| Testicular Torsion |
|
Torsion of appendix of testis, Testicular torsion |
OMIM:187400 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia, Abnormal male germ cell morphology |
OMIM:615413 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Hypogonadotropic Hypogonadism 24 Without Anosmia |
|
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism |
OMIM:229070 |
| Isochromosomy Yp |
|
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... |
ORPHA:98797 |
| Partial Chromosome Y Deletion |
|
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... |
ORPHA:1646 |
| Orofacial Cleft 15 |
|
Cryptorchidism, Agenesis of lateral incisor, Sparse eyebrow, Sparse eyelashes, Upslanted palpebra... |
OMIM:616788 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Isochromosomy Yq |
|
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... |
ORPHA:98798 |
| Spermatogenic Failure 35 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Spermatogenic Failure 25 |
|
Decreased testicular size, Azoospermia, Cryptozoospermia |
OMIM:617960 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:619245 |
| Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
| Spermatogenic Failure 50 |
|
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest |
OMIM:619145 |
| Spermatogenic Failure 46 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... |
OMIM:619095 |
| Spermatogenic Failure, X-Linked, 2 |
|
Testicular atrophy, Male infertility, Azoospermia |
OMIM:309120 |
| Spermatogenic Failure 11 |
|
Infertility, Abnormal sperm morphology |
OMIM:615081 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Intellectual Developmental Disorder And Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Hyperinsulinemi... |
OMIM:619326 |
| Spermatogenic Failure, X-Linked, 3 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... |
OMIM:301059 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, Mi... |
OMIM:308700 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Spermatogenic Failure 43 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... |
OMIM:619094 |
| Severe Primary Trimethylaminuria |
|
Negative affectivity, Low self esteem, Aggressive behavior, Depression, Emotional lability, Anxiety |
ORPHA:468726 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Spermatogenic Failure 40 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... |
OMIM:618664 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
| Spermatogenic Failure 51 |
|
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... |
OMIM:619177 |
| Spermatogenic Failure 54 |
|
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... |
OMIM:619379 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hypoplasia of the ... |
OMIM:300510 |
| Oligodontia |
|
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... |
ORPHA:99798 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Spermatogenic Failure 47 |
|
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility |
OMIM:619102 |
| Trimethylaminuria |
|
Depression, Neutropenia, Anemia, Splenomegaly |
OMIM:602079 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Micropenis, Dec... |
OMIM:308750 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... |
ORPHA:399805 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia |
OMIM:619108 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Infertility, Abnormal sperm morphology |
OMIM:608653 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... |
ORPHA:52901 |
| Spermatogenic Failure 39 |
|
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... |
OMIM:618643 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Abnormal number of permanent teeth, Oral cleft, Peg-shaped maxillary... |
ORPHA:199306 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Spermatogenic Failure 42 |
|
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... |
OMIM:618745 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... |
ORPHA:529970 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Ankyloblepharon, Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
| Ring Chromosome Y Syndrome |
|
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... |
ORPHA:261529 |
| Spermatogenic Failure 1 |
|
Male infertility, Oligospermia, Cryptozoospermia |
OMIM:258150 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... |
ORPHA:399808 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
| Spermatogenic Failure 24 |
|
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... |
OMIM:617959 |
| Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
| Spermatogenic Failure 41 |
|
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility |
OMIM:618670 |
