| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... |
OMIM:228300 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... |
OMIM:614837 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased circulating gonadotropin c... |
OMIM:614841 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:616030 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... |
OMIM:614897 |
| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... |
OMIM:229070 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Decreased fertility in fe... |
ORPHA:1916 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... |
ORPHA:168563 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... |
OMIM:619665 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay... |
ORPHA:52901 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Secondary amenorrhea, Hirsutism, Hypergonadotro... |
OMIM:300510 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... |
ORPHA:98797 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen... |
OMIM:308700 |
| Bdv Syndrome |
|
Delayed puberty, Decreased thyroid-stimulating hormone level, Hyperinsulinemia, Reduced TSH respo... |
OMIM:619326 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614842 |
| Delayed Puberty, Self-Limited |
|
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... |
OMIM:619613 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Absence of secondary sex characteristics, Hypoplasia of the ovary, Impotence, Fe... |
ORPHA:432 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... |
OMIM:618117 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Abnormal internal genitalia, Aplasia of... |
OMIM:273250 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Hypopl... |
OMIM:619203 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr... |
OMIM:308750 |
| Cone-Rod Dystrophy 1 |
|
Hypogonadism |
OMIM:600624 |
| Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... |
ORPHA:98798 |
| Premature Ovarian Failure 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Premature ovarian insufficiency, Absent pubic hair, Sec... |
OMIM:612964 |
| X-Linked Intellectual Disability, Van Esch Type |
|
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... |
ORPHA:163976 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Elevated circulating follicle stimulating ... |
OMIM:612310 |
| Leydig Cell Hypoplasia |
|
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... |
ORPHA:755 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Primary amenorrhea, Hypoplasia of the uterus, Hypergonadotropic ... |
OMIM:618078 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:614129 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Decreas... |
OMIM:262600 |
| Testes, Rudimentary |
|
Decreased testicular size, Hypoplastic male external genitalia, Hypergonadotropic hypogonadism |
OMIM:273150 |
| Pituicytoma |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... |
ORPHA:251623 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Decreased circulating luteinizing hormone level, Cryptorchidism, Micropenis, Congenital adrenal h... |
OMIM:202150 |
| Ovarian Dysgenesis 5 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:617690 |
| Ring Chromosome Y Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormal spermatogenesis, Bifid scrotum, Abnormali... |
ORPHA:261529 |
| X-Linked Intellectual Disability, Cilliers Type |
|
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:163971 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... |
ORPHA:90793 |
| Spermatogenic Failure 28 |
|
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... |
OMIM:618086 |
| Partial Chromosome Y Deletion |
|
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... |
ORPHA:1646 |
| Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased circulating follicle stimulating hormone c... |
OMIM:620651 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Streak ovary, Hypoplas... |
OMIM:617565 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:614839 |
| Spermatogenic Failure 77 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:620103 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... |
OMIM:615300 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Abnormal se... |
ORPHA:90796 |
| Spermatogenic Failure 25 |
|
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... |
OMIM:617960 |
| Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:616950 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1180 |
| Spermatogenic Failure 57 |
|
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... |
OMIM:619528 |
| Spermatogenic Failure 30 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism |
OMIM:618110 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... |
ORPHA:251510 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Female infertility, Amen... |
OMIM:617442 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619145 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Decreased testicular size, Sparse body hair, Hypogonadism, Abdominal obesity, Increased circulati... |
OMIM:300869 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrh... |
OMIM:618841 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... |
ORPHA:399805 |
| Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... |
ORPHA:66628 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Pituitary hy... |
ORPHA:179494 |
| Okt4 Epitope Deficiency |
|
Abnormal T cell morphology |
OMIM:613949 |
| Spermatogenic Failure 32 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia |
OMIM:619831 |
| Spermatogenic Failure 44 |
|
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... |
OMIM:619044 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Breast aplasia, Incre... |
OMIM:615363 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... |
OMIM:619761 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... |
OMIM:108420 |
| 49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Primary g... |
ORPHA:261534 |
| Müllerian Aplasia And Hyperandrogenism |
|
High anterior hairline, Frontal balding, Increased serum testosterone level, Facial hirsutism, Ab... |
ORPHA:247768 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hypog... |
OMIM:617872 |
| Kallmann Syndrome |
|
Delayed puberty, Breast hypoplasia, Decreased fertility, Erectile dysfunction, Anterior hypopitui... |
ORPHA:478 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... |
ORPHA:90791 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Reduced circulating... |
ORPHA:2235 |
| Satoyoshi Syndrome |
|
Amenorrhea, Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Abnorm... |
ORPHA:3130 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism |
OMIM:261550 |
| Deafness, Congenital, With Total Albinism |
|
Albinism, Hypogonadism |
OMIM:220900 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Small pituitary gland, Impotence, Abno... |
ORPHA:2232 |
| 46,Xy Sex Reversal 3 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... |
OMIM:612965 |
| Estrogen Resistance Syndrome |
|
Breast hypoplasia, Absence of secondary sex characteristics, Hyperinsulinemia, Abnormal circulati... |
ORPHA:785 |
| Leptin Receptor Deficiency |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... |
OMIM:614963 |
| 49,Xyyyy Syndrome |
|
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... |
ORPHA:99330 |
| 46,Xx Sex Reversal 2 |
|
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... |
OMIM:278850 |
| Boucher-Neuhauser Syndrome |
|
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism |
OMIM:215470 |
| Complete Androgen Insensitivity Syndrome |
|
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abno... |
ORPHA:99429 |
| Spermatogenic Failure 63 |
|
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility |
OMIM:619689 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Prader-Willi syndrome (Type 1) |
|
Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Hypogonadism |
DECIPHER:53 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... |
OMIM:612885 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... |
OMIM:614840 |
| Spermatogenic Failure 48 |
|
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia |
OMIM:619108 |
| Partial Androgen Insensitivity Syndrome |
|
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... |
ORPHA:90797 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... |
OMIM:301077 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... |
OMIM:619834 |
| 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 |
| Spermatogenic Failure 62 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 88 |
|
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia |
OMIM:620547 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... |
ORPHA:399808 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Precocious puberty in ... |
OMIM:202010 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615842 |
| Spermatogenic Failure 35 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... |
OMIM:618341 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia |
OMIM:309120 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level |
OMIM:619009 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of the uterus,... |
ORPHA:3464 |
| Spermatogenic Failure, X-Linked, 6 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... |
OMIM:301101 |
| 46,Xx Gonadal Dysgenesis |
|
Abnormality of secondary sexual hair, Gonadal dysgenesis, Delayed puberty, Premature ovarian insu... |
ORPHA:243 |
| Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatic steatosis, Azoospermia, In... |
OMIM:615703 |
| Spermatogenic Failure 72 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:618153 |
| Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
| Spermatogenic Failure 20 |
|
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Amed Syndrome, Digenic |
|
Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Failure to thrive, Bone marrow hypocellularit... |
OMIM:619151 |
| Johanson-Blizzard Syndrome |
|
Abnormality of the female genitalia, Anemia, Hypospadias, Hypoplasia of penis, Abnormal vagina mo... |
ORPHA:2315 |
| Spermatogenic Failure, X-Linked, 5 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:301099 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Sparse body hair, Hypogonadism, Cryptorchidism, Micropenis |
ORPHA:85274 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy... |
OMIM:277000 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Hypoplasia of the uterus |
OMIM:601076 |
| Premature Ovarian Failure 21 |
|
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:620311 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, P... |
OMIM:233420 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:619095 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... |
OMIM:617576 |
| Spermatogenic Failure 27 |
|
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... |
OMIM:617965 |
| Spastic Paraparesis And Deafness |
|
Hypogonadism |
OMIM:312910 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Testicular Agenesis |
|
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Decreased s... |
ORPHA:325124 |
| Ring Chromosome 12 Syndrome |
|
Breast hypoplasia, Glandular hypospadias, Hirsutism, Dystrophic toenail, Cryptorchidism, Hypothyr... |
ORPHA:1439 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of the uterus, Ectopic ovary, D... |
ORPHA:3109 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:289548 |
| Woodhouse-Sakati Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... |
OMIM:241080 |
| Spermatogenic Failure 65 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... |
OMIM:619712 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Spermatogenic Failure 84 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620409 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Hypospadias, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Obesity, Abnormality of the... |
OMIM:194072 |
| Spermatogenic Failure 70 |
|
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia |
OMIM:619828 |
| Adrenal Hypoplasia, Congenital |
|
Renal salt wasting, Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious... |
OMIM:300200 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Ambiguous genitalia, male, Clitoral hypertrophy, Absence of secondary sex charac... |
ORPHA:168558 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... |
ORPHA:91348 |
| Hypogonadism, Male |
|
Hypospadias, Male hypogonadism, Micropenis, Testicular atrophy, Gynecomastia |
OMIM:241100 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... |
OMIM:615723 |
| Ane Syndrome |
|
Delayed puberty, Decreased serum insulin-like growth factor 1, Decreased response to growth hormo... |
ORPHA:157954 |
| Spermatogenic Failure 22 |
|
Male infertility, Cryptozoospermia, Non-obstructive azoospermia |
OMIM:617706 |
| Spermatogenic Failure 43 |
|
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:619094 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... |
OMIM:617592 |
| Spermatogenic Failure 82 |
|
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... |
OMIM:620353 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Testicular atrophy, Azoospermia |
ORPHA:276183 |
| Spermatogenic Failure 13 |
|
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... |
OMIM:615841 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism |
OMIM:615988 |
| Hemochromatosis, Type 3 |
|
Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Impotence, Increased ... |
OMIM:604250 |
| Frasier Syndrome |
|
Ambiguous genitalia, male, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephro... |
ORPHA:347 |
| Satoyoshi Syndrome |
|
Alopecia universalis, Amenorrhea, Hypoplasia of the uterus, Alopecia |
OMIM:600705 |
| Spermatogenic Failure 75 |
|
Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormone level, Male inf... |
OMIM:619949 |
| Spermatogenic Failure 56 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:619515 |
| Spermatogenic Failure 29 |
|
Male infertility, Immotile sperm, Non-obstructive azoospermia |
OMIM:618091 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... |
ORPHA:98754 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Low posterior hairline, Hypergonadotropic hypogonadism, Abnormality of the hypothala... |
ORPHA:2183 |
| Spastic Paraparesis-Deafness Syndrome |
|
Hypogonadism |
ORPHA:2815 |
| Spermatogenic Failure, X-Linked, 3 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... |
OMIM:301059 |
| Polyembryoma |
|
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... |
ORPHA:180229 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis, Hypergonadotropic hypogonadism |
ORPHA:1014 |
| Hyperprolactinemia |
|
Oligomenorrhea, Increased circulating prolactin concentration, Female infertility, Menorrhagia |
OMIM:615555 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Generalized hypertrichosis, Hypogonadism |
ORPHA:1383 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| 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 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... |
ORPHA:98793 |
| Gonadoblastoma |
|
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... |
ORPHA:206484 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:607080 |
| Spermatogenic Failure 54 |
|
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... |
OMIM:619379 |
| Hemochromatosis, Type 2A |
|
Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Increased circulating iron concentration, Sple... |
OMIM:602390 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Protein-losing enteropathy, Hepatomegaly, Abnormal fallopian tube morphology, Hypocalcemia, Pancr... |
ORPHA:1655 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral follicle count, Secondar... |
OMIM:611548 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... |
ORPHA:177904 |
| Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... |
ORPHA:983 |
| Spermatogenic Failure 40 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... |
OMIM:618664 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Delayed puberty, Decreased circulating gonadotropin concentration, Decreased circulating T4 conce... |
ORPHA:177901 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Spermatogenic Failure 80 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... |
OMIM:620222 |
| Spermatogenic Failure 76 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... |
OMIM:620084 |
| Endometriosis, Susceptibility To, 1 |
|
Dysmenorrhea, Decreased fertility, Endometriosis |
OMIM:131200 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
| Spermatogenic Failure 8 |
|
Oligozoospermia, Cryptozoospermia, Azoospermia |
OMIM:613957 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Acromesomelic Dysplasia 3 |
|
Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated... |
OMIM:609441 |
| Immunodeficiency 21 |
|
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... |
OMIM:614172 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Decreased testicular size, Hypogonadism, Primary amenorrhea, Micropenis |
OMIM:614962 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Highly arched eyebrow, Sparse pubic hair, Female infertility, Am... |
OMIM:110100 |
| Spermatogenic Failure 42 |
|
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... |
OMIM:618745 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Protein-losing enteropathy, Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteine... |
OMIM:235255 |
| Spermatogenic Failure 83 |
|
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... |
OMIM:620354 |
| Spermatogenic Failure 78 |
|
Male infertility, Tapered sperm head, Microcephalic sperm head |
OMIM:620170 |
| Spermatogenic Failure 39 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... |
OMIM:618643 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Hemochromatosis, Type 1 |
|
Increased circulating ferritin concentration, Cirrhosis, Elevated circulating hepatic transaminas... |
OMIM:235200 |
| Spermatogenic Failure 58 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... |
OMIM:619585 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoglycemia, Focal segmental glomerulosclerosis, Hypothyroidism, Nephrotic... |
OMIM:617575 |
| Meier-Gorlin Syndrome 4 |
|
Breast hypoplasia, Cryptorchidism, Failure to thrive |
OMIM:613804 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Abnormality of thyroid physiology, Perineal hypospadias, Corpus cavernosum hypoplasia, Microphall... |
OMIM:615542 |
| Spermatogenic Failure 47 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella |
OMIM:619102 |
| Prader-Willi Syndrome |
|
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypogonadism, Small scro... |
ORPHA:739 |
| Renal And Mullerian Duct Hypoplasia |
|
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... |
OMIM:266810 |
| Bardet-Biedl Syndrome 5 |
|
External genital hypoplasia, Micropenis, Hypogonadism |
OMIM:615983 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Abnormality of the ovary, Hypogonadism |
ORPHA:1875 |
| 46,Xy Sex Reversal 4 |
|
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Hydronephrosis, Ure... |
OMIM:154230 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... |
ORPHA:314478 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Female infertility, Primary amenorrhea |
OMIM:300604 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Decreased fertility, Premature ovarian insufficiency, Lacrimal gland aplasia, Decreased circulati... |
ORPHA:572333 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... |
ORPHA:158057 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... |
OMIM:611102 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Abnormal hair morphology, Long penis, Oligozoospermia, Precocious puberty, Macr... |
ORPHA:3000 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Decreased testicular size, Sparse pubic hair, Sparse axillary hair, Primary amenorrh... |
OMIM:146110 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary amenorrhea, Ambi... |
OMIM:202110 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia |
OMIM:613571 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... |
ORPHA:90795 |
| Ziegler-Huang Syndrome |
|
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... |
OMIM:620501 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... |
OMIM:614324 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility |
OMIM:615081 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Low posterior hairline, Hypospadias, A... |
ORPHA:1772 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... |
ORPHA:753 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... |
ORPHA:8 |
| Familial Hyperprolactinemia |
|
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Oligomenorrhea, Menorrhagia, Amenorrhea |
ORPHA:397685 |
| Xq27.3Q28 Duplication Syndrome |
|
Decreased testicular size, Sparse body hair, Cryptorchidism, Hypogonadism |
ORPHA:261483 |
| Spermatogenic Failure 79 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility |
OMIM:620196 |
| Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated circulating hepatic transaminase concentration, Cryptorchidism, Hypoproteinemia, Jaundice |
OMIM:608093 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Renal insufficiency, Renal cyst |
OMIM:615987 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary, Alopecia |
OMIM:241090 |
| Autosomal Recessive Spastic Paraplegia Type 26 |
|
Premature ovarian insufficiency, Decreased serum testosterone concentration |
ORPHA:101006 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... |
ORPHA:2138 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
| Spermatogenic Failure 41 |
|
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm |
OMIM:618670 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Ectopic kidney, Azoospermia, Bicornuate uterus, Low posterior hairline, Aplasia/hypoplasia of the... |
ORPHA:2578 |
| Androgen Insensitivity, Partial |
|
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... |
OMIM:312300 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... |
OMIM:158330 |
| Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer... |
OMIM:619802 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy |
ORPHA:481 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone circulation, Second... |
OMIM:620548 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Erectile dysfunction, Decreased libido, Infertility, Hypothyroidism, Hypogonadotropic hypogonadis... |
ORPHA:465508 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
| 46,Xx Testicular Difference Of Sex Development |
|
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism |
ORPHA:393 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Meier-Gorlin Syndrome 2 |
|
Breast hypoplasia, Clitoral hypertrophy, Labial hypoplasia, Failure to thrive, Hypoplastic labia ... |
OMIM:613800 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligozoospermia, Cryptozoospermia |
OMIM:258150 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Oocyte arrest at metaphase I, Female infertility |
ORPHA:488191 |
| Spermatogenic Failure 7 |
|
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility |
OMIM:612997 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility, Abnormality of the menstrual cycle |
OMIM:619011 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:619755 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased testicular size, Alopecia of scalp, Hypogonadism, Decreased serum testosterone concentr... |
OMIM:201100 |
| Hypogonadism-Cataract Syndrome |
|
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... |
OMIM:240950 |
| Spermatogenic Failure 86 |
|
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... |
OMIM:620499 |
| Spermatogenic Failure 5 |
|
Male infertility, Macrozoospermia, Multiflagellar spermatozoa |
OMIM:243060 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Decreased serum testosterone concentration, Elevated c... |
OMIM:305400 |
| Meier-Gorlin Syndrome 3 |
|
Breast hypoplasia, Clitoral hypertrophy, Hypospadias, Hypoplastic labia minora, Failure to thrive... |
OMIM:613803 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... |
OMIM:267700 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Frontal balding, Ambiguous genitalia, Abnormal circulating testosterone concentration, Hirsutism,... |
ORPHA:786 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he... |
OMIM:615234 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve... |
ORPHA:226307 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Elevat... |
ORPHA:247585 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Protein-losing enteropathy, Anemia, Hepatomegaly, Cholestasis, Ascites,... |
