| 疾病名称 |
别名 |
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| Blepharophimosis, Ptosis, And Epicanthus Inversus |
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Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome
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BPES
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Blepharophimosis Syndrome
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Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1
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Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
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Bpes With Duane Retraction Syndrome
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Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2
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Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1
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Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2
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Bpes Type 2
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
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3q23 Microdeletion Syndrome
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Bpes Plus
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1
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Bpes Type 1
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Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure
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Blepharophimosis, Ptosis, Epicanthus Inversus
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Autosomal Dominant Bpes Type I
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Autosomal Recessive Bpes Type I
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Bpes Type I
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Bpes Type Ii
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Bpes Without Ovarian Failure
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Bpes With Ovarian Failure
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Blepharophimosis Syndrome Type 1
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Blepharophimosis Syndrome Type 2
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| Premature Ovarian Failure 3 |
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POF3
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Ovarian Failure, Premature, Type 3
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| Maligant Granulosa Cell Tumor Of The Ovary |
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Granulosa Cell Cancer
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Granulosa Cell Malignant Tumor
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Maligant Granulosa Cell Tumor Of Ovary
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| Genetic Non-Acquired Premature Ovarian Failure |
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| Blepharophimosis |
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| Epicanthus |
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| Ovarian Disease |
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Ovarian Dysfunction
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Ovarian Diseases
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Ovarian Disorders
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Disorder Of Endocrine Ovary
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| Eyelid Disease |
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Eyelid Diseases
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Eyelid Disorders
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| Testicular Granulosa Cell Tumor |
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Granulosa Cell Tumor Of Testis
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Granulosa Cell Tumour Of Testis
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Testicular Granulosa Cell Tumour
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| Juvenile Type Testicular Granulosa Cell Tumor |
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Juvenile Granulosa Cell Tumor
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Juvenile Granulosa Cell Tumour
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Juvenile Type Granulosa Cell Neoplasm
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Juvenile Type Granulosa Cell Tumor
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Juvenile Type Granulosa Cell Tumour
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Juvenile Type Testicular Granulosa Cell Tumour
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| Ovarian Sex-Cord Stromal Tumor |
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Ovarian Sex Cord Tumor With Annular Tubules
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Ovarian Sex Cord-Stromal Tumor
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Stromal Tumor Of Ovary
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| Premature Ovarian Failure 1 |
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Ovarian Failure, Premature
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Fmr1-Related Primary Ovarian Insufficiency
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Fragile X-Associated Primary Ovarian Insufficiency
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POF1
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Pofx
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Hypergonadotropic Ovarian Failure, X-Linked
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Pof
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Primary Ovarian Insufficiency, Fragile X-Associated
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Primary Ovarian Insufficiency 1
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Ovarian Failure Premature
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Premature Ovarian Failure, X-Linked
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Fragile X Premature Ovarian Failure
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Fmr1-Related Premature Ovarian Failure
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Familial Premature Ovarian Failure
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Idiopathic Familial Premature Ovarian Failure
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Fxpoi
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X-Linked Hypergonadotropic Ovarian Failure
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Hypergonadotropic Ovarian Failure X-Linked
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Poi
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Premature Ovarian Failure X-Linked
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Primary Ovarian Insufficiency
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Premature Ovarian Failure-1
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Ovarian Failure, Premature, Type 1
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Premature Ovarian Failure, Familial
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Premature Menopause
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Primary Hypogonadism
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Turner Syndrome
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| Ptosis |
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Blepharoptosis
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Drooping Eyelid
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Droopy Eyelid
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Ptosis Of Eyelid
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Paralysis Of Levator Palpebrae Superioris
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| Gonadoblastoma |
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| Ovarian Wilms' Cancer |
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| Hermaphroditism |
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| Gonadal Dysgenesis |
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Gonadal Dysgenesis Syndrome
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Turner Syndrome
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| Disorder Of Sexual Development |
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Disorder Of Sex Development
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Disorders Of Sex Development
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Sex Development Disorder
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Sex Differentiation Disease
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Dsd
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Sex Differentiation Disorders
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| Combined Oxidative Phosphorylation Deficiency 5 |