| Young Syndrome |
|
Decreased fertility, Obstructive azoospermia |
ORPHA:3471 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... |
OMIM:614837 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Microphthalmia, Isolated 3 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... |
OMIM:202700 |
| Premature Ovarian Failure 7 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Primary amenorrhea, Sec... |
OMIM:612964 |
| Spermatogenic Failure 2 |
|
Azoospermia, Oligospermia |
OMIM:108420 |
| Spermatogenic Failure 7 |
|
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia |
OMIM:612997 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Decreased testicular size, Hypogonadism, Ptosis, Abnormality of the ovary |
ORPHA:1875 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... |
OMIM:612310 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
| Ovarian Dysgenesis 7 |
|
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:618117 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Male hypogonadism, Azoospermia |
OMIM:241000 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
| Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... |
OMIM:612885 |
| Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Cryptorchidism, Decreased testicular size, Hypoplasia of the uterus, Decreased circulating gonado... |
OMIM:614841 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Tetrasomy X |
|
Upslanted palpebral fissure, Epicanthus, Premature ovarian insufficiency, Abnormality of the dent... |
ORPHA:9 |
| Premature Ovarian Failure 2B |
|
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea, Abnormality of the dentition |
OMIM:300604 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
| Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Hypogonadotropic Hypogonadism 23 Without Anosmia |
|
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... |
OMIM:228300 |
| Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos |
OMIM:613703 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Endometriosis, Dysmenorrhea |
OMIM:131200 |
| Perrault Syndrome 6 |
|
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
| Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cryptorchidism, Male hypogonadism, Increased female libido, Delayed puberty, Secondary amenorrhea... |
ORPHA:432 |
| Oocyte Maturation Defect 9 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:619011 |
| Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Male infertility, Azoospermia |
ORPHA:276183 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia |
OMIM:615285 |
| 48,Xyyy Syndrome |
|
Enamel hypoplasia, Long philtrum, Male hypogonadism, Azoospermia, Irregularly spaced teeth, Epica... |
ORPHA:99329 |
| Spermatogenic Failure 38 |
|
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... |
OMIM:618433 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... |
ORPHA:168563 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Central hypothyroidism, Decreas... |
ORPHA:453533 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Deafness-Infertility Syndrome |
|
Reduced sperm motility, Male infertility, Abnormal spermatogenesis |
OMIM:611102 |
| Familial Hyperprolactinemia |
|
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia |
ORPHA:397685 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... |
OMIM:614840 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
| 48,Xxyy Syndrome |
|
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... |
ORPHA:10 |
| Perrault Syndrome 4 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... |
OMIM:615300 |
| Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
| Premature Ovarian Failure 3 |
|
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency |
OMIM:608996 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Duplicated lacrimal punctum, Female infertility, Secondary amenorrhea, Punctal stenosis, Elevated... |
ORPHA:572333 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... |
ORPHA:755 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Highly arched eyebrow, Increased circulating gonadotropin level, Blepharophimosis, Amenorrhea, Ir... |
OMIM:110100 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis |
OMIM:614897 |
| 46,Xx Testicular Disorder Of Sex Development |
|
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries |
ORPHA:393 |
| Müllerian Aplasia And Hyperandrogenism |
|
Abnormality of the ovary, Short philtrum, Abnormal vagina morphology, Hypoplasia of the uterus, P... |
ORPHA:247768 |
| Oocyte Maturation Defect 2 |
|
Female infertility, Oocyte arrest at metaphase I |
OMIM:616780 |
| Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia |
