Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Premature Ovarian Failure 6 |
|
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... |
OMIM:614841 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
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 |
Lactose Intolerance, Adult Type |
|
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Decreased antimullerian hormone level, Bilateral cryptorchidism, Male infertility |
OMIM:261550 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Impotence, Hypoplasia of the ovary, Hypoplasia of the uterus, Cryptorchi... |
ORPHA:432 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the uterus, Secondary... |
ORPHA:243 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In... |
ORPHA:399805 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Infertility, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased testicular ... |
OMIM:146110 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:66628 |
Frasier Syndrome |
|
Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo... |
ORPHA:347 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Delayed menarche, Hypogonadotropi... |
ORPHA:52901 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... |
ORPHA:179494 |
Gordon Holmes Syndrome |
|
Infertility, Oligomenorrhea, Hypogonadotropic hypogonadism |
OMIM:212840 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Ab... |
ORPHA:3130 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Endometriosis, Susceptibility To, 1 |
|
Endometriosis, Dysmenorrhea, Decreased fertility |
OMIM:131200 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Azoospermia, Type II diabetes mellitus |
OMIM:615703 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge... |
ORPHA:399808 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia, Spermatocele |
OMIM:301060 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Familial Hyperprolactinemia |
|
Amenorrhea, Infertility, Oligomenorrhea, Menorrhagia, Hemorrhagic ovarian cyst, Female hypogonadism |
ORPHA:397685 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Infertility |
OMIM:300719 |
46,Xx Testicular Disorder Of Sex Development |
|
Polycystic ovaries, Ambiguous genitalia, Decreased testicular size, Male hypogonadism |
ORPHA:393 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... |
ORPHA:2232 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Kennedy Disease |
|
Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo... |
OMIM:617442 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology |
OMIM:251850 |
Bardet-Biedl Syndrome |
|
Cryptorchidism, Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism |
ORPHA:110 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Hypogonadism-Cataract Syndrome |
|
Infertility, Elevated circulating follicle stimulating hormone level, Male hypogonadism, Hypogona... |
OMIM:240950 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Ovarian Dysgenesis 3 |
|
Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating... |
OMIM:614324 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism |
ORPHA:1875 |
Hyperprolactinemia |
|
Increased circulating prolactin concentration, Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
Diarrhea 9 |
|
Villous atrophy, Diarrhea |
OMIM:618168 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Bile Acid Malabsorption, Primary, 1 |
|
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic |
OMIM:615863 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Infertility, Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Abnormality of the urethr... |
ORPHA:752 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Decreased response to growth hormone stimulation test... |
ORPHA:3464 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Paternal Uniparental Disomy Of Chromosome X |
|
Infertility, Decreased testicular size, Micropenis |
ORPHA:261524 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Intractable diarrhea, Arthritis |
OMIM:613217 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Secretory diarrhea, ... |
OMIM:619445 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Hypothyroidism, Infertility, Female external genitalia in individual with 46,XY karyotype, Male p... |
OMIM:264300 |
Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
Congenital Short Bowel Syndrome |
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Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... |
OMIM:615237 |
Androgen Insensitivity Syndrome |
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Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... |
ORPHA:754 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
Visceral Myopathy 2 |
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Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Atresia Of Small Intestine |
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Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... |
ORPHA:1201 |
Autosomal Recessive Spastic Paraplegia Type 46 |
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Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... |
ORPHA:320391 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Diarrhea 8, Secretory Sodium, Congenital |
