Cystic Angiomatosis Of Bone, Diffuse |
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Cystic angiomatosis of bone |
OMIM:123880 |
Attention Deficit-Hyperactivity Disorder |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Short attention span, Hyperactivity |
OMIM:608443 |
Asherman Syndrome |
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Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Endometriosis, Susceptibility To, 1 |
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Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Premature Ovarian Failure 19 |
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Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Invasive Mole |
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Menometrorrhagia |
ORPHA:99925 |
Hyperprolactinemia |
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Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Premature Ovarian Failure 2B |
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Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Gestational Choriocarcinoma |
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Metrorrhagia |
ORPHA:99926 |
Placental Site Trophoblastic Tumor |
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Metrorrhagia, Amenorrhea |
ORPHA:99928 |
Narcolepsy 3 |
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Narcolepsy |
OMIM:609039 |
Osteopetrosis, Autosomal Recessive 6 |
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Osteopetrosis |
OMIM:611497 |
Leptin Deficiency Or Dysfunction |
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Obesity, Primary amenorrhea, Hypogonadism, Polyphagia, Decreased testicular size |
OMIM:614962 |
Familial Hyperprolactinemia |
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Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
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Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
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Female infertility, Amenorrhea |
OMIM:620383 |
Narcolepsy 1 |
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Narcolepsy |
OMIM:161400 |
Premature Ovarian Failure 1 |
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Premature ovarian insufficiency, Irregular menstruation |
OMIM:311360 |
Cortisone Reductase Deficiency 1 |
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Infertility, Obesity, Oligomenorrhea |
OMIM:604931 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
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Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Gordon Holmes Syndrome |
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Secondary amenorrhea, Hypogonadotropic hypogonadism, Oligomenorrhea, Primary amenorrhea |
OMIM:212840 |
Polycystic Ovary Syndrome 1 |
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Amenorrhea, Obesity, Oligomenorrhea |
OMIM:184700 |
Melorheostosis, Isolated |
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Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Premature Ovarian Failure 12 |
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Primary amenorrhea |
OMIM:616947 |
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614840 |
Ovarian Dysgenesis 4 |
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Primary amenorrhea, Decreased body weight |
OMIM:616185 |
Narcolepsy 7 |
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Narcolepsy |
OMIM:614250 |
Premature Ovarian Failure 15 |
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Irregular menstruation, Oligomenorrhea, Secondary amenorrhea |
OMIM:618096 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Attention deficit hyperactivity disorder, Secondary amenorrhea |
OMIM:301033 |
Osteopetrosis, Autosomal Dominant 1 |
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Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Peritoneal Cystic Mesothelioma |
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Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Prolactin Deficiency, Isolated |
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Irregular menstruation, Infertility |
OMIM:264110 |
Perrault Syndrome 6 |
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Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim... |
OMIM:617565 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
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Premature ovarian insufficiency, Amenorrhea |
OMIM:619425 |
Premature Ovarian Failure 5 |
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Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas... |
OMIM:611548 |
Premature Ovarian Failure 11 |
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Oligomenorrhea, Secondary amenorrhea |
OMIM:616946 |
Gray Platelet Syndrome |
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Abnormality of the menstrual cycle |
ORPHA:721 |
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Decreased testicu... |
OMIM:146110 |
Premature Ovarian Failure 13 |
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Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Premature Ovarian Failure 3 |
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Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
Ovarian Dysgenesis 2 |
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Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea... |
OMIM:300510 |
Ovarian Dysgenesis 1 |
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Primary amenorrhea |
OMIM:233300 |
Bardet-Biedl Syndrome 9 |
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Irregular menstruation, Obesity, Truncal obesity, Polydipsia, Polyphagia |
OMIM:615986 |
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
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Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
Premature Ovarian Failure 2A |
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Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:300511 |
Perrault Syndrome 2 |
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Streak ovary, Amenorrhea |
OMIM:614926 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
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Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:617175 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
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Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size |
OMIM:229070 |
Ovarian Dysgenesis 6 |
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Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
Premature Ovarian Failure 6 |
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Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Premature Ovarian Failure 9 |
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Premature ovarian insufficiency, Hypoplasia of the ovary, Amenorrhea |
OMIM:615724 |
Premature Ovarian Failure 20 |
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Secondary amenorrhea, Female infertility |
OMIM:619938 |
Premature Ovarian Failure 18 |
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Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Hypoplasia of the ... |
OMIM:619203 |
Hemochromatosis, Type 2A |
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Azoospermia, Hypogonadotropic hypogonadism, Infertility, Amenorrhea |
OMIM:602390 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Decreased testicular ... |
OMIM:610628 |
Isolated Follicle Stimulating Hormone Deficiency |
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Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Perrault Syndrome 4 |
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Premature ovarian insufficiency, Obesity, Secondary amenorrhea, Primary amenorrhea, Hypoplasia of... |
OMIM:615300 |
Wilson Disease |
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Abnormality of the menstrual cycle, Aggressive behavior, Hypersexuality, Increased body weight, W... |
ORPHA:905 |
Premature Ovarian Failure 7 |