OMIM:277180 |
| Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
| Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
| Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
| Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
| Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia |
OMIM:415000 |
| Bloom Syndrome |
|
Cryptorchidism, Decreased fertility in females, Agenesis of maxillary lateral incisor, Azoospermi... |
OMIM:210900 |
| Partial Androgen Insensitivity Syndrome |
|
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... |
ORPHA:90797 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Cryptorchidism, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... |
OMIM:146110 |
| Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... |
ORPHA:251510 |
| Premature Ovarian Failure 5 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea |
OMIM:611548 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus, Cleft upper lip, Cleft palate, Microgna... |
OMIM:601076 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Long philtrum, Azoospermia, Congenital ptosis, Hypergonadotropic hypogonadism, Delayed puberty, D... |
ORPHA:280679 |
| Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus, Primary amenorrhea |
OMIM:617690 |
| Tricho-Dento-Osseous Syndrome |
|
Dental enamel pits, Taurodontia, Periapical tooth abscess, Agenesis of incisor, Enamel hypominera... |
ORPHA:3352 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Anxiety, Depression |
OMIM:164230 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... |
ORPHA:1916 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Panhypopituitarism, Cryptorchidism, Short philtrum, Micropenis, Age... |
OMIM:610829 |
| Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Ambiguous genitalia, Clitoral hypertrophy, Primary amenorrhea, Short mandibular condyles, Hypopla... |
OMIM:264270 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Microphthalmia, Anophthalmia |
OMIM:221950 |
| Premature Ovarian Failure 2A |
|
Secondary amenorrhea, Premature ovarian insufficiency |
OMIM:300511 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... |
OMIM:614172 |
| Spermatogenic Failure 28 |
|
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... |
OMIM:618086 |
| Perrault Syndrome 3 |
|
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614129 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Oligodontia, Anodontia, Hypodontia, Tooth agenesis, Agenesis of prem... |
OMIM:313500 |
| Gordon Holmes Syndrome |
|
Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea |
OMIM:212840 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... |
OMIM:619041 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... |
ORPHA:90796 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Neutropenia, Anemia |
OMIM:614082 |
| Xq27.3Q28 Duplication Syndrome |
|
Cryptorchidism, Thin vermilion border, Decreased testicular size, Hypogonadism, Premature ovarian... |
ORPHA:261483 |
| Morbid Obesity And Spermatogenic Failure |
|
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia |
OMIM:615703 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Specific Granule Deficiency 2 |
|
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia |
OMIM:617475 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... |
ORPHA:2228 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hypoplasia of the uterus |
OMIM:614842 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Long philtrum, Azoospermia, Hypergonadotropic hypogonadism, Ptosis, Decreased testicular size, Re... |
OMIM:300845 |
| Premature Ovarian Failure 1 |
|
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency |
OMIM:311360 |
| Chand Syndrome |
|
Commissural lip pit, Imperforate hymen, Agenesis of permanent teeth, Agenesis of maxillary inciso... |
ORPHA:1401 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Oligodontia, Agenesis of central incisor, Abnormality of canine, Pierre-Robin sequence, Everted l... |
ORPHA:364577 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, High, narrow palate, Azoospermia, Abnormality of the hypothalamus... |
ORPHA:2183 |
| Mohr Syndrome |
|
Accessory oral frenulum, Agenesis of central incisor, Tongue nodules, Bifid tongue, Lobulated ton... |
OMIM:252100 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... |
OMIM:245480 |
| Orofaciodigital Syndrome Type 2 |
|
Talon cusp, Agenesis of central incisor, Hypoplasia of teeth, Taurodontia, Tongue nodules, Natal ... |
ORPHA:2751 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616570 |
| 48,Xxxy Syndrome |
|
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... |
