| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Decreased testicular size, Hypogonadism, Primary amenorrhea, Decreased circulating follicle stimu... |
OMIM:229070 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Absence of pubertal de... |
OMIM:614837 |
| Spermatogenic Failure 12 |
|
Infertility, Abnormal male germ cell morphology, Azoospermia |
OMIM:615413 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Partial Chromosome Y Deletion |
|
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... |
ORPHA:1646 |
| Isochromosomy Yp |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Male ... |
ORPHA:98797 |
| Orofacial Cleft 15 |
|
Cryptorchidism, Epicanthus, Sparse eyelashes, Upslanted palpebral fissure, Euryblepharon, Bilater... |
OMIM:616788 |
| Spermatogenic Failure 35 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618341 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella |
OMIM:617593 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... |
OMIM:617960 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility |
OMIM:309120 |
| Isochromosomy Yq |
|
Decreased testicular size, Ambiguous genitalia, Primary gonadal insufficiency, Varicocele, Azoosp... |
ORPHA:98798 |
| Spermatogenic Failure 72 |
|
Absent sperm axoneme central pair complex, Reduced progressive sperm motility, Short sperm flagel... |
OMIM:619867 |
| Spermatogenic Failure 34 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:618153 |
| Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility |
OMIM:619689 |
| Spermatogenic Failure 30 |
|
Spermatogenesis maturation arrest, Cryptorchidism, Cryptozoospermia, Azoospermia, Male infertility |
OMIM:618110 |
| Spermatogenic Failure 65 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619712 |
| Spermatogenic Failure 50 |
|
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility |
OMIM:619145 |
| Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... |
OMIM:619528 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Reduced ... |
OMIM:616030 |
| Spermatogenic Failure 33 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618152 |
| Spermatogenic Failure 37 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:618429 |
| Spermatogenic Failure 18 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:617576 |
| Spermatogenic Failure 46 |
|
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... |
OMIM:619095 |
| Spermatogenic Failure 27 |
|
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... |
OMIM:617965 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Decrease... |
OMIM:614897 |
| Spermatogenic Failure 32 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:618115 |
| Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility |
OMIM:619831 |
| Spermatogenic Failure 51 |
|
Macrocephalic sperm head, Microcephalic sperm head, Reduced sperm motility, Absent sperm axoneme ... |
OMIM:619177 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Cryptozoospermia, Short sperm flagella, Coiled sperm flagella, Abnormal s... |
OMIM:619379 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Acephalic spermatozoa, Reduced sperm motility, Androgen insufficiency, Male infertility, Oligospe... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 3 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tai... |
OMIM:301059 |
| Spermatogenic Failure 36 |
|
Abnormal sperm morphology, Male infertility |
OMIM:618420 |
| Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:614822 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... |
OMIM:618751 |
| Spermatogenic Failure 19 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:617592 |
| Spermatogenic Failure 49 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... |
OMIM:619094 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... |
ORPHA:488191 |
| Spermatogenic Failure 56 |
|
Reduced sperm motility, Reduced progressive sperm motility, Short sperm flagella, Coiled sperm fl... |
OMIM:619515 |
| Spermatogenic Failure 80 |
|
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... |
OMIM:620222 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... |
OMIM:618664 |
| Spermatogenic Failure 76 |
|
Reduced sperm motility, Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagell... |
OMIM:620084 |
| Bdv Syndrome |
|
Delayed puberty, Cryptorchidism, Reduced TSH response to thyrotrophin-releasing hormone stimulati... |
OMIM:619326 |
| Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, High palate, Decreased... |
OMIM:308700 |
| Spermatogenic Failure 39 |
|
Reduced sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male ... |