OMIM:608104 |
| Gordon Holmes Syndrome |
|
Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Primary amenorrhea, Hypogo... |
OMIM:212840 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Premature graying of hair, Delayed puberty, Decreased response to growth hormone stimulation test... |
ORPHA:280679 |
| Immunodeficiency 32B |
|
Hepatomegaly, Anemia, Monocytopenia, Failure to thrive, Neutrophilia, Thrombocytopenia, Splenomeg... |
OMIM:226990 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615269 |
| Deafness, Conductive, With Malformed External Ear |
|
Hypogonadism |
OMIM:221300 |
| Non-Functioning Pituitary Adenoma |
|
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... |
ORPHA:91349 |
| Image Syndrome |
|
Hypospadias, Adrenal hypoplasia, Hydronephrosis, Hypogonadism, Cryptorchidism |
ORPHA:85173 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:617187 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Impaired cortisol response to corticotr... |
OMIM:201810 |
| 48,Xyyy Syndrome |
|
Primary gonadal insufficiency, Male hypogonadism, Azoospermia |
ORPHA:99329 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Meningioma |
|
Enlarged pituitary gland, Amenorrhea, Urinary incontinence, Reduced circulating prolactin concent... |
ORPHA:2495 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele, Nephrolithiasis |
OMIM:301060 |
| Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia |
OMIM:267500 |
| Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Meckel Syndrome 12 |
|
Ureteral hypoplasia, Hypoplasia of the uterus, Renal hypoplasia, Vaginal atresia |
OMIM:616258 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Neoplasm of the pancreas, Hypospadias, Low post... |
ORPHA:2959 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Partial vaginal septum, Dyspareunia, Uterus didelphys, Hydrocolpos, Dysmenorrhea, Abnormal uterin... |
ORPHA:3411 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Breast aplasia, Decreased testicular size, Sparse pubic hair, Elevated circulating luteinizing ho... |
ORPHA:3044 |
| 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 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Spermatogenic Failure 87 |
|
Male infertility, Ruffled acrosome |
OMIM:620500 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Bardet-Biedl Syndrome 6 |
|
External genital hypoplasia, Hypospadias, Renal cyst, Vaginal atresia, Diabetes mellitus |
OMIM:605231 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Adenohypophysitis |
|
Reduced circulating prolactin concentration, Decreased male libido, Hyposthenuria, Pituitary hypo... |
ORPHA:95512 |
| 46,Xy Sex Reversal 5 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal female external genitalia morpho... |
OMIM:613080 |
| Whim Syndrome 1 |
|
Abnormal female external genitalia morphology, Abnormal morphology of female internal genitalia, ... |
OMIM:193670 |
| Panhypophysitis |
|
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, H... |
ORPHA:95513 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Decreased response to growth hormone stimulation test, Long eyelashes, Hypothyroidism, Hypogonadi... |
ORPHA:3363 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Renal Cysts And Diabetes Syndrome |
|
Maturity-onset diabetes of the young, Hypospadias, Unilateral renal agenesis, Pancreatic hypoplas... |
OMIM:137920 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Elevated circulating hepatic transamina... |
OMIM:603553 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Oliver-Mcfarlane Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hypoplasia of penis, Long... |
OMIM:275400 |
| Beemer Lethal Malformation Syndrome |
|
Ambiguous genitalia, Thrombocytopenia |
OMIM:209970 |
| Sheehan Syndrome |
|
Normochromic anemia, Dyspareunia, Impotence, Decreased circulating cortisol level, Sparse axillar... |
ORPHA:91355 |
| Omenn Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... |
OMIM:603554 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Renal salt wasting, Hypoglycemic seizures, Azoospermia, Ketotic hypoglycemia, Decre... |
ORPHA:361 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Breast hypoplasia, Oligozoospermia, Clitoral hypoplasia, Failure to thrive, Sparse hair, Diabetes... |
OMIM:614813 |
| Spermatogenic Failure 51 |
|
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... |
OMIM:619177 |
| Leopard Syndrome 1 |
|
Limited elbow movement, Unilateral renal agenesis, Hypospadias, Hypoplasia of the ovary, Delayed ... |
OMIM:151100 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Renal salt wasting, Adrenogenital syndrome, Hypospadias, Congenital adrenal hyperplasia |
OMIM:201710 |
| Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotu... |
OMIM:618280 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Hirsutism, Precocious puberty, Oligomenorrhea, Alopecia |
OMIM:604931 |
| 46,Xy Sex Reversal 1 |
|
Gonadal dysgenesis, Abnormal female external genitalia morphology, Absence of secondary sex chara... |
OMIM:400044 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Azoospermia, Low posterior hairline, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal ... |
ORPHA:261519 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Premature graying of hair, Decreased response to growth hormone stimulation test, Decreased cirrc... |
OMIM:300845 |
| Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... |
ORPHA:90794 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Hypergonadotropic hypogonadism, Second... |
ORPHA:2410 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic aciduria, Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Homocys... |
OMIM:614857 |
| Xp22.3 Microdeletion Syndrome |
|
Secondary amenorrhea, Polycystic ovaries, Decreased fertility, Hypogonadotropic hypogonadism |
ORPHA:1643 |
| Mccune-Albright Syndrome |
|
Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Hypophosphatemia,... |
ORPHA:562 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... |
ORPHA:2298 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Breast hypoplasia, Long eyelashes, Absent axillary hair, Small scrotum, Shawl scrotum, Cryptorchi... |
OMIM:601353 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Abnormal hair quantity, Abnormal testis morphology, Low posterior hairline, Hypogonadism, Decreas... |
ORPHA:2233 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Elevated circulating hepatic transaminase concentration, Azoospermia... |
ORPHA:300298 |
| Immunodeficiency 24 |
|
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... |
OMIM:615897 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Hydrocele testis, Cleft palate, Thrombocytopenia, Hepatosplenomegaly, Congenital thromboc... |
OMIM:616738 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Decreased circulating ACTH concentration, Decreased ... |
OMIM:613986 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... |
OMIM:400045 |
| Crandall Syndrome |
|
Brittle hair, Hypoplasia of penis, Abnormal testis morphology, Sparse body hair, Hypogonadism, Ap... |
ORPHA:202 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia |
OMIM:247800 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| Craniofrontonasal Syndrome |
|
Breast hypoplasia, Hypospadias, Unilateral breast hypoplasia, Low posterior hairline, Curly hair,... |
OMIM:304110 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hematuria, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, ... |
OMIM:146255 |
| Post-Traumatic Pituitary Deficiency |
|
Abnormality of secondary sexual hair, Delayed puberty, Decreased response to growth hormone stimu... |
ORPHA:95619 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, External genital hypoplasia, Renal cyst, Cryptorchidism |
OMIM:615982 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary agenesis, Decreased circulating A... |
OMIM:620303 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Sp... |
OMIM:615866 |
| 48,Xxyy Syndrome |
|
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... |
ORPHA:10 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Leydig Cell Hypoplasia, Type I |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism |
OMIM:238320 |
| Perrault Syndrome 5 |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:616138 |
| Limb-Mammary Syndrome |
|
Aplasia of the ovary, Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, ... |
ORPHA:69085 |
| Spermatogenic Failure 81 |
|
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility |
OMIM:620277 |
| Meckel Syndrome 14 |
|
Polycystic kidney dysplasia, Aplasia of the uterus, Decreased calvarial ossification, Ambiguous g... |
OMIM:619879 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... |
ORPHA:91 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... |
OMIM:604367 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Elevated circulatin... |
OMIM:201910 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Breast aplasia, Hypoplasia of penis, Hypoplastic nipples, Renal hypoplasia, Obes... |
ORPHA:3138 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Precocious puberty in males, Hyperplasia of the Leydig cells |
ORPHA:2826 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Secondary amenorrhea, Hypergonadotropic hypogonadism, Decreased testicular size... |
ORPHA:3085 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda... |
OMIM:613313 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Liver Disease, Severe Congenital |
|
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Ascites,... |
OMIM:619991 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly... |
OMIM:226300 |
| Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Elevated circulating hepatic transaminase concentr... |
ORPHA:398063 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Ring Chromosome 21 Syndrome |
|
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia |
ORPHA:1445 |
| Nephrotic Syndrome, Type 1 |
|
Glomerular sclerosis, Hypoproteinemia, Hyperlipidemia, Congenital nephrotic syndrome, Hypothyroid... |
OMIM:256300 |
| Bardet-Biedl Syndrome 12 |
|
Hydrometrocolpos, Hydroureter, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic renal dysplasia |
OMIM:615989 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism |
OMIM:615266 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
B lymphocytopenia, T lymphocytopenia |
OMIM:233650 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Breast hypoplasia, Hypoplastic nipples, Abnormality of the endocrine system |
OMIM:129550 |
| Mirage Syndrome |
|
Hyperkalemia, Anemia, Hypospadias, Adrenal hypoplasia, Decreased body weight, Microphallus, Decre... |
OMIM:617053 |
| Isolated Splenogonadal Fusion |
|
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... |
ORPHA:457083 |
| Bardet-Biedl Syndrome 16 |
|
External genital hypoplasia, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Renal insu... |
OMIM:615993 |
| Meier-Gorlin Syndrome 1 |
|
Breast hypoplasia, Clitoral hypertrophy, Hypoplastic labia minora, Long eyelashes, Failure to thr... |
OMIM:224690 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... |
ORPHA:90790 |
| Hydatidiform Mole |
|
Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Oligomenorrhea, Polycy... |
ORPHA:280356 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal tubular epithelial necrosis, Impotence, Elevated circulating creatinine concentration, Acut... |
ORPHA:49041 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Decreased testicular size, Sparse body hair, Type II diabetes mellitus, Hypo... |
ORPHA:2234 |
| Precocious Puberty, Central, 2 |
|
Premature pubarche, Premature thelarche |
OMIM:615346 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Decreased testicular size, Absence of pubertal development, Diabetes mellitus, Primary amenorrhea... |
OMIM:610628 |
| Craniopharyngioma |
|
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... |
ORPHA:54595 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Anterior pituitary hypo... |
ORPHA:464306 |
| 46,Xx Sex Reversal 5 |
|
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level |
OMIM:618901 |
| Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Pelvic kidney, Bicornuate uterus, Renal hypoplasia, Hydronephrosis, Hypopl... |
OMIM:601186 |
| Lessel-Kubisch Syndrome |
|
Premature graying of hair, Renal hypoplasia, Sparse pubic hair, Hypogonadism, Renal insufficiency |
OMIM:618681 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc... |
OMIM:603552 |
| Preeclampsia |
|
Acute kidney injury, Elevated circulating creatinine concentration, Elevated circulating hepatic ... |
ORPHA:275555 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fused cervical vertebrae, Aplasia of the uterus, Tetralogy of Fallot, Thrombocytopenia, Horseshoe... |
ORPHA:3320 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
| Galactokinase Deficiency |
|
Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in... |
ORPHA:79237 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Hypogonadism |
OMIM:615768 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Gonadal dysgenesis, Unilateral renal agenesis, Highly arched eyebrow, Clitoral hypoplasia, Sparse... |
OMIM:618419 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Hypogonadism |
OMIM:254000 |
| H Syndrome |
|
Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased t... |
ORPHA:168569 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Hypogonadism |
ORPHA:2528 |
| Moynahan Syndrome |
|
Alopecia, Hypogonadism, Sparse hair |
ORPHA:2574 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Male pseudohermaphroditism, Hypothyroidism, Ambiguous genitalia, Cryptorchidism, Hyp... |
ORPHA:752 |
| Squalene Synthase Deficiency |
|
Hypospadias, Increased circulating farnesol concentration, Elevated urine mesaconic acid level, B... |
OMIM:618156 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Conductive Deafness-Malformed External Ear Syndrome |
|
Hypogonadism |
ORPHA:3216 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... |
OMIM:201750 |
| Ulnar-Mammary Syndrome |
|
Delayed puberty, Breast hypoplasia, Inverted nipples, Anterior pituitary hypoplasia, Hypoplastic ... |
OMIM:181450 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Biemond Syndrome Type 2 |
|
Delayed puberty, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism |
ORPHA:141333 |
| Pseudovaginal Perineoscrotal Hypospadias |
|
Ambiguous genitalia, male, Abnormal hair morphology, Abnormality of the endocrine system, Bifid s... |
OMIM:264600 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... |
ORPHA:90362 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Abnormal female external genitalia morphology, Hypoplasia of penis, Absent eye... |
ORPHA:920 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism |
OMIM:610539 |
| Renal Hypodysplasia/Aplasia 1 |
|
Proteinuria, Bicornuate uterus, Vaginal atresia, Primary amenorrhea |
OMIM:191830 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Hydroce... |
ORPHA:96181 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Burkitt Lymphoma |
|
Intestinal obstruction, Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, ... |
ORPHA:543 |
| Androgen Insensitivity Syndrome |
|
Female external genitalia in individual with 46,XY karyotype, Blind vagina, Labial hypoplasia, Pr... |
OMIM:300068 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemic seizures, Hypoparathyroidism, Unilateral renal agenesis, Hypocalcemia, Polycystic ki... |
ORPHA:2237 |
| Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Elevated circulati... |
OMIM:619938 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty |
ORPHA:217377 |
| 48,Xxxy Syndrome |
|
Abnormal social behavior, Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular siz... |
ORPHA:96263 |
| Rudiger Syndrome |
|
Ureterovesical stenosis, Ovarian cyst, Bicornuate uterus, Micropenis |
OMIM:268650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Hypospadias, Hyperammonemia, Hypoglycemia, Small for gestational age, Neutropenia |
OMIM:618253 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:619310 |
| 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 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia |
OMIM:620534 |
| Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cryptorchidism, In... |
ORPHA:90321 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... |
OMIM:618433 |
| X-Linked Intellectual Disability, Miles-Carpenter Type |
|
Hypogonadism |
ORPHA:85283 |
| Orthostatic Hypotension 1 |
|
Retrograde ejaculation, High palate, Nocturia, Reduced circulating prolactin concentration |
OMIM:223360 |
| 49,Xxxxy Syndrome |
|
Azoospermia, Hypoplasia of penis, Infertility, Excessive shyness, Decreased testicular size, Type... |
ORPHA:96264 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, External genital hypoplasia, Hypogonadism |
OMIM:615981 |
| Ciliary Dyskinesia, Primary, 50 |
|
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... |
OMIM:620356 |
| Transaldolase Deficiency |
|
Cirrhosis, Abnormal clitoris morphology, Anemia, Abnormal circulating glutamine concentration, In... |
ORPHA:101028 |
| Chromosome 17Q12 Deletion Syndrome |
|
Elevated circulating hepatic transaminase concentration, Unilateral renal agenesis, Aplasia of th... |
OMIM:614527 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Steatorrhea, Elevated circulating hepatic transaminase concentra... |
OMIM:212065 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly, Micropenis, Hydrocele testis |
OMIM:618810 |
| Asherman Syndrome |
|
Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Moebius Syndrome-Axonal Neuropathy-Hypogonadotropic Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:2560 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... |
OMIM:615615 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, H... |
OMIM:615895 |
| Wilson-Turner Syndrome |
|
Cryptorchidism, Thick eyebrow, Hypogonadotropic hypogonadism |
ORPHA:3459 |
| Renal Hypodysplasia/Aplasia 3 |
|
Vesicoureteral reflux, Hydronephrosis, Abnormality of the uterus, Multicystic kidney dysplasia, H... |
OMIM:617805 |
| Beta-Thalassemia |
|
Abnormality of iron homeostasis, Anemia, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenome... |
ORPHA:848 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hepatomegaly, Increased serum bile acid concentration, Portal fibrosis, Elevated circul... |
OMIM:619868 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Hypercalcemia, Thrombocytopenia, Renal... |
ORPHA:2123 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypo... |
OMIM:227650 |
| Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Delayed puberty, Small pituitary gland, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonad... |
OMIM:612702 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Decreased fer... |
ORPHA:1173 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Decreased HDL cholesterol concentration, Decreased glomerular filtratio... |
ORPHA:85450 |
| Classic Galactosemia |
|
Delayed puberty, Premature ovarian insufficiency, Male infertility, Elevated circulating hepatic ... |
ORPHA:79239 |
| Ovarian Dysgenesis 8 |
|
Decreased cirrculating antimullerian hormone circulation, Eunuchoid habitus, Elevated circulating... |
OMIM:618187 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Anemia, Neutropenia |
OMIM:618067 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Secondary amenorrhea, Premature pubarche, Hirsutism |
OMIM:612847 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... |
ORPHA:91354 |
| Becker Nevus Syndrome |
|
Unilateral breast hypoplasia |
OMIM:604919 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen,... |
OMIM:613845 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Clitoral hypertrophy, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus |
OMIM:309801 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis |
OMIM:615597 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
| Vaginal Atresia |
|
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... |
ORPHA:65681 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Elevated circulating hepatic transaminase concentration, Abnormal testis morphol... |
ORPHA:100 |
| Stt3B-Cdg |
|
Failure to thrive, Thrombocytopenia, Small scrotum, Cryptorchidism, Micropenis |
ORPHA:370924 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... |
ORPHA:95699 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
External genital hypoplasia, Hypogonadism, Cryptorchidism |
ORPHA:363741 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia, Lymphopenia |
ORPHA:1116 |
| Dengue Fever |
|
Hepatomegaly, Hypoproteinemia, Ascites, Thrombocytopenia, Leukopenia |
ORPHA:99828 |
| Immunodeficiency 43 |
|
Lung abscess, B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin leve... |
OMIM:241600 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Block vertebrae, V... |
OMIM:271520 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism |
ORPHA:88637 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Delayed puberty, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Tubu... |
ORPHA:79259 |
| Alg12-Cdg |
|
Elevated circulating hepatic transaminase concentration, Hypospadias, B lymphocytopenia, Intestin... |
ORPHA:79324 |
| Polycystic Ovary Syndrome 1 |
|
Hirsutism, Enlarged polycystic ovaries, Oligomenorrhea, Obesity, Amenorrhea |
OMIM:184700 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism |
OMIM:615984 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin... |
OMIM:250790 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulat... |
ORPHA:54251 |
| Chédiak-Higashi Syndrome |
|
Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent... |
ORPHA:167 |
| Glucocorticoid Resistance, Generalized |
|
Increased circulating androstenedione concentration, Increased serum testosterone level, Hirsutis... |
OMIM:615962 |
| Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi... |
OMIM:242900 |
| Fanconi Anemia, Complementation Group E |
|
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thromboc... |
OMIM:600901 |
| Bardet-Biedl Syndrome 8 |
|
Hypospadias, Hypogonadism |
OMIM:615985 |
| 8P11.2 Deletion Syndrome |
|
Azoospermia, Hypoplasia of penis, Spherocytosis, High palate, Abnormality of the hypothalamus-pit... |
ORPHA:251066 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Secondary amenorrhea, Hypergonadotropic hypogonadism, Sparse hair, Polycystic ovaries, Insulin-re... |
OMIM:268020 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... |
OMIM:301106 |
| Renal, Genital, And Middle Ear Anomalies |
|
Vaginal atresia |
OMIM:267400 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia |
OMIM:207731 |
| Lig4 Syndrome |
|
Pancytopenia, Hypothyroidism, Failure to thrive, Acute lymphoblastic leukemia, Thrombocytopenia, ... |
OMIM:606593 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypoketotic hypo... |
ORPHA:26793 |
| Prune Belly Syndrome |
|
Decreased fertility, Hydroureter, Renal insufficiency, Vesicoureteral reflux, Urogenital sinus an... |
ORPHA:2970 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Clitoral hypertrophy, Hyperinsulinemia, Hepatic steatosis, Precocious puber... |
ORPHA:528 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Absence of pubertal development, Hypogonadism |
OMIM:615267 |
| Ciliary Dyskinesia, Primary, 40 |
|
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia |
OMIM:618300 |
| Spermatogenic Failure 85 |
|
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... |
OMIM:620490 |
| Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Hypogonadism |
OMIM:608540 |
| Ménétrier Disease |
|
Hypochromic microcytic anemia, Stomach cancer, Giant hypertrophic gastritis, Hypoproteinemia, Abn... |
ORPHA:2494 |
| 17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Infertility, Hypothyroidism, Male p... |
OMIM:264300 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Elevated circulati... |
ORPHA:79230 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... |
OMIM:618986 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Clitoral hypertrophy, Hyperinsulinemia, Fasting hypoglycemia, Long penis, Small for gestational a... |
OMIM:262190 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, High palate, Interhypothalamic adhesion, Cryptorchidism, Micropenis |
OMIM:618929 |
| Aymé-Gripp Syndrome |
|
Breast hypoplasia, Sparse scalp hair, Long eyelashes, Proteinuria, Cryptorchidism |
ORPHA:1272 |
| Paternal Uniparental Disomy Of Chromosome X |
|
Decreased testicular size, Infertility, Micropenis |