ORPHA:96263 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... |
OMIM:273250 |
| Congenital Varicella Syndrome |
|
Intrauterine growth retardation, Microphthalmia |
ORPHA:291 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia |
ORPHA:231401 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea |
OMIM:615363 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Male hypogonadism, Absent eyelashes, Hypothyroidism, Absent eyebrow, Conical tooth, Premature ova... |
OMIM:618625 |
| Premature Ovarian Failure 9 |
|
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea |
OMIM:615724 |
| Pallister W Syndrome |
|
Agenesis of central incisor, Agenesis of maxillary central incisor, Broad uvula, Downslanted palp... |
OMIM:311450 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
| 46,Xy Sex Reversal 3 |
|
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... |
OMIM:612965 |
| Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Premature ovarian insufficiency, Abnormality of the dentition |
ORPHA:2278 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Xp22.3 Microdeletion Syndrome |
|
Polycystic ovaries, Ectopic anus, Secondary amenorrhea, Hypogonadotropic hypogonadism, Decreased ... |
ORPHA:1643 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Androgen Insensitivity, Partial |
|
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... |
OMIM:312300 |
| Hemochromatosis, Type 2A |
|
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea |
OMIM:602390 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Hypergonadotropic hypogonadism, Gonadal dysgenesis, Primary amenorrhea |
OMIM:607080 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Ptosis, Precocious puberty, Polycystic ovaries |
ORPHA:2229 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Thrombocytopenia 5 |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:616216 |
| 49,Xxxxy Syndrome |
|
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Cryptorch... |
ORPHA:96264 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Cleft palate, Decreased testicular siz... |
OMIM:614880 |
| Refractory Anemia |
|
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... |
ORPHA:98826 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Blepharophimosis, Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Ptosis, Premature ova... |
ORPHA:126 |
| Testicular Regression Syndrome |
|
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... |
ORPHA:983 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... |
OMIM:614470 |
| Microphthalmia, Syndromic 8 |
|
Cryptorchidism, Blepharophimosis, Mandibular prognathia, Oral cleft, Short palpebral fissure, Cle... |
OMIM:601349 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Hypertelorism, Cyclopia, Proptosis |
ORPHA:2165 |
| Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
| Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
| Mental Retardation, Autosomal Dominant 21 |
|
Cryptorchidism, Thin vermilion border, Long philtrum, Narrow mouth, Incisor macrodontia, Epicanth... |
OMIM:615502 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
| Satoyoshi Syndrome |
|
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Amenorrhea, ... |
ORPHA:3130 |
| 46,Xy Sex Reversal 1 |
|
Ambiguous genitalia, Abnormality of the menstrual cycle, Elevated circulating luteinizing hormone... |
OMIM:400044 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Mandibular aplasia, Cyclopia, Hypoplasia of penis |
ORPHA:990 |
| 47,Xyy Syndrome |
|
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Micropenis, ... |
ORPHA:8 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Bicornuate uterus, Death in infancy, Cleft palate |
OMIM:258320 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Cryptorchidism, Delayed puberty, Aplasia of the ovary, Hypergonadotropic hypogonadism, Absence of... |
ORPHA:2232 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia |
ORPHA:2578 |
| 49,Xyyyy Syndrome |
|
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... |
ORPHA:99330 |
| Adrenal Hypoplasia, Congenital |
|
Cryptorchidism, Adrenal hypoplasia, Azoospermia, Oligospermia, Decreased circulating cortisol lev... |
OMIM:300200 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... |
ORPHA:75564 |
| Gonadoblastoma |
|
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Female external genitalia in individ... |
ORPHA:206484 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia |
OMIM:613885 |
| W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Downslanted palpebral fissures... |
ORPHA:2804 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| 3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Premature ovarian insufficiency |