OMIM:618643 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia |
OMIM:619102 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... |
OMIM:618745 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Trimethylaminuria |
|
Neutropenia, Depression, Splenomegaly, Anemia |
OMIM:602079 |
| Spermatogenic Failure 58 |
|
Immotile sperm, Reduced progressive sperm motility, Short sperm flagella, Irregularly shaped sper... |
OMIM:619585 |
| Kallmann Syndrome With Spastic Paraplegia |
|
High palate, Cryptorchidism, Testicular atrophy, Micropenis, Decreased circulating follicle stimu... |
OMIM:308750 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Inc... |
ORPHA:399805 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased circulating follicle stimulating hormone concentration, Decre... |
OMIM:614842 |
| Spermatogenic Failure 24 |
|
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... |
OMIM:617959 |
| Oligodontia |
|
Oligodontia, Widely spaced teeth, Short dental root, Agenesis of mandibular premolar, Delayed eru... |
ORPHA:99798 |
| Spermatogenic Failure 78 |
|
Microcephalic sperm head, Male infertility, Tapered sperm head |
OMIM:620170 |
| Spermatogenic Failure 79 |
|
Coiled sperm flagella, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:620196 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia |
OMIM:618670 |
| Spermatogenic Failure 48 |
|
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility |
OMIM:619108 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
| Ring Chromosome Y Syndrome |
|
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... |
ORPHA:261529 |
| Cleft Lip/Palate |
|
Abnormality of dental eruption, Unilateral cleft palate, Abnormal number of permanent teeth, Peg-... |
ORPHA:199306 |
| Spermatogenic Failure 5 |
|
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility |
OMIM:243060 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Spermatogenic Failure 64 |
|
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619696 |
| 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, Spermatogenesis maturation arrest, Male infertility |
OMIM:619878 |
| Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619645 |
| Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619646 |
| Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility |
OMIM:619937 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Immotile sperm, Male infertility |
OMIM:608653 |
| Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Tooth agenesis, Cleft palate, Non-midline cleft lip, Ankyloblepharon |
ORPHA:1074 |
| Delayed Puberty, Self-Limited |
|
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... |
OMIM:619613 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... |
ORPHA:399808 |
| Spermatogenic Failure 77 |
|
Cryptorchidism, Abnormal circulating luteinizing hormone concentration, Elevated circulating foll... |
OMIM:620103 |
| Spermatogenic Failure 70 |
|
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia |
OMIM:619828 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Abnormality of the dentition, Primary amenorrhe... |
OMIM:300604 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Tapered sperm head, Male infertility |
OMIM:619258 |
| Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Male infertility |
OMIM:617961 |
| Spermatogenic Failure 7 |
|
Immotile sperm, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Hypogonadism, Male |
|
Male hypogonadism, Testicular atrophy, Micropenis, Hypospadias |
OMIM:241100 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Oligomenorrhea, Delayed puberty, Secondary amenorrhea, Abnormality of the Leydig cells, Micropeni... |
OMIM:228300 |
| Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Non-obstructive azoospermia, Azoospermia,... |
OMIM:108420 |
| Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:617187 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Reduced sperm motility, Male infertility |
OMIM:619044 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
| Deafness-Infertility Syndrome |
|
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... |
OMIM:611102 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Anophthalmia, Microphthalmia |
OMIM:600776 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility, Miscarriage |
OMIM:619176 |
| Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased c... |
OMIM:614839 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Abnormality of the ovary, Decreased testicular size, Hypogonadism, Ptosis |
ORPHA:1875 |
| Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Immotile sperm, Male infertility |
