Testicular Microlithiasis |
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Testicular microlithiasis |
OMIM:610441 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
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Macroorchidism |
ORPHA:85320 |
Spermatogenic Failure 57 |
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Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
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Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Intellectual Developmental Disorder, X-Linked 14 |
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Macroorchidism |
OMIM:300062 |
Testes, Rudimentary |
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Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
Bleeding Disorder, Platelet-Type, 24 |
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Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Spermatogenic Failure 32 |
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Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
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Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Partial Chromosome Y Deletion |
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Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 25 |
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Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Bleeding Disorder, Platelet-Type, 15 |
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Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Bleeding Disorder, Platelet-Type, 16 |
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Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
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Decreased testicular size |
ORPHA:436144 |
Cryptorchidism, Unilateral Or Bilateral |
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Cryptorchidism, Unilateral cryptorchidism |
OMIM:219050 |
Platelet Glycoprotein Iv Deficiency |
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Giant platelets, Thrombocytopenia |
OMIM:608404 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Macroorchidism, Reduced circulating prolactin concentration |
OMIM:264120 |
Spermatogenic Failure 30 |
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Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Spermatogenic Failure 63 |
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Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Intellectual Developmental Disorder, X-Linked 2 |
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Macroorchidism |
OMIM:300428 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
Isochromosomy Yp |
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Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Mental retardation, x-linked, syndromic, Turner type |
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Macroorchidism |
OMIM:300706 |
Familial Peripheral Male-Limited Precocious Puberty |
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Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Spastic Paraplegia-Precocious Puberty Syndrome |
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Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Giant platelet syndrome with thrombocytopenia |
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Giant platelets, Thrombocytopenia |
OMIM:137560 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
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Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Giant platelets, Neutrophi... |
OMIM:155100 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... |
ORPHA:67044 |
Bleeding Disorder, Platelet-Type, 21 |
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Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... |
OMIM:617443 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... |
OMIM:614840 |
Bernard-Soulier Syndrome |
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Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... |
OMIM:231200 |
Precocious Puberty, Male-Limited |
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Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
Isochromosomy Yq |
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Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
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Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia |
OMIM:124900 |
46,Xx Testicular Difference Of Sex Development |
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Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
Myh9-Related Disease |
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Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Menorrhagia, Congen... |
ORPHA:182050 |
Partington Syndrome |
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Macroorchidism |
ORPHA:94083 |
Spermatogenic Failure, X-Linked, 2 |
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Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Testicular Regression Syndrome |
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Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
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Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... |
ORPHA:399808 |
Bleeding Disorder, Platelet-Type, 19 |
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Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia |
OMIM:616176 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
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Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Macroorchidism |
OMIM:300886 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
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Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... |
OMIM:153670 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
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Macroorchidism |
OMIM:300238 |
Isolated Follicle Stimulating Hormone Deficiency |
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Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Slc35A1-Cdg |
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Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Megalencephaly |
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Macroorchidism, Long penis |
ORPHA:2477 |
X-Linked Intellectual Disability, Shashi Type |
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Macroorchidism |
ORPHA:85286 |
17Q11.2 Microduplication Syndrome |
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Macroorchidism |
ORPHA:139474 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Atkin-Flaitz Syndrome |
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Macroorchidism |
