
ORPHA:1708 |
Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Hypothyroidism, Rheumatoid arthritis, Increased circulating antibody level |
ORPHA:48377 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Micrognathia, Insulin-resistant diabetes mellitus, Flexion contracture, H... |
OMIM:608612 |
Myhre Syndrome |
|
Hypoplastic iliac wing, Atrial septal defect, Vertebral fusion, Ataxia, Pericardial effusion, Cry... |
OMIM:139210 |
X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity, Thick eyebrow |
ORPHA:85325 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Abnormal bone o... |
ORPHA:2563 |
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb |
OMIM:179250 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ... |
ORPHA:276621 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Small scrotum, Micrognathia, Talipes calcaneovalgus, Vesicoureteral reflux, Micropenis, Paroxysma... |
OMIM:309580 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Small scrotum, Increased density of long bones, Hypospadias, Wide distal femoral metaphysis, Hypo... |
OMIM:269150 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... |
ORPHA:98853 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Positional foot deformity, Prominent fingertip pads, Atrial septal defect,... |
OMIM:610443 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Craniosynostosis, Eczema, Keratitis, Increased ci... |
OMIM:618523 |
Oculodentodigital Dysplasia |
|
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Micrognathia, Aplasia/H... |
ORPHA:2710 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P... |
ORPHA:29072 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ma... |
ORPHA:322 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Vaginal atresia, Abnormality of the hairline |
OMIM:248450 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Lipoatrophy, Left atrial enlargement, Limited elbow movement, Decreased serum ... |
OMIM:614008 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent sinopulmonary infections, Skin rash, Recurrent fractures, Craniosynostosis,... |
OMIM:147060 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Joint hypermobility, Micrognathia, Hypercalciuria, Nephrocalcin... |
OMIM:300990 |
Primrose Syndrome |
|
Bilateral cryptorchidism, Flexion contracture, Knee flexion contracture, Reduced bone mineral den... |
OMIM:259050 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Abnormal thumb morphology, Congestive he... |
ORPHA:324410 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Failure to thrive, Severe B lymphocytopenia, Arachnodactyly, Overlapping toe, Superficial dermal ... |
ORPHA:83617 |
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Hypospadias, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
Vici Syndrome |
|
Elevated circulating creatine kinase concentration, Micrognathia, Leukopenia, T lymphocytopenia, ... |
OMIM:242840 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... |
OMIM:615573 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity, Low posterior hairline |
OMIM:611936 |
Angiostrongyliasis |
|
Stiff neck, Increased circulating IgA level, Hypereosinophilia, Increased circulating specific Ig... |
ORPHA:74 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Bilateral cryptorchidism, Preaxial polydactyly, Coxa vara, Knee ... |
OMIM:614976 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Sandal gap, Ataxia, Ventricular septal defect, Overweight, In... |
OMIM:619229 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Hypertriglyceridemia, L... |
ORPHA:98863 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Micrognathia... |
ORPHA:529962 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Premature graying of hair, Whit... |
ORPHA:3440 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin... |
OMIM:208920 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavi... |
ORPHA:98794 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Focal Segmental Glomerulosclerosis 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Shox-Related Short Stature |
|
Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing, Forearm underg... |
ORPHA:314795 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Ataxia, Obesity, Joint hypermobility |
OMIM:620191 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Compulsive behavi... |
ORPHA:293987 |
Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... |
OMIM:267000 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Abnormality of the kidney, Tracheomalacia, Tapered finger, Precocious puberty, L... |
ORPHA:261652 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Thrombocytosis, Anemia of inadequate production, Megaloblastic a... |
OMIM:617780 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overrid... |
ORPHA:3186 |
Glucagonoma |
|
Neoplasm of the pancreas, Gastrointestinal hemorrhage, Diabetes mellitus, Elevated circulating gr... |
ORPHA:97280 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Synophrys |
OMIM:613192 |
Aspartylglucosaminuria |
|
Pes planus, Recurrent respiratory infections, Aspartylglucosaminuria, Inguinal hernia, Abnormal m... |
ORPHA:93 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact... |
OMIM:602418 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Small scrotum, Reduced bone mineral density, Hypoalbuminemia, Hypocalcemia, Emphysema... |
OMIM:613658 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, Glucose intolerance, ... |
OMIM:619127 |
Pallister-Killian Syndrome |
|
Small scrotum, Congenital hip dislocation, Edema of the dorsum of feet, Congenital diaphragmatic ... |
OMIM:601803 |
Faciocardiomelic Syndrome |
|
Osteopenia, Micrognathia, Slender long bone, Polydactyly, Hypoplastic pelvis, Thin bony cortex |
OMIM:612731 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail dyst... |
OMIM:106260 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Coiled sperm flagella, Short sperm flagella, Male infertility |
OMIM:620197 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Uveitis, Nephrocalcinosis, Tubulointerstitial n... |
ORPHA:797 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Anorexia, Portal hypertension, Hypersplenism, Thrombocytop... |
ORPHA:98850 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Failure to thrive, Ventri... |
ORPHA:79329 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hip contracture, Hyperphosphaturia, Bowing of the long bones, Osteopenia, Hyp... |
OMIM:156400 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosi... |
ORPHA:39041 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Postaxi... |
ORPHA:435638 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, L... |
OMIM:213980 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Bilateral cryptorchidism, Neutropenia, Failure to t... |
OMIM:616395 |
Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Dysmet... |
ORPHA:217260 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension... |
OMIM:193300 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Episcleritis, Proteinuria, Skin... |
ORPHA:761 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Sandal gap, Ataxia, Tapered finger, Aggressive behavior, Obesity, Compulsive behav... |
OMIM:618430 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Abnormally ossified vertebrae, In... |
ORPHA:800 |
Aapoaiv Amyloidosis |
|
Back pain, Atrial flutter, Diabetes mellitus, Proteinuria, Abnormal cardiac ventricular function,... |
ORPHA:439232 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Recur... |
OMIM:240500 |
Ivic Syndrome |
|
Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the ra... |
ORPHA:2307 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ... |
ORPHA:175 |
Leopard Syndrome 1 |
|
Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Limited elbow move... |
OMIM:151100 |
Dubowitz Syndrome |
|
Syndactyly, Pes planus, Inguinal hernia, Aplastic anemia, Hypospadias, Hyperactivity, Micrognathi... |
OMIM:223370 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ... |
OMIM:259720 |
Rosaï-Dorfman Disease |
|
Dysgammaglobulinemia, Osteolysis, Anemia, Lymphadenopathy |
ORPHA:158014 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatos... |
ORPHA:275761 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Cachexia, Absence of subcutane... |
OMIM:610965 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Structural foot deformity, Renal cyst... |
ORPHA:464306 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Hepatomegaly, Circulating immu... |
ORPHA:91138 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Clinodactyly of the 5th finger, Pelvic kidney, Hypospad... |
OMIM:619522 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Increased serum beta-hexosaminidase, Micrognathia, Cardiomegaly, Metaphyseal widening... |
OMIM:252500 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia |
ORPHA:94063 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Pedal edema, Nephrotic syn... |
ORPHA:84090 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Metaphyseal widening, T lymphocytopenia, Neutropenia, Juvenile rheumatoid arthritis, Hypothyroidi... |