OMIM:618091 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Ovarian Dysgenesis 2 |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, H... |
OMIM:300510 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612310 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Delayed puberty, Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, ... |
OMIM:614841 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
| Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
| Spermatogenic Failure 23 |
|
Azoospermia, Male infertility |
OMIM:617707 |
| Ovarian Dysgenesis 9 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating... |
OMIM:619665 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... |
OMIM:612885 |
| Spermatogenic Failure 15 |
|
Spermatogenesis maturation arrest, Abnormal circulating luteinizing hormone concentration, Non-ob... |
OMIM:616950 |
| Pituitary Hormone Deficiency, Combined, 2 |
|
Reduced circulating growth hormone concentration, Abnormal circulating adrenocorticotropin concen... |
OMIM:262600 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:612964 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Bilateral breast hypoplasia... |
ORPHA:52901 |
| Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism |
|
Delayed puberty, Cryptorchidism, Epicanthus, Micropenis, Decreased circulating follicle stimulati... |
OMIM:619761 |
| Hyperprolactinemia |
|
Oligomenorrhea, Female infertility, Increased circulating prolactin concentration, Menorrhagia |
OMIM:615555 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Premature Ovarian Failure 13 |
|
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus... |
OMIM:617442 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Decreased cirrculating antimullerian ho... |
OMIM:619203 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Ovarian Dysgenesis 6 |
|
Absence of pubertal development, Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic ... |
OMIM:618078 |
| 48,Xyyy Syndrome |
|
Irregularly spaced teeth, High palate, Epicanthus, Primary gonadal insufficiency, Enamel hypoplas... |
ORPHA:99329 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
OMIM:618117 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Decreased serum testosterone concentration, Primary amenorrhea, Gonadal dysgenesis with female ap... |
ORPHA:168563 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Anterior pituitary hypoplasia, Central hypothyroidism, Decreased circu... |
ORPHA:453533 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Perrault Syndrome 6 |
|
Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the uterus, Irregular menstrua... |
OMIM:617565 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
| Spermatogenic Failure 38 |
|
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Reduc... |
OMIM:618433 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus, Cleft palate, Male hypogonadism, D... |
ORPHA:432 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Azoospermia, Testicular atrophy |
OMIM:613909 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Microphallus, Absence ... |
OMIM:614840 |
| 48,Xxyy Syndrome |
|
Decreased testicular size, Cryptorchidism, Epicanthus, Taurodontia, Upslanted palpebral fissure, ... |
ORPHA:10 |
| Asherman Syndrome |
|
Oligomenorrhea, Dysmenorrhea, Decreased fertility in females, Miscarriage, Metrorrhagia, Infertil... |
ORPHA:137686 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia |
OMIM:619523 |
| Perrault Syndrome 4 |
|
Oligomenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Hyp... |
OMIM:615300 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Non-obstructi... |
OMIM:618086 |
| Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
| Familial Hyperprolactinemia |
|
Oligomenorrhea, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea, Hemorrhagic ovarian cyst |
ORPHA:397685 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:619245 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Ovarian Dysgenesis 5 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:617690 |
| Müllerian Aplasia And Hyperandrogenism |
|
Increased serum testosterone level, Primary amenorrhea, Abnormality of the ovary, Synophrys, Hypo... |
ORPHA:247768 |
| Partial Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Bilateral cryptorchidism, Male infer... |
ORPHA:90797 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Elevated circulating follicle stimulating hormone level, Hypoplasia of the uterus, Thick eyebrow,... |
ORPHA:572333 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Perrault Syndrome 3 |