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Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Young Syndrome |
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Azoospermia |
OMIM:279000 |
Spermatogenic Failure, X-Linked, 4 |
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Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein... |
OMIM:301077 |
Cortisone Reductase Deficiency 1 |
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Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
Premature Ovarian Failure 20 |
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Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility... |
OMIM:619938 |
Vas Deferens, Congenital Bilateral Aplasia Of |
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Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
47,Xyy Syndrome |
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Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Varico... |
ORPHA:8 |
Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Hypogonadotropic hypogonadism, Secondary amenorrhea, Decreased fertility |
ORPHA:1643 |
Androgen Insensitivity, Partial |
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Infertility, Bifid scrotum, Micropenis, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
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Female infertility, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Eleva... |
ORPHA:572333 |
Spermatogenic Failure 28 |
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Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Ciliary Dyskinesia, Primary, 34 |
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Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Lactase Deficiency, Congenital |
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Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Inflammatory Bowel Disease 13 |
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Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
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Inflammation of the large intestine |
OMIM:612278 |
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
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Urogenital sinus anomaly, Abnormality of the endocrine system, Hypoplasia of penis, Ambiguous gen... |
ORPHA:753 |
Secondary Short Bowel Syndrome |
|
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... |
ORPHA:95427 |
Pancreatic Lipase Deficiency |
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Fat malabsorption, Steatorrhea |
OMIM:614338 |
Hemochromatosis, Type 2A |
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Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia |
OMIM:602390 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Abnormality of the small intestine, Abdominal pain |
ORPHA:100025 |
Vascular Hyalinosis |
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Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
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Cryptorchidism, Oligospermia |
OMIM:314300 |
46,Xy Complete Gonadal Dysgenesis |
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Polycystic ovaries, Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism |
ORPHA:242 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Jejunoileal ulceration, Small bowel diverticula, Fat malabsorption |
OMIM:221400 |
Diethylstilbestrol Syndrome |
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Hypoplasia of the uterus, Cryptorchidism, Micropenis, Hypospadias, Decreased fertility in females... |
ORPHA:1916 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine |
OMIM:615767 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
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Protein-losing enteropathy, Increased mitochondrial number |
OMIM:619063 |
46,Xx Ovotesticular Disorder Of Sex Development |
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Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Ciliary Dyskinesia, Primary, 45 |
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Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal... |
ORPHA:99429 |
Pituitary Dermoid And Epidermoid Cysts |
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Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
Agammaglobulinemia 4, Autosomal Recessive |
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Chronic sinusitis, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otitis media |
OMIM:613502 |
Retinohepatoendocrinologic Syndrome |
|
Maturity-onset diabetes of the young, Infertility, Hypothyroidism |
OMIM:268040 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
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Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Azoospermia, Hypogonadism |
OMIM:615234 |
Immunodeficiency 31C |
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Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Abnormal intestine morphology |
OMIM:614162 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
Leopard Syndrome 1 |
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Hypoplasia of the ovary, Micropenis, Delayed menarche, Hypospadias, Delayed puberty, Cryptorchidi... |