ORPHA:261524 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Renal salt wasting, Abnormal circulating renin, Congenital hypothyroidism, Precocious puberty, De... |
OMIM:614736 |
| Björnstad Syndrome |
|
Alopecia, Hypogonadism, Brittle hair |
ORPHA:123 |
| Bardet-Biedl Syndrome 22 |
|
Hypogonadism |
OMIM:617119 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Failure to thrive, Abdominal adh... |
OMIM:616395 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Galactosemia I |
|
Increased level of galactitol in red blood cells, Decreased liver function, Premature ovarian ins... |
OMIM:230400 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Obesity, Primary amenorrhea |
ORPHA:319675 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Graves disease, Hashimoto thyroiditis, Primary adrenal insufficiency, Hypogon... |
ORPHA:3143 |
| Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Abnormal circulating lipid concentration, Hematuria, Loss of truncal subcutaneous adipose tissue,... |
OMIM:608709 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Hypogonadism |
OMIM:251240 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cryptorchidism, Hypogonadism |
OMIM:601794 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Perianal abscess, Hepatomegaly, Anemia, Erythroid hypoplasia, Monocytosis, High palate, Hypoplasi... |
OMIM:612541 |
| Ovarian Dysgenesis 4 |
|
Decreased serum estradiol, Decreased body weight, Elevated circulating follicle stimulating hormo... |
OMIM:616185 |
| Cortisone Reductase Deficiency 2 |
|
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche |
OMIM:614662 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration, Urinary urgency |
OMIM:609195 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism |
OMIM:612370 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Urinary incontinence, Hirsutism, Dysuria, Abnormality of the ovary, Oligomenorrhea, Menorrhagia, ... |
ORPHA:2795 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope... |
OMIM:615285 |
| Narcolepsy Type 1 |
|
Precocious puberty, Male sexual dysfunction, Nocturia, Female sexual dysfunction |
ORPHA:2073 |
| Cednik Syndrome |
|
Nephrotic syndrome, Proteinuria, Hypogonadism |
ORPHA:66631 |
| Bardet-Biedl Syndrome 1 |
|
Hirsutism, Abnormality of the ovary, Nephrogenic diabetes insipidus, Decreased testicular size, V... |
OMIM:209900 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia, Cryptorchidism, Thiamine-responsive me... |
OMIM:249270 |
| Adult Syndrome |
|
Breast hypoplasia, Alopecia of scalp, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Wide... |
OMIM:103285 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea, Decreased serum es... |
OMIM:604168 |
| Fanconi Anemia, Complementation Group C |
|
Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone mar... |
OMIM:227645 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Elevated circulating C-reactive protein concentr... |
OMIM:308240 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... |
OMIM:619924 |
| 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 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Failure to thrive, Thrombocytopenia, Splenome... |
ORPHA:79312 |
| 2P21 Microdeletion Syndrome |
|
Cystinuria, Nephrolithiasis, Hypogonadism, Long eyelashes |
ORPHA:163693 |
| Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Decreased circulating cortisol le... |
OMIM:600955 |
| Fanconi Anemia, Complementation Group L |
|
Anemia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Bone marrow hypocellu... |
OMIM:614083 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Frontal balding, Cholelithiasis, Hypogonadism |
OMIM:160900 |
| Pmm2-Cdg |
|
Elevated circulating hepatic transaminase concentration, Reduced thyroxin-binding globulin, Peric... |
ORPHA:79318 |
| Duplication Of Urethra |
|
Epispadias, Rectourethral fistula, Clitoral hypertrophy, Urinary incontinence, Penile hypospadias... |
ORPHA:237 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia |
ORPHA:48 |
| Incontinentia Pigmenti |
|
Breast hypoplasia, Nail dystrophy, Breast aplasia, Hypoplastic nipples, Leukocytosis, Eosinophili... |
OMIM:308300 |
| Aromatase Deficiency |
|
Female pseudohermaphroditism, Primary amenorrhea, Ovarian cyst, Hypergonadotropic hypogonadism |
OMIM:613546 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypothyroidism, He... |
OMIM:619013 |
| Developmental Delay, Hypotonia, And Impaired Language |
|
Cryptorchidism, Neutropenia |
OMIM:620012 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
External genital hypoplasia, Hypogonadotropic hypogonadism, Hypopigmentation of hair |
ORPHA:177910 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Lymphopenia |
OMIM:615401 |
| Ciliary Dyskinesia, Primary, 51 |
|
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... |
OMIM:620438 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Delayed puberty, Hypogonadism |
OMIM:615270 |
| Caudal Duplication |
|
Uterus didelphys, Abnormal penis morphology, Ureteral duplication, Cryptorchidism |
ORPHA:1756 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Gabriele-De Vries Syndrome |
|
Breast hypoplasia, Decreased response to growth hormone stimulation test, Hypothyroidism, Sparse ... |
ORPHA:506358 |
| Premature Ovarian Failure 17 |
|
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... |
OMIM:619146 |
| Immunodeficiency 52 |
|
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... |
OMIM:617514 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra... |
ORPHA:1667 |
| Adult Syndrome |
|
Breast hypoplasia, Hypoplastic nipples, Sparse scalp hair, Absent nipple, Fine hair, Alopecia |
ORPHA:978 |
| Congenital Primary Megaureter |
|
Congenital megaureter, Vesicoureteral reflux, Nephrolithiasis, Microscopic hematuria, Hydronephro... |
ORPHA:617 |
| 3-Hydroxyisobutyric Aciduria |
|
Hypogonadotropic hypogonadism |
ORPHA:939 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Atrioventricular canal defect, Fused cervical vertebrae, Anemia, Aplasia of... |
OMIM:274000 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... |
OMIM:618723 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Leukopenia, Splenomeg... |
OMIM:278000 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatic steatosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration,... |
OMIM:619487 |
| Alg6-Cdg |
|
Protein-losing enteropathy, Jaundice, Failure to thrive, Decreased LDL cholesterol concentration,... |
ORPHA:79320 |
| Cofs Syndrome |
|
Hypogonadism |
ORPHA:1466 |
| Diencephalic Syndrome |
|
Cachexia, Abnormality of the hypothalamus-pituitary axis, Decreased body weight, Long penis |
ORPHA:1672 |
| Bloom Syndrome |
|
Azoospermia, Elevated hemoglobin A1c, Type II diabetes mellitus, Hepatic steatosis, Cryptorchidis... |
OMIM:210900 |
| Prolactinoma |
|
Delayed puberty, Erectile dysfunction, Dyspareunia, Impotence, Female hypogonadism, Hypogonadism,... |
ORPHA:2965 |
| Premature Ovarian Failure 1 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
| Temple Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Cryptorchidism, Type I... |
ORPHA:254516 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Gonadal dysgenesis, Unilateral renal agenesis, Synophrys, Precocious puberty, Hypogonadism, Crypt... |
ORPHA:3306 |
| Megalencephaly |
|
Truncal obesity, Macroorchidism, Long penis |
ORPHA:2477 |
| Chromosome Xp11.23-P11.22 Duplication Syndrome |
|
Medial flaring of the eyebrow, Low posterior hairline, Synophrys, Precocious puberty, Excessive s... |
OMIM:300801 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Absence of labia majora, Hypospadias, Broad eyebrow, Hypoplastic labia minora, Hirsutism, Absent ... |
ORPHA:495875 |
| Donohue Syndrome |
|
Clitoral hypertrophy, Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Long peni... |
OMIM:246200 |
| Pituitary Stalk Interruption Syndrome |
|
Delayed puberty, Diabetes insipidus, Hypoplasia of penis, Adrenal hypoplasia, Abnormality of the ... |
ORPHA:95496 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Testicular seminoma, Hypogonadism, Cryptorchidism, Renal insufficiency |
ORPHA:281090 |
| Phocomelia, Schinzel Type |
|
Humeroradial synostosis, Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis |
ORPHA:2879 |
| Immunodeficiency 115 With Autoinflammation |
|
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... |
OMIM:620632 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Elevated circulating hepatic trans... |
ORPHA:264580 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Abnormal sternal ossification, Accessory spleen, Aplasia of the uterus, Ventricular ... |
OMIM:194190 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Unilateral renal agenesis, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypog... |
OMIM:244200 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina, Aplasia of the uterus, Joint h... |
ORPHA:457284 |
| Bardet-Biedl Syndrome 19 |
|
External genital hypoplasia, Renal hypoplasia, Hydronephrosis, Hypogonadism, Patent ductus arteri... |
OMIM:615996 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Reduced social reciprocity |
ORPHA:254531 |
| Familial Congenital Mirror Movements |
|
Hypogonadotropic hypogonadism |
ORPHA:238722 |
| Bone Marrow Failure Syndrome 5 |
|
Nail dystrophy, Testicular atrophy, Hypogonadism |
OMIM:618165 |
| Pituitary Gigantism |
|
Premature pubarche, Increased circulating insulin-like growth factor 1 concentration, Pituitary g... |
ORPHA:99725 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... |
OMIM:616050 |
| Barber-Say Syndrome |
|
Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Failure to thrive, Generalized h... |
ORPHA:1231 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... |
OMIM:607616 |
| Wolfram Syndrome 1 |
|
Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hypothyroidism, Sidero... |
OMIM:222300 |
| Trimethylaminuria |
|
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Trisomy X |
|
Precocious puberty, Premature ovarian insufficiency, Multicystic kidney dysplasia, Secondary amen... |
ORPHA:3375 |
| Spermatogenic Failure 6 |
|
Male infertility, Globozoospermia, Decreased acrosin in sperm head |
OMIM:102530 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Delayed puberty, Small pituitary gland, Central adrenal insufficiency, Hypogonadotropic hypogonad... |
OMIM:612079 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Anemia, Esophageal atresia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticu... |
OMIM:227646 |
| Denys-Drash Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis, Enlarged kidney, Ambiguous genitalia, female, Male... |
OMIM:194080 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Decreased testicular size, Micropenis, Hypogonadotropic hypogonadism |
OMIM:614838 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Genital ulcers, Ileal ulcer, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Colitis |
OMIM:616744 |
| Premature Ovarian Failure 15 |
|
Decreased cirrculating antimullerian hormone circulation, Secondary amenorrhea, Oligomenorrhea, E... |
OMIM:618096 |
| Cystic Echinococcosis |
|
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep... |
ORPHA:400 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Temple Syndrome |
|
Hypertriglyceridemia, Maturity-onset diabetes of the young, Truncal obesity, High palate, Decreas... |
OMIM:616222 |
| Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter, Female infertility |
OMIM:617577 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Abnormal testis morphology, Hypothyroidism, Type I diabetes mellitus, Primary g... |
ORPHA:1227 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypopigmentation of hair,... |
ORPHA:398079 |
| Gapo Syndrome |
|
Breast hypoplasia, Tubulointerstitial fibrosis, Hypoplastic nipples, Sparse eyelashes, Sparse eye... |
OMIM:230740 |
| Precocious Puberty, Central, 1 |
|
Hypothyroidism, Isosexual precocious puberty, Elevated circulating follicle stimulating hormone l... |
OMIM:176400 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Elevated urinary dopamine level, Hyperinsulinemia, Retrograde ejaculation, Nocturia |
ORPHA:230 |
| Tetragametic Chimerism |
|
Clitoral hypertrophy, Ovotestis, Bifid scrotum, Abnormal testis morphology, Abnormality of the ov... |
ORPHA:199310 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:79085 |
| X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
Blind vagina, Penoscrotal hypospadias, Glandular hypospadias, Bifid scrotum, Penile hypospadias, ... |
ORPHA:456328 |
| Matthew-Wood Syndrome |
|
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp... |
ORPHA:2470 |
| Beta-Thalassemia Intermedia |
|
Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy... |
ORPHA:231222 |
| Leishmaniasis |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, P... |
ORPHA:507 |
| Galloway-Mowat Syndrome 6 |
|
Decreased response to growth hormone stimulation test, High palate, Decreased body weight, Focal ... |
OMIM:618347 |
| Steinert Myotonic Dystrophy |
|
Decreased fertility, Decreased response to growth hormone stimulation test, Male hypogonadism, Hy... |
ORPHA:273 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... |
ORPHA:444463 |
| Immunodeficiency 27A |
|
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Weight loss, Enlarged me... |
OMIM:209950 |
| Non-Syndromic Posterior Hypospadias |
|
Abnormality of the endocrine system, Bifid scrotum, Androgen insufficiency, Urethral diverticulum... |
ORPHA:95706 |
| Immunodeficiency 76 |
|
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospadias, Vesicouretera... |
OMIM:301056 |
| Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Bicornuate uterus |
OMIM:615524 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Hypoparathyroidism, Alop... |
ORPHA:3453 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia... |
OMIM:602782 |
| Immunodeficiency 13 |
|
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... |
OMIM:615518 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Ascites, Failure to thrive, Splenomegaly, Hypoalbumine... |
OMIM:608776 |
| Ovarian Hyperstimulation Syndrome |
|
Increased serum testosterone level, Hemorrhagic ovarian cyst, Hirsutism, Enlarged polycystic ovar... |
ORPHA:64739 |
| Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... |
ORPHA:158061 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thro... |
OMIM:598500 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Absent vas deferens, Male infertility, Azoospermia |
OMIM:277180 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Oral leukoplakia, Testicu... |
OMIM:613987 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Premature pubarche, Cryptorchidism |
ORPHA:457205 |
| 46,Xx Sex Reversal 4 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Retractile testis, Penoscrotal hypospadias, Ovotestis, ... |
OMIM:617480 |
| Martsolf Syndrome 2 |
|
Hypogonadotropic hypogonadism |
OMIM:619420 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bicornuate uterus |
OMIM:258320 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Maternal diabetes, Pancreatitis, Hyperuricemia, Se... |
ORPHA:79083 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Elevated circulating C-reactive protei... |
OMIM:619644 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Irregular menstruation, Decreased circulating ACTH concentration, Macronodular adrenal hyperplasi... |
ORPHA:189427 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Anemia, Pancreatitis, Renal tubular dysfunction, Hyperammonemia, Thrombocytopenia, ... |
ORPHA:289916 |
| Nephrotic Syndrome, Type 7 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Nephrotic syndrome, Thrombocytopenia, Proteinuria... |
OMIM:615008 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Decreased testicular size, Primary amenorrhea, Cryptorchidism, Micropenis |
OMIM:614880 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... |
OMIM:614470 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated circulating hepatic transaminase concentration, Hypospadias, Renal tubular acidosis, Hyp... |
OMIM:615471 |
| 46,Xy Sex Reversal 10 |
|
Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic... |
OMIM:616425 |
| Meacham Syndrome |
|
Hydrometrocolpos, Abnormal fallopian tube morphology, Hypoplasia of penis, Abnormal vagina morpho... |
ORPHA:3097 |
| Pontocerebellar Hypoplasia Type 7 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... |
ORPHA:284339 |
| Enterokinase Deficiency |
|
Failure to thrive, Hypoproteinemia |
OMIM:226200 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Amenorrhea, Anterior hypopituitarism, Oligozoospermia, Panhypopituitari... |
ORPHA:91351 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia... |
OMIM:613990 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Anterior pituitary hypoplasia, Hypoglycemia, Decreased testicular size, Central hypothyroidism, E... |
OMIM:616113 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... |
ORPHA:158048 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Aminoaciduria, Hypogonadism, Sparse hair |
OMIM:273400 |
| Glycogen Storage Disease Ib |
|
Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transam... |
OMIM:232220 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... |
ORPHA:75564 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Precocious puberty, Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Ovotestis, Hypospadias, Sex reversal |
OMIM:611812 |
| 46,Xy Ovotesticular Difference Of Sex Development |
|
Epispadias, Abnormal labia morphology, Abnormality of the female genitalia, Hyperpigmented genita... |
ORPHA:325345 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Polyuria, P... |
OMIM:618183 |
| Cornelia De Lange Syndrome 5 |
|
Highly arched eyebrow, Hirsutism, Long eyelashes, Synophrys, Decreased testicular size, Low anter... |
OMIM:300882 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Propionic Acidemia |
|
Increased level of hippuric acid in urine, Anemia, Pancreatitis, Hepatomegaly, Pancytopenia, Hype... |
OMIM:606054 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Ele... |
ORPHA:435660 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Lymphopenia, T lymphocytopenia |
OMIM:618309 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Curly hair, Precocious puberty, Congenital posterior occipital alopecia, Patch... |
ORPHA:79414 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hepatocellular adenoma, Elevated circulating hepatic transaminase concentra... |
ORPHA:79240 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased... |
OMIM:617052 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... |
OMIM:610489 |
| Schimke Immuno-Osseous Dysplasia |
|
Abnormality of thyroid physiology, Anemia, Pancreatitis, Abnormal proportion of naive CD4 T cells... |
ORPHA:1830 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Primary amenorrhea, Hyperglycemia, Obesity, Hypergonadotropic hypogonadism |
OMIM:619737 |
| X-Linked Intellectual Disability, Snyder Type |
|
Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Synophrys, Wide intermamillary dist... |
ORPHA:3063 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Peptic ulcer, Increased red blood cell count, Elevated plasma cell count, I... |
ORPHA:90041 |
| Frasier Syndrome |
|
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn... |
OMIM:136680 |
| Rabson-Mendenhall Syndrome |
|
Premature graying of hair, Clitoral hypertrophy, Increased serum testosterone level, Thick hair, ... |
ORPHA:769 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Decreased liver function, Cholestatic liver disease, Jaundice, Anemia, Hemo... |
ORPHA:540 |
| Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia |
ORPHA:859 |
| Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, ... |
OMIM:135900 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Longitudinal vaginal septum, Renal insufficiency, Vesicoureteral reflux, Bifid scrot... |
OMIM:140000 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Hemolytic-uremic syndrome, Elevated circulating creatine kinase concentration, Elev... |
OMIM:614727 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism |
OMIM:620365 |
| Robinow Syndrome |
|
High anterior hairline, External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypop... |
ORPHA:97360 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism |
OMIM:103900 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Smith-Lemli-Opitz Syndrome |
|
Cholestatic liver disease, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splenomegaly, Smal... |
OMIM:270400 |
| Keratoderma Hereditarium Mutilans |
|
Hypogonadotropic hypogonadism, Alopecia |
ORPHA:494 |
| Hepatoportal Sclerosis |
|
Gastric varix, Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepat... |
ORPHA:64743 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Unilateral breast hypoplasia, Abnormality of thyroid physiology, Hydronephrosis, Hypertrichosis |
OMIM:300968 |
| Culler-Jones Syndrome |
|
Diabetes insipidus, Anterior pituitary hypoplasia, Hypogonadism, Hypopituitarism, Cryptorchidism,... |
OMIM:615849 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hepatitis, Hyp... |
OMIM:304790 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Dystonia 28 |
|
Precocious puberty, Hypothyroidism |
ORPHA:589618 |
| Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated circulating hepatic transaminase concentration, Abnormality of the endocrine system, Cac... |
ORPHA:37042 |
| Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Adrenocorti... |
ORPHA:1501 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic aciduria, Methylmalonic acidemia, Pancreatitis, Hepatomegaly, Hypoglycemia, Hyperam... |
OMIM:251000 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Decreased body weight, Increased blood urea ... |
OMIM:620085 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Flexion contracture, Left ventricular hypertroph... |
OMIM:616733 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Hypoproteinemia, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
| Intellectual Developmental Disorder, Autosomal Recessive 76 |
|
Precocious puberty in females |
OMIM:619931 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Hypoplasia of penis, Decreased testicular size, Thick eyebrow, Sparse hair, Hypogonadism, Small s... |
ORPHA:127 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Osteopetrosis, Stage 3 chronic kidney disease, Anemia, Increased bone mineral densi... |
OMIM:620366 |
| Pearson Marrow-Pancreas Syndrome |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, T... |
OMIM:557000 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia |
OMIM:229050 |
| Alstrom Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... |
OMIM:203800 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ovaries, Insulin-... |
ORPHA:435651 |
| Nephrotic Syndrome, Type 22 |
|
Glomerular sclerosis, Nephrotic range proteinuria, Hypoproteinemia, Nephrotic syndrome, Microscop... |
OMIM:619155 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Delayed puberty, Hypospadias, Decreased testicular size, Hypogonadism, Cryptorchidism, Micropenis |
OMIM:300354 |
| Trichohepatoenteric Syndrome 1 |
|
Cholestasis, Renal cortical microcysts, Bifid uvula, Splenomegaly, Jaundice, Hypospadias, Increas... |
OMIM:222470 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Steatorrhea, Protein-losing enteropathy, Cirrhosis, Hepatomegaly, Lymphangiectasis, Proximal tubu... |
OMIM:602579 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Hypogonadism |
OMIM:302950 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Delayed puberty, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism |
OMIM:147950 |
| Fanconi Anemia |
|
Meckel diverticulum, Tracheoesophageal fistula, Leukopenia, Hypogonadism, Aganglionic megacolon, ... |
ORPHA:84 |
| Ring Chromosome 22 Syndrome |
|
Inappropriate behavior, Thick eyebrow, Azoospermia |
ORPHA:1446 |
| Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Highly arched eyebrow, Hypoplastic nipples, Absent nipple, Hypoplastic areola, Male urethral meat... |
OMIM:616001 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Hypoplasia of penis, Low posterior hairline, Synophrys, Abnormal hair pattern, Hypogonadism, Smal... |
ORPHA:2983 |
| Camurati-Engelmann Disease, Type 2 |
|
Delayed puberty, Hypogonadism |
OMIM:606631 |
| Shwachman-Diamond Syndrome |
|
Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic... |
ORPHA:811 |
| Septopreoptic Holoprosencephaly |
|
Precocious puberty, Central diabetes insipidus, Anterior hypopituitarism |
ORPHA:280195 |
| X-Linked Intellectual Disability, Seemanova Type |
|
Cryptorchidism, Hypogonadism |
ORPHA:85323 |