ORPHA:75325 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Azoospermia |
OMIM:615234 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Upslanted palpebral fissure, Mandibular prognathia, Anal atresia, Decreased testicular size, Hypo... |
ORPHA:93950 |
| Solitary Median Maxillary Central Incisor |
|
Coloboma, Cyclopia, Hypotelorism, Anterior hypopituitarism, Decreased response to growth hormone ... |
OMIM:147250 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Decreased circulating ... |
ORPHA:90791 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Ambiguous genitalia, Thin vermilion border, Azoospermia, Gonadal tissue inappropriate for externa... |
ORPHA:261519 |
| Clark-Baraitser syndrome |
|
Macroorchidism, Maxillary lateral incisor microdontia, Downslanted palpebral fissures, Exaggerate... |
OMIM:300602 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Hyperprolactinemia |
|
Infertility, Menorrhagia, Increased circulating prolactin concentration, Oligomenorrhea |
OMIM:615555 |
| Myopathy, Congenital, Bailey-Bloch |
|
Cryptorchidism, Downturned corners of mouth, Blepharophimosis, Short palpebral fissure, Ptosis, C... |
OMIM:255995 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Popliteal Pterygium Syndrome |
|
Cryptorchidism, Bifid scrotum, Scrotal hypoplasia, Hypoplasia of the uterus, Ankyloblepharon, Hyp... |
OMIM:119500 |
| Atkin-Flaitz Syndrome |
|
Everted lower lip vermilion, Macroorchidism, Abnormality of the dentition, Thick vermilion border... |
ORPHA:1193 |
| Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:612527 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Joubert Syndrome 26 |
|
Panhypopituitarism, Central hypothyroidism, Ptosis, Cleft lip, Cleft palate, Micropenis, Decrease... |
OMIM:616784 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries |
ORPHA:242 |
| Transcobalamin Deficiency |
|
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia |
ORPHA:859 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... |
ORPHA:90793 |
| Young Syndrome |
|
Azoospermia |
OMIM:279000 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Abnormal circulating fol... |
ORPHA:99429 |
| Ciliary Dyskinesia, Primary, 40 |
|
Infertility, Azoospermia |
OMIM:618300 |
| 8Q22.1 Microdeletion Syndrome |
|
Cryptorchidism, Long philtrum, Highly arched eyebrow, Blepharophimosis, Sparse eyelashes, Hypopla... |
ORPHA:178303 |
| Premature Ovarian Failure 16 |
|
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... |
OMIM:618723 |
| Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Neutropenia, Thrombocytopenia, Irritability, Leukopenia |
OMIM:229050 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:603552 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Cleft lip, Cleft palate |
OMIM:612370 |
| Premature Ovarian Failure 17 |
|
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... |
OMIM:619146 |
| Spermatogenic Failure 4 |
|
Azoospermia, Recurrent spontaneous abortion |
OMIM:270960 |
| Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus |
ORPHA:481 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... |
OMIM:615723 |
| Atkin-Flaitz Syndrome |
|
Macroorchidism, Maxillary lateral incisor microdontia, Downslanted palpebral fissures, Exaggerate... |
OMIM:300431 |
| Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
| Zimmermann-Laband Syndrome |
|
Macroglossia, Gingival fibromatosis, Wide mouth, Long eyelashes, Hypodontia, Anterior open-bite m... |
ORPHA:3473 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... |
OMIM:300835 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Familial Male-Limited Precocious Puberty |
|
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty |
ORPHA:3000 |
| Functioning Gonadotropic Adenoma |
|
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Anterior hypopituitarism, Pit... |
ORPHA:91348 |
| Mosaic Trisomy 14 |
|
Cryptorchidism, Blepharophimosis, Wide mouth, Hypospadias, Cleft palate, Ectopic anus, Ptosis, Hy... |
ORPHA:1703 |
| 8P11.2 Deletion Syndrome |
|
Cryptorchidism, Azoospermia, Blepharophimosis, Upslanted palpebral fissure, Epicanthus, Hypoplasi... |
ORPHA:251066 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Hyperinsulinemia, Oligomenorrhea, Polycystic ovaries, Abnormal circulating hormone c... |
ORPHA:280356 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Abnormality of the mouth, Decreased fertility |
OMIM:313200 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of the premaxilla, Cryptorchidism, Ambiguous genitalia, Cyclopia, Micrognathia, Umbili... |
ORPHA:2166 |
| Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... |