OMIM:607944 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... |
OMIM:618820 |
Mend Syndrome |
|
Failure to thrive, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Aggressive behavio... |
ORPHA:401973 |
Iga Nephropathy, Susceptibility To, 1 |
|
Purpura, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA dep... |
OMIM:161950 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidn... |
OMIM:617088 |
Leigh Syndrome |
|
Multiple joint contractures, Choreoathetosis, Complex organic aciduria, Neutropenia, Ataxia, Rena... |
ORPHA:506 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, R... |
ORPHA:2570 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Joint laxity, Pes planus, Hyperactivity, Hyperthyroidism, Diabetes mellitus, Autoimmunity, Shynes... |
ORPHA:449291 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Tachycardia, Small for gestational age, Overweight, Dilated cardiomyopathy... |
ORPHA:26793 |
Pagod Syndrome |
|
Omphalocele, Encephalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Spina ... |
ORPHA:991 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Diffuse alve... |
ORPHA:90068 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Short foot, Micropenis, Thickened cortex of long bones, Broad femoral nec... |
ORPHA:488434 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... |
OMIM:609049 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Atrial septal defect, Ureteral hypoplasia, Congenital diap... |
OMIM:614080 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... |
ORPHA:90280 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Conjugated hyperbil... |
ORPHA:79303 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Metrorrhagia, Anorexia, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocytosis... |
ORPHA:520 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Abnorma... |
ORPHA:35687 |
Rhombencephalosynapsis |
|
Microretrognathia, Finger syndactyly, Abnormal renal morphology, Polydactyly, Abnormality of the ... |
ORPHA:59315 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal phalanx of finger, Abnorm... |
ORPHA:15 |
Tick-Borne Encephalitis |
|
Stiff neck, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Depres... |
ORPHA:297 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Short palm, Bowing of the long bones, Micrognathia, Metatarsus adductus, Osteoporosis... |
OMIM:249420 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Coxa vara, Tibial bowing, Reduced bone mineral density, Iron deficiency anemia, Abnormal bone oss... |
ORPHA:93315 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Decreased circulating total IgM, Abnormal epiphysis morphology,... |
ORPHA:2643 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Spleno... |
OMIM:616100 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Decreased circulating cortisol level, Hyperactivity, Ataxia, Abnormal circulating fatty-acid conc... |
ORPHA:139396 |
Fryns Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Bicornuate uterus, Hypospadias |
ORPHA:2059 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Genu recurvatum, Stiff neck, Anorexia, Elbow flexion contracture, Cho... |
ORPHA:79139 |
Q Fever |
|
Rheumatoid factor positive, Anorexia, Abnormality of the liver, Cholecystitis, Lupus anticoagulan... |
ORPHA:781 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Ataxia, Skin rash, Anorexia, Splenomegaly, Osteolysis, Weight loss, Lymphadenopathy... |
ORPHA:391 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Osteomalacia, Hypocitraturia, Rickets, Ne... |
ORPHA:18 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria, Hypoalbuminemia |
OMIM:614652 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hypertrophic cardiomyopathy, Obesity, Heart murmur |
OMIM:615418 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Ciliary Dyskinesia, Primary, 46 |
|
Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Reduced sperm m... |
OMIM:619436 |
Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Metaphyseal widening, Knee dislocation, Short phalanx of finger,... |
OMIM:615777 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Os... |
OMIM:177170 |
Oculoskeletodental Syndrome |
|
Metaphyseal dysplasia, Hypercalcemia, Nephrocalcinosis, Short 5th finger, Hypocalcemia, Hypoplasi... |
ORPHA:557003 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular septal defect, Aut... |
ORPHA:436252 |
Fanconi Anemia, Complementation Group W |
|
Decreased response to growth hormone stimulation test, Absent thumb, Hypoplasia of the radius, Re... |
OMIM:617784 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Large for gestational age, Palmoplantar hyperkeratosis, Gait ataxia, Clinodactyly of the 5th fing... |
OMIM:280000 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... |
OMIM:616098 |
X-Linked Adrenoleukodystrophy |
|
Neurogenic bladder, Hyperactivity, Aggressive behavior, Increased circulating ACTH level, Impoten... |
ORPHA:43 |
Schinzel-Giedion Syndrome |
|
Micrognathia, Renal cyst, Tibial bowing, Hepatoblastoma, Myeloid leukemia, Micropenis, Streak ova... |
ORPHA:798 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma, Pancreatitis, Hyperlipidemia, ... |
OMIM:232200 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Chronic bronchitis, Situs inversus totalis, Absent ou... |
OMIM:614874 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Renal agenesis, Congenital diaphragmatic hernia, Absent externa... |
OMIM:273395 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... |
ORPHA:169160 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... |
ORPHA:436159 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Calcaneovalgus deformity, Patent foramen ovale, Finger syndactyly, Spin... |
OMIM:256520 |
Ciliary Dyskinesia, Primary, 26 |
|
Recurrent respiratory infections, Situs inversus totalis, Absent outer dynein arms, Bronchiectasi... |
OMIM:615500 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Myelofibrosis, Joint laxity, Inguinal hernia, Hyperactivity, Ventricular septal defect, Eczema, D... |
OMIM:607721 |
Coffin-Siris Syndrome |
|
Joint laxity, Hyperactivity, Hypospadias, Ventricular septal defect, Hepatoblastoma, Aggressive b... |
ORPHA:1465 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent skin infections, Recurrent upper respiratory tract inf... |
OMIM:619752 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Micromelia, Micrognathia, Cryptorchidism, Shor... |
OMIM:224410 |
Monosomy 22 |
|
Finger syndactyly, Aplasia of the thymus, Single transverse palmar crease, Seborrheic dermatitis,... |
ORPHA:96123 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Osteomalacia |
OMIM:600740 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Aspiration pneumonia, Vesicoureteral reflux, Atrial septal def... |
ORPHA:438213 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... |
ORPHA:79124 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Inguinal hernia, Hyperactivity, Ventricular septal defect, Congenital diaphrag... |
OMIM:614294 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... |
ORPHA:2260 |
Behçet Disease |
|
Myositis, Anorexia, Infectious encephalitis, Glomerulopathy, Ataxia, Acne, Retrobulbar optic neur... |
ORPHA:117 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Hyperactivity, Small scrotum, Cryptorchidism, Gait ataxia, Microphallus, Low frustration toleranc... |
OMIM:300486 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal digit morpholog... |
ORPHA:2363 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Recurrent fractures, Abnormal lymph node morphology, Renal... |
ORPHA:97290 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Diabetes mellitus, Hypertriglyceride... |
ORPHA:412 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Failure to thrive in infancy, Aggressive behavior, Chronic kidney disease, Genu valg... |
ORPHA:488627 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Hypospadias, Sparse eyelashes, Sparse eyebrow, Alopecia of scalp, Macroorchidism, Failure to thri... |
OMIM:618874 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria, Megaloblastic anemia |
OMIM:261100 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm... |
ORPHA:85445 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Chronic otitis media, Clinodactyly of the 5th finger,... |
ORPHA:2750 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Hypospadias, Aplasia/Hypoplasia of the sternum, ... |
OMIM:219000 |
Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphadenopathy, Leukocytosis,... |
ORPHA:3392 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Tapered toe, Sparse eyelashes, Sacral dimple, Tapere... |
ORPHA:544488 |
Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Broad femoral neck, Broad ischia, Diaphyseal dysplasia, Sclerosis of skull... |
OMIM:619727 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Inguinal hernia, Allodynia, Anorexia, Decreased body weight |
ORPHA:51890 |
White-Kernohan Syndrome |
|