|
Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplasia of the ut... |
OMIM:614129 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Micrognathia, Cleft palate, Azoospermia, Bicornuate uterus, Cleft upper... |
OMIM:601076 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Premature ovarian insufficiency, High palate, Hypoplasia of the uterus, Epicanthus i... |
OMIM:110100 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus |
OMIM:608996 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Delayed puberty, Primary amenorrhea, Ambiguous genitalia, Elevated circulating follicle stimulati... |
ORPHA:251510 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Taurodontia, Enamel hypomineralization, Widely spaced teeth, Microdontia, Per... |
ORPHA:3352 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Elsahy-Waters Syndrome |
|
Bifid uvula, Thick eyebrow, Supernumerary tooth, Bilateral cryptorchidism, Anal stenosis, Thick l... |
OMIM:211380 |
| Spermatogenic Failure 14 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:615842 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Oligodontia, Tooth agenesis, Selective tooth agenesis, Anodontia, Aplasia of the maxilla, Agenesi... |
OMIM:313500 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Primary amenorrhea, Short mandibular condyles, Clitoral hypertrophy, Hypopla... |
OMIM:264270 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Increased size of the clitoris, Primary amenorrhea, Abnormality of the ovary,... |
ORPHA:2975 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Delayed puberty, Decreased testicular size, Retrognathia, Congenital ptosis, Decreased response t... |
ORPHA:280679 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Obstructive azoospermia, Male infertility, Spermatocele |
OMIM:301060 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, Micropenis, Abno... |
ORPHA:1916 |
| Holoprosencephaly 9 |
|
Cryptorchidism, Micropenis, Anterior pituitary hypoplasia, Anterior pituitary agenesis, Malar fla... |
OMIM:610829 |
| 46,Xx Testicular Difference Of Sex Development |
|
Polycystic ovaries, Male hypogonadism, Decreased testicular size, Ambiguous genitalia |
ORPHA:393 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia |
OMIM:615703 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:615285 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hyp... |
ORPHA:90796 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligodontia, Synophrys, Abnormality of canine, Cleft palate, Prominence of the zygomatic bone, Cl... |
ORPHA:364577 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Azoospermia, Abnormality of the hypothalamus-pituitary axis, High, narrow palate, Hypergonadotrop... |
ORPHA:2183 |
| Chand Syndrome |
|
Agenesis of permanent teeth, Agenesis of maxillary incisor, Imperforate hymen, Cleft palate, Bifi... |
ORPHA:1401 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Ovarian Dysgenesis 3 |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Fem... |
OMIM:614324 |
| Mohr Syndrome |
|
Telecanthus, High palate, Malar flattening, Accessory oral frenulum, Cleft palate, Median cleft l... |
OMIM:252100 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
| Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
| Specific Granule Deficiency 1 |
|
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... |
OMIM:245480 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| 48,Xxxy Syndrome |
|
Decreased testicular size, Cryptorchidism, Epicanthus, Hypogonadism, Taurodontia, Mandibular prog... |
ORPHA:96263 |
| 46,Xy Sex Reversal 11 |
|
Decreased cirrculating antimullerian hormone circulation, Decreased serum testosterone concentrat... |
OMIM:273250 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| 46,Xy Sex Reversal 4 |
|
Anal atresia, High palate, Agonadism, Hypoplasia of the uterus, Upslanted palpebral fissure, Hype... |
OMIM:154230 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Orofaciodigital Syndrome Type 2 |
|
Telecanthus, High palate, Hypoplasia of teeth, Taurodontia, Talon cusp, Tongue nodules, Peg-shape... |
ORPHA:2751 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:291 |
| Androgen Insensitivity, Partial |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... |
OMIM:312300 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
| Hemochromatosis, Type 2A |
|
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism |
OMIM:602390 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cryptorchidism, Epicanthus, Long eyelashes, Cleft palate, Narrow mouth, Long philtrum, Incisor ma... |