ORPHA:785 |
| 46,Xx Sex Reversal 1 |
|
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... |
OMIM:400045 |
| 46,Xy Sex Reversal 7 |
|
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... |
OMIM:233420 |
| Kennerknecht Syndrome |
|
Hypoplasia of the uterus, Long eyelashes, Hypodontia, Malrotation of colon, High palate, Agonadism |
OMIM:600908 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, High palate, M... |
ORPHA:1772 |
| Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:248450 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Abnormality of the endometrium, Metrorrhagia, Gonadal calcification, Ab... |
ORPHA:314478 |
| Fetal Akinesia Deformation Sequence 2 |
|
Cryptorchidism, Tented upper lip vermilion, Cleft palate, Downslanted palpebral fissures, High pa... |
OMIM:618388 |
| Arthrogryposis, Distal, Type 1C |
|
Pursed lips, Cryptorchidism, Thin vermilion border, Narrow mouth, Blepharophimosis, Cleft lip, Cl... |
OMIM:619110 |
| Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Neutropenia, Anemia |
OMIM:616740 |
| 46,Xx Sex Reversal 2 |
|
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... |
OMIM:278850 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia |
OMIM:164180 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Cryptorchidism, Small pituitary gland, Primary amenorrhea, Cleft lip, Hypogonadotropic hypogonadi... |
OMIM:612702 |
| Hepatic Adenomas, Familial |
|
Maturity-onset diabetes of the young, Polycystic ovaries |
OMIM:142330 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia |
ORPHA:48 |
| Craniofacial-Deafness-Hand Syndrome |
|
Hypertelorism, Malar flattening, Hypoplasia of the maxilla |
OMIM:122880 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
| Cornelia De Lange Syndrome 5 |
|
Cryptorchidism, Thin vermilion border, Long philtrum, Highly arched eyebrow, Downturned corners o... |
OMIM:300882 |
| Meningioma |
|
Decreased circulating ACTH level, Decreased circulating follicle stimulating hormone concentratio... |
ORPHA:2495 |
| 46,Xx Ovotesticular Disorder Of Sex Development |
|
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... |
ORPHA:2138 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Woodhouse-Sakati Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Decreased testicular size, Hypoplasia of the fallopian tube, Ab... |
ORPHA:3464 |
| Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia, Microphthalmia |
ORPHA:83461 |
| Fowler Urethral Sphincter Dysfunction Syndrome |
|
Abnormality of the ovary, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Menorrhagia, Abnormalit... |
ORPHA:2795 |
| Hypersecretion Of Adrenal Androgens, Familial |
|
Increased circulating androgen concentration, Adrenal overactivity, Premature pubarche, Amenorrhea |
OMIM:145295 |
| Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
| Microform Holoprosencephaly |
|
Panhypopituitarism, Ambiguous genitalia, Cyclopia, Iris coloboma, Hypoplasia of penis, Hypotelorism |
ORPHA:280200 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Neutropenia, Anemia |
OMIM:617243 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Panhypopituitarism, Macroglossia, Decreased circulating ACTH level, Decreased circulating follicl... |
ORPHA:226307 |
| Distal Monosomy 10P |
|
Cryptorchidism, Non-midline cleft lip, Polycystic ovaries, Cleft palate, Ectopic anus, Anal atres... |
ORPHA:1580 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Vaginal dryness, Lacrimal duct atresia, Absent eyelashes, Sparse eyelashes, Ankyloblepharon, Hypo... |
OMIM:106260 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Long philtrum, Everted lower lip vermilion, Epicanthus... |
ORPHA:915 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis |
OMIM:616030 |
| Ring Chromosome 21 Syndrome |
|
Infertility, Diabetes insipidus, Azoospermia, Amenorrhea |
ORPHA:1445 |
| Fanconi Anemia, Complementation Group J |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:609054 |
| Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
| Hemochromatosis, Type 1 |
|
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... |
OMIM:235200 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Hydatidiform Mole |
|
Enlarged uterus, Spontaneous abortion, Hyperthyroidism, Menometrorrhagia |
ORPHA:99927 |
| Au-Kline Syndrome |
|
Cryptorchidism, Oligodontia, Downturned corners of mouth, Open mouth, Ptosis, Long palpebral fiss... |
OMIM:616580 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Cortisone Reductase Deficiency 1 |
|
Infertility, Precocious puberty, Oligomenorrhea |
OMIM:604931 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