| X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome |
|
Precocious puberty |
ORPHA:457260 |
| Duplication Of The Pituitary Gland |
|
Abnormal pituitary gland morphology, Decreased body weight, Abnormal hypothalamus morphology, Vol... |
ORPHA:314621 |
| Potocki-Lupski Syndrome |
|
High palate, Hypothyroidism, Failure to thrive, Hypocholesterolemia, Small for gestational age |
OMIM:610883 |
| Mody |
|
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Abnormal circulating C-... |
ORPHA:552 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Anemia, Protein-losing enteropathy, Hepatic arteriovenous malformation,... |
ORPHA:2929 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty |
ORPHA:254525 |
| Drug-Induced Lupus Erythematosus |
|
Anemia, Hematuria, Elevated circulating C-reactive protein concentration, Elevated circulating cr... |
ORPHA:231111 |
| Transaldolase Deficiency |
|
Decreased liver function, Clitoral hypertrophy, Cirrhosis, Anemia, Hepatomegaly, Pancytopenia, Fa... |
OMIM:606003 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Camptobrachydactyly |
|
Septate vagina |
ORPHA:1319 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormality of nail color, High anterior hairline, External genital hypoplasia, Abnormal hair qua... |
ORPHA:3220 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Calcinosis, Premature ovarian insufficiency, Anemia, Hypothyroidism, Hypogonadis... |
ORPHA:221008 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Cleft soft palate, Hypoplasia of the ovary, Leukocytosis, Decreased testicular size, In... |
OMIM:619321 |
| Smith-Kingsmore Syndrome |
|
Large for gestational age, Hypoglycemia, Cryptorchidism, Thrombocytopenia |
OMIM:616638 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia |
ORPHA:3301 |
| Mckusick-Kaufman Syndrome |
|
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... |
OMIM:236700 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... |
OMIM:219080 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... |
OMIM:619846 |
| Pearson Syndrome |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marro... |
ORPHA:699 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid... |
ORPHA:67044 |
| Renal Agenesis |
|
Absent vas deferens, Unilateral renal agenesis, Aplasia/hypoplasia of the uterus, Ureteral agenes... |
ORPHA:411709 |
| Deafness-Hypogonadism Syndrome |
|
Delayed puberty, Abnormal spermatogenesis, Hypergonadotropic hypogonadism |
ORPHA:90646 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... |
ORPHA:231154 |
| Griscelli Syndrome Type 2 |
|
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome... |
ORPHA:79477 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Truncal obesity, High palate, Precocious puberty, Pyloric s... |
ORPHA:96184 |
| Mckusick-Kaufman Syndrome |
|
Hydrometrocolpos, Glandular hypospadias, Urogenital sinus anomaly, Failure to thrive, Hydronephro... |
ORPHA:2473 |
| Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Obesity, Hypoalbuminemia, Increased alpha-globulin, Hypercholest... |
ORPHA:86816 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Cryptorchidism, Hypogonadism, Hypoplasia of penis |
ORPHA:3409 |
| Alström Syndrome |
|
Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati... |
ORPHA:64 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Hirsutism, Adrenal hyperplasia, Diabetes mellitus, Primary hypercortisolism, Increased ... |
OMIM:615830 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Cirrhosis, Intrahepatic cholestasis, Jaundice, Hepatomegaly, Elevated circulating he... |
OMIM:607765 |
| Camptobrachydactyly |
|
Septate vagina, Urinary incontinence |
OMIM:114150 |
| Ovarian Fibroma |
|
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary |
ORPHA:314473 |
| Peters-Plus Syndrome |
|
Bilobate gallbladder, Ureteral duplication, Hypospadias, Decreased body weight, Clitoral hypoplas... |
OMIM:261540 |
| Renal Failure, Progressive, With Hypertension |
|
Elevated circulating creatinine concentration, Microscopic hematuria, Nephritis, Proteinuria, Sta... |
OMIM:161900 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... |
OMIM:612462 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... |
OMIM:613752 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... |
OMIM:613101 |
| Mpi-Cdg |
|
Decreased liver function, Protein-losing enteropathy, Hepatomegaly, Portal hypertension, Hypothyr... |
ORPHA:79319 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diabetes insipidus, Neurogenic bladder, Decreased body weight, Elevated circulating creatine kina... |
ORPHA:96180 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chron... |
ORPHA:98849 |
| Macrocephaly/Autism Syndrome |
|
Large for gestational age, Hepatomegaly, High palate, Obesity, Splenomegaly, Lymphopenia, Penile ... |
OMIM:605309 |
| 46,Xy Sex Reversal 6 |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Hirsutism, Chordee, Sparse axillary hair, ... |
OMIM:613762 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Splenomegal... |
ORPHA:2348 |
| Immunodeficiency 53 |
|
Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, Proteinuria, Reduced renal c... |
OMIM:603278 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Abnormality of the thyroid gland, Diabetes mellitus, Premature ovarian insufficiency, Hypogonadism |
OMIM:609286 |
| Beemer-Ertbruggen Syndrome |
|
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia |
ORPHA:1237 |
| Ear-Patella-Short Stature Syndrome |
|
Epispadias, Clitoral hypertrophy, Hypospadias, Hypoplasia of penis, Breast aplasia, Hypoplastic l... |
ORPHA:2554 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Cryptorchidism, Supernumerary nipple, Small for gestational age, Thin eyebrow |
OMIM:617635 |
| Bloom Syndrome |
|
Esophageal neoplasm, Premature ovarian insufficiency, Male infertility, Acute myeloid leukemia, R... |
ORPHA:125 |
| Bardet-Biedl Syndrome |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Childhood-onset truncal obesity, E... |
ORPHA:110 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity, Cardiomegaly, Hypoalbuminemia, Colitis |
ORPHA:88643 |
| Riboflavin Transporter Deficiency |
|
Hypogonadism, Diabetes insipidus |
ORPHA:97229 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Hyperhomocystinemia, Homocystinuria, Megaloblastic anemia, Failure to thrive, Hypomethi... |
OMIM:250940 |
| Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Anemia, Pelvic kidney, Vesicoureteral refl... |
OMIM:603467 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hepatomegaly, Ac... |
OMIM:151660 |
| Immunodeficiency 95 |
|
Lymphopenia |
OMIM:619773 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis, Hypoproteinemia |
OMIM:137280 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Cryptorchidism, High palate, Abnormal anterior horn cell ... |
OMIM:611890 |
| Cohen Syndrome |
|
Delayed puberty, High, narrow palate, Obesity, Failure to thrive in infancy, Aplasia/Hypoplasia o... |
ORPHA:193 |
| 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Unilateral renal agenesis, Hypospadias, Inguinal hernia, Tracheo... |
ORPHA:96121 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism |
ORPHA:1135 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Glutathione Synthetase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Lumbar Syndrome |
|
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen... |
ORPHA:83628 |
| Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentration, Hepatomegaly... |
OMIM:614376 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Enlarged kidney, Episodic hemolytic anemia, Increased blood urea nitrogen, Obesi... |
ORPHA:251004 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldoster... |
ORPHA:403 |
| X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased... |
ORPHA:300373 |
| Diarrhea 13 |
|
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... |
OMIM:620357 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu... |
OMIM:613673 |
| Lead Poisoning |
|
Abnormal T cell morphology, Delayed puberty, Decreased HDL cholesterol concentration, Anemia, Dec... |
ORPHA:330015 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, H... |
OMIM:608836 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Elbow fl... |
OMIM:276820 |
| Vici Syndrome |
|
High palate, Elevated circulating creatine kinase concentration, Median cleft palate, T lymphocyt... |
OMIM:242840 |
| Toxic Epidermal Necrolysis |
|
Anemia, Abnormality of the urethra, Elevated circulating hepatic transaminase concentration, Abno... |
ORPHA:537 |
| Caudal Duplication Anomaly |
|
Uterus didelphys, Ureteral duplication |
OMIM:607864 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Cohen Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, High, narrow palate, Chil... |
OMIM:216550 |
| Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle |
ORPHA:721 |
| Malaria |
|
Acute kidney injury, Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubi... |
ORPHA:673 |
| Dubowitz Syndrome |
|
Aplastic anemia, Hypospadias, High palate, Submucous cleft hard palate, Acute lymphoblastic leuke... |
OMIM:223370 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Minimal change glomerulonephritis, Hyperlipidemia, Ascites, Focal segmental glomerulosclerosis, M... |
ORPHA:567546 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Esophageal atresia, Rectovaginal fistula, Microgastria, Perineal fistula, Esophagit... |
ORPHA:2538 |
| Adrenoleukodystrophy |
|
Urinary incontinence, Impotence, Urinary bladder sphincter dysfunction, Primary adrenal insuffici... |
OMIM:300100 |
| Meier-Gorlin Syndrome 7 |
|
Clitoral hypertrophy, Hypospadias, Breast aplasia, Vesicoureteral reflux, Decreased body weight, ... |
OMIM:617063 |
| Premature Ovarian Failure 14 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618014 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Uterus didelphys, Hypothyroidism, Hypoplasia of penis |
ORPHA:2491 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, T... |
OMIM:300514 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
| Methylmalonic Aciduria, Cblb Type |
|
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic aciduria, Methylmalonic ... |
OMIM:251110 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Hypogonadism, Small scrotum, Fine hair, Cryptorchidism, Alopecia |
ORPHA:228390 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Acute kidney injury, Arthritis, Synovitis, Nephrotic syndrome, Microscopic hematuria, Proteinuria... |
ORPHA:567544 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty |
ORPHA:293181 |
| Hermansky-Pudlak Syndrome 6 |
|
Absent platelet dense granules, Urinary incontinence, Endometriosis, Neurogenic bladder, Perineal... |
OMIM:614075 |
| Preeclampsia/Eclampsia 1 |
|
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Proteinuria |
OMIM:189800 |
| Al Amyloidosis |
|
Abnormal salivary gland morphology, Anemia, Increased circulating NT-proBNP concentration, Hepato... |
ORPHA:85443 |
| X-Linked Agammaglobulinemia |
|
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Glossoptos... |
ORPHA:47 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Neoplasm of the stomach, Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adr... |
ORPHA:99889 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Renal cyst, Focal segmental glomerulosclerosis, Chronic kidney disease, El... |
OMIM:617056 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of the liver, Hepatomegaly, Thrombocytopenia |
ORPHA:1980 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Anemia, Leukemia, Neutropenia |
OMIM:614082 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Dr... |
OMIM:262000 |
| Omodysplasia 2 |
|
Hypospadias, Labial hypoplasia, Dyspareunia, Clitoral hypoplasia, Uterus didelphys, Cryptorchidis... |
OMIM:164745 |
| Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Nephronophthisis, Tubulointerstitial nephritis, Hypogonadism |
OMIM:616629 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Generalized amin... |
OMIM:251880 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Enlarged kidney, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Focal segmental glomerul... |
OMIM:617303 |
| Richards-Rundle Syndrome |
|
Ketonuria, Hypergonadotropic hypogonadism |
ORPHA:1399 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Gaucher Disease Type 1 |
|
Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Panc... |
ORPHA:77259 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Failure to thrive, Lymph ... |
OMIM:602450 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Anal atresia, Perineal fistula, Rectal atresia, Rectovaginal fistula |
ORPHA:3016 |
| Poems Syndrome |
|
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero... |
ORPHA:2905 |
| Acute Promyelocytic Leukemia |
|
Anemia, Hematuria, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Wei... |
ORPHA:520 |
| Myotonic Dystrophy 2 |
|
Frontal balding, Oligozoospermia, Elevated circulating follicle stimulating hormone level, Type I... |
OMIM:602668 |
| Rin2 Syndrome |
|
Premature ovarian insufficiency, Hirsutism, Sparse scalp hair, Hypergonadotropic hypogonadism, Cr... |
ORPHA:217335 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Pituitary adenoma, Hyperthyroidism, Elevated circulating growth hormone conce... |
OMIM:174800 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Ambiguous genitalia, male, Partial development of the penile shaft, Dysplastic testes, Cryptorchi... |
OMIM:608800 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... |
OMIM:103580 |
| Ollier Disease |
|
Precocious puberty |
ORPHA:296 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased basophil count, Pancytopenia, Splenomegaly, Decreased proportion of memory B cells, Ulc... |
OMIM:618394 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatomegaly, Hypocalcemia, Hepatosplenomegaly, Splenome... |
OMIM:612526 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
3-Methylglutaconic aciduria, Hepatomegaly, Myoglobinuria, Elevated circulating creatine kinase co... |
OMIM:251900 |
| Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Accumulation of lipid droplets in small-bowel enterocytes, Fail... |
OMIM:246700 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectasia, Ectopic ... |
OMIM:235510 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Protein-losing enteropathy, Hyperlipidemia, Failure to thrive, Hypoalbuminemia, Hypercholesterole... |
OMIM:615863 |
| 8Q22.1 Microdeletion Syndrome |
|
Highly arched eyebrow, Sparse eyelashes, Sparse eyebrow, Abnormal hair pattern, Hypogonadism, Cry... |
ORPHA:178303 |
| Ataxia-Telangiectasia |
|
Delayed puberty, Glucose intolerance, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymph... |
OMIM:208900 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Anemia, Hepatomegaly, Pancytopenia, Hyperhomocystinemia, Glossitis, Megal... |
OMIM:277380 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Fused labia minora, Vaginal atresia, Hypoplastic labia majora |
OMIM:207410 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen... |
ORPHA:79095 |
| Premature Ovarian Failure 11 |
|
Secondary amenorrhea, Oligomenorrhea, Elevated circulating follicle stimulating hormone level |
OMIM:616946 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Delayed puberty, Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL choles... |
OMIM:616834 |
| Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Hematuria, Elevated circulating hepatic transaminase concentration, Increased b... |
OMIM:614817 |
| Immunodeficiency 46 |
|
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Failure to thrive, Neutropenia, Absent circulating B cells |
OMIM:613501 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Marburg Hemorrhagic Fever |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Hypokalemia, Lym... |
ORPHA:99826 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Bicornuate uterus, Omphalocele, Proteinuria, Abnormality of the ... |
ORPHA:2143 |
| Immunodeficiency 114, Folate-Responsive |
|
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... |
OMIM:620603 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Autoimmune hemolytic anemia, Villous atrophy, Lymphadenopathy, Pancytopenia, Decreased proportion... |
OMIM:614700 |
| Schaaf-Yang Syndrome |
|
Thick eyebrow, Cryptorchidism, Micropenis, Hypogonadism |
OMIM:615547 |
| Aggressive Systemic Mastocytosis |
|
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc... |
ORPHA:98850 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Abnormal circulating lipid concentration, Anemia, Ectopic kidney, Unilateral renal agenesis, Trun... |
OMIM:616541 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentrati... |
OMIM:269700 |
| Isolated Atp Synthase Deficiency |
|
3-Methylglutaconic aciduria, Hepatomegaly, Hyperalaninemia, Hypothyroidism, Hyperammonemia, Renal... |
ORPHA:254913 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... |
ORPHA:169154 |
| Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Steatorrhea, Anemia, Elevated circulating hepatic transa... |
ORPHA:14 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... |
OMIM:301078 |
| Congenital Enterovirus Infection |
|
Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, Fetal ascites... |
ORPHA:292 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... |
OMIM:157640 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Autoimmune hemolytic anemia, Sclerosing cholangitis, Pancytopenia, Neutropenia in presence of ant... |
ORPHA:572 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholestasis, A... |
OMIM:613658 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Hypospadias, Vesicoureteral reflux, Neonatal hyperbilirubinemia, Recurrent cutaneous abscess form... |
ORPHA:163956 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbumine... |
OMIM:600995 |
| Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
| Optic Pathway Glioma |
|
Precocious puberty |
ORPHA:2086 |
| Tetraamelia Syndrome 1 |
|
Hypoplasia of the fallopian tube, Vaginal atresia, Urethral atresia, Adrenal gland agenesis, Abse... |
OMIM:273395 |
| Dentici-Novelli Neurodevelopmental Syndrome |
|
Precocious puberty |
OMIM:619877 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
External genital hypoplasia, Premature pubarche, Small pituitary gland, Hypopigmentation of hair,... |
ORPHA:398069 |
| Becker Nevus Syndrome |
|
Aplasia/Hypoplasia of the breasts, Hypoplastic labia minora, Supernumerary nipple, Abnormal scrot... |
ORPHA:64755 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Hepatomegaly, Pancreatitis, Polycystic ovaries, Hepatic steatosis |
ORPHA:79084 |
| Greig Cephalopolysyndactyly Syndrome |
|
Cryptorchidism, Hyperglycemia, Hypospadias, Anal atresia |
OMIM:175700 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Abnormal erythrocyte enzyme concentration or activity, Impotence, Reticulocytosis, Unconjugated h... |
ORPHA:447 |
| Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... |
ORPHA:99886 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia, Clitoral hypertrophy, Hepatic steatosis, Elevated circulating hepatic trans... |
OMIM:608594 |
| Carney Complex |
|
Ductal carcinoma in situ, Neoplasm of the stomach, Neoplasm of the pancreas, Increased body weigh... |
ORPHA:1359 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
External genital hypoplasia, Frontal balding, Early balding, Decreased testicular size, Hypogonad... |
ORPHA:3041 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Failure ... |
OMIM:618805 |
| Specific Granule Deficiency 2 |
|
Anemia, Failure to thrive, Thrombocytopenia, Absent neutrophil specific granules, Neutropenia |
OMIM:617475 |
| Leprechaunism |
|
Clitoral hypertrophy, Enlarged kidney, Nephrocalcinosis, Hyperaldosteronism, Megarectum, Postpran... |
ORPHA:508 |
| Peters Plus Syndrome |
|
Ureteral duplication, Hypospadias, Multicystic kidney dysplasia, Anterior hypopituitarism, Clitor... |
ORPHA:709 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Jaundice, Congenital hydrocele, ... |
OMIM:620376 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
| Dyskeratosis Congenita |
|
Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Abnormal testis morphology, Tracheoeso... |
ORPHA:1775 |
| Non-Acquired Panhypopituitarism |
|
Abnormality of secondary sexual hair, Delayed puberty, Decreased response to growth hormone stimu... |
ORPHA:90695 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Infertility, Delayed menarche, Hypothyroidism, Oligomenorrhea, Type II diabetes mellitus, Hypogon... |
ORPHA:412057 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Neonatal hyperbilirubinemia, Hypogonadism, Insulin resistance, Hypoglycemia, T... |
ORPHA:73272 |
| Lesch-Nyhan Syndrome |
|
Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicul... |
OMIM:300322 |
| Addison Disease |
|
Delayed puberty, Decreased circulating cortisol level, Type I diabetes mellitus, Decreased female... |
ORPHA:85138 |
| Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Nephritis, Thrombocytopenia, Renal insufficiency |
ORPHA:3327 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Hypothyroidism, Hypothalamic hamartoma, Cryptorchidism |
OMIM:619908 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... |
ORPHA:534 |
| 19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Sparse or absent eyelashes, Cachexia, Bifid scrotum, Wide intermamillary distance, S... |
ORPHA:217346 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Decreased body weight, Thrombocytopenia |
OMIM:613606 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Precocious puberty, Metrorrhagia, Neoplasm of the scr... |
ORPHA:370348 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACTH co... |
OMIM:615954 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume, Hy... |
ORPHA:2169 |
| Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Decreased body weig... |
OMIM:609053 |
| Noonan Syndrome 12 |
|
Decreased response to growth hormone stimulation test, Thrombocytopenia, Anteriorly placed anus, ... |
OMIM:618624 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Ovarian ... |
OMIM:610475 |
| Werner Syndrome |
|
Hypertriglyceridemia, Elevated circulating alanine aminotransferase concentration, Elevated hemog... |
OMIM:277700 |
| Mogs-Cdg |
|
External genital hypoplasia, Hepatomegaly, Inappropriate antidiuretic hormone secretion, High pal... |
ORPHA:79330 |
| Wilson Disease |
|
Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum ... |
OMIM:277900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Precocious puberty |
OMIM:300958 |
| Oculoskeletodental Syndrome |
|
Protein-losing enteropathy, Hepatomegaly, Hypocalcemia, Hypercalciuria, Hypothyroidism, Mucopolys... |
OMIM:618440 |
| Aicardi-Goutieres Syndrome 3 |
|
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Jaundice, Hemolytic-uremic syndrome, Reticulocytosis, Increased blood urea nitrogen, Microscopic ... |
OMIM:274150 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Gonadal dysgenesis, Clitoral hypertrophy, Hypospadias, Urogenital sinus anomaly, Cryptorchidism, ... |
OMIM:618820 |
| Immunodeficiency 102 |
|
Hepatomegaly, Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, De... |
OMIM:301082 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hyperlipidemia, Reticulocytosis, Increase... |
OMIM:235400 |
| Pituitary Adenoma 1, Multiple Types |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
OMIM:102200 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Juvenile Polyposis Of Infancy |
|
Rectal prolapse, Protein-losing enteropathy, Anemia, High, narrow palate, Freckled genitalia, Cac... |
ORPHA:79076 |
| Agammaglobulinemia, X-Linked |
|
Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho... |
OMIM:300755 |
| 3-Methylglutaconic Aciduria Type 7 |
|
3-Methylglutaconic aciduria, Infection associated neutropenia, Neonatal hypoglycemia, Elevated ci... |
ORPHA:445038 |
| Marinesco-Sjögren Syndrome |
|
External genital hypoplasia, Abnormal circulating creatine kinase concentration, Hypogonadism |
ORPHA:559 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... |
OMIM:155100 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Abnormal circulating follicle-stimulating hormone concentration, Anemia, Congenital hypoparathyro... |
ORPHA:93325 |
| Pediatric-Onset Graves Disease |
|
Increased circulating T4 concentration, Increased circulating free T3, Jaundice, Elevated circula... |
ORPHA:525731 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Decreased liver function, Anemia, Hematuria, Increased mean corpuscular volume, Ascites, Siderobl... |