Joint laxity, Hydroureter, Obesity, Horseshoe kidney, Hip dysplasia, Rectovaginal fistula, Attent... |
OMIM:619426 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short palm, Patent foramen ovale, Hepatomegaly, Atelectasis, Short toe, Renal... |
OMIM:269860 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Abnormal circulating ... |
OMIM:226990 |
Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Rocker bottom foot, Simplified gyral pattern, Arthrogryposis multiplex congenita, Decreased thala... |
OMIM:619072 |
Mucopolysaccharidosis Type 3 |
|
Adenoiditis, Cardiomegaly, Flexion contracture, Reduced bone mineral density, Aspiration pneumoni... |
ORPHA:581 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Mowat-Wilson Syndrome |
|
Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Calcaneovalgus deformity, F... |
ORPHA:2152 |
Fraser Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum,... |
ORPHA:2052 |
Man1B1-Cdg |
|
Broad-based gait, Periventricular heterotopia, 2-3 toe syndactyly, Truncal obesity, Clinodactyly ... |
ORPHA:397941 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Long eyelashes, Broad lateral eyebrow, Neonatal hypoglycemia, Obesity |
OMIM:608624 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Recurrent fractures, Abnorma... |
ORPHA:319487 |
Childhood Absence Epilepsy |
|
Abnormal social behavior, Depression |
ORPHA:64280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath... |
OMIM:619046 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
OMIM:615952 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Failure to thrive, Hypolysinemia, Recurrent fractures, Thrombocytopenia, Splenomega... |
OMIM:222700 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Abnormal drin... |
ORPHA:209905 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Pes planus, Proteinuria, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, Hema... |
OMIM:616901 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Obesit... |
OMIM:250420 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Renal tubular dysfunction, Aminoaciduria, R... |
ORPHA:436271 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria |
OMIM:222100 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Gait imbalance, In... |
ORPHA:411511 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Joint stiffness, Broad phalanges of the hand, Broad metacarpals, Broad metatars... |
OMIM:277600 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Postnatal growth retardation, ... |
ORPHA:254534 |
Ciliary Dyskinesia, Primary, 12 |
|
Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Abnormal central microt... |
OMIM:612650 |
Steinfeld Syndrome |
|
Absent gallbladder, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Hypopl... |
OMIM:184705 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Infec... |
ORPHA:391487 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Lymphadenopat... |
ORPHA:507 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... |
ORPHA:1435 |
Bone Marrow Failure Syndrome 4 |
|
Decreased circulating antibody level, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... |
OMIM:618116 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentrat... |
OMIM:618886 |
Primary Sclerosing Cholangitis |
|
Osteopenia, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm ... |
ORPHA:171 |
Rhabdoid Tumor |
|
Renal neoplasm, Hypercalcemia, Lymphadenopathy, Hematuria, Irritability, Anemia, Weight loss, Neo... |
ORPHA:69077 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, Gait ataxia, T lymphocytopenia, Neutropeni... |
ORPHA:572 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmonary ar... |
ORPHA:140952 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Pedal edema, Increased alpha-g... |
ORPHA:86816 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Lipodystrophy, Myositis, Sinusitis, Skin r... |
OMIM:617591 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Obesity, Fine hair, Overgrowth, Long eyelashes |
OMIM:620250 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Lupus anticoagulant, Hashimoto... |
OMIM:615688 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Failure to thrive, Hepatomegaly, Splenomegaly, Lymphadenopathy,... |
OMIM:609981 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch... |
OMIM:617091 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Increased hepatocellular lipid droplets, Tr... |
OMIM:220110 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Micrognathia, Pericardial effusion, Cryptorchidism,... |
OMIM:618183 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Arachnodactyly, Ataxia, Abnormality of neutrophils, Reduced bone mineral density, Abnormal hip bo... |
ORPHA:2720 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Elevated circu... |
OMIM:613011 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Increased serum pyruvate, Renal insufficiency, Small for gestational age, Akinesia, Hypochromic m... |
OMIM:619147 |
Cousin Syndrome |
|
Micrognathia, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male... |
OMIM:260660 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Obesity, First degree atrioventricular block, Decreased body weight |
ORPHA:589821 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Renal interst... |
ORPHA:91500 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Ves... |
ORPHA:261537 |
Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular... |
ORPHA:411634 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... |
ORPHA:93346 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Flexion contracture, Absence of subcutaneous fat, Keratoconjunctivitis... |
OMIM:601675 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Bicoronal synostosis, Hypospadias, Joint stiffness, Oral-pharyngeal dysphagia, ... |
OMIM:619184 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Hyperactivity, Small for gestational age, Spina bifida, Microgn... |
OMIM:234100 |
Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Hypospadias, Epispadias, Cryptorchidism, Capitate-hamate fusion, Postaxial ... |
OMIM:225500 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria, Megaloblastic anemia |
OMIM:618882 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn... |
OMIM:222470 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis |
ORPHA:2239 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Exercise-... |
OMIM:300559 |
Ciliary Dyskinesia, Primary, 11 |
|
Recurrent respiratory infections, Bronchiectasis, Abnormal central microtubular pair morphology o... |
OMIM:612649 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha... |
OMIM:268305 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In... |
ORPHA:98848 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Viss Syndrome |
|
Chronic gastritis, Micrognathia, Generalized joint laxity, Right ventricular dilatation, Increase... |
OMIM:619472 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Uveitis, Leukopenia, Hypoalbuminemi... |
ORPHA:99826 |
Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Hypoplastic scapulae, Hypoplastic sacrum, Micromelia, Bow... |
OMIM:200600 |
Mixed Connective Tissue Disease |
|
Hemolytic anemia, Pericarditis, Myositis, Skin rash, Autoimmunity, Gastritis, Joint stiffness, He... |
ORPHA:809 |
Farber Disease |
|
Abnormality of the knee, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulm... |
ORPHA:333 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Failure to thrive, Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic ... |
ORPHA:275 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Pes planus, Congenital hip dislocation, Hypoglycemia, Decreased response to growth ho... |
OMIM:616007 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conjunctivitis... |
OMIM:149730 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Acute hepatitis, Stif... |
ORPHA:39812 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microvesicular hepatic steatosis, Hepatic steatosis, Accessory spleen, Microretrognathia, Multipl... |
OMIM:619418 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... |
OMIM:614162 |
Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Bilateral cryptorchidism, Micrognathia, Flexion contracture, Hypoplastic iliac wi... |
OMIM:263650 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, Finger joi... |
OMIM:618493 |
Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Irritability, Self-injurious beha... |
ORPHA:649 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Chronic oral candidiasis, Osteomyelitis, Recurrent skin infecti... |
OMIM:618282 |
Dyskeratosis Congenita, Digenic |
|
Failure to thrive, Abnormal palmar dermatoglyphics, Decreased circulating total IgM, Dysphagia, D... |
OMIM:620040 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Liver kidney microsome type 1 antibody positivity, Granulomatous cholangitis, Abnormal intrahepat... |
ORPHA:562639 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotox... |
ORPHA:79102 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, Th... |