OMIM:615502 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Ambiguous genitalia, Clitoral hypertrophy, Elevated circulating follicle... |
OMIM:612965 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Gonadal dysgenesis, Primary amenorrhea, Hypergonadotropic hypogonadism |
OMIM:607080 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Mandibular prognathia, Cleft palate, Short palpebral fissure, Blepharophimosis, C... |
OMIM:601349 |
| Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... |
ORPHA:98826 |
| Satoyoshi Syndrome |
|
Hypoplasia of the ovary, Abnormality of the ovary, Nephrogenic diabetes insipidus, Hypoplasia of ... |
ORPHA:3130 |
| 49,Xxxxy Syndrome |
|
Decreased testicular size, Cryptorchidism, Epicanthus, Hypogonadism, Taurodontia, Mandibular prog... |
ORPHA:96264 |
| 46,Xy Sex Reversal 1 |
|
Male pseudohermaphroditism, Ambiguous genitalia, Primary amenorrhea, Gonadoblastoma, Elevated cir... |
OMIM:400044 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:617585 |
| Spermatogenic Failure, X-Linked, 4 |
|
Elevated circulating follicle stimulating hormone level, Abnormal prolactin level, Azoospermia, M... |
OMIM:301077 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Autoimmune thrombocytopenia, Pancytopenia, Lymphocytosis, Monocytosis... |
OMIM:614470 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Reduced circulating growth hormone concentration, Decreased testicular size, Decreased cirrculati... |
OMIM:300845 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Abnormality of the dentition, Agenesis of permanent teeth, Polycystic ovaries, Abn... |
ORPHA:2228 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| 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 1 |
|
Female infertility |
OMIM:615774 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Absent circulating B cells, Neutropenia, Abnormal T cell morphology |
OMIM:613501 |
| Gonadoblastoma |
|
Dysgerminoma, Increased serum testosterone level, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:206484 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Proptosis, Hypertelorism |
ORPHA:2165 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... |
OMIM:614172 |
| Leydig Cell Hypoplasia |
|
Primary amenorrhea, Ambiguous genitalia, Abnormal internal genitalia, Testicular gonadoblastoma, ... |
ORPHA:755 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Absent testis, Agonadism, Abnormal morphology of female internal genit... |
ORPHA:983 |
| 49,Xyyyy Syndrome |
|
Decreased testicular size, External genital hypoplasia, Primary gonadal insufficiency, Abnormalit... |
ORPHA:99330 |
| Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Primary amenorrhea, Polycystic ovaries,... |
OMIM:615363 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Death in infancy, Bifid uvula, Bicornuate uterus |
OMIM:258320 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... |
ORPHA:75564 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Ankyloglossia, Widely spaced teeth, Upslanted palpebral fissure, Highly arched eyebrow, Sparse ey... |
OMIM:619841 |
| Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Delayed puberty, Primary amenorrhea, Abnormal eyebrow morphology, Small pituitary gland, Streak o... |
ORPHA:2232 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Cyclopia, Hypoplasia of penis |
ORPHA:990 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
ORPHA:2578 |
| W Syndrome |
|
Broad uvula, Upper lip pit, Downslanted palpebral fissures, Submucous cleft hard palate, Agenesis... |
ORPHA:2804 |
| 47,Xyy Syndrome |
|
Increased serum testosterone level, Cryptorchidism, Micropenis, Malar flattening, Varicocele, Azo... |
ORPHA:8 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Delayed puberty, Cryptorchidism, Diastema, Micropenis, Microdontia, Supernumerary tooth, Agenesis... |
OMIM:619718 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Microphthalmia |
OMIM:164180 |
| Bloom Syndrome |
|
Decreased fertility in females, Cryptorchidism, Malar flattening, Agenesis of maxillary lateral i... |
OMIM:210900 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... |
OMIM:159550 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Infertility, Hypogonad... |
OMIM:146110 |
| Gordon Holmes Syndrome |
|
Oligomenorrhea, Primary amenorrhea, Hypogonadotropic hypogonadism, Secondary amenorrhea, Absence ... |
OMIM:212840 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Premature adrenarche, Abnormal labia majora ... |
ORPHA:90791 |
| Solitary Median Maxillary Central Incisor |
|