ORPHA:1193 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Hypogonadism, Male |
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Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Intellectual Developmental Disorder, X-Linked 21 |
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Macroorchidism |
OMIM:300143 |
Microphthalmia, Isolated 4 |
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Absent testis |
OMIM:613094 |
47,Xyy Syndrome |
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Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
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Macroorchidism, Elevated circulating growth hormone concentration |
ORPHA:85327 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... |
ORPHA:91348 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Non-Functioning Pituitary Adenoma |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Pelger-Huet Anomaly |
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Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Thrombocytopenia 3 |
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Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Spermatogenic Failure 28 |
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Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
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Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Macroorchidism |
ORPHA:3077 |
Fragile X Syndrome |
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Macroorchidism |
ORPHA:908 |
Intellectual Developmental Disorder, X-Linked 92 |
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Decreased testicular size |
OMIM:300851 |
Clark-Baraitser syndrome |
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Macroorchidism |
OMIM:300602 |
Sitosterolemia 1 |
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Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Storage Pool Platelet Disease |
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Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Lujan-Fryns Syndrome |
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Macroorchidism |
ORPHA:776 |
Xp22.13P22.2 Duplication Syndrome |
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Macroorchidism, Polycystic ovaries |
ORPHA:284180 |
Bernard-Soulier Syndrome |
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Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Giant platelets, Menorrhagia, Imp... |
ORPHA:274 |
Polyembryoma |
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Macroorchidism, Irregular menstruation, Isosexual precocious puberty |
ORPHA:180229 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
46,Xy Complete Gonadal Dysgenesis |
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Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Takenouchi-Kosaki Syndrome |
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Cryptorchidism, Thrombocytopenia, Hypospadias, Increased mean platelet volume |
OMIM:616737 |
Congenital Disorder Of Glycosylation, Type Iig |
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Hypospadias, Cryptorchidism, Giant platelets, Anemia, Thrombocytopenia |
OMIM:611209 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Male hypogonadism |
OMIM:300055 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Elevated circulating luteinizing hormone level, Primary amenorrhea, Azoospermia, Hypogonadism, In... |
OMIM:229070 |
46,Xy Sex Reversal 10 |
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Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
Mccune-Albright Syndrome |
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Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,... |
ORPHA:562 |
46,Xy Sex Reversal 8 |
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Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism |
ORPHA:324410 |
Aromatase Deficiency |
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Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
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Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size |
OMIM:614880 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Endometrial carcinoma, Adrenal hyperplasia, Male pseudohermaphroditism, Macroorchidism, Abnormali... |
ORPHA:90790 |
Lathosterolosis |
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Bilobate gallbladder, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikil... |
OMIM:607330 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Macroorchidism, Hypospadias |
OMIM:618874 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Lymphatic Malformation 10 |
|
Hydrocele testis |
OMIM:619369 |
Trichohepatoenteric Syndrome 1 |
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Splenomegaly, Thrombocytosis, Hypospadias, Increased mean platelet volume |
OMIM:222470 |
Trisomy 20P |
|
Macroorchidism, Cryptorchidism, Hypospadias |
ORPHA:261318 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo... |
OMIM:614837 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Macroorchidism |
OMIM:309520 |
Testicular Agenesis |
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Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo... |
OMIM:614841 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Hypospadias, Increased mean platelet volume |
ORPHA:487796 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Azoospermia, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:614897 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Central Precocious Puberty In Male |
|
Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males |
ORPHA:649929 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Cryptorchidism, Primary amenorrhea, Hypogonadism, Micropenis, Decreased testicular size |
OMIM:616030 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Pituitary hypothyroidism, Macroorchidism, Thyroid hypoplasia, Increased circulating prolactin con... |
ORPHA:90674 |
49,Xxxyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:261534 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
Carney Complex |
|
Neoplasm of the pancreas, Ovarian dermoid cyst, Pituitary growth hormone cell adenoma, Sertoli ce... |
ORPHA:1359 |
49,Xyyyy Syndrome |
|
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... |
ORPHA:99330 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Precocious puberty, Macroorchidism |
OMIM:619950 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, O... |
ORPHA:744 |
Aspartylglucosaminuria |
|
Macroorchidism, Vacuolated lymphocytes, Neutropenia |
OMIM:208400 |
Aspartylglucosaminuria |
|
Macroorchidism, Splenomegaly |
ORPHA:93 |
Cystic Echinococcosis |
|
Ovarian cyst, Eosinophilia, Abnormality of the testis size, Splenic cyst |
ORPHA:400 |