OMIM:151100 |
Plin1-Related Familial Partial Lipodystrophy |
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Infertility, Hyperinsulinemia, Oligomenorrhea, Insulin-resistant diabetes mellitus at puberty, Ab... |
ORPHA:280356 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
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Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
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Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Genitourinary And/Or Brain Malformation Syndrome |
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Urogenital sinus anomaly, Chordee, Gray matter heterotopia, Streak ovary, Micropenis, Uterus dide... |
OMIM:618820 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Polycystic ovaries, Precocious puberty |
ORPHA:2229 |
Ciliary Dyskinesia, Primary, 26 |
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Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Cutaneous Photosensitivity And Colitis, Lethal |
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Diarrhea, Colitis |
OMIM:219095 |
Eosinophilic Gastroenteritis |
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Malabsorption, Abdominal pain, Steatorrhea, Atopic dermatitis, Diarrhea, Abnormality of the gastr... |
ORPHA:2070 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
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Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:2183 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
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Enterocolitis, Folliculitis, Pancolitis, Perianal abscess, Rectovaginal fistula, Enterocutaneous ... |
OMIM:612567 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
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Eosinophilic microabscess formation in the esophagus, Gastroesophageal reflux, Eosinophilic infil... |
ORPHA:411696 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency |
OMIM:619518 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Polycystic Ovary Syndrome 1 |
|
Amenorrhea, Oligomenorrhea, Enlarged polycystic ovaries |
OMIM:184700 |
Gastroesophageal Reflux |
|
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus |
OMIM:109350 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... |
ORPHA:90793 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Post-Traumatic Pituitary Deficiency |
|
Amenorrhea, Infertility, Abnormal prolactin level, Decreased response to growth hormone stimulati... |
ORPHA:95619 |
Prolactin Deficiency, Isolated |
|
Infertility, Irregular menstruation, Reduced circulating prolactin concentration |
OMIM:264110 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... |
ORPHA:92050 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Abdominal distention, Intestinal malrotation, Vomiting, Pyloric stenosis, Feeding difficulties in... |
OMIM:300048 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear... |
ORPHA:206484 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Fowler Urethral Sphincter Dysfunction Syndrome |
|
Amenorrhea, Abnormality of the urethra, Oligomenorrhea, Menorrhagia, Polycystic ovaries, Abnormal... |
ORPHA:2795 |
Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis |
ORPHA:2978 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Steatorrhea |
OMIM:607748 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabsorption, Chronic diarrhea |
ORPHA:309108 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia |
ORPHA:103910 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Primary amenorrhea, Ovarian cyst, Female pseudohermaphroditism |
OMIM:613546 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Metrorrhagia, Abnormal circu... |
ORPHA:314478 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Bloody diarrhea, Pustule, Villous atrophy, Erythroderma, Duodenitis |
OMIM:614328 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu... |
OMIM:110100 |
Trigonocephaly 1 |
|
Meckel diverticulum |
OMIM:190440 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Decreased testicular size, Micropenis |
OMIM:619321 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia |
OMIM:191390 |
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... |
ORPHA:90796 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Colitis, Skin rash, Anterior uveitis |
OMIM:616744 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty |
ORPHA:90646 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Alg9-Cdg |
|
Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples |
ORPHA:79328 |
Trichohepatoenteric Syndrome 2 |
|
Bloody diarrhea, Colitis, Chronic hepatitis, Diarrhea, Villous atrophy, Chronic diarrhea, Intraut... |
OMIM:614602 |
Ciliary Dyskinesia, Primary, 13 |
|
Absent inner dynein arms, Infertility, Absent outer dynein arms |
OMIM:613193 |
Martinez-Frias Syndrome |
|
Annular pancreas, Duodenal atresia, Intestinal malrotation, Tracheoesophageal fistula, Pancreatic... |
OMIM:601346 |
Ciliary Dyskinesia, Primary, 29 |
|
Infertility |
OMIM:615872 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Ciliary Dyskinesia, Primary, 32 |
|
Infertility |
OMIM:616481 |
Myotonic Dystrophy 2 |