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COXPD5
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Hypotonia With Lactic Acidemia And Hyperammonemia
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Combined Oxidative Phosphorylation Defect Type 5
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Combined Oxidative Phosphorylation Deficiency, Type 5
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| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
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GDACCF
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Developmental Disabilities
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| Amenorrhea |
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Absence Of Menstruation
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Amenia
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| Marcus Gunn Phenomenon |
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Jaw-Winking Syndrome
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Marcus-Gunn Syndrome
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Jaw-Winking
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Maxillopalpebral Synkinesis
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Abnormal Innervation Syndrome Of Eyelid
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Jaw-Blinking
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Pterygoid-Levator Synkinesis
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Familial Marcus Gunn Phenomenon
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Marcus Gunn Syndrome
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Mandibulo-Palpebral Synkinesis-Ptosis Syndrome
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Marcus-Gunn Phenomenon
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| Adult Type Testicular Granulosa Cell Tumor |
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| Congenital Symblepharon |
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| Testicular Fibroma |
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| Sex Cord-Gonadal Stromal Tumor |
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Sex Cord-Gonadal Stromal Tumour
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Sex Cord Stromal Tumour
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Sex Cord-Stromal Neoplasm
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Specialized Gonadal Neoplasm
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Specialized Gonadal Tumor
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Specialized Gonadal Tumour
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Sex Cord-Gonadal Stromal Tumors
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Sex Cord-Stromal Tumor
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Malignant Testicular Sex Cord-Stromal Tumor
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Sex Cord Stromal Tumor Of Testis
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| Luteoma |
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Leuteoma Of Pregnancy
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Luteoma Of Pregnancy
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| 46 Xx Gonadal Dysgenesis |
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Ovarian Dysgenesis
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Gonadal Dysgenesis, 46,Xx
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Dysgenesis, Ovarian
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| Premature Menopause |
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Primary Ovarian Insufficiency
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Premature Ovarian Failure
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Hypergonadotropic Hypogonadism
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Premature Ovarian Insufficiency
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Menopause - Premature
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Menopause Praecox
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Menopause Premature
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Menopause, Premature
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Female Hypergonadotropic Hypogonadism
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Hypergonadotrophic Ovarian Failure
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Primary Female Hypogonadism
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Pof - [Premature Ovarian Failure]
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Ovarian Failure
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Ovarian Secretion Suppression
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Ovary Hyposecretion
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Ovary Secretion Deficiency
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Premature Menopause Nos
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| Kidney Cortex Disease |
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| 46,Xy Sex Reversal 2 |
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Dosage-Sensitive Sex Reversal
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Dss
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SRXY2
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46,Xy Sex Reversal, Dax1-Related
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46xy Sex Reversal 2, Dosage-Sensitive
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46,Xy Sex Reversal Dax1-Related
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| 46,Xx Sex Reversal |
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46,Xx Testicular Disorder Of Sex Development
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46,Xx Testicular Dsd
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De La Chapelle Syndrome
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Srxx
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Xx, Male Syndrome
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46, Xx Testicular Disorders Of Sex Development
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| Estrogen Excess |
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| Congenital Ptosis |
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Congenital Blepharoptosis
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Congenital Eyelid Ptosis
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| Hand-Foot-Genital Syndrome |
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Hand-Foot-Uterus Syndrome
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Hfgs
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Hfg Syndrome
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Hfu Syndrome
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HFG
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Hfu
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Hand Foot Uterus Syndrome
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Hand Foot Genital Syndrome
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| Mixed Germ Cell-Sex Cord Neoplasm |
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Mixed Germ Cell-Sex Cord-Stromal Tumor
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Mixed Germ Cell-Sex Cord Tumor
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| Dicer1 Syndrome |
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Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome
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Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome
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Ppb Familial Tumor Susceptibility Syndrome
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Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
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Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility
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Dicer1-Related Pleuropulmonary Blastoma
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Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome
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Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome
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Ppbftds
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Doid:0081063
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| Infertility |
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| Mullerian Aplasia And Hyperandrogenism |
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Mullerian Duct Failure And Hyperandrogenism
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Wnt4 Deficiency
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Müllerian Aplasia And Hyperandrogenism