Cyclopia, Decreased response to growth hormone stimulation test, Hypotelorism, Anterior hypopitui... |
OMIM:147250 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Cryptorchidism, Retrognathia, High palate, Bifid uvula, Cleft lip, Cleft palate, Nar... |
OMIM:619110 |
| Clark-Baraitser syndrome |
|
Downslanted palpebral fissures, Prominent median palatal raphe, Exaggerated median tongue furrow,... |
OMIM:300602 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia, Decreased testicular size, Mandibular prognathia, Upslanted palpebral fissure, Hypo... |
ORPHA:93950 |
| Atkin-Flaitz Syndrome |
|
Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late... |
ORPHA:1193 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism |
ORPHA:2229 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating luteinizing hormone level, Reduced response to gonadotropin-releasing hormo... |
OMIM:619755 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Cyclopia, Cryptorchidism, Hypoplasia of the premaxilla, Ambiguous genitalia, Umbil... |
ORPHA:2166 |
| Hydatidiform Mole |
|
Miscarriage, Menometrorrhagia, Hyperthyroidism, Enlarged uterus |
ORPHA:99927 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Secondary amenorrhea, Elevate... |
OMIM:619938 |
| Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Decreased fertility, Ectopic anus, Secondary amenorrhea, Hypogonadotropic hyp... |
ORPHA:1643 |
| Popliteal Pterygium Syndrome |
|
Cryptorchidism, Bifid uvula, Hypoplasia of the uterus, Hypoplastic labia majora, Cleft palate, In... |
OMIM:119500 |
| Immunodeficiency 46 |
|
Neutropenia, Intermittent thrombocytopenia, Anemia |
OMIM:616740 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue inappropriate for... |
ORPHA:261519 |
| Filippi Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Serrated incisors, Abnormality of dental morphology, Microdo... |
OMIM:272440 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
| Florid Cemento-Osseous Dysplasia |
|
Periapical bone loss, Abnormal cementum morphology, Atrophy of alveolar ridges, Abnormality of pr... |
ORPHA:83451 |
| Joubert Syndrome 26 |
|
Micropenis, Central hypothyroidism, Cleft lip, Decreased response to growth hormone stimulation t... |
OMIM:616784 |
| Fetal Akinesia Deformation Sequence 4 |
|
High palate, Cryptorchidism, Retrognathia, Neonatal death, Prenatal death, Micrognathia |
OMIM:618393 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Cleft palate, Cryptorchidism, Hypogonadotropic hypogonadism, Cleft lip |
OMIM:612370 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
| 8Q22.1 Microdeletion Syndrome |
|
Telecanthus, Cryptorchidism, Abnormality of the dentition, Hypogonadism, Sparse eyelashes, Submuc... |
ORPHA:178303 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Microphthalmia |
OMIM:613885 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Ovarian Fibrothecoma |
|
Increased serum testosterone level, Abnormal endometrium morphology, Abnormality of the ovary, Go... |
ORPHA:314478 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty |
ORPHA:3000 |
| Mosaic Trisomy 14 |
|
High palate, Cryptorchidism, Cleft palate, Hypoplasia of penis, Ectopic anus, Micrognathia, Bleph... |
ORPHA:1703 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Complete Androgen Insensitivity Syndrome |
|
Aplasia/Hypoplasia of the fallopian tube, Delayed puberty, Increased serum testosterone level, Ab... |
ORPHA:99429 |
| Zimmermann-Laband Syndrome |
|
Macroglossia, Telecanthus, High palate, Long eyelashes, Bifid uvula, Downslanted palpebral fissur... |
ORPHA:3473 |
| Fetal Akinesia Deformation Sequence 2 |
|
High palate, Cryptorchidism, Downslanted palpebral fissures, Cleft palate, Tented upper lip vermi... |
OMIM:618388 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
| Kennedy Disease |
|
Decreased fertility, Erectile dysfunction, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
| 46,Xy Sex Reversal 7 |
|
Dysgerminoma, Primary amenorrhea, Gonadoblastoma, Hypoplasia of the fallopian tube, Hypoplasia of... |
OMIM:233420 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Epicanthus, Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bila... |
ORPHA:1772 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conical tooth, Micropenis, Selective tooth agenesis, Supernumerary nipple, Vaginal dryness, Widel... |
OMIM:106260 |
| Cornelia De Lange Syndrome 5 |
|
Decreased testicular size, Cryptorchidism, Retrognathia, Micropenis, Hypogonadism, High palate, L... |
OMIM:300882 |
| Functioning Gonadotropic Adenoma |
|