|
Oligospermia, Elevated circulating follicle stimulating hormone level, Type II diabetes mellitus,... |
OMIM:602668 |
Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia |
OMIM:618300 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Malabsorption, Diarrhea |
OMIM:600955 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, Glossitis,... |
OMIM:175500 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Classic Galactosemia |
|
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... |
ORPHA:79239 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Infertility |
OMIM:300991 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Eczema, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Arthritis, ... |
OMIM:616100 |
Mpi-Cdg |
|
Decreased liver function, Diarrhea, Vomiting, Protein-losing enteropathy, Gastrointestinal hemorr... |
ORPHA:79319 |
Microvillus Inclusion Disease |
|
Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Mungan Syndrome |
|
Abdominal pain, Barrett esophagus, Hypoperistalsis, Megaduodenum, Intestinal pseudo-obstruction, ... |
OMIM:611376 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Chronic diarrhea, Ulcerative colitis, Bronchiectasis |
OMIM:618394 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Pustule, Myositis, Arthritis, Increased inflammatory response, Acne |
ORPHA:69126 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Decreased liver function, Protein-losing enteropathy, ... |
ORPHA:79327 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure |
ORPHA:85450 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy |
OMIM:618154 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Abdominal distention, Diarrhea, Vomiting, Neonatal death, Protein-losin... |
OMIM:608104 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Steatorrhea, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy |
OMIM:602579 |
Glucocorticoid Resistance, Generalized |
|
Infertility, Irregular menstruation |
OMIM:615962 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Episodic vomiting, Feeding difficulties in infancy, Villous atrophy, Se... |
OMIM:616050 |
Tetragametic Chimerism |
|
Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,... |
ORPHA:199310 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Villous atrophy, Protracted diarrhea, Chronic mucocutane... |
OMIM:209920 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Enterocolitis |
|
Ulcerative colitis, Abdominal distention, Enterocolitis, Hematochezia |
OMIM:226150 |
Esophagitis, Eosinophilic, 1 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Dysphagia, Vomiting, Esophagitis |
OMIM:613412 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Diarrhea, Pancreatic h... |
OMIM:615710 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Refractory Celiac Disease |
|
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Villous atrophy, Protein-los... |
ORPHA:398063 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Bloody diarrhea, Intestinal atresia, Enterocolitis, Intestinal malrotation, Pso... |
OMIM:243150 |
Ciliary Dyskinesia, Primary, 38 |
|
Infertility, Absent inner and outer dynein arms |
OMIM:618063 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Autoinflammatory-Pancytopenia Syndrome |
|
Intestinal inflammation, Membranoproliferative glomerulonephritis, Chilblains, Chronic diarrhea |
OMIM:619858 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Gapo Syndrome |
|
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism |
ORPHA:2067 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Fat malabsorption, Hepatic failure |
OMIM:214950 |
Prolactinoma |
|
Impotence, Dyspareunia, Decreased fertility in males, Central adrenal insufficiency, Erectile dys... |
ORPHA:2965 |
Alg6-Cdg |
|
Feeding difficulties, Protein-losing enteropathy, Macroglossia |
ORPHA:79320 |
Müllerian Aplasia And Hyperandrogenism |
|
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Primary... |
ORPHA:247768 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Visceral Myopathy 1 |
|
Pancreatitis, Constipation, Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Dysphagia, ... |
OMIM:155310 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Poor suck, Nasogastric tube feeding, Dysphagia, Meckel diverticulum |
ORPHA:163961 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... |
ORPHA:263665 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Carney Complex |
|
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Small bowel diverticula, Colonic diverticula |
OMIM:223330 |
Netherton Syndrome |
|
Intestinal atresia, Allergic rhinitis, Villous atrophy, Erythroderma, Abnormal intestine morphology |
OMIM:256500 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Micropenis, Streak ovary, Hypospadias, Central hypothyroidism |
ORPHA:798 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Tube feeding, Eczema, Vomiting, Villous atrophy, Chronic diarrhea, Erythroderma |
OMIM:619510 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Inflammatory abnormality of the skin, Abdominal pain, Maculopapular ex... |
ORPHA:39812 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Scedosporiosis |
|