High, narrow palate, Premature ovarian insufficiency |
OMIM:618124 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... |
OMIM:150550 |
| Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cryptorchidism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Polycystic ovaries, Secondary a... |
ORPHA:3085 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Cleft upper lip, Cleft palate, Hypogonadotropic hypogonadism,... |
OMIM:244200 |
| Seckel Syndrome 7 |
|
Central hypothyroidism, Hypoplasia of the uterus, Primary amenorrhea |
OMIM:614851 |
| Rudiger Syndrome |
|
Ovarian cyst, Bicornuate uterus, Death in infancy, Micropenis |
OMIM:268650 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia |
ORPHA:2688 |
| Holoprosencephaly 3 |
|
Cyclopia, Proptosis, Central diabetes insipidus, Hypotelorism, Malar flattening |
OMIM:142945 |
| Testicular Agenesis |
|
Urethrovaginal fistula, Ambiguous genitalia, Increased circulating gonadotropin level, Absent tes... |
ORPHA:325124 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Double Uterus-Hemivagina-Renal Agenesis Syndrome |
|
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... |
ORPHA:3411 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Cleft lip, Cleft palate, Hypogonadotropic hypogonadism, Decreased testicular size, Micropenis |
OMIM:614838 |
| Pseudotrisomy 13 Syndrome |
|
Cryptorchidism, Cyclopia, Bicornuate uterus, Hypotelorism, Micropenis |
OMIM:264480 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
| Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea, Female pseudohermaphroditism |
OMIM:613546 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
| Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea |
OMIM:184700 |
| Ovarian Dysgenesis 1 |
|
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea |
OMIM:233300 |
| Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis |
OMIM:614962 |
| Taurodontism, Microdontia, And Dens Invaginatus |
|
Microdontia, Dens in dente, Pulp calcification, Taurodontia |
OMIM:313490 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Thrombocytopenia, Chronic neutropenia |
OMIM:619301 |
| Asherman Syndrome |
|
Infertility, Decreased fertility in females, Abnormality of the menstrual cycle, Oligomenorrhea, ... |
ORPHA:137686 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Mandibular prognathia, High palate, Diastema, Smooth philtrum, Upslanted palpebra... |
OMIM:300534 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar |
OMIM:114700 |
| Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies |
|
Delayed eruption of teeth, Narrow palate, Blepharophimosis, Epicanthus, Anodontia, Supernumerary ... |
OMIM:264475 |
| Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Hypergonadotropic hypogonadism, Hypoplasia of the f... |
OMIM:241080 |
| Satoyoshi Syndrome |
|
Malabsorption, Hypoplasia of the uterus, Amenorrhea |
OMIM:600705 |
| Syndromic X-Linked Intellectual Disability Due To Jarid1C Mutation |
|
High palate, Cryptorchidism, Decreased testicular size, Hypoplasia of the maxilla |
ORPHA:85279 |
| Nablus Mask-Like Facial Syndrome |
|
Cryptorchidism, Long philtrum, Highly arched eyebrow, Narrow mouth, Blepharophimosis, Labial hypo... |
OMIM:608156 |
| Hemochromatosis, Type 3 |
|
Lymphopenia, Neutropenia, Anemia |
OMIM:604250 |
| Acrodysostosis |
|
Open bite, Delayed eruption of teeth, Cryptorchidism, Open mouth, Irregular menstruation, Mandibu... |
ORPHA:950 |
| Aarskog-Scott Syndrome |
|
Cryptorchidism, Elevated circulating luteinizing hormone level, Broad philtrum, Curved linear dim... |
OMIM:305400 |
| Myhre Syndrome |
|
Cryptorchidism, Thin vermilion border, Narrow mouth, Mandibular prognathia, Gingival cleft, Episp... |
ORPHA:2588 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Secondary amenorrhea, Goiter, Premature ovarian insufficiency |
OMIM:617175 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal morphology of female internal genitalia, Abnormality of denta... |
ORPHA:3353 |
| Aregenerative Anemia |
|
Erythroid hypoplasia, Depression, Decreased proportion of CD4-positive helper T cells, Neutropeni... |
ORPHA:101096 |
| Aromatase Deficiency |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... |
ORPHA:91 |
| Rapp-Hodgkin Syndrome |
|
Decreased number of sweat glands, Narrow mouth, Small, conical teeth, Hypodontia, Hypoplastic lab... |
OMIM:129400 |
| Mmep Syndrome |
|
Microphthalmia |
ORPHA:3434 |
| Hemifacial Hyperplasia |
|
Dental malocclusion, Hypoplasia of the maxilla |
OMIM:133900 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Premature ovarian insufficiency, Hypoplasia of the ovary, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