ORPHA:64744 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Hypospadias, Micrognathia, Phimosis,... |
ORPHA:75857 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Micromeli... |
OMIM:614091 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal pulmonary interstitial morphology, Pedal... |
ORPHA:330001 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Aggressive behavior, Obesity, Enuresis nocturna, Attention deficit hyperactivity ... |
OMIM:619680 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Hyperactivity, Congenital hip dislocation, Micrognathia, Cryptorchidism, Lo... |
OMIM:619512 |
Aspergillosis |
|
Osteomyelitis, Sinusitis, Eosinophilia, Pneumonia, Abnormality of the kidney, Keratitis, Hypersen... |
ORPHA:1163 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Joint stiffness, Broad metatarsal, Elbow flexion contracture, Short metatarsal,... |
OMIM:608328 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Hypopla... |
OMIM:311900 |
Ciliary Dyskinesia, Primary, 15 |
|
Recurrent respiratory infections, Chronic bronchitis, Situs inversus totalis, Abnormal axonemal o... |
OMIM:613808 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Broad hal... |
OMIM:620186 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
Neurotrophic Keratopathy |
|
Diabetes mellitus, Allodynia, Corneal scarring |
ORPHA:137596 |
Noonan Syndrome 1 |
|
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Abnormal bl... |
OMIM:163950 |
Ciliary Dyskinesia, Primary, 22 |
|
Recurrent respiratory infections, Dextrocardia, Situs inversus totalis, Bronchiectasis, Absent in... |
OMIM:615444 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Obesity |
ORPHA:2180 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Sandal gap, Recurrent bronchitis, D... |
OMIM:251260 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Emphysema, A... |
OMIM:181000 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Erythroid hypoplasia, Short ... |
OMIM:620072 |
Goodpasture Syndrome |
|
Anti-glomerular basement membrane-antibody positivity, Renal insufficiency, Proteinuria, Glomerul... |
OMIM:233450 |
Prolidase Deficiency |
|
Hepatomegaly, Eczema, Micrognathia, Hyperimidodipeptiduria, Splenomegaly, Recurrent pneumonia, Cr... |
OMIM:170100 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta... |
OMIM:301500 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Spinocerebellar Ataxia With Epilepsy |
|
Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, Focal T2 h... |
ORPHA:254881 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i... |
OMIM:232800 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bifid scrotum, Urinary incontinence, Asplenia, Flexion contracture, Calcaneovalgus deformity, Ves... |
ORPHA:261552 |
Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Progressive gait ataxia, Paroxysmal bursts of l... |
OMIM:105830 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Miss... |
OMIM:206900 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Single transverse palma... |
OMIM:617425 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... |
OMIM:301050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Hyperactivity, Hypospadias, Overlapping toe, Craniosynostosis, Micrognathia, Tapered finger, Cryp... |
OMIM:309590 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Athetosis, Thalamic calcification, Motor tics, Depression |
OMIM:615483 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Truncus Arteriosus |
|
Atrial septal defect, Ventricular septal defect, Anomalous origin of one pulmonary artery from as... |
ORPHA:3384 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... |
ORPHA:653 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy... |
ORPHA:650 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei... |
ORPHA:64753 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Pes cavus, Ketonuria, Lower limb muscle weakness, Microcytic anemia, Limb-girdle muscle weakness,... |
OMIM:251900 |
Tempi Syndrome |
|
Transudative pleural effusion, Abnormality of the kidney, Increased circulating IgG level, Increa... |
ORPHA:284227 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hip contracture, Abnormality of the kidney, Diffuse alveolar hemorrhage, Abnormal lung morphology... |
ORPHA:464321 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion contracture, Pancreatic hypoplasia, Ove... |
OMIM:609069 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Maturity-onset diabetes of the young, Exocrine pancreatic insufficiency |
OMIM:609812 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Decreased circulating IgG level, Brachydactyly, Rhizomelia, Flat capital femoral epip... |
OMIM:271510 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Re... |
OMIM:612444 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... |
ORPHA:79078 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Pes planus, Failure to thrive, Broad-based gait, Eczema, Micrognathia, Aggressive behavior, Abnor... |
ORPHA:369950 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Hyperactivity, Rhizomelia, Iliac crest serration, Hypoplasia... |
ORPHA:239 |
White-Sutton Syndrome |
|
Joint laxity, Ventral hernia, Inguinal hernia, Hyperactivity, Duplicated collecting system, Conge... |
ORPHA:468678 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski... |
ORPHA:33001 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... |
OMIM:608184 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:158061 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... |
ORPHA:228308 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Ataxia, Hepatos... |
OMIM:603553 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat... |
OMIM:610377 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Abno... |
ORPHA:90362 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurrent pneumonia, He... |
OMIM:619750 |
Rett Syndrome |
|
Increased serum pyruvate, Inability to walk, Hyperammonemia, Gait disturbance, Agitation, Increas... |
ORPHA:778 |
Alexander Disease Type I |
|
Ataxia, Cachexia, Abnormal thalamic MRI signal intensity, Dysphagia, Failure to thrive |
ORPHA:363717 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Abnormal heart morphology, Focal T2 hyperintense thalamic lesion, Aspiration pneumoni... |
ORPHA:79264 |
Wolfram Syndrome 2 |
|
Diabetes mellitus, Primary amenorrhea, Decreased circulating antibody level, Oligomenorrhea, Impa... |
OMIM:604928 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171420 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Failure to thrive, Decreased thalamic volume, Dysphagia |
OMIM:613668 |
Chand Syndrome |
|
Curly hair, Imperforate hymen, Hypohidrosis |
ORPHA:1401 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Exercise-induced myoglobinuria, Hyperlordosis, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... |
ORPHA:411629 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal cort... |
OMIM:120330 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Abnormal social behavior, Carcinoid tum... |
ORPHA:805 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Conjugat... |
OMIM:619662 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Joint stiffness, Abnorm... |
ORPHA:245 |
Actinic Prurigo |
|
Cheilitis, Pyoderma, Glomerulonephritis |
OMIM:174770 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Reticulocytosis, Ataxia, Exercise-induced myoglobinuria, E... |
OMIM:300653 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Hepatomegaly, Recurrent fractures, Decreased circulating antibody level, Hand clenching, Overlapp... |
OMIM:606056 |
Arima Syndrome |
|
Hepatic fibrosis, Nephronophthisis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly,... |
OMIM:243910 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu... |
ORPHA:544482 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Pes planus, Broad eyebrow, Lumbar hyperlordosis, Arachnodactyly, Facial hypotonia, ... |
ORPHA:457359 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Decreased HDL cholesterol concentration, Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hy... |
OMIM:267700 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hypergl... |
ORPHA:391673 |
Aspartylglucosaminuria |
|
Joint laxity, Aspartylglucosaminuria, Acne, Kyphosis, Vacuolated lymphocytes, Hypoplastic frontal... |
OMIM:208400 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age... |
ORPHA:93101 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Sandal gap, Proteinuria, Choreoathetosis, Joint hyperflexibi... |
ORPHA:2715 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hemolytic ane... |
OMIM:615846 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypoalbuminemia, Hyperchol... |
OMIM:616267 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Highly arched eyebrow, Retinal telangiectasia, Obesity, Overgrowth |
OMIM:620155 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... |
OMIM:618935 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, Tubulointerstitial nephritis, Hepatic fib... |