Sinusitis, Abnormal jejunum morphology, Osteomyelitis, Endocarditis, Pneumonia, Pericarditis, Art... |
ORPHA:449280 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Eczema, Lymphadenitis, Acute pancreatitis, Perianal abscess, Recurrent pneumonia... |
OMIM:618935 |
Scleroderma |
|
Keratitis, Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett eso... |
ORPHA:801 |
Primary Ciliary Dyskinesia |
|
Female infertility, Abnormal sperm motility, Male infertility |
ORPHA:244 |
Ciliary Dyskinesia, Primary, 24 |
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Infertility |
OMIM:615481 |
Testicular Germ Cell Tumor |
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Azoospermia |
OMIM:273300 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
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Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis |
ORPHA:2239 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
Ciliary Dyskinesia, Primary, 37 |
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Hypothyroidism, Infertility, Goiter |
OMIM:617577 |
Immunodeficiency 57 With Autoinflammation |
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Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, Perianal abscess, Bronchiect... |
OMIM:618108 |
Duodenal Atresia |
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Duodenal atresia |
OMIM:223400 |
Systemic Sclerosis |
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Intestinal bleeding, Gastroesophageal reflux, Abnormal stomach morphology, Barrett esophagus, Ost... |
ORPHA:90291 |
Ovarian Fibroma |
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Ovarian fibroma, Gonadal calcification, Abnormality of the ovary |
ORPHA:314473 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Diarrhea, Hepatocellular carcinoma, Fat malabsorption |
OMIM:601847 |
Chylomicron Retention Disease |
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Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption |
ORPHA:71 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Giant cell hepatitis, Hepatic failure, Steatorrhea, Diarrhea, Fat malabsorption |
OMIM:607765 |
Wolfram Syndrome 1 |
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Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
Congenital Disorder Of Glycosylation, Type Id |
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High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy |
OMIM:601110 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
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Ileus, Eczema, Glomerulonephritis, Arthritis, Villous atrophy, Hepatitis, Chronic diarrhea, Eryth... |
OMIM:304790 |
Ciliary Dyskinesia, Primary, 2 |
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Infertility, Absent inner and outer dynein arms |
OMIM:606763 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Bronchiectasis, Recurrent otitis media, Colitis, Conjunctivitis, Inflammation of the large intest... |
OMIM:614700 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Oligospermia, Breast hypoplasia, Clitoral hypoplasia, Diabetes mellitus |
OMIM:614813 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Duodenal stenosis |
ORPHA:2547 |
Cog8-Cdg |
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Protein-losing enteropathy |
ORPHA:95428 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
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Male infertility |
OMIM:619607 |
Harrod Syndrome |
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High palate, High, narrow palate, Malrotation of small bowel, Pyloric stenosis, Cryptorchidism, A... |
OMIM:601095 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Diarrhea, Fat malabsorption |
OMIM:211600 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Aarskog-Scott Syndrome |
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Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... |
ORPHA:300298 |
Sandifer Syndrome |
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Gastroesophageal reflux, Hematemesis, Feeding difficulties, Hiatus hernia, Episodic vomiting, Eso... |
ORPHA:71272 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Bile duct proliferation, Fat malabsorption, Hepatic failure |
ORPHA:79302 |
Selective Igm Deficiency |
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Keratitis, Recurrent infection of the gastrointestinal tract, Otitis media, Stomach cancer, Rheum... |
ORPHA:331235 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Intestinal malrotation, Duodenal atresia, Chronic sinusitis, Chronic otitis media |
OMIM:619608 |
Juvenile Polyposis Of Infancy |
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Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
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Bronchiectasis, Crohn's disease |
OMIM:619705 |
Serkal Syndrome |
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Malrotation of small bowel |
ORPHA:139466 |
Burkitt Lymphoma |
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Abnormality of the ovary |
ORPHA:543 |
Trichothiodystrophy 3, Photosensitive |
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Feeding difficulties, Pyloric stenosis, Bilateral cryptorchidism, Intrauterine growth retardation... |