| Blepharonasofacial Malformation Syndrome |
|
Cryptorchidism, Long philtrum, Blepharophimosis, Abnormal eyelash morphology, Epicanthus, Non-mid... |
ORPHA:1252 |
| Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism |
|
Proptosis, Hypoplasia of the maxilla |
OMIM:608432 |
| Non-Functioning Pituitary Adenoma |
|
Male hypogonadism, Pituitary hypothyroidism, Decreased fertility in females, Adrenocorticotropin ... |
ORPHA:91349 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Intrauterine growth retardation, Microphthalmia |
OMIM:616171 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea |
OMIM:277000 |
| Lujan-Fryns Syndrome |
|
Short philtrum, Dental crowding, Macroorchidism, Abnormality of the dentition, High palate, Micro... |
ORPHA:776 |
| Trisomy 18 |
|
Cryptorchidism, Abnormal morphology of female internal genitalia, Spina bifida, Hypertelorism, Cy... |
ORPHA:3380 |
| Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
| Holoprosencephaly |
|
Chorioretinal coloboma, Cryptorchidism, Panhypopituitarism, Hypertelorism, Cyclopia, Branchial an... |
ORPHA:2162 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia |
OMIM:120433 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Carious teeth, Nephrogenic diabetes insipidus, Delayed puberty, Supernumerary tooth, Hypoplasia o... |
ORPHA:3145 |
| Spermatogenic Failure 9 |
|
Globozoospermia |
OMIM:613958 |
| Dens Evaginatus |
|
Talon cusp, Abnormality of the dentition |
OMIM:125280 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia |
OMIM:616738 |
| Tetragametic Chimerism |
|
Cryptorchidism, Abnormality of the ovary, Ambiguous genitalia, Ovotestis, Abnormality of the scro... |
ORPHA:199310 |
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Tooth agenesis, Cleft upper lip, Cleft palate, Hypogonadotrop... |
OMIM:147950 |
| Dens In Dente And Palatal Invaginations |
|
Dens in dente, Abnormality of the dentition |
OMIM:125300 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicular size, Dia... |
OMIM:610628 |
| Rin2 Syndrome |
|
Cryptorchidism, Long philtrum, Hypergonadotropic hypogonadism, Irregular dentition, Abnormal lip ... |
ORPHA:217335 |
| Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess |
OMIM:607676 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... |
OMIM:202010 |
| Pituicytoma |
|
Abnormality of the pituitary gland, Amenorrhea, Pituicytoma, Abnormality of circulating adrenocor... |
ORPHA:251623 |
| Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, And Brachydactyly |
|
Hypospadias, Oligodontia, Microdontia, Supernumerary tooth |
OMIM:191482 |
| X-Linked Intellectual Disability, Abidi Type |
|
Decreased testicular size, Non-midline cleft lip, Cleft palate |
ORPHA:85273 |
| Ovarian Fibroma |
|
Ovarian fibroma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calcification |
ORPHA:314473 |
| Peters-Plus Syndrome |
|
Cryptorchidism, Thin vermilion border, Agenesis of maxillary lateral incisor, Clitoral hypoplasia... |
OMIM:261540 |
| 46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Fused labia minora, Primary amenorrhea, Mandibular condyle hypoplas... |
ORPHA:2975 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Cryptorchidism, Short philtrum, Anal stenosis, Mandibular prognathia, Everted lower lip vermilion... |
OMIM:601499 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Thin vermilion border, Open mouth, Epicanthus, Long eyelashes, Synophrys, ... |
OMIM:617412 |
| 16P13.11 Microdeletion Syndrome |
|
Cryptorchidism, Cyclopia |
ORPHA:261236 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume |
OMIM:618849 |
| Slc35A1-Cdg |
|
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules |
ORPHA:238459 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism, Absence of secondary se... |
ORPHA:2410 |
| Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Adrenal hypoplasia, Telecanthus |
OMIM:619151 |
| Letterer-Siwe Disease |
|
Neutropenia, Thrombocytopenia, Irritability, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Prolactinoma |
|
Male hypogonadism, Elevated circulating growth hormone concentration, Pituitary hypothyroidism, D... |
ORPHA:2965 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:231154 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... |
OMIM:618841 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Ambiguous genitalia, Increased circulating androstenedione concentration, Long penis, Premature p... |
ORPHA:90795 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus |
OMIM:618078 |
| Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Blind vagina, Labial hypoplasia, Primary amenorrh... |
OMIM:300068 |