OMIM:218330 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Recurrent respiratory infections, Osteomyelitis, Skin rash, Recurrent fractures, Eosi... |
ORPHA:2314 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss, Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Small for gestational age, Aspiration pneumonia |
OMIM:619057 |
Okamoto Syndrome |
|
Omphalocele, Ventricular septal defect, Urinary incontinence, Talipes, Bifid uterus, Splenomegaly... |
ORPHA:2729 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity, Dilated third ventricle, Spastic gait, Tip-toe gait |
OMIM:617296 |
Griscelli Syndrome |
|
Encephalocele, Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatiti... |
ORPHA:381 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Pes planus, Recurrent respiratory infections, Single transverse palmar crease, Aggressive behavio... |
ORPHA:466950 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Skin rash, Autoimmun... |
ORPHA:100026 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Hepatomegaly, Acne, Coxa valga, Flared metaphysis, Truncal obesity, Sho... |
ORPHA:370930 |
Aceruloplasminemia |
|
Refractory anemia, Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decrease... |
ORPHA:48818 |
Rift Valley Fever |
|
Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Hematuria, Increased circulating IgG level, In... |
ORPHA:319251 |
Tubulinopathy-Associated Dysgyria |
|
Ataxia, Attention deficit hyperactivity disorder, Pachygyria, Abnormal thalamus morphology, Agyri... |
ORPHA:467166 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Large for gestational age, Anemia, Aminoaciduria, Bone marrow hypocellular... |
OMIM:614520 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Galloway-Mowat Syndrome |
|
Proteinuria, Camptodactyly of finger, Micrognathia, Hiatus hernia, Abnormality of neuronal migrat... |
ORPHA:2065 |
Atelosteogenesis Type Iii |
|
Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ... |
ORPHA:56305 |
Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Psoriasiform dermatitis, Hypoglycemia, Decreased response to gro... |
OMIM:615577 |
Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Low-molecular-weight proteinuria, Hypophosphatemic rickets, Hypouricemia, Osteoma... |
ORPHA:3337 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micrognathia, Clitoral hypoplasia, Short palm, Micropenis, Duplication of the distal phalanx of h... |
OMIM:180700 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
Legius Syndrome |
|
Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Nephrolithiasis, Ovarian ... |
ORPHA:137605 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal os... |
OMIM:271640 |
Castleman Disease |
|
Myelofibrosis, Renal insufficiency, Generalized lymphadenopathy, Increased circulating interleuki... |
ORPHA:160 |
Congenital Disorder Of Deglycosylation 2 |
|
Ulnar deviation of the hand, Genu recurvatum, Sandal gap, Micrognathia, Dysphagia, Gray matter he... |
OMIM:619775 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Re... |
OMIM:608647 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Hypoglycemia, Chronic pancrea... |
OMIM:232240 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger, Irritability, Short umbilical cord, Dysphagia |
OMIM:618367 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Flared m... |
ORPHA:93352 |
Agel Amyloidosis |
|
Proteinuria, Ataxia, Respiratory tract infection, Stage 5 chronic kidney disease, Depression, Car... |
ORPHA:85448 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... |
OMIM:619767 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Diastasis recti, Portal hypertension, Flexion contracture, Hepatitis, Hypoch... |
ORPHA:440713 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a... |
ORPHA:35858 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, EMG: myopathic abnormal... |
ORPHA:57 |
Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Proteinuria, Micromelia, Ulnar bowing, Madelung deformity, Hematuria, Aplasia/Hypo... |
ORPHA:1765 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Micromelia, Micrognathia, Cryptorchidism, Abnormal p... |
ORPHA:93271 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... |
OMIM:607115 |
Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Si... |
OMIM:617604 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ... |
OMIM:602200 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Short neck, Splenomegaly, Increased variability in muscle fiber diameter, Low ... |
OMIM:611881 |
Monosomy 9Q22.3 |
|
Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Plantar pits,... |
ORPHA:77301 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormal morphology of the radius, Renal insufficiency, Abnormality of the diencephalon, Radial c... |
ORPHA:2165 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia |
OMIM:615453 |
Immunodeficiency 22 |
|
Failure to thrive, Pericarditis, Abscess, Autoimmunity, Recurrent upper respiratory tract infecti... |
OMIM:615758 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Hennekam Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Camptodactyly of finger, Craniosynostosis, E... |
ORPHA:2136 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati... |
ORPHA:94093 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Unsteady gait, Gait ataxia, Nephrotic syndrome,... |
OMIM:254900 |
Mend Syndrome |
|
Microretrognathia, Hyperactivity, Broad hallux, Overlapping toe, Micrognathia, Cryptorchidism, Lo... |
OMIM:300960 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612925 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Anorexia, Portal hypertension... |
ORPHA:824 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Ataxia, Pneumonia, Bronchitis, Elevated circulating alpha-fetoprotei... |
ORPHA:420741 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Pancreatic fibrosis, Ventricular septal defect, Postaxial polydactyly, Preaxial polyd... |
OMIM:615503 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Thyroiditis, Hepatitis, Lymph... |
ORPHA:139402 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Lymphangiectasia, Intestinal |
|
Lymphopenia, Pedal edema, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal ... |
OMIM:152800 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Low anterior hairline, Prominent fingertip pads, Tapered finger, Precocious puberty, ... |
OMIM:619950 |
Kawasaki Disease |
|
Pericarditis, Proteinuria, Abnormal heart valve morphology, Skin rash, Recurrent pharyngitis, Leu... |
ORPHA:2331 |
Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Anorexia, Jaundice, Extrahepatic cholestasis, Lymph... |
ORPHA:1333 |
Diamond-Blackfan Anemia 1 |
|
Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Triphalangeal thumb, Neutropeni... |
OMIM:105650 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Decreased circulating antibody level |
OMIM:618042 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thum... |
OMIM:192350 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Thalamic calcification, Dysmetria, Dysphagia |
OMIM:618317 |
Coasy Protein-Associated Neurodegeneration |
|
Difficulty walking, Abnormal thalamus morphology, Compulsive behaviors |
ORPHA:397725 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
3Q29 Microduplication Syndrome |
|
Toe syndactyly, Sandal gap, Ventricular septal defect, Craniosynostosis, Obesity, Camptodactyly o... |
ORPHA:251038 |
Early Infantile Epileptic Encephalopathy |
|
Episodic ataxia, Hyperactivity, Ventricular septal defect, Precocious puberty, Pachygyria, Choreo... |
ORPHA:1934 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612926 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Pulmonary... |
ORPHA:363618 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Ataxia, Tapered finger, Seborrheic dermatitis, Splenomegaly... |
OMIM:301072 |
Scorpion Envenomation |
|
Bundle branch block, Hyperhidrosis, Prominent U wave, Hyperglycemia, Priapism, Ketonuria, ST segm... |
ORPHA:466677 |
Okur-Chung Neurodevelopmental Syndrome |
|
Inguinal hernia, Failure to thrive, Broad hallux, Ataxia, Single transverse palmar crease, Microg... |
OMIM:617062 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
Interstitial Lung Disease 2 |
|
Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil pr... |
OMIM:178500 |
Toxic Epidermal Necrolysis |
|
Abnormal vagina morphology, Pancreatitis, Weight loss |
ORPHA:537 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a... |
ORPHA:2686 |
Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Chronic pancreatitis, Hand muscle weakness, Congestive heart failure, Fatty re... |
ORPHA:98908 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Hepatome... |
OMIM:615387 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia, Skeletal muscle atrophy, Rhabdomyolysis, Leukopenia, Myopathy, Palpitations... |
OMIM:255125 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Impaired myocardial contractility, Adrenocortical adenoma, Incr... |
ORPHA:681 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Scapular winging, Calf muscle pseudohypertrophy, Proximal muscle weaknes... |