OMIM:616395 |
Whim Syndrome |
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Sinusitis, Otitis media, Lymphadenitis, Severe periodontitis, Abnormality of the small intestine,... |
ORPHA:51636 |
Limb-Mammary Syndrome |
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Absent nipple, Bilateral breast hypoplasia, Primary amenorrhea, Hypoplastic nipples, Breast aplas... |
ORPHA:69085 |
X-Linked Non-Syndromic Intellectual Disability |
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Pyloric stenosis, Meckel diverticulum |
ORPHA:777 |
Spastic Paraplegia 84, Autosomal Recessive |
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Crohn's disease |
OMIM:619621 |
Pericardial And Diaphragmatic Defect |
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Intestinal malrotation, Meckel diverticulum, Morphological abnormality of the gastrointestinal tract |
ORPHA:2847 |
Bloom Syndrome |
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Oligospermia, Male infertility, Diabetes mellitus, Azoospermia, Premature ovarian insufficiency |
ORPHA:125 |
Immunodeficiency 82 With Systemic Inflammation |
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Gastritis, Diarrhea, Vomiting, Pneumonia, Colitis, Osteomyelitis, Arthritis, Villous atrophy, Hep... |
OMIM:619381 |
Sapho Syndrome |
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Malabsorption, Osteomyelitis, Pustule, Abdominal pain, Steatorrhea, Recurrent skin infections, Sk... |
ORPHA:793 |
Primary Biliary Cholangitis |
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Abdominal distention, Hepatic failure, Hepatocellular carcinoma, Hepatitis, Celiac disease, Gastr... |
ORPHA:186 |
Primary Intestinal Lymphangiectasia |
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Abdominal pain, Chronic diarrhea, Intestinal lymphangiectasia, Increased stool alpha1-antitrypsin... |
ORPHA:90362 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
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Diarrhea, Neonatal death, Jejunal atresia, Microcolon, Volvulus |
OMIM:609313 |
Duodenal Atresia |
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Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Non-Acquired Panhypopituitarism |
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Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... |
ORPHA:90695 |
Zygomycosis |
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Melena, Gastritis, Unusual gastrointestinal infection, Pancreatitis, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Tsh-Secreting Pituitary Adenoma |
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Impotence, Decreased fertility in males, Central adrenal insufficiency, Increased circulating pro... |
ORPHA:91347 |
Immunodeficiency 58 |
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Bronchiectasis, Colitis, Seborrheic dermatitis, Eczema, Chronic otitis media, Helicobacter pylori... |
OMIM:618131 |
Renal Nutcracker Syndrome |
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Infertility, Dyspareunia, Dysmenorrhea, Vulval varicose vein, Varicocele |
ORPHA:71273 |
Congenital Alveolar Capillary Dysplasia |
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Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Absent gallbla... |
ORPHA:210122 |
Metachromatic Leukodystrophy |
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Abnormal gallbladder morphology, Abnormal stomach morphology, Intussusception, Feeding difficulti... |
ORPHA:512 |
Ciliary Dyskinesia, Primary, 1 |
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Male infertility, Absent outer dynein arms |
OMIM:244400 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Giant cell hepatitis, Hepatic failure, Fat malabsorption, Steatorrhea |
ORPHA:79303 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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High palate, Abdominal distention, Cleft palate, Hepatic failure, Protein-losing enteropathy, Pan... |
OMIM:235255 |
Renal Cysts And Diabetes Syndrome |
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Hypoplasia of the uterus, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturi... |
OMIM:137920 |
Fanconi Anemia, Complementation Group A |
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Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility |
OMIM:227650 |
Combined Immunodeficiency-Enteropathy Spectrum |
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Intrauterine growth retardation, Bloody diarrhea, Abdominal distention, Intestinal atresia, Intes... |
ORPHA:436252 |
Osteootohepatoenteric Syndrome |
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Abdominal pain, Episodic vomiting, Ileoileal intussusception, Villous atrophy, Secretory diarrhea... |
OMIM:619377 |
Matthew-Wood Syndrome |
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Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Cryptorchidism, Intraute... |
ORPHA:2470 |
Familial Mediterranean Fever |
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Crohn's disease, Episodic abdominal pain, Orchitis, Abdominal pain, Peritonitis, Diarrhea, Vomiti... |
OMIM:249100 |
Oculoskeletodental Syndrome |