Delayed puberty, Isosexual precocious puberty, Abnormality of the menstrual cycle, Adrenocorticot... |
ORPHA:91348 |
| Congenital Myopathy 13 |
|
High palate, Cryptorchidism, Downslanted palpebral fissures, Cleft palate, Short palpebral fissur... |
OMIM:255995 |
| 46,Xx Sex Reversal 1 |
|
Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level, Azoospermia, Ovote... |
OMIM:400045 |
| 8P11.2 Deletion Syndrome |
|
High palate, Cryptorchidism, Epicanthus, Hypogonadism, Upslanted palpebral fissure, Hypoplasia of... |
ORPHA:251066 |
| Estrogen Resistance Syndrome |
|
Primary amenorrhea, Breast hypoplasia, Hypoplasia of the uterus, Hyperinsulinemia, Increased circ... |
ORPHA:785 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Inc... |
ORPHA:90793 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed puberty, Open mouth, High palate, Long eyelashes, Decreased response to growth hormone st... |
OMIM:615866 |
| Seckel Syndrome 5 |
|
Oligodontia, Cryptorchidism, Retrognathia, Selective tooth agenesis, High palate, Clitoral hypert... |
OMIM:613823 |
| Rubinstein-Taybi Syndrome 2 |
|
High palate, Epicanthus, Retrognathia, Long eyelashes, Downslanted palpebral fissures, Talon cusp... |
OMIM:613684 |
| Ovarian Dysgenesis 10 |
|
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, El... |
OMIM:619834 |
| Microform Holoprosencephaly |
|
Cyclopia, Iris coloboma, Ambiguous genitalia, Hypoplasia of penis, Hypotelorism, Panhypopituitarism |
ORPHA:280200 |
| 46,Xx Sex Reversal 2 |
|
Perineal hypospadias, Decreased serum testosterone concentration, Micropenis, Hypoplasia of the v... |
OMIM:278850 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia |
ORPHA:83461 |
| Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone |
|
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... |
OMIM:202150 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia |
ORPHA:48 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Delayed puberty, High palate, Cryptorchidism, Micropenis, Primary amenorrhea, Cleft lip, Small pi... |
OMIM:612702 |
| Trichothiodystrophy 2, Photosensitive |
|
Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Oligomenorrhea, Polycystic ovaries, Hyperinsulinemia, Infertility, Abnormal circulating hormone c... |
ORPHA:280356 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Small pituitary gland,... |
OMIM:614880 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abscess, Neutropenia, B lymphocytopenia, Splenomegaly, Abnormal CD... |
OMIM:150550 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Polycystic ovaries, Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis |
ORPHA:242 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Aarskog-Scott Syndrome |
|
Cryptorchidism, Shawl scrotum, Abnormality of the dentition, Epicanthus, Downslanted palpebral fi... |
ORPHA:915 |
| Premature Ovarian Failure 5 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Primary amenorrhea, Reduced antral foll... |
OMIM:611548 |
| Leptin Deficiency Or Dysfunction |
|
Decreased testicular size, Micropenis, Hypogonadism, Primary amenorrhea, Decreased serum leptin |
OMIM:614962 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Cyclopia, Cryptorchidism, Micropenis, Hypotelorism, Bicornuate uterus |
OMIM:264480 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Hemochromatosis, Type 1 |
|
Testicular atrophy, Diabetes mellitus, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Ame... |
OMIM:235200 |
| Woodhouse-Sakati Syndrome |
|
Delayed puberty, Premature ovarian insufficiency, Decreased testicular size, Micropenis, Hypogona... |
ORPHA:3464 |
| Ring Chromosome 21 Syndrome |
|
Infertility, Azoospermia, Diabetes insipidus, Amenorrhea |
ORPHA:1445 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Dysmenorrhea, Hydrocolpos, Dyspareunia, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix m... |
ORPHA:3411 |
| Holoprosencephaly 3 |
|
Cyclopia, Malar flattening, Hypotelorism, Proptosis, Central diabetes insipidus |
OMIM:142945 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:598500 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Absent outer dynein arms, Azoospermia, Chronic sinusitis |
OMIM:618300 |
| Polycystic Ovary Syndrome 1 |
|
Oligomenorrhea, Enlarged polycystic ovaries, Amenorrhea |
OMIM:184700 |
| Facial Clefting, Oblique, 1 |
|
Microphthalmia |
OMIM:600251 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Oligomenorrhea, Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Amenorrhea |
ORPHA:2795 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Primary amenorrhea, Elevated circulating follicle stimulating ho... |