ORPHA:352479 |
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Inability to walk, Decreased thalamic volume |
OMIM:618646 |
Cutis Laxa, Autosomal Dominant 1 |
|
Uterine prolapse |
OMIM:123700 |
Distal Deletion 19P |
|
Long toe, Vaginal hernia, Arachnodactyly, Ventricular septal defect, Decreased circulating antibo... |
ORPHA:96129 |
Good Syndrome |
|
Abnormal leukocyte morphology, Diabetes mellitus, Thrombocytopenia, Thymoma, Decreased circulatin... |
ORPHA:169105 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad... |
OMIM:602875 |
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Abnormality of female external genitalia, Vaginal fistula, Persistent cloaca |
ORPHA:1112 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Ataxia, Single transverse palmar crease, Unsteady gait, Decreased circulating total IgM, Decrease... |
OMIM:300861 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Small for gestational age, Congestive heart failure, Dilated cardiomyopathy, Rhabdomyolysis, Myop... |
OMIM:609015 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia, Arachnodactyly, Micrognathia, Congenital contracture, Talipes equinovarus, Ch... |
OMIM:619036 |
Radial Ray Hypoplasia With Choanal Atresia |
|
Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence |
OMIM:179270 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Ataxi... |
ORPHA:713 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Lipodystrophy, Failure to thrive in infancy, Elevated circulating C-reactive protei... |
OMIM:617099 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis, Obesity, Abnormal granulocyte... |
ORPHA:98907 |
Sézary Syndrome |
|
Hepatomegaly, Abnormal pleura morphology, Abnormal immunoglobulin level, Splenomegaly, Lymphadeno... |
ORPHA:3162 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Ataxia, Erythroid hypoplasia, R... |
OMIM:275350 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas |
OMIM:134610 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
Adams-Oliver Syndrome 1 |
|
Alopecia, Toe syndactyly, Supernumerary nipple, Hypertension, Talipes equinovarus, Pulmonic steno... |
OMIM:100300 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the g... |
OMIM:306955 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metatarsal morphology, Knee osteoarthritis, Flexion contracture, Uveitis, Enthesitis, Ab... |
ORPHA:85408 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu... |
ORPHA:50918 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ... |
ORPHA:368 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Osteoarthritis, Periodontitis, Uterine rupture, Hypospadias, Cryptorc... |
ORPHA:286 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule... |
ORPHA:839 |
Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Congenital diaphragmatic hernia, Adrenal hypoplasia, Maternal di... |
ORPHA:563609 |
Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Single transverse palmar crease, Micrognathia, Coxa valga, Hip dislocatio... |
OMIM:619297 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Hypoglycemia, Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis, Hy... |
ORPHA:134 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Pneumonia, Absent frontal sinuses, Absent outer dynein arms, Atelectasis, Asple... |
OMIM:244400 |
Hellp Syndrome |
|
Back pain, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Ce... |
ORPHA:244242 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Primum atrial septal defect, Polys... |
OMIM:619608 |
Vici Syndrome |
|
Recurrent respiratory infections, Joint stiffness, Decreased circulating IgG2 level, Ureteral atr... |
ORPHA:1493 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Pes planus, Single transverse palmar crease, Aggressive behavior, Obesity, Dysphagia, Self-injuri... |
ORPHA:466943 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Elbow dislocation, Ulnar bowing, S... |
OMIM:171480 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Rhabdomyolysis, Red-brown urine, Cardiomyopathy, Myopathy, Arrhythmia, Myoglobinuria, Hypoketotic... |
ORPHA:228305 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification, Limb ataxia |
OMIM:618824 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Hypospadias, Flexion contracture, Short long bone, ... |
OMIM:619479 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Chronic gast... |
OMIM:301074 |
Fibrochondrogenesis 1 |
|
Omphalocele, Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypop... |
OMIM:228520 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Tapered finger, Elliptocytosis, Abnormal aortic... |
ORPHA:86818 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... |
OMIM:616229 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos... |
OMIM:274150 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Absent radius, Ectopic kidney, Preaxial hand polyd... |
ORPHA:233 |
Pure Mitochondrial Myopathy |
|
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... |
ORPHA:254854 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Recurrent respiratory infections, Renal neoplasm, Atelectasis, Abnormalit... |
ORPHA:538 |
Osteopathia Striata With Cranial Sclerosis |
|
Omphalocele, Atrial septal defect, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Arac... |
OMIM:300373 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Splenomegaly, Leukocyto... |
OMIM:615895 |
Pheochromocytoma |
|
Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ... |
OMIM:171300 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascular resist... |
ORPHA:70591 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309256 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... |
ORPHA:404454 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Absen... |
OMIM:614935 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine... |
OMIM:612924 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Tracheobronchial leiomyomatosis, Proteinuria, Failure to thrive, Glomerular ... |
OMIM:308940 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Hyperglycemia, Annular pancreas, Pancreatic hypoplasia |
OMIM:615710 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Inability to walk, T2 hypointense thalamus, Unsteady gait, Gait ataxia, Dysphagia |
ORPHA:1947 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia, Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glom... |
OMIM:619155 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocellular necrosis, Decreased ... |
OMIM:618278 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Phocomelia, Split hand, Aplasia of the thymus, Foot polydactyly |
ORPHA:3004 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ... |
ORPHA:90038 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Necrotizing enterocolitis, Dicarboxylic... |
OMIM:201475 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Micrognathia, Flexion contracture, Recur... |
OMIM:614098 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Large for gestational age, Tibial bowing, Proportionate tall stature, Spin... |
ORPHA:500095 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Absent respiratory ciliary axoneme radial spokes, Chronic rhinitis, Immotile sperm |
OMIM:242670 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubul... |
ORPHA:228302 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Bronchiectasis, Reduced sperm motility |
OMIM:615434 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Emotional lability, Abnormal social behavior |
ORPHA:309263 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Microvesicular hepatic steat... |
OMIM:613070 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... |
ORPHA:99845 |
1P21.3 Microdeletion Syndrome |
|
Shyness, Micrognathia, Aggressive behavior, Abnormal eating behavior, Obesity, Self-injurious beh... |
ORPHA:293948 |
Becker Muscular Dystrophy |
|
Pes planus, Abnormal urinary color, Elevated circulating creatine kinase concentration, Abnormali... |
ORPHA:98895 |
Netherton Syndrome |
|
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent skin infections, Ecz... |
OMIM:256500 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Hypoglycemia, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated card... |
OMIM:620300 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Ataxia, Oral-pharyngeal dysphagia, Inability to walk, Abnormal thalamic MRI signal intensity, Imp... |
ORPHA:254930 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Hypoglycemic seizures, Hypertrophic cardiomyopathy... |
OMIM:231530 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Cryoglobulinemia, Renal insufficiency, Hepatomegaly, Ataxia, Abnormality of ne... |
ORPHA:33226 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Generalized Arterial Calcification Of Infancy |
|
Adrenal calcification, Cardiomegaly, Nephrocalcinosis, Abnormal calcification of the carpal bones... |
ORPHA:51608 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Neoplasm of the lung, Weight loss, Abnor... |