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Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea |
OMIM:612964 |
Premature Ovarian Failure 10 |
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Premature ovarian insufficiency, Primary amenorrhea, Azoospermia, Hypoplasia of the ovary, Decrea... |
OMIM:612885 |
Double Uterus-Hemivagina-Renal Agenesis Syndrome |
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Dyspareunia, Metrorrhagia, Dysmenorrhea |
ORPHA:3411 |
Plin1-Related Familial Partial Lipodystrophy |
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Infertility, Oligomenorrhea |
ORPHA:280356 |
Luscan-Lumish Syndrome |
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Polyphagia, Irregular menstruation, Obesity, Aggressive behavior |
OMIM:616831 |
Craniometaphyseal Dysplasia |
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Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Ovarian Dysgenesis 8 |
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Eunuchoid habitus, Primary amenorrhea |
OMIM:618187 |
Familial Afibrinogenemia |
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Menometrorrhagia |
ORPHA:98880 |
Osteopetrosis, Autosomal Recessive 9 |
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Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Ovarian Dysgenesis 10 |
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Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Hypoplasia of the ovary |
OMIM:619834 |
Osteopetrosis, Autosomal Dominant 2 |
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Generalized osteosclerosis, Osteopetrosis |
OMIM:166600 |
Premature Ovarian Failure 21 |
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Streak ovary, Primary amenorrhea, Secondary amenorrhea |
OMIM:620311 |
Premature Ovarian Failure 14 |
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Primary amenorrhea |
OMIM:618014 |
Hemochromatosis, Type 3 |
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Impotence, Hypogonadotropic hypogonadism, Amenorrhea |
OMIM:604250 |
Premature Ovarian Failure 8 |
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Streak ovary, Premature ovarian insufficiency, Primary amenorrhea |
OMIM:615723 |
Proprotein Convertase 1/3 Deficiency |
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Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea |
OMIM:600955 |
Pituicytoma |
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Impotence, Decreased female libido, Hypogonadotropic hypogonadism, Amenorrhea |
ORPHA:251623 |
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
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Narcolepsy |
OMIM:604121 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
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Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Lipodystrophy, Familial Partial, Type 4 |
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Oligomenorrhea |
OMIM:613877 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para... |
OMIM:605373 |
Hydatidiform Mole |
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Menometrorrhagia |
ORPHA:99927 |
Lead Poisoning |
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Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,... |
ORPHA:330015 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
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Hypogonadotropic hypogonadism, Secondary amenorrhea, Abnormal spermatogenesis, Azoospermia, Oligo... |
OMIM:228300 |
46,Xy Sex Reversal 1 |
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Hypergonadotropic hypogonadism, Primary amenorrhea, Abnormality of the menstrual cycle |
OMIM:400044 |
Osteopetrosis, Autosomal Recessive 4 |
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Increased bone mineral density, Osteopetrosis |
OMIM:611490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Fowler Urethral Sphincter Dysfunction Syndrome |
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Menorrhagia, Oligomenorrhea, Amenorrhea |
ORPHA:2795 |
Glucocorticoid Resistance, Generalized |
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Irregular menstruation, Infertility |
OMIM:615962 |
Pituitary Dermoid And Epidermoid Cysts |
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Oligozoospermia, Hypogonadism, Oligomenorrhea, Polydipsia, Amenorrhea |
ORPHA:91351 |
Prolactinoma |
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Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnorma... |
ORPHA:2965 |
Functioning Gonadotropic Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Abnormality of the menstrual cycle, Oligoz... |
ORPHA:91348 |
Ovarian Dysgenesis 3 |
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Primary amenorrhea, Female infertility |
OMIM:614324 |
Osteopetrosis, Autosomal Recessive 2 |
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Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count, Diaphyseal sclerosis |
OMIM:259710 |
Gangliocytoma |
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Impotence, Decreased female libido, Polyphagia, Amenorrhea |
ORPHA:251937 |
Interstitial Cystitis |
|
Dyspareunia, Abnormality of the menstrual cycle |
ORPHA:37202 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation |
OMIM:615238 |
Aromatase Deficiency |
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Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:613546 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
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Amenorrhea |
OMIM:277000 |
Non-Functioning Pituitary Adenoma |
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Macroorchidism, postpubertal, Decreased female libido, Hypogonadotropic hypogonadism, Female hypo... |
ORPHA:91349 |
Pure Autonomic Failure |
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Abnormality of circulating catecholamine level |
ORPHA:441 |
Akt2-Related Familial Partial Lipodystrophy |
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Oligomenorrhea |
ORPHA:79085 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Klippel-Trénaunay Syndrome |
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Abnormality of the menstrual cycle |
ORPHA:90308 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
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Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Narcolepsy |
ORPHA:314404 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Calvarial osteosclerosis, Osteopetrosis, Craniosynostosis |
OMIM:259700 |
Hermansky-Pudlak Syndrome 5 |
|
Menorrhagia, Metrorrhagia |
OMIM:614074 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Wolfram Syndrome 2 |
|
Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
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Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Osteopetrosis, Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis |
OMIM:618476 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the m... |
ORPHA:91347 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Malakoplakia |
|
Orchitis, Abnormality of the menstrual cycle |
ORPHA:556 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hypogonadotropic hypogonadism, Abnormality of the menstrual cycle, Decreased fertility, Testicula... |
ORPHA:90794 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Facial hyperostosis, Abnorma... |
ORPHA:2658 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy |
ORPHA:293987 |
Niemann-Pick Disease Type C |
|
Narcolepsy |
ORPHA:646 |
Von Hippel-Lindau Disease |
|
Pancreatic islet cell adenoma, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Paragangliom... |
ORPHA:892 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
African Trypanosomiasis |
|
Aggressive behavior, Abnormality of the menstrual cycle, Weight loss, Impotence, Infertility |
ORPHA:3385 |
Wiskott-Aldrich Syndrome |
|
Abnormality of the menstrual cycle |
ORPHA:906 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis |
ORPHA:2785 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased fertility, Abnormality of the menstrual cycle |
ORPHA:285 |