Ectodermal Dysplasia With Adrenal Cyst |
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Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
Becker Nevus Syndrome |
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Unilateral breast hypoplasia |
OMIM:604919 |
Isolated Follicle Stimulating Hormone Deficiency |
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Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Bullous Lichen Planus |
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Breast aplasia |
ORPHA:33408 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
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Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Decreased fertility, ... |
ORPHA:2235 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
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Wide intermamillary distance, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive... |
ORPHA:432 |
Nipples, Supernumerary |
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Supernumerary nipple |
OMIM:163700 |
Estrogen Resistance Syndrome |
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Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
Adult Syndrome |
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Sparse scalp hair, Wide intermamillary distance, Absent nipple, Fair hair, Sparse axillary hair, ... |
OMIM:103285 |
Adult Syndrome |
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Sparse scalp hair, Alopecia, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia |
ORPHA:978 |
Meier-Gorlin Syndrome 4 |
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Cryptorchidism, Breast hypoplasia |
OMIM:613804 |
Familial Supernumerary Nipples |
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Supernumerary nipple |
ORPHA:2456 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Abnormal eyebrow morphology, Alopecia, Streak ovary, Sparse facial hair, Hypergonadotropic hypogo... |
ORPHA:2232 |
Kallmann Syndrome |
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Dyspareunia, Hypogonadotropic hypogonadism, Cryptorchidism, Breast hypoplasia, Decreased fertilit... |
ORPHA:478 |
Ring Chromosome 12 Syndrome |
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Cryptorchidism, Dystrophic toenail, Breast hypoplasia, Hirsutism |
ORPHA:1439 |
Sheehan Syndrome |
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Dyspareunia, Decreased female libido, Sparse axillary hair, Reduced circulating prolactin concent... |
ORPHA:91355 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
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Hypoplastic areola, Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the b... |
OMIM:113700 |
Microcephalic Primordial Dwarfism, Dauber Type |
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Bilateral breast hypoplasia, Primary amenorrhea |
ORPHA:319675 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
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Breast aplasia |
OMIM:612242 |
Incontinentia Pigmenti |
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Alopecia, Supernumerary nipple, Fine hair, Coarse hair, Breast aplasia, Hypoplastic nipples, Nail... |
OMIM:308300 |
Meier-Gorlin Syndrome 2 |
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Breast hypoplasia |
OMIM:613800 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
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Cryptorchidism, Long eyelashes, Breast hypoplasia, Absent axillary hair |
OMIM:601353 |
Craniofrontonasal Syndrome |
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Curly hair, Cryptorchidism, Widow's peak, Low posterior hairline, Unilateral breast hypoplasia, B... |
OMIM:304110 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Sparse hair, Breast hypoplasia, Oligozoospermia |
OMIM:614813 |
Gapo Syndrome |
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Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia |
OMIM:230740 |
Limb-Mammary Syndrome |
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Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... |
ORPHA:69085 |
Estrogen Resistance |
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Breast aplasia, Primary amenorrhea, Polycystic ovaries |
OMIM:615363 |
Leydig Cell Hypoplasia |
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Hypergonadotropic hypogonadism, Female hypogonadism, Testicular gonadoblastoma, Cryptorchidism, I... |
ORPHA:755 |
Meier-Gorlin Syndrome 3 |
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Sparse pubic hair, Cryptorchidism, Breast hypoplasia, Sparse axillary hair |
OMIM:613803 |
Ablepharon Macrostomia Syndrome |
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Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Aplasia/Hypoplasia of the nipples, Fine ... |
ORPHA:920 |
Hidrotic Ectodermal Dysplasia, Halal Type |
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Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... |
ORPHA:1809 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
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Unilateral breast hypoplasia, Hypertrichosis |
OMIM:300968 |
Aymé-Gripp Syndrome |
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Cryptorchidism, Long eyelashes, Sparse scalp hair, Breast hypoplasia |
ORPHA:1272 |
Cerebellar Ataxia-Hypogonadism Syndrome |
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Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Gynecomastia |
ORPHA:1173 |
Meier-Gorlin Syndrome 1 |
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Cryptorchidism, Long eyelashes, Breast hypoplasia |
OMIM:224690 |
Dyrk1A-Related Intellectual Disability Syndrome |
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Cryptorchidism, Anterior pituitary hypoplasia, Breast hypoplasia |
ORPHA:464306 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Elevated circu... |
ORPHA:3044 |
Ulnar-Mammary Syndrome |
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Inverted nipples, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Sparse axillary hai... |
OMIM:181450 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
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Hypoplastic areola, Absent nipple, Highly arched eyebrow, Cryptorchidism, Hypoplastic nipples |
OMIM:616001 |
Barber-Say Syndrome |
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Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Generalized hirsutism, Aplasia/H... |
ORPHA:1231 |
Gabriele-De Vries Syndrome |
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Decreased response to growth hormone stimulation test, Sparse eyebrow, Cryptorchidism, Frontal up... |
ORPHA:506358 |
Woods Syndrome |
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Frontal hirsutism, Supernumerary nipple |
OMIM:615236 |
Choroidal Atrophy-Alopecia Syndrome |
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Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Sparse hair |
ORPHA:1433 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
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Synophrys, Supernumerary nipple |
OMIM:616083 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Slow-growing hair, Trichorrhexis nodosa, Breast aplasia, Generalized hypo... |
ORPHA:238468 |
Ulnar-Mammary Syndrome |
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Cryptorchidism, Decreased fertility, Breast aplasia, Hypoplastic nipples, Absent axillary hair |
ORPHA:3138 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia |
ORPHA:90153 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
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Cryptorchidism, Supernumerary nipple |
OMIM:619243 |
10Q22.3Q23.3 Microdeletion Syndrome |
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Breast aplasia |
ORPHA:276413 |
Moebius Syndrome |
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Breast aplasia, Hypogonadotropic hypogonadism |
ORPHA:570 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
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Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Scalp-Ear-Nipple Syndrome |
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Sparse hair, Aplasia/Hypoplasia of the nipples, Breast aplasia |
ORPHA:2036 |
Meier-Gorlin Syndrome 7 |
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Cryptorchidism, Breast aplasia, Thin eyebrow |
OMIM:617063 |
Scalp-Ear-Nipple Syndrome |
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Sparse axillary hair, Sparse pubic hair, Aplasia/Hypoplasia of the nipples, Fine hair, Patchy alo... |
OMIM:181270 |
Ear-Patella-Short Stature Syndrome |
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Cryptorchidism, Breast aplasia |
ORPHA:2554 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Decreased response to growth hormone stimulation test, Cryptorchidism, Posterior pituitary hypopl... |
ORPHA:268261 |