ORPHA:1332 |
Primary Biliary Cholangitis |
|
Autoimmunity, Portal hypertension, Increased circulating IgA level, Abnormality of the thyroid gl... |
ORPHA:186 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Brachydactyly, Recurrent urinary tract infections, Eczema, Short metatarsal, Re... |
OMIM:617157 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
New-Onset Refractory Status Epilepticus |
|
Abnormal circulating interleukin concentration, Infectious encephalitis, Autoimmunity, Abnormal t... |
ORPHA:363558 |
Familial Hypocalciuric Hypercalcemia |
|
Osteomalacia |
ORPHA:405 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Painless fractures due to injury, Recurrent aspiration pneumonia, Self-mutilation, Nai... |
ORPHA:642 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Elevated circulating C-rea... |
ORPHA:85414 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Broad-based gait, Elevated circulating creatine kinase concentration, Calf muscle ... |
ORPHA:119 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Peroneal muscle atrophy, Compulsive behaviors... |
ORPHA:2388 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Micromelia, Micrognathia, Renal hypoplasia/aplasia,... |
ORPHA:3015 |
Cystic Fibrosis |
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Male infertility, Hepatomegaly, Recurrent bronchopulmonary infections, Recurrent pneumonia, Cor p... |
OMIM:219700 |
Acute Disseminated Encephalomyelitis |
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Viral hepatitis, Anti-myelin oligodendrocyte glycoprotein antibody positivity, Ataxia, Aggressive... |
ORPHA:83597 |
Ophthalmomandibulomelic Dysplasia |
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Radial bowing, Coxa valga, Elbow dislocation, Lateral humeral condyle aplasia, Fibular hypoplasia... |
OMIM:164900 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hypoplasia of the radius, Perineal fistula, Ectrodactyly, Rectovaginal fistula, Oligodactyly |
ORPHA:3016 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... |
OMIM:194380 |
Relapsing Polychondritis |
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Large vessel vasculitis, Uveitis, Conjunctivitis, Chondritis, Glomerulopathy, Alopecia, Hepatitis... |
ORPHA:728 |
Alport Syndrome 2, Autosomal Recessive |
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Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Occipital encephalocele, Calf muscle pseudohypertrophy, Elevated circulating creatine kinase conc... |
ORPHA:370959 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Ketonuria, Small for gestational age, Hypospadias, Hypoglycemia, Micrognathia, Highly arched eyeb... |
OMIM:220111 |
Tyrosinemia, Type I |
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Gastrointestinal hemorrhage, Renal insufficiency, Hypoglycemia, Splenomegaly, Nephrocalcinosis, H... |
OMIM:276700 |
Combined Oxidative Phosphorylation Deficiency 15 |
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Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval, Obesity |
OMIM:614947 |
Riddle Syndrome |
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Decreased circulating IgG level, Ataxia, Pulmonary fibrosis |
OMIM:611943 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
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Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration... |
ORPHA:2364 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne... |
OMIM:300908 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
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Increased circulating antibody level |
OMIM:114065 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
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Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Immunodeficiency 96 |
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Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circ... |
OMIM:619774 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
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Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
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Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Metachromatic Leukodystrophy, Adult Form |
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Emotional lability, Abnormal social behavior, Depression |
ORPHA:309271 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
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Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Glycogen Storage Disease Xi |
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Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas... |
OMIM:612933 |
Monosomy 22Q13.3 |
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Renal dysplasia, Hyperactivity, Recurrent skin infections, Hair-pulling, Obesity, Large hands, Cl... |
ORPHA:48652 |
Aregenerative Anemia |
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Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Lymphadeno... |
ORPHA:101096 |
Retinitis Pigmentosa 74 |
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Obesity |
OMIM:616562 |
Cole Disease |
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Hyperglycemia |
OMIM:615522 |
Glycogen Storage Disease X |
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Myoglobinuria, Renal insufficiency, Rhabdomyolysis, Myopathy |
OMIM:261670 |
Hypouricemia, Renal, 1 |
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Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Hyperlipoproteinemia, Type I |
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Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Pneumocystosis |
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Multiple pulmonary cysts, Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Int... |
ORPHA:723 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Sclerosteosis 1 |
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Overgrowth, Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, ... |
OMIM:269500 |
Chronic Graft Versus Host Disease |
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Fasciitis, Alopecia, Phimosis, Flexion contracture, Xerostomia, Weight loss, Nail dystrophy, Abno... |
ORPHA:99921 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Atrial septal defect,... |
OMIM:250220 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Unilateral lung agenesis, Simplified gyral pattern, Atrial septal defect, Emphysema, Decreased ci... |
ORPHA:500150 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Clinodactyly of the 5th fin... |
OMIM:612474 |
Apolipoprotein C-Ii Deficiency |
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Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Thauvin-Robinet-Faivre Syndrome |
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Renal dysplasia, Pes planus, Inguinal hernia, Transient neutropenia, Ventricular septal defect, R... |
OMIM:617107 |
Combined Oxidative Phosphorylation Defect Type 23 |
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Abnormal thalamic MRI signal intensity, Left ventricular hypertrophy, Hypertrophic cardiomyopathy... |
ORPHA:444013 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
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Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
Pyoderma Gangrenosum |
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Myositis, Pustule, Atrophic scars, Inflammation of the large intestine, Increased circulating ant... |
ORPHA:48104 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating IgG1 level, Autoimmunity, Decreased prealbumin level, Reduced circulating t... |
ORPHA:90363 |
Common Variable Immunodeficiency |
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Hemolytic anemia, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, Auto... |
ORPHA:1572 |
Geleophysic Dysplasia 1 |
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Short palm, Osteopenia, Hepatomegaly, Mitral stenosis, Camptodactyly of finger, Tricuspid stenosi... |
OMIM:231050 |
Glycogen Storage Disease V |
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Dark urine, Exercise-induced rhabdomyolysis, Myoglobinuria, Rhabdomyolysis |
OMIM:232600 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Spondylometaphyseal Dysplasia, Algerian Type |
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Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Myoglobinuria, Autosomal Dominant |
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Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration |
OMIM:160010 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Annular pancreas, Bicornuate uterus, Hypospadias |
OMIM:265380 |
Neuroferritinopathy |
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T2 hypointense thalamus, Abnormal thalamic MRI signal intensity, Difficulty walking, Dysphagia, E... |
ORPHA:157846 |
Osteofibrous Dysplasia, Susceptibility To |