OMIM:617021 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma... |
OMIM:150550 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Precocious puberty |
OMIM:619356 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Bifid scrotum, Hypogonadotropic hypogonadism, Synophrys, Hypoplasia of penis |
ORPHA:1295 |
| Tsh-Secreting Pituitary Adenoma |
|
Delayed puberty, Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adre... |
ORPHA:91347 |
| Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Anemia, Giant platelets, Hypospadias, Hemolytic-uremic syndrome, Glossoptosis, High palate, Cleft... |
OMIM:611209 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... |
OMIM:612925 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Cushing Disease |
|
Amenorrhea, Decreased eosinophil count, Secondary amenorrhea, Increased urinary cortisol level, I... |
ORPHA:96253 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Congenital diaphragmatic hernia, Periportal fibrosis, Polycystic kidney dysplasia, Bicornuate ute... |
OMIM:263210 |
| Deeah Syndrome |
|
Narrow palate, Decreased response to growth hormone stimulation test, Neonatal hypoglycemia, Hepa... |
OMIM:619004 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Hirsutism, Enlarged polycystic ovaries, Elevated circulating growth hormone conc... |
ORPHA:90301 |
| Primary Membranoproliferative Glomerulonephritis |
|
Acute kidney injury, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Chronic kidney disea... |
ORPHA:54370 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
| Familial Hyperaldosteronism Type Iii |
|
Hypercalciuria, Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive prima... |
ORPHA:251274 |
| Pelger-Huet Anomaly |
|
Giant platelets, Median cleft palate, Hyposegmentation of neutrophil nuclei, Failure to thrive, T... |
OMIM:169400 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Cirrhosis, Intestinal lymphedema, Decreased circulating prealbumin concen... |
ORPHA:90363 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Hypocystinemia, Hypohomocysteinemia, Decreased serum creatinine, Failure to thrive, Bicuspid aort... |
OMIM:617744 |
| Wilson Disease |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegal... |
ORPHA:905 |
| Sepsis In Premature Infants |
|
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein... |
ORPHA:90051 |
| Orofaciodigital Syndrome Type 4 |
|
High, narrow palate, Rectovaginal fistula, Monorchism, Perineal fistula, Anal atresia, Decreased ... |
ORPHA:2753 |
| 1Q41Q42 Microdeletion Syndrome |
|
Hyposegmentation of neutrophil nuclei, Hypergonadotropic hypogonadism, Cleft palate, Submucous cl... |
ORPHA:250999 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Enlarged kidney, Elevated circulating creatinine concentration, Hematuria, Decreased glomerular f... |
ORPHA:730 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... |
OMIM:612926 |
| Silver-Russell Syndrome |
|
Hypospadias, Abnormal vagina morphology, Abnormal male external genitalia morphology, Decreased t... |
ORPHA:813 |
| Methylmalonic Aciduria, Cbla Type |
|
Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, Methylmalonic acidemia, Ane... |
OMIM:251100 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Thrombocytopenia 9 |
|
Thrombocytopenia, Decreased circulating thrombopoietin concentration, Abnormal platelet aggregation |
OMIM:620478 |
| Cowden Syndrome 1 |
|
Thyroiditis, High palate, Furrowed tongue, Hamartomatous polyposis, Hypothyroidism, Varicocele, O... |
OMIM:158350 |
| Peroxisome Biogenesis Disorder 3B |
|
Steatorrhea, Hepatomegaly, Elevated urine trihydroxycholestanoic acid level, Elevated circulating... |
OMIM:266510 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Increased pituitary glycop... |
ORPHA:90674 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Short sperm flagella, Male infertility, Coiled sperm flagella |
OMIM:620197 |
| Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Hypokalemia, Hypocalcemia, Impaired urinary acidification, Nephrolithiasis, ... |
OMIM:179800 |
| Sickle Cell Anemia |
|
Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus... |
ORPHA:232 |
| Lysinuric Protein Intolerance |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Argininuria, Decrease... |
ORPHA:470 |
| Kaufman Oculocerebrofacial Syndrome |
|
Clitoral hypertrophy, High palate, Intestinal malrotation, Failure to thrive, Hypocholesterolemia... |
OMIM:244450 |
| Prader-Willi Syndrome |
|
Hypertriglyceridemia, Delayed puberty, Decreased HDL cholesterol concentration, Small scrotum, Ad... |
OMIM:176270 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Protein-losing enteropathy, Neutropenia |
OMIM:613502 |
| C3 Glomerulopathy |
|
Acute kidney injury, Elevated circulating creatinine concentration, Hematuria, Nephrotic syndrome... |
ORPHA:329918 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Nephritis, Oligozoospermia, Pyelonephritis, Cryptorchidism |
OMIM:314300 |
| Eosinophilic Gastroenteritis |
|
Steatorrhea, Protein-losing enteropathy, Anemia, Elevated circulating C-reactive protein concentr... |
ORPHA:2070 |
| Noonan Syndrome 4 |
|
Large for gestational age, Ureteral duplication, Hydronephrosis, Thrombocytopenia, Cryptorchidism |
OMIM:610733 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia |
OMIM:616176 |
| Refractory Anemia With Excess Blasts |
|
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... |
ORPHA:86839 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Acute kidney injury, Anemia, Hematuria, Hemolytic-uremic syndrome, Anuria, Increased blood urea n... |
OMIM:612924 |
| Werner Syndrome |
|
Premature graying of hair, Decreased fertility, Thyroid carcinoma, Aplasia/Hypoplasia of the test... |
ORPHA:902 |
| Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Aplasia of the uterus, Aortic valve stenosis, Umbilical hernia, ... |
OMIM:601803 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Splenomegaly, Hype... |
OMIM:615387 |
| Primary Sclerosing Cholangitis |
|
Elevated circulating hepatic transaminase concentration, Adenocarcinoma of the large intestine, C... |
ORPHA:171 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Reduced haptoglobin level, Hemolytic-uremic syndrome, Schistocytosis, Moderate proteinuri... |
OMIM:301110 |
| Focal Segmental Glomerulosclerosis 6 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, ... |
OMIM:614131 |
| Igg4-Related Kidney Disease |
|
Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circula... |
ORPHA:449395 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Ehlers-Danlos Syndrome, Classic-Like, 1 |
|
Unilateral renal agenesis, Hiatus hernia, Atrophic scars, Vesicoureteral reflux, Quadricuspid aor... |
OMIM:606408 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hyponatremia, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
| Manitoba Oculotrichoanal Syndrome |
|
Abnormality of the hairline, Vaginal atresia |
OMIM:248450 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Nephrolithiasis, Hyperaldosteronism |
ORPHA:369929 |
| Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Mosaic Trisomy 9 |
|
Hypoplastic female external genitalia, Dextrocardia, Abnormal fallopian tube morphology, Hypoplas... |
ORPHA:99776 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Calcinosis, Anemia, High palate, Cleft palate, Cryptorchidism, Small for gestati... |
ORPHA:221016 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Hypospadias, Normochromic anemia, Acute myeloid l... |
ORPHA:124 |
| Neonatal Lupus Erythematosus |
|
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... |
ORPHA:398124 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Hypogonadism, Sparse hair |
OMIM:616200 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polyuria, Hypercalciuria, Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism |
OMIM:613677 |
| Brucellosis |
|
Lung abscess, Liver abscess, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concen... |
ORPHA:1304 |
| Nephrotic Syndrome, Type 15 |
|
Minimal change glomerulonephritis, Proteinuria, Hypoalbuminemia, Steroid-resistant nephrotic synd... |
OMIM:617609 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Anemia, Glomerular sclerosis, Pancytopenia, Recurrent myoglobinuria, Elevated circulating creatin... |
OMIM:607426 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Abnormal testis morphology, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Aminoac... |
OMIM:603585 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypertriglyceridemia, Decreased H... |
OMIM:256040 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Decreased liver function, 3-Methylglutaconic aciduria, Failure to thrive, Thrombocytopenia, Hypog... |
ORPHA:67048 |
| Nephrotic Syndrome, Type 9 |
|
Glomerular sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Steroid-r... |
OMIM:615573 |
| Hereditary Geniospasm |
|
Abnormal social behavior |
ORPHA:53372 |
| Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria |
OMIM:614652 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level |
OMIM:618856 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Hypothyroidism, Diabetes mellitus, Hypogonadism |
ORPHA:98673 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Hypospadias, Unilateral renal agenesis, Br... |
ORPHA:268261 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Serkal Syndrome |
|
Abnormality of the adrenal glands, Abnormal penis morphology, Hypospadias, Sex reversal |
ORPHA:139466 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:124900 |
| Cog4-Cdg |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplen... |
ORPHA:263501 |
| Alg9-Cdg |
|
Atrial septal defect, Enlarged kidney, Abnormal bone ossification, Hepatomegaly, Abnormal left ve... |
ORPHA:79328 |
| Exstrophy-Epispadias Complex |
|
Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Vesicoureteral reflux, ... |
ORPHA:322 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Generalized lipodystro... |
ORPHA:79086 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Lipoatrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Osteoly... |
ORPHA:280365 |
| Sea-Blue Histiocyte Disease |
|
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... |
OMIM:269600 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Gia... |
OMIM:208085 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Elevated circulating C-react... |
OMIM:613011 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Labial hypoplasia, Hirsutism, Precocious puberty, Cryptorchidism, Micropenis |
OMIM:620073 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Clitoral hypertrophy, Hydroureter, Rectovaginal fistula, Labial hypoplasia, Pelvic kidney, Vesico... |
OMIM:300707 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyelashes, Absent eyebrow, Hypogonadism, Sparse hair, Alopecia |
ORPHA:2316 |
| Moebius Syndrome |
|
Hypogonadotropic hypogonadism, Breast aplasia |
ORPHA:570 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Leukocytosis, Ascites, Hyponatremia, Thrombocytopenia, Hyperglycemi... |
ORPHA:391673 |
| Barth Syndrome |
|
3-Methylglutaconic aciduria, Hypochromic microcytic anemia, Abnormal mitochondrial morphology, Fa... |
OMIM:302060 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hypothalamic hamartoma, Cleft palate, Microglossia, Micropenis |
OMIM:241800 |
| Babesiosis |
|
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Renal insufficiency, Hemolyti... |
ORPHA:108 |
| 46,Xy Sex Reversal 8 |
|
Ambiguous genitalia, Cryptorchidism, Sex reversal, Male pseudohermaphroditism |
OMIM:614279 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Neutropenia, Lymphopenia |
OMIM:620443 |
| Avian Influenza |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Elevated circulatin... |
ORPHA:454836 |
| Congenital Toxoplasmosis |
|
Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Hepatomegaly, Lymphade... |
ORPHA:858 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, High palate, Decreased body weight, Decreased hemoglobin concentration, Thrombocyto... |
OMIM:619005 |
| Pituitary Apoplexy |
|
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... |
ORPHA:95613 |
| Shwachman-Diamond Syndrome 2 |
|
Steatorrhea, Normocytic anemia, Hyperechogenic pancreas, Hepatomegaly, High palate, Failure to th... |
OMIM:617941 |
| Galloway-Mowat Syndrome 8 |
|
Hematuria, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, ... |
OMIM:618349 |
| Chylomicron Retention Disease |
|
Steatorrhea, Elevated circulating hepatic transaminase concentration, Increased hepatocellular li... |
ORPHA:71 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Felty Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... |
ORPHA:47612 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... |
OMIM:101800 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Elevated circulating creatinine concentration, Jaundice, Dextrocardia, Hy... |
OMIM:613095 |
| Tafro Syndrome |
|
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... |
ORPHA:457077 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Steatorrhea, Elevated circulating ... |
OMIM:615558 |
| Bardet-Biedl Syndrome 17 |
|
Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis |
OMIM:615994 |
| Whim Syndrome |
|
Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Cervix cancer, Lymphopenia, Abnormal sm... |
ORPHA:51636 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Nail dystrophy, Ureterocele, Sparse axillary hair, Urethral stenosis, Transverse vaginal septum, ... |
OMIM:604292 |
| Bullous Lichen Planus |
|
Breast aplasia |
ORPHA:33408 |
| Thrombotic Thrombocytopenic Purpura |
|
Acute kidney injury, Hematuria, Reticulocytosis, Decreased serum creatinine, Thrombocytopenia, Pr... |
ORPHA:54057 |
| Immunodeficiency 44 |
|
Lymphopenia |
OMIM:616636 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... |
ORPHA:367 |
| Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia, Exocrine pancreatic insufficiency, Anal atresia |
OMIM:260450 |
| Multiple Myeloma |
|
Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, We... |
ORPHA:29073 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Unilateral rena... |
OMIM:614576 |
| Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
OMIM:615010 |
| Sengers Syndrome |
|
3-Methylglutaconic aciduria, Premature ovarian insufficiency, Thrombocytopenia |
OMIM:212350 |
| Relapsing Fever |
|
Acute kidney injury, Jaundice, Anemia, Hematuria, Elevated circulating C-reactive protein concent... |
ORPHA:91547 |
| Griscelli Syndrome |
|
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Pylor... |
ORPHA:381 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow,... |
ORPHA:3253 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Atrophy of the spinal cord, Obesity, Hypothalamic atrophy |
ORPHA:2822 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Hyperammonemia, Thrombocytopenia, Leukopen... |
ORPHA:27 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd... |
OMIM:249100 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hepatomegaly, Acute pancreatitis, Hyperglycemia, Insulin-resistant diabetes... |
OMIM:608600 |
| Hand-Foot-Genital Syndrome |
|
Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Ureteropelvic junction obstruction, Abnorm... |
ORPHA:2438 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Coach Syndrome 2 |
|
Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic fibrosis, Conge... |
OMIM:619111 |
| Interstitial Cystitis |
|
Abnormal labia morphology, Abnormal vagina morphology, Pollakisuria, Dysuria, Dyspareunia, Urinar... |
ORPHA:37202 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
| Wiskott-Aldrich Syndrome |
|
Acute leukemia, Anemia, Abnormal eosinophil morphology, Abnormal platelet function, Hypoplasia of... |
ORPHA:906 |
| Tyshchenko Syndrome |
|
Cryptorchidism, Low anterior hairline, Thick hair, Supernumerary nipple |
OMIM:615102 |
| Martin-Probst Syndrome |
|
Renal insufficiency, Pancytopenia, Hypoplastic nipples, Bifid scrotum, Wide intermamillary distan... |
OMIM:300519 |
| Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Biliary cirrhosis, Ascites, S... |
ORPHA:186 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Increased urinary potassium, Glucocortoco... |
ORPHA:231580 |
| Trichothiodystrophy |
|
Gonadal dysgenesis, High, narrow palate, Anemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:33364 |
| Systemic Lupus Erythematosus 17 |
|
Thrombocytopenia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia |
OMIM:301080 |
| Gapo Syndrome |
|
Oligozoospermia, Nephrolithiasis, Sparse eyelashes, Sparse eyebrow, Dysmenorrhea, Hypogonadism, A... |
ORPHA:2067 |
| Cach Syndrome |
|
Gonadal dysgenesis, Premature ovarian insufficiency, T2 hypointense thalamus, Secondary amenorrhe... |
ORPHA:135 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Villous atrophy, Anemia, Anoperineal fistula, Elevated circulating C-reactive pro... |
OMIM:619381 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal hyperte... |
OMIM:620005 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Unilateral renal agenesis, Hyperhomocystinemia, Glossitis, Megaloblastic anemia, Elevated circula... |
ORPHA:79284 |
| Thyrocerebroretinal Syndrome |
|
Goiter, Nephritis, Thrombocytopenia |
OMIM:274240 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Neutropenia, High palate, Failure to thrive, Bone marrow hypoc... |
OMIM:614520 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Nail dystrophy, Decreased response to growth hormone stimulation test, Decreased circulating ACTH... |
ORPHA:293978 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Hypospadias, Hypocalcemia, Hyperbilirubinemia, Cleft palate, Thrombocytopenia, Hydronephr... |
ORPHA:163979 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Monocytosis, B lymphocytopenia, Leukocytosis, Inflammation of the large intestine, Neutrophilia, ... |
OMIM:619281 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, 3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase ... |
OMIM:618329 |
| Hypohidrotic Ectodermal Dysplasia |
|
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Nephrotic syndro... |
ORPHA:238468 |
| Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice, Maternal diabetes |
ORPHA:464370 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Pgm3-Cdg |
|
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... |
ORPHA:443811 |
| Congenital Rubella Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Type I diabetes mellitus |
ORPHA:290 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Glossitis, Megaloblastic anemia, Abnormal h... |
ORPHA:35858 |
| Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Rickets, Glycosuria, Hyperphosphaturia, Elevated circulating cr... |
OMIM:615605 |
| Cystinosis, Nephropathic |
|
Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Renal Fanconi syndrome, Hypop... |
OMIM:219800 |
| Waardenburg Syndrome, Type 4C |
|
Premature graying of hair, Lacrimal gland hypoplasia, White forelock, White eyelashes, Hypogonadi... |
OMIM:613266 |
| Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transamin... |
OMIM:260400 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... |
OMIM:617243 |
| Proteus-Like Syndrome |
|
Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland, Splenomegaly |
ORPHA:2969 |
| Persistent Müllerian Duct Syndrome |
|
Cryptorchidism, Male pseudohermaphroditism |
ORPHA:2856 |
| Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
| Hydrolethalus Syndrome 1 |
|
Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology, Bifid uterus, Hydronephrosis |
OMIM:236680 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... |
ORPHA:486 |
| 19P13.3 Microduplication Syndrome |
|
Precocious puberty, Unilateral cryptorchidism |
ORPHA:447980 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis, Elevated circulat... |
OMIM:617093 |
| Alg1-Cdg |
|
Decreased liver function, Protein-losing enteropathy, Nephrotic syndrome, Hypoalbuminemia, Renal ... |
ORPHA:79327 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Acute kidney injury, Methylmalonic acidemia, Hemolytic-uremic syndrome, Hematuria, Hepatomegaly, ... |
OMIM:277400 |
| Apert Syndrome |
|
Hydronephrosis, Vaginal atresia, Cryptorchidism |
OMIM:101200 |
| Fryns Microphthalmia Syndrome |
|
Unicornuate uterus |
OMIM:600776 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... |
OMIM:617780 |
| Nephronophthisis 2 |
|
Hyperkalemia, Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Elevated c... |
OMIM:602088 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Clitoral hypertrophy, External genital hypoplasia, Ovotestis, Hypospadias, ... |
OMIM:610644 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... |
OMIM:603909 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Thrombocytopenia |
OMIM:616913 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal spinal cord morphology, Abnormality of the adrenal glands, Abnormal hypothalamus morphology |
ORPHA:68 |
| Rhabdoid Tumor |
|
Hematuria, Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia, Weight loss, Neoplasm of the... |
ORPHA:69077 |
| Von Willebrand Disease, Type 2 |
|
Menorrhagia, Thrombocytopenia |
OMIM:613554 |
| Atelis Syndrome 1 |
|
Anemia, High palate, Hypothyroidism, Thrombocytopenia, Leukopenia |
OMIM:620184 |
| Glycogen Storage Disease Ic |
|
Delayed puberty, Xanthelasma, Hepatomegaly, Hematuria, Decreased glomerular filtration rate, Chro... |
OMIM:232240 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Atrial septal defect, Carpal osteolysis, Osteolysis involving bones of the lower limb... |
ORPHA:371428 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Cryptorchidism, Supernumerary nipple, Hypospadias |
OMIM:618109 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Failure to thrive, Enlarged t... |
OMIM:308230 |
| Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... |
ORPHA:50918 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Cachexia, Esophageal varix, H... |
ORPHA:2072 |
| Lathosterolosis |
|
Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, High palate, Fa... |
ORPHA:46059 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Aplastic anemia, Pancytopenia, Failure to thrive, Bone marrow hypocellularity, Thrombocytopenia, ... |
OMIM:613989 |
| Basilicata-Akhtar Syndrome |
|
Precocious puberty |
OMIM:301032 |
| Renal Tubular Acidosis, Proximal |
|
Rickets, Hypercalciuria, Proximal renal tubular acidosis, Osteomalacia, Elevated circulating crea... |
OMIM:179830 |
| Transcobalamin Ii Deficiency |
|
Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia,... |
OMIM:275350 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency, Hydrometrocolpo... |
ORPHA:672 |
| Short Syndrome |
|
Hyperglycemia, Ovarian cyst, Insulin resistance, Glucose intolerance, Small for gestational age, ... |
OMIM:269880 |
| Atypical Hemolytic Uremic Syndrome |
|
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia |
ORPHA:2134 |
| Fraser Syndrome 1 |
|
Clitoral hypertrophy, Hypospadias, Absent eyelashes, Bicornuate uterus, Absent eyebrow, Extension... |
OMIM:219000 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... |
OMIM:610333 |
| Acrodysostosis |
|
Abnormal female external genitalia morphology, Cryptorchidism, Irregular menstruation, Hypogonadism |
ORPHA:950 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Delayed puberty, Anemia, Anal fissure, Decreased circulating carnitine concentration, Esophageal ... |
ORPHA:89842 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Ureterocele, Sparse axillary hair, Sparse hair, Transverse vaginal septum, Decreased response to ... |
OMIM:129900 |
| Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia |
ORPHA:517 |
| Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... |
OMIM:133180 |
| Hardikar Syndrome |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Bilateral clef... |
OMIM:301068 |
| Oeis Complex |
|
Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ... |
OMIM:258040 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Hydronephrosis, Thrombocy... |
OMIM:616737 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Elevated circulating hepatic transaminase concentra... |
ORPHA:182050 |
| Generalized Pustular Psoriasis |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... |
ORPHA:247353 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:99228 |
| Monosomy X |
|
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:99226 |
| 19P13.12 Microdeletion Syndrome |
|
Hypospadias, Synophrys, Precocious puberty, Hypothyroidism, Generalized hirsutism, Cryptorchidism |
ORPHA:254346 |
| Turner Syndrome |
|
Delayed puberty, Cholestatic liver disease, Elevated circulating hepatic transaminase concentrati... |