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Cryptorchidism, Protein-losing enteropathy, Macroglossia |
OMIM:618440 |
Cat Eye Syndrome |
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Anal atresia, Rectal fistula, Cleft palate, Intestinal malrotation, Volvulus, Anal stenosis, Rect... |
OMIM:115470 |
Hypoplasminogenemia |
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Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis |
ORPHA:722 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Thyroiditis, Chronic oral candidiasis, Eczema, Villous atrophy, Chronic diarrhea, Erythroderma, P... |
OMIM:606367 |
Immunodeficiency 89 And Autoimmunity |
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Bronchiectasis, Crohn's disease |
OMIM:619632 |
Spondyloarthropathy, Susceptibility To, 1 |
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Oligoarthritis, Inflammation of the large intestine, Anterior uveitis, Hip osteoarthritis, Sacroi... |
OMIM:106300 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Colitis, Abdominal pain, Skin rash, Diarrhea, Inflammation of the large intest... |
OMIM:301074 |
Diphallia |
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Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Ectopic scrotum, ... |
ORPHA:227 |
Juvenile Polyposis Syndrome |
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Small intestinal polyposis, Neoplasm of the pancreas, Intussusception, Stomach cancer, Abdominal ... |
ORPHA:2929 |
Multiple Endocrine Neoplasia, Type I |
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Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Diarrh... |
OMIM:131100 |
Immunodeficiency 92 |
|
Osteomyelitis, Sclerosing cholangitis, Chronic diarrhea, Esophagitis, Pneumonia, Cholangitis |
OMIM:619652 |
Storm Syndrome |
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Fat malabsorption |
OMIM:185069 |
Zollinger-Ellison Syndrome |
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Pituitary growth hormone cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Episodic a... |
ORPHA:913 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Secretory diarrhea, Cryptorchidism, Protein-losing enteropathy, Hematochezia |
OMIM:618183 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Inflammatory abnormality of the skin, Enterocolitis, Eczema, Diarrhea, Esophageal carcinoma, Vill... |
ORPHA:391487 |
Dextrocardia |
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Intestinal malrotation, Pancreatic hypoplasia, Meckel diverticulum |
ORPHA:1666 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Narrow palate, Erysipelas, Rectal prolapse, Protein-losing enteropathy, Intestinal lymphangiectas... |
OMIM:235510 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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High palate, Abdominal distention, Hepatic failure, Protein-losing enteropathy, Pancreatic lympha... |
ORPHA:1655 |
Tetrasomy 9P |
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Infertility, Micropenis, Pachygyria, Oligospermia, Polymicrogyria, Absent gallbladder, Lissenceph... |
ORPHA:3310 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
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Cryptorchidism, Meckel diverticulum |
OMIM:602613 |
Pearson Marrow-Pancreas Syndrome |
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Malabsorption, Exocrine pancreatic insufficiency, Hepatic failure, Steatorrhea, Anorexia, Pancrea... |
OMIM:557000 |
Postinfectious Vasculitis |
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Bacterial endocarditis, Inflammatory abnormality of the skin, Viral hepatitis, Unusual gastrointe... |
ORPHA:48435 |
Bardet-Biedl Syndrome 1 |
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Nephrogenic diabetes insipidus, Micropenis, Decreased testicular size, Hypogonadism, Vaginal atre... |
OMIM:209900 |
Autosomal Dominant Polycystic Kidney Disease |
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Pituitary growth hormone cell adenoma, Pancreatic cysts, Reduced sperm motility |
ORPHA:730 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... |
ORPHA:99413 |
Turner Syndrome |
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Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... |
ORPHA:881 |
Mosaic Monosomy X |
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Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... |
ORPHA:99228 |
Monosomy X |
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Thyroiditis, Female infertility, Type II diabetes mellitus, Hyperinsulinemia, Primary amenorrhea,... |
ORPHA:99226 |
Congenital Tracheal Stenosis |
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Anal atresia, Duodenal atresia, Abnormal stomach morphology, Morphological abnormality of the gas... |
ORPHA:141127 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Pancreatic fibrosis, Hypoplasia of the small intestine |
OMIM:200995 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Diarrhea, Malnutrition, Fat malabsorption |
ORPHA:96180 |
Tarp Syndrome |
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Cleft palate, Glossoptosis, Abnormal duodenum morphology, Tongue nodules, Cryptorchidism, Intraut... |