OMIM:615723 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Premature Ovarian Failure 9 |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating follicle stimulati... |
OMIM:615724 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism |
OMIM:614851 |
| Aarskog-Scott Syndrome |
|
Delayed puberty, Cryptorchidism, Testicular atrophy, Shawl scrotum, Elevated circulating follicle... |
OMIM:305400 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
| Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
| Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
| Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
| Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
| Meningioma |
|
Decreased serum testosterone concentration, Increased circulating prolactin concentration, Neopla... |
ORPHA:2495 |
| Testicular Agenesis |
|
Absent testis, Micropenis, Urethrovaginal fistula, Ambiguous genitalia, Urogenital sinus anomaly,... |
ORPHA:325124 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea |
OMIM:614858 |
| Satoyoshi Syndrome |
|
Malabsorption, Amenorrhea, Hypoplasia of the uterus |
OMIM:600705 |
| Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Decreased testicular size, Cryptorchidism, Hypoplasia of the maxilla, High palate |
ORPHA:85279 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Delayed puberty, Downslanted palpebral fissures, Nephrogenic diabetes insipidus, Supernumerary to... |
ORPHA:3145 |
| Cortisone Reductase Deficiency 1 |
|
Oligomenorrhea, Precocious puberty, Infertility |
OMIM:604931 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Macroglossia, Hypopituitarism, Inappropriate antidiuretic hormone secretion, Anterior pituitary h... |
ORPHA:226307 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Ambiguous genitalia, Polycystic... |
ORPHA:2138 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Myhre Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft palate, Short palpebral fissure, Narrow mouth, Abnormal ... |
ORPHA:2588 |
| Aregenerative Anemia |
|
Emotional lability, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thrombocytope... |
ORPHA:101096 |
| Trisomy 18 |
|
Cyclopia, Cryptorchidism, Iris coloboma, Abnormal morphology of female internal genitalia, Spina ... |
ORPHA:3380 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Thrombocytopen... |
OMIM:300835 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Adenoma sebaceum, Tooth agenesis, Abnormal morphology of female internal genitalia, Abnormality o... |
ORPHA:3353 |
| Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Tooth agenesis, Epicanthus, Abnormal eyelash morphology, Cleft palate, Sparse lat... |
ORPHA:1252 |
| Distal Deletion 10P |
|
Anal atresia, Cryptorchidism, Polycystic ovaries, Downslanted palpebral fissures, Cleft palate, H... |
ORPHA:1580 |
| Adams-Oliver Syndrome 4 |
|
Umbilical hernia, Microphthalmia |
OMIM:615297 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
| Developmental And Epileptic Encephalopathy 66 |
|
Cryptorchidism, Synophrys, Widely spaced teeth, Downslanted palpebral fissures, Everted lower lip... |
OMIM:618067 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Reduced circulating growth hormone concentration, Decreased circulating follicle stimulating horm... |
OMIM:613986 |
| X-Linked Intellectual Disability, Abidi Type |
|
Decreased testicular size, Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
| Ovarian Fibroma |
|
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the jaw |
ORPHA:314473 |
| Holoprosencephaly |
|
Encephalocele, Spinal dysraphism, Cyclopia, Cryptorchidism, Iris coloboma, Hypoplasia of the zygo... |
ORPHA:2162 |
| Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Absent vas deferens, Azoospermia, Male infertility |
OMIM:300985 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Absent vas deferens, Male infertility |
OMIM:277180 |
| Aromatase Deficiency |
|
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Type II d... |
ORPHA:91 |
| Hepatic Adenomas, Familial |
|
Polycystic ovaries, Maturity-onset diabetes of the young |
OMIM:142330 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Acrodysostosis |
|
Open mouth, Cryptorchidism, Epicanthus, Hypogonadism, Mandibular prognathia, Irregular menstruati... |
ORPHA:950 |
| Tetragametic Chimerism |
|
Perineal hypospadias, Cryptorchidism, Micropenis, Ambiguous genitalia, Gonadal dysgenesis with fe... |
ORPHA:199310 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Hydrocele testis |
OMIM:620062 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level |
OMIM:311360 |
| Hemochromatosis, Type 3 |
|