ORPHA:881 |
| Pagod Syndrome |
|
Congenital diaphragmatic hernia, Situs inversus totalis, Abnormal testis morphology, Omphalocele,... |
ORPHA:991 |
| Cyclic Neutropenia |
|
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Enterocolit... |
ORPHA:2686 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... |
OMIM:619271 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Decreased fertility, Delayed puberty, Hyperinsulinemia, Ovarian neoplasm, N... |
ORPHA:79474 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... |
OMIM:618528 |
| Immunodeficiency 15B |
|
Failure to thrive, Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Delayed puberty, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism |
OMIM:619718 |
| Immunodeficiency 67 |
|
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... |
OMIM:607676 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia |
OMIM:617466 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... |
OMIM:601859 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Failur... |
OMIM:618048 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Acute kidney injury, Minimal chan... |
ORPHA:567548 |
| Digeorge Syndrome |
|
Bifid uvula, Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Hypocalce... |
OMIM:188400 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Small fo... |
OMIM:618858 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, High palate, Cryptorchidism, Thrombocytopenia |
ORPHA:261250 |
| Congenital Factor Vii Deficiency |
|
Menorrhagia, Ovarian cyst |
ORPHA:327 |
| Mevalonic Aciduria |
|
Fluctuating splenomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevat... |
OMIM:610377 |
| Bernard-Soulier Syndrome |
|
Giant platelets, Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induce... |
OMIM:231200 |
| Meacham Syndrome |
|
Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S... |
OMIM:608978 |
| Bardet-Biedl Syndrome 20 |
|
Elevated circulating hepatic transaminase concentration, Pancreatitis, Bilateral cryptorchidism, ... |
OMIM:619471 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Isolated Agammaglobulinemia |
|
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... |
ORPHA:229717 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, High palate, Hepatitis, Neutropenia |
ORPHA:33110 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urinary incontinence, Hypospadias, Patent ductus arteriosus, Pelvic kidney, Imperforate hymen, He... |
OMIM:619522 |
| Dubowitz Syndrome |
|
Abnormal female external genitalia morphology, Abnormality of neutrophils, Anemia, Hypospadias, H... |
ORPHA:235 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Congenital hypothyroidism, Cryptorchidism, Micropenis, Supernumerary nipple |
ORPHA:2519 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... |
ORPHA:210136 |
| Emanuel Syndrome |
|
Unilateral renal agenesis, Ectopic anus, Infertility, High palate, Anal atresia, Renal hypoplasia... |
ORPHA:96170 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:615952 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
| Congenital Fibrinogen Deficiency |
|
Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventricular hypertrop... |
ORPHA:335 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... |
ORPHA:464329 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Teebi Hypertelorism Syndrome 1 |
|
Bicornuate uterus, Omphalocele, Coronal craniosynostosis, Shawl scrotum, Atrial septal defect, Ve... |
OMIM:145420 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Hydronephrosis, Hypogonadism, Cryptorchidism, Micropenis |
OMIM:612513 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
High palate, Hypothyroidism, Failure to thrive, Nephrocalcinosis, Hypoglycemia, Neutropenia |
OMIM:618005 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hemolytic-uremic syndrome, Jaundice, Hyperhomocystinemia, Glossitis, Mega... |
ORPHA:79282 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Hypocalcemia, Increased circulating myelocyte count, Elevated circulating cr... |
ORPHA:36234 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... |
ORPHA:3226 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Small for ge... |
OMIM:606176 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Abnormal natural kille... |
ORPHA:79124 |
| Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
| Primary Ciliary Dyskinesia |
|
Situs inversus totalis, Male infertility, Transposition of the great arteries, Abnormal atrial ar... |
ORPHA:244 |
| Crimean-Congo Hemorrhagic Fever |
|
Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A... |
ORPHA:99827 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Synophrys, Decreased testicular size, Abnormal hair pattern, Hypogonadism |
ORPHA:85293 |
| Chediak-Higashi Syndrome |
|
Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... |
OMIM:214500 |
| Hypoplasminogenemia |
|
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology, Nephrolithiasis |
ORPHA:722 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Generalized aminoaciduria, Impaired glucose tolerance, Nephrocalcinosis, Hy... |
ORPHA:2088 |
| Nephrotic Syndrome, Type 11 |
|
Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn... |
OMIM:616730 |
| Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia |
OMIM:612242 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc... |
OMIM:613179 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormality of secondary sexual hair, Delayed puberty, Decreased response to growth hormone stimu... |
ORPHA:95494 |
| Snakebite Envenomation |
|
Hypopituitarism, Hyponatremia, Thrombocytopenia, Acute kidney injury |
ORPHA:449285 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Steatorrhea, Elevated circulating hepatic transaminase concent... |
OMIM:618752 |
| Caroli Syndrome |
|
Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrahepatic bile d... |
ORPHA:480520 |
| Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Elevated circulating hepatic transaminase concentration, Cachexi... |
OMIM:610965 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia |
ORPHA:238459 |
| Cimdag Syndrome |
|
Cholelithiasis, Hypogonadism |
OMIM:619273 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... |
OMIM:620486 |
| Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Microscopic hematuria, Proteinuria, Hypoalbuminemia, Renal insufficiency |
ORPHA:84090 |
| Primary Myelofibrosis |
|
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk... |
ORPHA:824 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
B lymphocytopenia, Lymphopenia, T lymphocytopenia |
ORPHA:277 |
| Liver Failure, Infantile, Transient |
|
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Jaundice, Macrove... |
OMIM:613070 |
| Jacobsen Syndrome |
|
Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Pyloric stenosis, Failure ... |
OMIM:147791 |
| Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Stage 5 chronic kidney disease, Elevated circulating creatinine concentration, Renal in... |
OMIM:619468 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Delayed puberty, Bilateral cryptorchidism, Decreased testicular size, Micropenis, Hypogonadotropi... |
ORPHA:2326 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hyposerinemia, Megaloblastic anemia, Esophagitis, Hypoglycinemia, Failure to thrive, Hypogonadism |
ORPHA:79351 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Decreased circula... |
ORPHA:99901 |
| Fraser Syndrome |
|
Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate uterus, Female pseudoher... |
ORPHA:2052 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia, Impotence |
OMIM:615750 |
| Chand Syndrome |
|
Imperforate hymen, Hydroureter, Curly hair |
ORPHA:1401 |
| Myhre Syndrome |
|
Epispadias, External genital hypoplasia, Hypospadias, Cryptorchidism, Precocious puberty, Hypogon... |
ORPHA:2588 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Acute kidney injury, Absent vas deferens, Jaundice, Aplasia/Hypoplasia of the pancreas, Hypospadi... |
ORPHA:93111 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Precocious puberty, Thick eyebrow, Unilateral renal agenesis, Rectovaginal fistula |
OMIM:608980 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,... |
OMIM:620565 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen... |
ORPHA:88618 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Currarino Syndrome |
|
Urinary incontinence, Rectovaginal fistula, Neurogenic bladder, Vesicoureteral reflux, Bicornuate... |
OMIM:176450 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia |
ORPHA:49827 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Leigh Syndrome |
|
3-Methylglutaconic aciduria, Anemia, Generalized aminoaciduria, Renal tubular acidosis, Renal tub... |
ORPHA:506 |
| Dyskeratosis Congenita, X-Linked |
|
Cirrhosis, Anemia, Hypospadias, Acute myeloid leukemia, Pancytopenia, Phimosis, Decreased testicu... |
OMIM:305000 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypothyroidism, Hyperglycemia, Left ventricular hypertrophy, Hypopituitarism, Hyper... |
ORPHA:90065 |
| Immunodeficiency 85 And Autoimmunity |
|
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... |
OMIM:619510 |
| Thrombocytopenia 7 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... |
OMIM:619130 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Osteoporosis, Joint stiffness, Camptodactyly of finger, Failure to thrive, Osteomalac... |
ORPHA:2176 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
3-Methylglutaconic aciduria, Neonatal hypoglycemia, Thrombocytopenia, Leukopenia, Hepatic steatos... |
OMIM:616271 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... |
ORPHA:227990 |
| 9P13 Microdeletion Syndrome |
|
Highly arched eyebrow, External genital hypoplasia, Precocious puberty, Thick eyebrow |
ORPHA:324313 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
External genital hypoplasia, Elevated circulating hepatic transaminase concentration, Jaundice, H... |
OMIM:614231 |
| Phakomatosis Pigmentokeratotica |
|
Pheochromocytoma, Patchy alopecia, Precocious puberty, Cryptorchidism, Unilateral renal hypoplasia |
ORPHA:2874 |
| Slc35A2-Cdg |
|
Transient nephrotic syndrome, Elevated circulating thyroid-stimulating hormone concentration, Pre... |
ORPHA:356961 |
| Overlap Myositis |
|
Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration... |
ORPHA:206572 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Cryptorchidism, Failure to thrive, Hypogonadism, Overweight, Micropenis |
ORPHA:500055 |
| Autoimmune Lymphoproliferative Syndrome |
|
Lymphocytosis, Neoplasm of the tongue, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly... |
ORPHA:3261 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
High palate, Cutaneous abscess, Lymphopenia, Reduced natural killer cell count, Neutropenia |
OMIM:619752 |
| Cornelia De Lange Syndrome 1 |
|
High, narrow palate, Hypospadias, Ectopic kidney, Hypoplastic male external genitalia, Hypoplasti... |
OMIM:122470 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Abnormal thalamus morphology, Intestinal malrotation, Cleft palate, Bifid uvula, Cryptorchidism |
ORPHA:404440 |
| Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Decreased body weight, Thrombocytopenia, Splenomegaly |
OMIM:231000 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Cryptorchidism, High palate, Abnormal anterior horn cell mor... |
ORPHA:1145 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Failure to thrive, Decreased thalamic volume |
OMIM:613668 |
| Wolfram Syndrome |
|
Delayed puberty, Diabetes insipidus, Dysuria, Diabetes mellitus, Hypogonadism, Male hypogonadism,... |
ORPHA:3463 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Anterior hypopituitarism, Diabetes insipidus, Pituitary hypothyroidism,... |
ORPHA:91350 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
High, narrow palate, Obesity, Abnormal social behavior |
ORPHA:444002 |
| Neuroblastoma |
|
Elevated urinary catecholamine level, Anemia, Elevated urinary vanillylmandelic acid, Lymphadenop... |
ORPHA:635 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia |
OMIM:619767 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Aplasia/Hypoplasia of the spleen, Central diabetes insipidus, Non-caseating epithelioid cell gran... |
ORPHA:227982 |
| Erythroderma, Lethal Congenital |
|
Hypoalbuminemia, Failure to thrive |
OMIM:227090 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... |
OMIM:300835 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp... |
OMIM:608233 |
| Immunodeficiency 23 |
|
High palate, Failure to thrive, Lymphopenia, Membranoproliferative glomerulonephritis, Eosinophil... |
OMIM:615816 |
| Diffuse Alveolar Hemorrhage |
|
Hematuria, Anemia, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Elevated circulating... |
ORPHA:90060 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... |
ORPHA:436159 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... |
OMIM:607594 |
| Oligomeganephronia |
|
Congenital diaphragmatic hernia, Elevated circulating creatinine concentration, Decreased glomeru... |
ORPHA:2260 |
| Vacterl/Vater Association |
|
Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormality of the pancreas, Ect... |
ORPHA:887 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia |
OMIM:616871 |
| Diphallia |
|
Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Ectopic sc... |
ORPHA:227 |
| Type 1 Diabetes Mellitus |
|
Polyuria, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
| Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... |
OMIM:617237 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Cirrhosis, Cholangitis, Pancytopenia, Neutropenia in presence of anti-neutropil antibodies, Thyro... |
ORPHA:228426 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... |
OMIM:619534 |
| Aspergillosis |
|
Eosinophilia, Hepatitis, Abnormal esophagus morphology, Neutropenia |
ORPHA:1163 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Low posterior hairline, Aplasia/Hypoplasia of the nipples, Sparse eyebrow, ... |
ORPHA:1521 |
| Congenital Lethal Erythroderma |
|
Hypoalbuminemia, Failure to thrive |
ORPHA:1954 |
| Luscan-Lumish Syndrome |
|
Obesity, Advanced ossification of carpal bones, Irregular menstruation, Polycystic ovaries |
OMIM:616831 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Enlarged kidney, Subperiosteal bone formation, Unilateral renal agenesis, Inguinal he... |
OMIM:618188 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Meckel diverticulum, Hyperbilirubinemia, Acholic stools, Pancr... |
OMIM:615710 |
| Fibrous Dysplasia Of Bone |
|
Rickets, Difficulty walking, Precocious puberty in females, Pathologic fracture, Testicular neopl... |
ORPHA:249 |
| Hereditary Renal Hypouricemia |
|
Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Uric acid urolithiasis inde... |
ORPHA:94088 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... |
OMIM:616005 |
| Familial Adenomatous Polyposis 4 |
|
Uterine leiomyoma, Ovarian cyst, Thyroid adenoma, Renal cyst |
OMIM:617100 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, External genital hypoplasia, Hypogonadism, Hypoplasia of penis |
ORPHA:2250 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:77293 |
| Aspartylglucosaminuria |
|
Hepatomegaly, Vacuolated lymphocytes, Aspartylglucosaminuria, Macroglossia, Macroorchidism, Neutr... |
OMIM:208400 |
| Nephrotic Syndrome, Type 6 |
|
Tubulointerstitial fibrosis, Minimal change glomerulonephritis, Focal segmental glomerulosclerosi... |
OMIM:614196 |
| Sarcoidosis |
|
Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc... |
ORPHA:797 |
| Adams-Oliver Syndrome 1 |
|
Supernumerary nipple, Imperforate hymen, Alopecia |
OMIM:100300 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic endocrine tumor, Adren... |
ORPHA:892 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Decreased serum creatinine, Ataxia, Elevated circulating guanidinoacetic acid concentration |
OMIM:612736 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Low posterior hairline, Wide intermamillary distance, Uterus didelphys, Absent gallbladder, Septa... |
OMIM:617925 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Synophrys, Precocious puberty, Hydronephrosis, Cryptorchidism, Micropenis, Aplas... |
ORPHA:96092 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Intestinal obstruction, Liver abscess, Anemia, Elevated circulating hepatic transam... |
ORPHA:67 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hydrometrocolpos, Horseshoe kidney, Vaginal atresia, Patent ductus arteriosus |
OMIM:617088 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Hypothyroidism, Lymphopenia, Aut... |
OMIM:607944 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmentation of hair, Abnormal vagina morphology, Synophrys, White... |
ORPHA:3440 |
| Alexander Disease Type I |
|
Cachexia, Abnormal thalamic MRI signal intensity, Failure to thrive |
ORPHA:363717 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Thrombocytopenia, Leuko... |
ORPHA:505248 |
| 22Q11.2 Deletion Syndrome |
|
Intestinal malrotation, Splenomegaly, Multiple renal cysts, Aganglionic megacolon, Hypospadias, H... |
ORPHA:567 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
B lymphocytopenia, Decreased proportion of class-switched memory B cells, Absent circulating B ce... |
OMIM:619705 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Hypogonadism |
OMIM:610651 |
| Immunodeficiency 47 |
|
Normocytic anemia, Cirrhosis, Elevated circulating hepatic transaminase concentration, Hepatomega... |
OMIM:300972 |
| Radio-Tartaglia Syndrome |
|
High anterior hairline, Highly arched eyebrow, Hirsutism, Long eyebrows, Long eyelashes, Synophry... |
OMIM:619312 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia, Ascites |
ORPHA:295 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal salt wasting, Elevated circulating creatinine concentration, Anemia, Decreased glomerular f... |
OMIM:174000 |
| Von Hippel-Lindau Syndrome |
|
Hepatic hemangioma, Neoplasm of the pancreas, Pheochromocytoma, Polycythemia, Papillary cystadeno... |
OMIM:193300 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Neutropenia, Cholangitis, Viral hepatitis, Biliary tract abnormality, Failure to... |
OMIM:209920 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... |
ORPHA:101096 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Hyperphosphaturia, Horseshoe kidney, Alopecia |
OMIM:163200 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Elevated circulating creatinine concentration... |
OMIM:614723 |
| Sitosterolemia 1 |
|
Xanthelasma, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevat... |
OMIM:210250 |
| Cystic Fibrosis |
|
Osteopenia, Absent vas deferens, Male infertility, Decreased body mass index, Elevated circulatin... |
ORPHA:586 |
| Trichothiodystrophy 1, Photosensitive |
|
Trichorrhexis nodosa, Nail dystrophy, Brittle hair, Tiger tail banding, Trichoschisis, Hypogonadi... |
OMIM:601675 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Small for gestational age |
OMIM:619057 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia |
OMIM:614868 |
| Down Syndrome |
|
Delayed puberty, Narrow palate, Aganglionic megacolon, Leukemia, Abnormality of the lymphatic sys... |
ORPHA:870 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypocalcemic seizures, Congenital hypoparathyroidism, Hypocalcemia, Hypercalciu... |
ORPHA:2239 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... |
OMIM:242150 |
| Hypomagnesemia 3, Renal |
|
Nephrocalcinosis, Macroscopic hematuria, Stage 5 chronic kidney disease, Elevated circulating cre... |
OMIM:248250 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Thromboc... |
OMIM:618775 |
| Rothmund-Thomson Syndrome |
|
Aplastic anemia, Calcinosis, Anemia, Infertility, Small for gestational age, Leukemia, Neutropenia |
ORPHA:2909 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Weight loss, Hypoglycem... |
ORPHA:134 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Abnormal circulating protein concentration, Abnormal circulating poly... |
ORPHA:103910 |
| Diamond-Blackfan Anemia 11 |
|
Unilateral renal agenesis, Bilateral cleft palate, Anemia of inadequate production, Bone marrow h... |
OMIM:614900 |
| Papillorenal Syndrome |
|
Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesicoureteral reflux... |
OMIM:120330 |
| Cowden Syndrome |
|
Adenoma sebaceum, Abnormal penis morphology, Lipoma, Bone cyst, Enlarged polycystic ovaries, Fail... |
ORPHA:201 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... |
OMIM:242700 |
| Nephrotic Syndrome, Type 3 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Diffuse mes... |
OMIM:610725 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Hypospadias, Synophrys, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hypogona... |
OMIM:603457 |
| Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating procal... |
ORPHA:36238 |
| Prolidase Deficiency |
|
Hepatomegaly, Anemia, High palate, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Failure t... |
OMIM:170100 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Esophageal varix, Hepatoce... |
OMIM:619463 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
| Shigellosis |
|
Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Acute colitis, Splenic abscess, Intes... |
ORPHA:810 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Renal tubular acidosis, High palate, Elevated c... |
ORPHA:2785 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentrati... |
OMIM:617591 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... |
ORPHA:331206 |
| Tularemia |
|
Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr... |
ORPHA:3392 |
| Pallister-Hall Syndrome |
|
Decreased response to growth hormone stimulation test, Hydroureter, Ectopic kidney, Adrenal hypop... |
OMIM:146510 |
| Carpenter Syndrome 1 |
|
External genital hypoplasia, Hydroureter, Precocious puberty, Hydronephrosis, Patent ductus arter... |
OMIM:201000 |
| Smith-Magenis Syndrome |
|
Delayed puberty, Synophrys, Precocious puberty, Hypothyroidism, Abnormality of the ureter |
ORPHA:819 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Precocious puberty, Patent ductus arteriosus, Cryptorchidism, Labial hypertrophy, Neonatal insuli... |
ORPHA:96191 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti... |
ORPHA:289390 |
| Alg8-Cdg |
|
Anemia, Elevated circulating hepatic transaminase concentration, Ascites, Hyponatremia, Failure t... |
ORPHA:79325 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Vesicoureteral reflux |
ORPHA:261652 |
| Ivic Syndrome |
|
Anal atresia, Thrombocytopenia, Leukocytosis, Rectovaginal fistula |
ORPHA:2307 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperglycemia, Hyperlipidemia |
OMIM:604484 |
| Pierson Syndrome |
|
Hypoproteinemia, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic ki... |
OMIM:609049 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Abnormal female external genitalia morphology, Precocious pube... |
ORPHA:2637 |
| Tangier Disease |
|
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T... |
ORPHA:31150 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Absence of labia majora, Hypoplasia of penis, High palate, Failure to thrive, Cleft palate, Hypog... |
ORPHA:2990 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Anemia, Hemophagocytosis, Oroticaciduria, Pancreatitis, Intraalveolar phospholipid ... |
OMIM:222700 |
| Pseudotrisomy 13 Syndrome |
|
Tricuspid atresia, Dextrocardia, Ventricular septal defect, Bicornuate uterus, Omphalocele, Renal... |
OMIM:264480 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Abnormality of the uterus |
ORPHA:1788 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Acute kidney injury, Vaginal stricture, Renal tubular epithelial necrosis, Vaginal dryness, Anemi... |
ORPHA:95455 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Glomerular sclerosis, Normochromic anemia, Cardiomyopathy, Abnormality of the ... |
ORPHA:247691 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... |
ORPHA:731 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Nail dystrophy, Vaginal dryness, Hypospadias, Supernumerary nipple, Absent eyelashes, Patchy alop... |
OMIM:106260 |
| Renal Nutcracker Syndrome |
|
Hematuria, Infertility, Dyspareunia, Renal artery stenosis, Vulval varicose vein, Microscopic hem... |
ORPHA:71273 |
| Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Acute kidney injury, Renal insufficiency, Hyperuricemia, Dysuria, Uric acid nephrolithiasis, Macr... |
ORPHA:79233 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Cholestasis, Ascites, Lymphopenia, Hepatic steatosis, Decreased CD4:CD8 rat... |