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Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Ureteral duplication, Absent gallbladder, Diabetes mellitus, Failure to thrive, Congenital diaphr... |
OMIM:600001 |
Acheiropodia |
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Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
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Myoglobinuria, Renal insufficiency, Rhabdomyolysis |
OMIM:255110 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
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Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
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Recurrent respiratory infections, Failure to thrive, Psoriasiform dermatitis, Recurrent skin infe... |
OMIM:615508 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Brittle hair, Hypoglycemia, Cholangitis, Ragged-red muscle fibers, Rhabdomyolysis, Lacticaciduria... |
OMIM:124000 |
Aneurysm-Osteoarthritis Syndrome |
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Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod... |
ORPHA:284984 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
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Fusion of the left and right thalami, Flexion contracture, Ventricular septal defect, Accessory s... |
OMIM:619306 |
Cryoglobulinemia, Familial Mixed |
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Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Cr... |
OMIM:123550 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Decreased response t... |
OMIM:619503 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Generaliz... |
OMIM:619183 |
Paroxysmal Cold Hemoglobinuria |
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Abnormal urinary color, Autoimmune hemolytic anemia, Recurrent respiratory infections, Hemoglobin... |
ORPHA:90035 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Skin rash, Elevated circulating C-reactive protein concentration, Antinuclear antibody positivity... |
OMIM:617718 |
Osteopetrosis With Renal Tubular Acidosis |
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Recurrent fractures, Bone marrow hypocellularity, Osteopetrosis, Secondary hyperparathyroidism, F... |
ORPHA:2785 |
Chikungunya |
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Maculopapular exanthema, Skin rash, Joint stiffness, Erythema nodosum, Cervical lymphadenopathy, ... |
ORPHA:324625 |
Myoglobinuria, Recurrent |
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Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Sandhoff Disease, Infantile Form |
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Mitral valve prolapse, Abnormal thalamic MRI signal intensity, Hepatosplenomegaly |
ORPHA:309155 |
Malignant Hyperthermia, Susceptibility To, 1 |
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Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Micromelia, Bowing of the legs, Micrognathia, Knee flexion contracture, Abnormal calcification of... |
OMIM:271665 |
Fanconi Anemia, Complementation Group U |
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Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar... |
OMIM:617247 |
Classical Ehlers-Danlos Syndrome |
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Osteopenia, Pes planus, Phalangeal dislocation, Abnormal foot morphology, Osteoarthritis, General... |
ORPHA:287 |
Ebola Hemorrhagic Fever |
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Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... |
ORPHA:319218 |
Fibular Dimelia-Diplopodia Syndrome |
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Absent tibia |
ORPHA:1757 |
Acromesomelic Dysplasia 2B |
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Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior |
ORPHA:1675 |
Familial Acute Necrotizing Encephalopathy |
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Abnormal thalamus morphology, Gait disturbance |
ORPHA:88619 |
Tibial Hemimelia |
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Absent tibia |
OMIM:275220 |
Granulomatous Disease, Chronic, X-Linked |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:306400 |
Dend Syndrome |
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Clinodactyly of the 4th finger, Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Blau Syndrome |
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Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl... |
ORPHA:90340 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Wa... |
OMIM:300106 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
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Gait ataxia, Dilated cardiomyopathy, Abnormal thalamic MRI signal intensity, Depression |
ORPHA:70595 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... |
ORPHA:93325 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
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Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... |
OMIM:233690 |
Ileal Neuroendocrine Tumor |
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Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Weight loss, Iron deficiency anemi... |
ORPHA:100078 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
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Myoglobinuria, Rhabdomyolysis |
OMIM:602199 |
Acute Generalized Exanthematous Pustulosis |
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Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu... |
ORPHA:293173 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Abnormal mitochondrial shape, Abnormal thalamic MRI signal intensity, Dysphagia |
ORPHA:485421 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Fusion of the left and right thalami, Unsteady gait |
OMIM:617542 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Lacticaciduria |
ORPHA:3008 |
Acute Bilirubin Encephalopathy |
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Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
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Hemolytic anemia, Abnormal thalamic MRI signal intensity, Hypoalbuminemia, Prolonged neonatal jau... |
ORPHA:529808 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Spontaneous hemolytic crises, Ataxia, Conjugated hyperbilirubinemia, Jaundice, Decreased thalamic... |
ORPHA:168577 |
Cog1-Cdg |
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Osteopenia, Rhizomelia, Micrognathia, Coxa valga, Flat acetabular roof, Hepatosplenomegaly, Short... |
ORPHA:263508 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Hemolytic anemia, Skeletal muscle atrophy |
OMIM:612300 |
Coffin-Lowry Syndrome |
|
Uterine prolapse, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
Ulnar Agenesis And Endocardial Fibroelastosis |
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Endocardial fibroelastosis, Hand oligodactyly, Aplasia of the ulna |
OMIM:276822 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
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Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia |
OMIM:615399 |
Malignant Hyperthermia Of Anesthesia |
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Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, High-output congestive heart failure, Abno... |
ORPHA:423 |
Hydranencephaly |
|
Stiff neck, Dilatation of the ventricular cavity, Thalamic edema, Dysgenesis of the thalamus, Atr... |
ORPHA:2177 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria, Hemolytic anemia |
OMIM:266120 |
Carney Triad |
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Anorexia, Mediastinal lymphadenopathy, Adrenal overactivity, Lymphadenopathy, Adrenocortical aden... |
ORPHA:139411 |
Cysticercosis |
|
Stiff neck, Ataxia, Iridocyclitis, Emotional lability, Increased circulating antibody level, Abno... |
ORPHA:1560 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Proteinuria, Abnormal pulmonary interstiti... |
OMIM:614748 |
Malt Lymphoma |
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Recurrent respiratory infections, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, ... |
ORPHA:52417 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Omphalocele, Occipital meningocele, Panhypopituitarism |
OMIM:610828 |
Bickerstaff Brainstem Encephalitis |
|
Ataxia, Pneumonia, Respiratory tract infection, Autoimmune antibody positivity, Abnormal thalamic... |
ORPHA:79138 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Uve... |
ORPHA:509 |
Niemann-Pick Disease Type C |
|
Abnormal social behavior, Low frustration tolerance, Depression |
ORPHA:646 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Pancreatoblastoma |
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Elevated maternal serum alpha-fetoprotein, Jaundice, Weight loss, Abnormal lymph node morphology,... |
ORPHA:677 |
Loeys-Dietz Syndrome 3 |
|
Uterine prolapse, Cystocele |
OMIM:613795 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Breast Cancer |
|
|
OMIM:114480 |
Migraine With Or Without Aura, Susceptibility To, 1 |
|
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OMIM:157300 |