ORPHA:2886 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Amenorrhea, Infertility, Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased re... |
ORPHA:95494 |
Parenteral Nutrition-Associated Cholestasis |
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Cholelithiasis, Abdominal pain, Hepatic failure, Villous atrophy, Biliary hyperplasia |
ORPHA:567983 |
Syndromic Diarrhea |
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Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Dependency on intravenous nutrition, Intract... |
ORPHA:84064 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Keratitis, Inflammatory abnormality of the skin, Abdominal distention, Conjunctivitis, Skin rash,... |
ORPHA:95455 |
Congenital Disorder Of Glycosylation, Type Ia |
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Steatorrhea, Diarrhea, Vomiting, Feeding difficulties in infancy, Villous atrophy, Pericarditis |
OMIM:212065 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Tracheoes... |
OMIM:265380 |
X-Linked Intellectual Disability, Snyder Type |
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Hypospadias, Abnormality of the Leydig cells, Testicular atrophy, Cryptorchidism |
ORPHA:3063 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Anteriorly placed... |
ORPHA:1708 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Constipation, Cleft palate, Recurrent skin infections, Malrotation of small bowel, C... |
ORPHA:2953 |
Meier-Gorlin Syndrome 7 |
|
High palate, Anal atresia, Cleft palate, Anal stenosis, Duodenal stenosis, Cryptorchidism |
OMIM:617063 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Small bowel diverticula, Pyloric stenosis, Recurrent pneumonia, Pyelonephritis, Intrauterine grow... |
ORPHA:90349 |
Isolated Biliary Atresia |
|
Decreased liver function, Fat malabsorption, Atretic gallbladder, Bile duct proliferation, Hypopi... |
ORPHA:30391 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Feeding difficulties, Esophageal varix, Fat malabsorption, Pr... |
ORPHA:731 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Recurrent skin infections, Glomerulonephritis, Malnutrition, Esophageal ... |
ORPHA:79408 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Osteomyelitis, Sinusitis, Decreased response to growth hormone... |
ORPHA:811 |
Immunodeficiency 87 And Autoimmunity |
|
Intrauterine growth retardation, Increased fecal calprotectin level, Cleft palate, Hepatic failur... |
OMIM:619573 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Constipation, Pyoderma, Recurrent skin infections, Vomiting, Esophageal stricture, Malnutrition, ... |
ORPHA:79404 |
Fryns Syndrome |
|
Anal atresia, Duodenal atresia, Stillbirth, Cleft palate, Intestinal malrotation, Ectopic pancrea... |
OMIM:229850 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
High palate, Hiatus hernia, Constipation, Cleft palate, Recurrent skin infections, Intestinal mal... |
OMIM:601776 |
Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Hepatic failure, Bifid uvula, Villous atrophy, Intrauterine growth retardation |
OMIM:222470 |
Abetalipoproteinemia |
|
Steatorrhea, Vomiting, Fat malabsorption, Chronic diarrhea, Keratoconjunctivitis sicca |
ORPHA:14 |
Liver Disease, Severe Congenital |
|
Hydrocele testis, Chronic gastritis, Exocrine pancreatic insufficiency, Recurrent otitis media, A... |
OMIM:619991 |
Fraser Syndrome 1 |
|
Cryptorchidism, Abnormality of the small intestine, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Fanconi Anemia |
|
High palate, Anal atresia, Absent testis, Cleft palate, Tracheoesophageal fistula, Aplasia/Hypopl... |
ORPHA:84 |
Trisomy 8P |
|
Annular pancreas, Constipation, Cleft palate, Malrotation of small bowel, Bifid uvula, Aplasia/Hy... |
ORPHA:264450 |
Alström Syndrome |
|
Precocious puberty in females, Decreased circulating T4 concentration, Type II diabetes mellitus,... |
ORPHA:64 |
Cystinosis, Nephropathic |
|
Male infertility, Delayed puberty, Male hypogonadism, Primary hypothyroidism, Diabetes mellitus |
OMIM:219800 |
Noonan Syndrome 1 |
|
Hypospadias, Cryptorchidism, Male infertility, Hypogonadism |
OMIM:163950 |
Autosomal Dominant Cutis Laxa |
|
Feeding difficulties, Vomiting, Small bowel diverticula, Bronchiectasis, Pyelonephritis, Intraute... |
ORPHA:90348 |
Thrombocytopenia-Absent Radius Syndrome |
|
Meckel diverticulum, Pancreatic cysts, Cleft palate, Seborrheic dermatitis |
OMIM:274000 |
Pmm2-Cdg |
|
Elevated circulating growth hormone concentration, Hyperinsulinemia, Hypogonadotropic hypogonadis... |
ORPHA:79318 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
Down Syndrome |
|
Anal atresia, Macroglossia, Protruding tongue, Duodenal stenosis, Aganglionic megacolon |
OMIM:190685 |
Viss Syndrome |
|
High palate, Chronic gastritis, Eczema, Broad uvula, High, narrow palate, Feeding difficulties, M... |
OMIM:619472 |
Wolf-Hirschhorn Syndrome |
|
Gastroesophageal reflux, Cleft palate, Malrotation of small bowel, Cryptorchidism, Intrauterine g... |
OMIM:194190 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Anal atresia, Narrow palate, Hepatoblastoma, Cleft palate, Macroglossia, Intestinal malrotation, ... |
OMIM:312870 |