OMIM:619573 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141179 |
| Fetal Cytomegalovirus Syndrome |
|
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... |
ORPHA:294 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
| Pseudo-Torch Syndrome 1 |
|
Decreased liver function, Jaundice, Elevated circulating hepatic transaminase concentration, Hepa... |
OMIM:251290 |
| Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macroc... |
OMIM:250250 |
| Noonan Syndrome 14 |
|
High, narrow palate, Cryptorchidism, Lymphopenia |
OMIM:619745 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... |
OMIM:618462 |
| Ciliary Dyskinesia, Primary, 45 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:618801 |
| Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Fusion of the... |
ORPHA:59315 |
| Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Hyperglycemia, Truncal obesity, Irregular menstruation |
OMIM:615986 |
| Immune Thrombocytopenia |
|
Hematuria, Abnormal vaginal bleeding, Thrombocytopenia |
ORPHA:3002 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Decreased HDL cholesterol concentration, Urinary incontinence, Iron deficiency anemia, Hypotrigly... |
OMIM:618885 |
| Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Aplasia of the vagina, Synophrys, White forelock, Thick eyebrow, White... |
OMIM:193500 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Peritonitis, ... |
ORPHA:656 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Autoimmune hemolytic anemia, Delayed puberty, Abnormality of the endocrine system, Primary hypoth... |
ORPHA:391487 |
| Rapidly Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Thrombocytopenia |
ORPHA:141184 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Highly arched eyebrow, Synophrys, Chordee, Cryptorchidism, Supernumerary nipple |
OMIM:616728 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty |
ORPHA:163681 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet... |
OMIM:617443 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Syndromic Diarrhea |
|
Cirrhosis, Abnormality of iron homeostasis, Gastritis, Villous atrophy, Hepatomegaly, Polycystic ... |
ORPHA:84064 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Failure to thrive, Breast aplasia |
ORPHA:276413 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Vesicoureteral reflux, Esophagitis, Cleft p... |
OMIM:612562 |
| Roberts Syndrome |
|
Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, High palate, Cleft palate, Thrombo... |
ORPHA:3103 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, H... |
OMIM:617156 |
| Hermansky-Pudlak Syndrome |
|
Weight loss, Menometrorrhagia, Abnormality of thrombocytes, Renal insufficiency, Neutropenia |
ORPHA:79430 |
| Beckwith-Wiedemann Syndrome |
|
Enlarged kidney, Ureteral duplication, Large intestinal polyposis, Splenomegaly, Multiple renal c... |
ORPHA:116 |
| Schinzel-Giedion Syndrome |
|
Annular pancreas, Aganglionic megacolon, Hypospadias, Anteriorly placed anus, Macroglossia, High ... |
ORPHA:798 |
| Letterer-Siwe Disease |
|
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Hyperammonemia, Thrombocytopenia, Weight loss |
ORPHA:79242 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Abnormal social behavior, Abnormal urinary acylglycine pr... |
ORPHA:391417 |
| Microphthalmia, Syndromic 3 |
|
Hypospadias, Esophageal atresia, Anterior pituitary hypoplasia, Hypothalamic hamartoma, Cryptorch... |
OMIM:206900 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Abnormal renal phys... |
OMIM:223900 |
| Castleman Disease |
|
Intestinal obstruction, Jaundice, Anemia, Hematuria, Elevated circulating C-reactive protein conc... |
ORPHA:160 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Hypernatremia, Failure to thrive, Reduced circulating... |
OMIM:615508 |
| Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Hepatomegaly, Anemia, Elevated circulating hepatic tran... |
ORPHA:829 |
| Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Male infertility, High, narrow palate, Hypospadias, Amegakaryoc... |
OMIM:163950 |
| Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, High palate, Thrombocytopenia, Abnormality of the spleen, Splenomegaly |
ORPHA:85212 |
| Cartilage-Hair Hypoplasia |
|
Aganglionic megacolon, Anemia, Hepatomegaly, Hypocalcemia, Mucopolysacchariduria, Failure to thri... |
ORPHA:175 |
| Aapoaiv Amyloidosis |
|
Abnormal renal medulla morphology, Glomerular sclerosis, Cardiac amyloidosis, Hyperlipidemia, Hyp... |
ORPHA:439232 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hydroureter, Hypospadias, Hypoplastic labia minora, Hypoplastic nipples, Bicornuate uterus, Urete... |
OMIM:269150 |
| Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
| Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly |
ORPHA:158029 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Hypospadias, Precocious puberty, Premature... |
ORPHA:96182 |
| Acute Generalized Exanthematous Pustulosis |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos... |
ORPHA:293173 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Breast aplasia, Alopecia |
ORPHA:90153 |
| Ivic Syndrome |
|
Rectovaginal fistula, Leukocytosis, Anal atresia, Intestinal malrotation, Thrombocytopenia |
OMIM:147750 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Failure to thrive, Thrombocytopenia, Splenomegaly |
OMIM:259700 |
| Stuve-Wiedemann Syndrome 2 |
|
Thrombocytopenia |
OMIM:619751 |
| Aicardi-Goutieres Syndrome 1 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Diabetes insipidus, Hypoth... |
OMIM:225750 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... |
OMIM:173590 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Hirsutism, Synophrys, Long eyelashes, Precocious puberty, Thick eyebrow, T... |
OMIM:615485 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Anemia, Unilateral renal agenesis, Pancytopenia, Vesicoureteral reflux, High palate, Renal hypopl... |
OMIM:620654 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Autoimmune hemolytic anemia, Intestinal obstruction, Ileal atresia, Impaired lymphocyte transform... |
OMIM:243150 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Atrial septal defect, Hypospadias, Inguinal hernia, Craniosynost... |
ORPHA:2745 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
High palate, Decreased thalamic volume |
OMIM:619072 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, High palate, Hyperlipidemia, Hyperglycemia, Stage 5 chronic kidney disease, Glu... |
OMIM:608612 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
High anterior hairline, Hypospadias, Sparse scalp hair, Synophrys, Chordee, Sparse eyebrow, Crypt... |
ORPHA:477993 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Hypophosphatemic rickets, Anemia, Proximal tubulopathy, High pala... |
OMIM:619743 |
| Isovaleric Acidemia |
|
Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Elevate... |
OMIM:243500 |
| Stormorken Syndrome |
|
Anemia, Hematuria, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asple... |
OMIM:185070 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy... |
OMIM:102700 |
| Scalp-Ear-Nipple Syndrome |
|
Unilateral renal agenesis, Breast aplasia, Patchy alopecia, Renal hypoplasia, Aplasia/Hypoplasia ... |
OMIM:181270 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Neonatal hypoglycemia, Elevated circulating creatine kinase concentration, Failure to thrive, Sma... |
OMIM:619055 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... |
ORPHA:508542 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Breast aplasia, Aplasia/Hypoplasia of the nipples, Sparse hair, Duplication... |
ORPHA:2036 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Type I diabetes mellitus, Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Hypospadias, Long eyelashes |
OMIM:615877 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... |
OMIM:139090 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
| Tuberous Sclerosis 1 |
|
Preauricular hair displacement, Adenoma sebaceum, Renal cyst, Precocious puberty, Hypothyroidism,... |
OMIM:191100 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Increased ci... |
OMIM:618886 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Urinary bladder sphincter dysfunction, Elevat... |
ORPHA:64753 |
| Malakoplakia |
|
Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,... |
ORPHA:556 |
| Microsporidiosis |
|
Myocarditis, Urethritis, Prostatitis, Pancreatitis, Cholangitis, Abnormal fallopian tube morpholo... |
ORPHA:2552 |
| Zygomycosis |
|
Gastritis, Neutropenia, Pancreatitis, Mediastinal lymphadenopathy, Splenic abscess, Colitis, Colo... |
ORPHA:73263 |
| Hypouricemia, Renal, 1 |
|
Acute kidney injury, Renal tubular epithelial necrosis, Hypouricemia, Uric acid nephrolithiasis, ... |
OMIM:220150 |
| Ogden Syndrome |
|
Narrow palate, Enlarged kidney, Jaundice, Maternal diabetes, Iron deficiency anemia, Macrovesicul... |
OMIM:300855 |
| Jacobsen Syndrome |
|
Annular pancreas, Ectopic anus, Intestinal malrotation, Pyloric stenosis, Bone marrow hypocellula... |
ORPHA:2308 |
| Meckel Syndrome, Type 1 |
|
Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Polycystic kidney dyspl... |
OMIM:249000 |
| Johanson-Blizzard Syndrome |
|
Clitoral hypertrophy, Hypospadias, Rectovaginal fistula, Primary hypothyroidism, Hypoplastic nipp... |
OMIM:243800 |
| Boutonneuse Fever |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko... |
ORPHA:83313 |
| Camurati-Engelmann Disease |
|
Delayed puberty, Hepatomegaly, Anemia, Cachexia, Slender build, Leukopenia, Splenomegaly, Hypogon... |
ORPHA:1328 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Uremic Pruritus |
|
Hypermagnesemia, Increased blood urea nitrogen, Hypercalcemia, Chronic kidney disease, Renal hypo... |
ORPHA:94059 |
| Sponastrime Dysplasia |
|
Hypospadias, Precocious puberty, Hypothyroidism, Small for gestational age, Neutropenia |
ORPHA:93357 |
| Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating hepatic transa... |
OMIM:620138 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Failure to thr... |
OMIM:618460 |
| Fg Syndrome Type 1 |
|
Hypospadias, Small pituitary gland, Abnormal social behavior, High palate, Anal atresia, Abnormal... |
ORPHA:93932 |
| Say-Barber-Miller Syndrome |
|
Abnormal T cell morphology, High palate, Hypogonadism, Impaired neutrophil chemotaxis, Cryptorchi... |
ORPHA:3132 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
| Stevens-Johnson Syndrome |
|
Anemia, Elevated circulating hepatic transaminase concentration, Pancreatitis, Renal insufficienc... |
ORPHA:36426 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, 3-Methylglutaconic aciduria, Anemia, Neutropenia |
OMIM:619835 |
| Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Micropenis, Supernumerary nipple |
OMIM:263750 |
| Hermansky-Pudlak Syndrome 10 |
|
Hepatomegaly, Splenomegaly, Neutropenia |
OMIM:617050 |
| Nephrotic Syndrome, Type 8 |
|
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Hypoalbuminemia, Diffuse mesangial scler... |
OMIM:615244 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Premature graying of hair, Nail dystrophy, Annular pancreas, Absent eyelashes, Sparse scalp hair,... |
OMIM:268400 |
| Acute Bilirubin Encephalopathy |
|
Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... |
ORPHA:529799 |
| Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Prolonged neonatal jaundice, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... |
ORPHA:529808 |
| Juvenile Nephropathic Cystinosis |
|
Low-molecular-weight proteinuria, Elevated circulating creatinine concentration, Renal phosphate ... |
ORPHA:411634 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Thrombo... |
OMIM:254900 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... |
OMIM:187800 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hyperbilirubinemia,... |
ORPHA:542323 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Maturity-onset diabetes of the young, Hyperglycemia, Elevated ... |
OMIM:609812 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Type II diabetes mellitus, Sparse scalp hair, Hypospadias |
OMIM:210720 |
| Gaucher Disease |
|
Delayed puberty, Decreased HDL cholesterol concentration, Cirrhosis, Anemia, Hematuria, Cholelith... |
ORPHA:355 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, Urinary incontinence, Inappropriate behavior |
OMIM:221770 |
| Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric... |
ORPHA:79126 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Anemia, Generalized lymphadenopathy, Pancytopenia, Hepatitis, Hypothyroidism, Nephr... |
OMIM:615846 |
| Toriello-Lacassie-Droste Syndrome |
|
Epispadias, Hypospadias, Abnormality of the ureter, Failure to thrive, Abnormal penis morphology |
ORPHA:3339 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Enlarged kidney, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Mu... |
ORPHA:276280 |
| Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia, Adrenocortical adenoma, Postprandial hyper... |
ORPHA:681 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... |
ORPHA:35078 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia |
ORPHA:169160 |
| Leptospirosis |
|
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocyto... |
ORPHA:509 |
| Von Willebrand Disease, Platelet-Type |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... |
OMIM:613807 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... |
OMIM:613839 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Abnormality of the endocrine system, Abnormality of the l... |
ORPHA:487796 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
| Baller-Gerold Syndrome |
|
Anomalous splenoportal venous system, Rectovaginal fistula, Perineal fistula, High palate, Anal a... |
OMIM:218600 |
| Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati... |
OMIM:615688 |
| Ciliary Dyskinesia, Primary, 18 |
|
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms |
OMIM:614874 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Omphaloce... |
ORPHA:2059 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem... |
OMIM:259720 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Failure to thrive, Thrombocytopenia |
OMIM:616577 |
| Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Failure to thrive, Splenomegaly, Hyp... |
OMIM:216400 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Hepatomegaly, Microcolon, Splenomegaly, Hypogonadism, Ileus |
ORPHA:163746 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... |
OMIM:153670 |
| Doors Syndrome |
|
Narrow palate, High palate, Congenital hypothyroidism, Adrenal hyperplasia, Cleft palate, Hydrone... |
ORPHA:79500 |
| Acquired Purpura Fulminans |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hepatic failure |
ORPHA:49566 |
| Fusariosis |
|
Lung abscess, Brain abscess, Granuloma, Abnormality of the spleen, Peritonitis, Lymphopenia, Abno... |
ORPHA:228119 |
| Fanconi Anemia, Complementation Group T |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:616435 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... |
OMIM:300048 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Abn... |
OMIM:175200 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Thrombocytopenia, Glomerulonephritis |
OMIM:314000 |
| Galloway-Mowat Syndrome 3 |
|
Glomerular sclerosis, High palate, Nephrotic syndrome, Failure to thrive, Diffuse mesangial scler... |
OMIM:617729 |
| Immunodeficiency 40 |
|
Rectal fistula, Hepatomegaly, Macrovesicular hepatic steatosis, Focal active colitis, Elevated ci... |
OMIM:616433 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Urinary incontinence |
OMIM:602099 |
| Floating-Harbor Syndrome |
|
Mesocardia, Ivory epiphyses of the distal phalanges of the hand, Hypospadias, Inguinal hernia, Gl... |
OMIM:136140 |
| Ciliary Dyskinesia, Primary, 9 |
|
Absent outer dynein arms, Male infertility |
OMIM:612444 |
| Microphthalmia, Syndromic 2 |
|
Hypospadias, Patent ductus arteriosus, Hypothyroidism, Thick eyebrow, Laterally curved eyebrow, S... |
OMIM:300166 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute kidney injury, Rectal prolapse, Pancreatitis, Hypokalemia, Acute colitis, Anuria, Intestina... |
ORPHA:90038 |
| Pediatric Systemic Lupus Erythematosus |
|
Hematuria, Lymphadenopathy, Lymphopenia, Ascites, Nephrotic syndrome, Nephritis, Thrombocytopenia... |
ORPHA:93552 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Ankyloglossia, Bil... |
OMIM:619525 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... |
OMIM:614074 |
| Fraser-Like Syndrome |
|
Ovarian cyst, Contracture of the proximal interphalangeal joint of the 2nd finger |
OMIM:229230 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... |
ORPHA:276 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:611490 |
| Aicardi-Goutières Syndrome |
|
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all... |
ORPHA:51 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated circulating hepatic transaminase concentration, Ketotic hypoglycemia, Hyperlipidemia, Gl... |
ORPHA:2089 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the tongue, Abnor... |
ORPHA:100026 |
| Orofaciodigital Syndrome Type 6 |
|
Hypothalamic hamartoma, Tongue nodules, High palate, Bilateral cryptorchidism, Failure to thrive,... |
ORPHA:2754 |
| Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia |
OMIM:612952 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... |
ORPHA:760 |
| Fryns Syndrome |
|
Large for gestational age, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, R... |
OMIM:229850 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hyperinsulinemia, Hepatomegaly, Hyperlipidemia, High palate, Impaired glucose toleran... |
OMIM:248370 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
B lymphocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:301081 |
| Porphyria, Congenital Erythropoietic |
|
Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio... |
OMIM:263700 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Urinary bladder sphincter dysfun... |
ORPHA:52430 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Anemia, Hypokalemia, Failure to thrive, Colon cancer, H... |
OMIM:174900 |
| Immunodeficiency 9 |
|
Failure to thrive, Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia |
OMIM:612782 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility, Asplenia |
OMIM:618948 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology |
OMIM:606353 |
| Floating-Harbor Syndrome |
|
Atrial septal defect, Mesocardia, Hypospadias, Broad-based gait, Polycystic kidney dysplasia, Ren... |
ORPHA:2044 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
| Fanconi-Bickel Syndrome |
|
Generalized aminoaciduria, Hypophosphatemia, Postprandial hyperglycemia, Intrahepatic cholestasis... |
OMIM:227810 |
| Cowden Syndrome 6 |
|
Subcutaneous lipoma, Varicocele, Ovarian cyst, Goiter, Hydrocele testis |
OMIM:615109 |
| Systemic Lupus Erythematosus |
|
Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, Lupus nephritis |
OMIM:152700 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:277480 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Tuberous Sclerosis 2 |
|
Adenoma sebaceum, Renal cyst, Precocious puberty, Hypothyroidism, Renal angiomyolipoma, Absence o... |
OMIM:613254 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Epispadias, High, narrow palate, External genital hypoplasia, Hypospadias, Cryptorchidism, Bifid ... |
ORPHA:2658 |
| Donnai-Barrow Syndrome |
|
Congenital diaphragmatic hernia, Bicornuate uterus, Omphalocele, Non-acidotic proximal tubulopath... |
OMIM:222448 |
| Adams-Oliver Syndrome |
|
Cirrhosis, Esophageal varix, Ascites, Portal hypertension, Failure to thrive, Thrombocytopenia, L... |
ORPHA:974 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Epispadias, Hypospadias, Bifid scrotum, Shawl scrotum, Abnormal penis morphology |
ORPHA:2211 |
| Braddock-Carey Syndrome 1 |
|
Cleft palate, Thrombocytopenia, Multicystic kidney dysplasia, Anteriorly placed anus |
OMIM:619980 |
| 1P36 Deletion Syndrome |
|
Abnormal female external genitalia morphology, Annular pancreas, Hypospadias, Hypoplasia of penis... |
ORPHA:1606 |
| Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Hypospadias, Increased serum testosterone ... |
ORPHA:3455 |
| Specific Granule Deficiency 1 |
|
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... |
OMIM:245480 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypoglycemia, Thrombocytopenia |
OMIM:617710 |
| Lujo Hemorrhagic Fever |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... |
ORPHA:319213 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Atrial septal defect, Tricuspid atresia, Truncus arteriosus, Renal cyst, Tetralogy of Fallot, Par... |
OMIM:617478 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Precocious puberty, Proteinuria, Sparse hair, Patent ductus arteriosus, Cryptorchidism |
OMIM:616682 |
| Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
| Cowden Syndrome 5 |
|
Goiter, Ovarian cyst, Subcutaneous lipoma, Hydrocele testis |
OMIM:615108 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Bilateral cryptorchidism, Hypogonadism, Synophrys |
ORPHA:3042 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Ketonuria |
OMIM:618857 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminas... |
ORPHA:94093 |
| Galloway-Mowat Syndrome 1 |
|
High palate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia... |
OMIM:251300 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated circulating hepatic transaminase concentration, Hyperammonemia, Failure to thrive, Hyper... |
OMIM:615453 |
| Pancreatic And Cerebellar Agenesis |
|
Anemia, Pancreatic hypoplasia, Pancreatic aplasia, Failure to thrive, Hyperglycemia, Hypoglycemia... |
OMIM:609069 |
| Okamoto Syndrome |
|
Urinary incontinence, Abnormal left ventricle morphology, Primum atrial septal defect, Omphalocel... |
ORPHA:2729 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Anemia, Elevated circulating C-reactive protein concentration, Failure to thrive, Paratracheal ly... |
OMIM:615934 |
| Kabuki Syndrome |
|
Hypospadias, Hypoplasia of penis, Highly arched eyebrow, Long eyelashes, Sparse lateral eyebrow, ... |
ORPHA:2322 |
| Townes-Brocks Syndrome |
|
Delayed puberty, Hypospadias, Rectovaginal fistula, Hypoplasia of penis, Abnormal vagina morpholo... |
ORPHA:857 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Menorrhagia |
OMIM:601709 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Hyposthenuria, Decreased circulating renin level, Decreased serum cr... |
OMIM:300539 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... |
OMIM:600802 |
| Oculoskeletodental Syndrome |
|
Nephrocalcinosis, Abnormal thalamus morphology |
ORPHA:557003 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... |
OMIM:614946 |
| Cornelia De Lange Syndrome |
|
Delayed puberty, Hypoplasia of penis, Highly arched eyebrow, Low posterior hairline, Hypospadias,... |
ORPHA:199 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Microvesicular he... |
OMIM:611126 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Acute kidney injury, Hematuria, Decreased glomerular filtration rate, Acute tubuloi... |
ORPHA:340 |
| Von Willebrand Disease |
|
Abnormal platelet function, Menorrhagia, Thrombocytopenia, Abnormality of thrombocytes, Microcyti... |
ORPHA:903 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, External genital hypoplasia, Abnormal soci... |
ORPHA:177907 |
| Pyruvate Carboxylase Deficiency |
|
Hypertaurinemia, Elevated plasma citrulline, Hepatomegaly, Hyperglutamatemia, Lacticaciduria, Inc... |
ORPHA:3008 |
| Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Weight loss, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:1302 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Nephrotic syndrome, Microscopic hematuria, Nephritis, Thrombocytopenia, Prote... |
OMIM:301050 |
| Kawasaki Disease |
|
Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentration, Glossi... |
ORPHA:2331 |
| Yellow Fever |
|
Acute kidney injury, Jaundice, Hyperbilirubinemia, Anuria, Acute pancreatitis, Leukocytosis, Elev... |
ORPHA:99829 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Perianal abscess, Anal fissure, Recurrent tonsillitis, Lymphadenopathy, Acute pancreatitis, Lymph... |
OMIM:618935 |
| Xeroderma Pigmentosum |
|
Decreased testicular size, Hypogonadism, Cryptorchidism, Aminoaciduria, Alopecia |
ORPHA:910 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Delayed puberty, Protein-losing enteropathy, Impaired lymphocyte tra... |
OMIM:614162 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... |
OMIM:615193 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Hirsutism, Premature adrenarche, Bladder diverticulum, Increased circulating androgen concentrati... |
ORPHA:2976 |
| Townes-Brocks Syndrome 1 |
|
Hypospadias, Multicystic kidney dysplasia, Rectovaginal fistula, Vesicoureteral reflux, Bifid scr... |
OMIM:107480 |
| Charge Syndrome |
|
Delayed puberty, Tracheoesophageal fistula, Lymphopenia, Decreased response to growth hormone sti... |
OMIM:214800 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology |
ORPHA:467166 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Acute kidney injury, Pancreatitis, Decreased urine output, Hypocalcemia, Acute coli... |
ORPHA:544482 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Neutropenia, Lymphopenia |
OMIM:617827 |
| Alexander Disease |
|
Precocious puberty, Diabetes mellitus, Hypothyroidism |
ORPHA:58 |
| Selective Igm Deficiency |
|
Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Stomach cancer,... |
ORPHA:331235 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:616437 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Failure to thrive in infancy, Thrombocytopenia, Hypoplastic nipples, Anemia |
ORPHA:261323 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Legionnaires Disease |
|
Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Hyponatremia, Bone marrow hypocell... |
ORPHA:549 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Portal hypertension, Thromboc... |
OMIM:620367 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Anemia, Decreased body weight, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splen... |
OMIM:608013 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Clitoral hypertrophy, Ectopic kidney, Labial hypoplasia, Vesicoureteral reflux, Bicornuate uterus... |
ORPHA:140952 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Hypermobility of distal interphalangeal joints, Osteolytic defects of the phalanges of the hand, ... |
OMIM:130050 |
| Wiedemann-Rautenstrauch Syndrome |
|
Alopecia of scalp, Hypospadias, Broad eyebrow, Long penis, Increased serum testosterone level, Ab... |
OMIM:264090 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Urinary retention, Small for gestational age, Neutropenia |
OMIM:617799 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascites, Abnormal renal co... |
OMIM:617397 |
| Farber Disease |
|
Elevated circulating hepatic transaminase concentration, Anemia, Lymphadenopathy, Intrahepatic ch... |
ORPHA:333 |
| Penile Agenesis |
|
Hydroureter, Maternal diabetes, Absent penis, Hydronephrosis, Urethral fistula, Bilateral renal h... |
ORPHA:49 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Smooth tongue, Hypoalbuminemia, Failure to thrive, Anemia |
ORPHA:79396 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Atrophic gastritis |
OMIM:616576 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology |
ORPHA:275872 |
| Q Fever |
|
Hepatomegaly, Anemia, Hematuria, Elevated circulating hepatic transaminase concentration, Lymphad... |
ORPHA:781 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Nephro... |
ORPHA:369837 |
| Braddock-Carey Syndrome 2 |
|
Cleft palate, Thrombocytopenia |
OMIM:619981 |
| Idiopathic Hypereosinophilic Syndrome |
|
Anemia, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pa... |
ORPHA:3260 |
| Cryoglobulinemia, Familial Mixed |
|
Hematuria, Abnormal renal physiology, Proteinuria, Chronic kidney disease, Elevated circulating c... |
OMIM:123550 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Neutrophilia, Splenomegaly, ... |
OMIM:612852 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Delayed early-childhood social milestone development, Abnormal thalamus morphology, High palate, ... |
ORPHA:300570 |
| Kasabach-Merritt Phenomenon |
|
Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th... |
ORPHA:2330 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Anal stenosis, B lymphocytopenia, A... |
OMIM:251260 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia |
ORPHA:3240 |
| Tay-Sachs Disease |
|
Precocious puberty |
ORPHA:845 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Epispadias, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology, Abnormal eyela... |
ORPHA:2556 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Good Syndrome |
|
Anemia, Mediastinal lymphadenopathy, Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Ap... |
ORPHA:169105 |
| Tolchin-Le Caignec Syndrome |
|
Precocious puberty, Hirsutism, Thick eyebrow |
OMIM:618971 |
| Icf Syndrome |
|
Abnormality of neutrophils, Anemia, Lymphopenia |
ORPHA:2268 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis |
OMIM:259710 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism |
OMIM:230800 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Congenital hypothyroidism, Neutropenia |
OMIM:271510 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Decreased response to growth hormone stimulation test, Hypospadias, Abnormal social behavior, Tes... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Hypospadias, Abnormal social behavior, Tes... |
ORPHA:363958 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Rectovaginal fistula, Inflammation of the large intestine, Lymphopenia, Intestinal atresia, Absen... |
OMIM:619708 |
| Tufted Angioma |
|
Thrombocytopenia, Anemia |
ORPHA:1063 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypospadias, Microvesicular hepatic steatosis, Hyperammonemia, Failure to thrive, Hyperglycemia, ... |
OMIM:220111 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Hyperammonemia, Thrombocytopenia, 3-hydroxyisovaleric aciduria, Elevated urinar... |
OMIM:253270 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
| Senior-Loken Syndrome 1 |
|
Polyuria, Nephronophthisis, Elevated circulating creatinine concentration, Anemia, Tubulointersti... |
OMIM:266900 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestatic liver disease, Steatorrhea, Hypochromic microcytic anemia, Anemia, Cholestasis, Porta... |
ORPHA:440713 |
| 3P25.3 Microdeletion Syndrome |
|
Pyloric stenosis, High, narrow palate, Cleft palate, Abnormal thalamus morphology |
ORPHA:435638 |
| Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Leukocytosis, Elevated circulating C-reactive protein concentration |
ORPHA:1930 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Renal cyst, Failure to thrive, Cardiomegaly, Polycystic ovaries, Ventricular septal... |
ORPHA:137675 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, High pa... |
OMIM:620185 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Absent or minimally ossified vertebral bodies, Hypoplasia of penis, Abnormal pelvis bone ossifica... |
ORPHA:93271 |
| Psoriasis 14, Pustular |
|
Cholangitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Furrowed tongue... |
OMIM:614204 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Hyperglycemia, Ty... |
OMIM:615812 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ... |
OMIM:617718 |
| Proteus Syndrome |
|
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Diabetes insipidus, Cachexia,... |
ORPHA:744 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Glossitis, Megaloblastic anemia, Failure to thrive, Thrombocytopenia, Eosinophilia |
ORPHA:90045 |
| Japanese Encephalitis |
|
Focal T2 hyperintense thalamic lesion, Hyperintensity of MRI T2 signal of the spinal cord, Abnorm... |
ORPHA:79139 |
| Congenital Erythropoietic Porphyria |
|
Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level, Increased urinary ... |
ORPHA:79277 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon, Cleft palate, Renal insufficiency |
ORPHA:2165 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Pancreatic hypoplasia, G... |
ORPHA:99885 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Intestinal atresia, Abnormal lower motor neuron morphology, Tracheoesophageal fistula |
ORPHA:93941 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Hypernatremia, Hyperglycemia, Thrombocytopenia, Hypoglycemia, Hyperglyc... |
OMIM:620423 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... |
OMIM:616959 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit... |
OMIM:127550 |
| Hoyeraal-Hreidarsson Syndrome |
|
Anemia, Abnormal leukocyte morphology, Failure to thrive, Bone marrow hypocellularity, Thrombocyt... |
ORPHA:3322 |
| Pauci-Immune Glomerulonephritis |
|
Acute kidney injury, Pancreatitis, Decreased glomerular filtration rate, Glomerular sclerosis, Ne... |
ORPHA:93126 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
3-Methylglutaconic aciduria, Neonatal hypoglycemia, Jaundice, Failure to thrive, 3-Methylglutaric... |
OMIM:617248 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia |
OMIM:616100 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia |
ORPHA:169090 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Inguinal hernia, Hypoplastic labia majora, Hypoplastic male external genitalia, P... |
OMIM:263650 |
| Congenital Syphilis |
|
Anemia, Pancreatitis, Lymphadenopathy, High palate, Nephrotic syndrome, Prolonged neonatal jaundi... |
ORPHA:499009 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Rectal abscess, Failure to thrive, Neutropenia |
OMIM:601495 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Small pituitary gland, Thyroid hypoplasia, Cholestasis, Unicornuate uterus, Joint hypermobility, ... |
OMIM:619503 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Increased mean platelet volume, High palate, Thrombocytopenia |
OMIM:620475 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Hypospadias, Vesicoureteral reflux, High p... |
ORPHA:444077 |
| Williams Syndrome |
|
Hypoplasia of penis, Tracheoesophageal fistula, Nephrocalcinosis, Multiple renal cysts, Urethral ... |
ORPHA:904 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Goodpasture Syndrome |
|
Anemia, Increased blood urea nitrogen, Cylindruria, Macroscopic hematuria, Proteinuria, Weight lo... |
OMIM:233450 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Cholelithiasis, Synophrys |
OMIM:301066 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Tubul... |
ORPHA:79078 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Paralytic ileus, Abnormal thalamic MRI signal intensity, Failure to thrive |
ORPHA:254930 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C... |
OMIM:617099 |
| Congenital Disorder Of Deglycosylation 2 |
|
Hypothalamic hamartoma, High palate, Reduced social reciprocity, Hamartoma of tongue, Macroglossia |
OMIM:619775 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Neurogenic bladder, Urinary incontinence |
OMIM:263570 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Hydrometrocolpos, Alopecia of scalp, Vesicoureteral reflux, Sparse scalp hair, Bilateral cryptorc... |
OMIM:150230 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Atrophy of the spinal cord, Degeneration of anterior... |
OMIM:602433 |
| Ring Chromosome 7 Syndrome |
|
Hypospadias, Highly arched eyebrow, Low anterior hairline, Hypogonadism, Hydrocele testis |
ORPHA:1449 |
| Gaucher Disease Type 3 |
|
Delayed puberty, Hepatomegaly, Anemia, Hematuria, Pancytopenia, Thrombocytopenia, Splenomegaly, P... |
ORPHA:77261 |
| Orofaciodigital Syndrome I |
|
Polycystic kidney dysplasia, Hypothalamic hamartoma, High palate, Ankyloglossia, Cleft palate, Lo... |
OMIM:311200 |
| Ciliary Dyskinesia, Primary, 19 |
|
Absent inner and outer dynein arms, Male infertility |
OMIM:614935 |
| Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopenia, Hepatitis |
ORPHA:319218 |
| Revesz Syndrome |
|
Aplastic anemia, Macrocytic anemia, Bone marrow hypocellularity, Oral leukoplakia, Neutropenia |
OMIM:268130 |
| Autosomal Dominant Robinow Syndrome |
|
Epispadias, Hypospadias, Abnormal penis morphology, Hypoplasia of penis, Curly eyelashes, Alopeci... |
ORPHA:3107 |
| Vexas Syndrome |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia |
OMIM:301054 |
| Early Infantile Epileptic Encephalopathy |
|
Ureterocele, Precocious puberty, Micropenis |
ORPHA:1934 |
| Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation |
OMIM:614171 |
| Norrie Disease |
|
Delayed puberty, Erectile dysfunction, Uterine rupture, Cryptorchidism, Diabetes mellitus |
ORPHA:649 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Aicardi Syndrome |
|
Sparse lateral eyebrow, Precocious puberty, Delayed puberty |
ORPHA:50 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
High anterior hairline, Abnormality of the endocrine system, Vesicoureteral reflux, Nephrolithias... |
ORPHA:438213 |
| Acute Liver Failure |
|
Acute kidney injury, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatic p... |
ORPHA:90062 |
| Acute Radiation Syndrome |
|
Thrombocytopenia, Granulocytopenia, Lymphopenia |
ORPHA:454831 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Polycystic kidney dysplasia, Elbow flexion contracture, Absent n... |
OMIM:200980 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Hydroureter, Hypospadia... |
OMIM:265380 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Urinary incontinence, Hypospadias, Broad eyebrow, Multicystic kidney dysplasia, Pelvic kidney, Ve... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Urinary incontinence, Hypospadias, Broad eyebrow, Multicystic kidney dysplasia, Pelvic kidney, Ve... |
ORPHA:2152 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Large for gestational age, Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ure... |
ORPHA:500095 |
| Acro-Renal-Mandibular Syndrome |
|
Uterus didelphys, Congenital diaphragmatic hernia, Bicornuate uterus |
ORPHA:958 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Thyrotoxicosis with toxic single thyroid nodule, Transient hypophosphatemia, Urinar... |
ORPHA:79102 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypospadias, Vesicoureteral reflux, Decreased testicular size, Renal hypoplasia, Hypogonadism, Sm... |
OMIM:309580 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Oral leukoplakia, H... |
OMIM:224230 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Phoar2-Enteropathy Syndrome |
|
Hypoalbuminemia |
OMIM:614441 |
| Cardiogenic Shock |
|
Oliguria, Elevated circulating creatinine concentration, Hepatomegaly |
ORPHA:97292 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Immunodeficiency 22 |
|
Anemia, Ascites, Failure to thrive, Decreased proportion of CD4-positive helper T cells, Thromboc... |
OMIM:615758 |
| Tick-Borne Encephalitis |
|
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... |
ORPHA:297 |
| Cystic Fibrosis |
|
Male infertility, Steatorrhea, Rectal prolapse, Pancreatitis, Cirrhosis, Hepatomegaly, Hypercalci... |
OMIM:219700 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Ulbright-Hodes Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Polycystic kidney dysplasia, Abno... |
ORPHA:3404 |
| Scorpion Envenomation |
|
Acute kidney injury, Increased circulating NT-proBNP concentration, Hypokalemia, Acute pancreatit... |
ORPHA:466677 |
| Thauvin-Robinet-Faivre Syndrome |
|
Large for gestational age, Renal cyst, Transient neutropenia, Bifid ureter, Macroglossia |
OMIM:617107 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:205100 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity, Atrophy/Degeneration involving the spinal cord, Intestina... |
ORPHA:70595 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High anterior hairline, Long eyelashes, Sparse lateral eyebrow, Horizontal eyebrow, Curly hair, P... |
OMIM:619950 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Neonatal hypoglycemia, High palate, Thrombocytopenia |
ORPHA:572798 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Gaucher Disease, Type Ii |
|
Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Intestinal perforation, Ascites, Thrombocytopenia, Abnormality of the liver |
ORPHA:464321 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Menorrhagia, Thrombocytopenia |
OMIM:620484 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
| Neurofibromatosis Type 1 |
|
Delayed puberty, Abnormality of the endocrine system, Pheochromocytoma, Abnormal hair quantity, P... |
ORPHA:636 |
| Mend Syndrome |
|
Abnormal social behavior, High palate, Failure to thrive, Cleft palate, Cryptorchidism |
ORPHA:401973 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Renal tubular epithelial necrosis, Elevated circulating creatinine concentration, Normocytic anem... |
ORPHA:91500 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Urinary incontinence, Hypospadias, Broad eyebrow, Duplication of renal pelvis, Multicystic kidney... |
ORPHA:261552 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Ascites, Thrombocytopenia, Splenomegaly, Micronodular cirrhosis, Truncal obesity, H... |
OMIM:301072 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| Aicardi Syndrome |
|
Sparse lateral eyebrow, Precocious puberty |
OMIM:304050 |
| Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Tricuspid valve prolapse, Inguinal hernia, Cervical insufficiency, Atrophic scars, In... |
ORPHA:287 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami |
OMIM:617542 |
| Aceruloplasminemia |
|
Abnormal thalamic MRI signal intensity, Diabetes mellitus, Abnormal pancreas morphology |
ORPHA:48818 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Ovarian cyst, Pancreatic adenocarcinoma |
ORPHA:454840 |
| Neu-Laxova Syndrome 1 |
|
Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Camptodacty... |
OMIM:256520 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, H... |
OMIM:124000 |
| Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy |
ORPHA:35689 |
| Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Decreased serum creatinine |
ORPHA:289601 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired epinephrine-induced platelet aggregation, Absence of alpha granules, Impaired collagen-i... |
OMIM:187900 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Volvulus, Thrombocytopenia, Intestinal bleeding, Abnorma... |
OMIM:112200 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Loeys-Dietz Syndrome |
|
Craniosynostosis, Camptodactyly of finger, Joint hypermobility, Atypical scarring of skin, Uterin... |
ORPHA:60030 |
| Hellp Syndrome |
|
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Decreased mean corp... |
ORPHA:244242 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Macroglossia, Decreased thalamic volume |
ORPHA:370959 |
| Common Variable Immunodeficiency |
|
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Gastrointestinal stroma... |
ORPHA:1572 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Urinary incontinence, Hiatus hernia, Urinary urgency |
OMIM:601162 |
| Ciliary Dyskinesia, Primary, 1 |
|
Absent outer dynein arms, Male infertility, Asplenia |
OMIM:244400 |
| Cole Disease |
|
Abnormal blood phosphate concentration, Hyperglycemia |
OMIM:615522 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal upper motor neuron morphology, Abnormal lower motor neuron morphology, Amyotrophic later... |
OMIM:606070 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Abnormal thalamic MRI signal intensity, Myelitis |
ORPHA:83597 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Sweet Syndrome |
|
Anemia, Acute myeloid leukemia, Elevated circulating C-reactive protein concentration, Chronic ly... |
ORPHA:3243 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Anemia |
OMIM:620370 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Biliary atresia, Colon perforation, Pancreatic hypoplasia, Microcolon, Inte... |
OMIM:600001 |
| Diamond-Blackfan Anemia 21 |
|
Thrombocytopenia, Anemia, Erythroid hypoplasia, Obesity |
OMIM:620072 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Cachexia, Ascites, Hypoalbuminemia, Splenomegaly, Cardiomegaly, Eosinophilia |
ORPHA:75565 |
| Reynolds Syndrome |
|
Calcinosis, Steatorrhea, Elevated circulating hepatic transaminase concentration, Jaundice, Hepat... |
OMIM:613471 |
| Wiskott-Aldrich Syndrome |
|
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... |
OMIM:301000 |
| Roberts-Sc Phocomelia Syndrome |
|
Clitoral hypertrophy, Enlarged labia minora, Ankle flexion contracture, Hypospadias, Long penis, ... |
OMIM:268300 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Hypokalemia, Uterine rupture, Inguinal hernia, Abnormal heart valve morphology, Ciga... |
ORPHA:286 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:605432 |
| Lamb-Shaffer Syndrome |
|
Abnormal social behavior |
ORPHA:530983 |
| Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia |
ORPHA:464343 |
| Acrofacial Dysostosis 1, Nager Type |
|
Congenital diaphragmatic hernia, Limited elbow extension, Unilateral renal agenesis, Bicornuate u... |
OMIM:154400 |
| Orofaciodigital Syndrome Vi |
|
Hypothalamic hamartoma, High palate, Tongue nodules, Failure to thrive, Cleft palate, Lobulated t... |
OMIM:277170 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, High palate |
ORPHA:2720 |
| Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration |
OMIM:219750 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Thrombocytopenia |
OMIM:612394 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume |
OMIM:188000 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Acute leukemia, Anal stenosis, Cachexia, Pollakisuria, Anal atresia,... |
ORPHA:647 |
| Pneumocystosis |
|
Abnormal neutrophil count, Weight loss |
ORPHA:723 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p... |
OMIM:601399 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia |
OMIM:300367 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Intestinal bleeding, Oral leukoplakia |
OMIM:612199 |
| Rift Valley Fever |
|
Jaundice, Hematuria, Elevated circulating hepatic transaminase concentration, Anemia, Thrombocyto... |
ORPHA:319251 |
| 17Q11 Microdeletion Syndrome |
|
Delayed puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Renal artery s... |
ORPHA:97685 |
| Neuroferritinopathy |
|
Abnormal thalamic MRI signal intensity, T2 hypointense thalamus |
ORPHA:157846 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal salivary gland morphology, Lacrimal gland aplasia, Abnormal dental enamel morphology, Ar... |
ORPHA:2363 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Acute kidney injury, Decreased liver function, Hypocalcemia, Elevated circulating c... |
ORPHA:466650 |
| Hyper-Igd Syndrome |
|
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... |
OMIM:260920 |
| Hydranencephaly |
|
Atrophic pituitary gland, Thalamic edema, Dysgenesis of the thalamus |
ORPHA:2177 |
| Tuberous Sclerosis Complex |
|
Abnormal social behavior, Pancreatic endocrine tumor, Pheochromocytoma, Polycystic kidney dysplas... |
ORPHA:805 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Neonatal alloimmune thrombocytopenia, Hematuria |
ORPHA:853 |
| Systemic Lupus Erythematosus |
|
Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Weight loss, Hemol... |
ORPHA:536 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Anemia, Lymphopenia |
ORPHA:935 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ... |
OMIM:608203 |
| Fibular Hemimelia |
|
Thrombocytopenia |
ORPHA:93323 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Metachromatic Leukodystrophy, Adult Form |
|
Neoplasm of the gallbladder, Urinary incontinence, Abnormal social behavior |
ORPHA:309271 |
| Childhood Absence Epilepsy |
|
Urinary incontinence, Abnormal social behavior |
ORPHA:64280 |
| Holoprosencephaly 7 |
|
Bilateral cleft palate, Panhypopituitarism, Unilateral cleft palate, Median cleft palate, Fusion ... |
OMIM:610828 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Decreased glomerular filtration rate, Focal segmental glomerulosclerosis, Nephrotic syndrome, Pro... |
OMIM:614748 |
| Osteogenesis Imperfecta |
|
Intestinal obstruction, Hypercalciuria, Nephrolithiasis, Thrombocytopenia, Small for gestational age |
ORPHA:666 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Urinary incontinence, Abnormal social behavior |
ORPHA:309256 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Urinary incontinence, Abnormal social behavior |
ORPHA:309263 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami |
OMIM:619306 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Abnormal social behavior |
ORPHA:1020 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia |
OMIM:313900 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Uraciluria, High palate, Abnormal social behavior |
ORPHA:1675 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Decreased thalamic volume |
ORPHA:168577 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:314647 |
| Niemann-Pick Disease Type C |
|
Abnormal social behavior |
ORPHA:646 |