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Biason-Lauber Syndrome
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Mayer-Rokitansky-Küster-Hauser-Biason-Lauber Syndrome
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Mayer-Rokitansky-Küster-Hauser-Like Syndrome
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Müllerian Duct Failure
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Wnt4 Müllerian Aplasia
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Wnt4 Müllerian Aplasia And Ovarian Dysfunction
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MULLAPL
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Wnt4 Mullerian Aplasia And Ovarian Dysfunction
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| 46,Xy Sex Reversal |
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Swyer Syndrome
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Pure Gonadal Dysgenesis 46,Xy
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Gonadal Dysgenesis, Xy Female Type
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Gonadal Dysgenesis, 46,Xy
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46,Xy Cgd
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46,Xy Complete Gonadal Dysgenesis
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46,Xy Pure Gonadal Dysgenesis
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46 Xy Gonadal Dysgenesis
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46, Xy Cgd
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46, Xy Complete Gonadal Dysgenesis
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46, Xy Pure Gonadal Dysgenesis
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Xy Pure Gonadal Dysgenesis
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Female With 46,Xy Karyotype
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Xy Females
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| Persistent Mullerian Duct Syndrome |
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Persistent Müllerian Duct Syndrome
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Pmds
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Persistent Oviduct Syndrome
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Persistent Muellerian Duct Syndrome
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Female Genital Ducts In Otherwise Normal Male
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Hernia Uteri Inguinale
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Persistent Mullerian Duct Syndrome, Types 1 And 2
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Persistent Mullerian Derivatives
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| Pleuropulmonary Blastoma |
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PPB
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Ppb Familial Tumor And Dysplasia Syndrome
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Ppbftds
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Pulmonary Blastoma
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Blastoma, Pleuropulmonary
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Dicer1 Syndrome
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Respiratory Tract Neoplasms
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| Synpolydactyly |
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Syndactyly Type 2
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Syndactyly, Type 2
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Spd
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| Ovarian Benign Neoplasm |
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| Amblyopia |
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| Multiple Synostoses Syndrome |
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Symphalangism-Brachydactyly Syndrome
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Deafness-Hermann Type Symphalangism Syndrome
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Facio-Audio-Symphalangism
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Hearing Loss-Hermann Type Symphalangism Syndrome
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Wl Syndrome
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Multiple Synostosis Syndrome
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| Campomelic Dysplasia |
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Acampomelic Campomelic Dysplasia
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Camptomelic Dysplasia
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Campomelic Dysplasia With Autosomal Sex Reversal
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Cmpd
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CMD1
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Cmpd1
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Cmpd1/Sra1
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Acampomelic Campomelic Dysplasia With Autosomal Sex Reversal
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Campomelic Dwarfism
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Campomelic Syndrome
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Dysplasia, Campomelic
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Chronic Myeloproliferative Disorder
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Familial Dilated Cardiomyopathy
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| Pseudohermaphroditism |
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Indeterminate Sex And Pseudohermaphroditism
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| Perrault Syndrome |
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Gonadal Dysgenesis, Xx Type, With Deafness
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Ovarian Dysgenesis With Sensorineural Deafness
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Gonadal Dysgenesis, Xx Type
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Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
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Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
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Xx Gonodal Dysgenesis-Deafness Syndrome
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Xx Gonodal Dysgenesis-Hearing Loss Syndrome
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Gonadal Dysgenesis Xx Type Deafness
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| Congenital Central Hypoventilation Syndrome |
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Cchs
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Haddad Syndrome
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Ondine Curse
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Ondine Syndrome
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Congenital Central Hypoventilation
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Congenital Central Alveolar Hypoventilation Syndrome
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Congenital Failure Of Autonomic Control
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Ondine'S Curse
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Primary Alveolar Hypoventilation
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Ondine-Hirschsprung Disease
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Central Congenital Hypoventilation Syndrome
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Congenital Ondine Curse
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Idiopathic Congenital Central Alveolar Hypoventilation
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Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
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Ondine-Hirschsprung Syndrome
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| Microcephaly |
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Microencephaly
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Microcephalus
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Microcephalic
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Nanocephaly
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Congenital Microcephaly
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Brain Hypoplasia
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
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| Fanconi Anemia, Complementation Group A |
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Fanconi Anemia
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Fanconi Pancytopenia
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Fanconi Anemia Complementation Group A
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FANCA
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Fa
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Fanconi Panmyelopathy
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Fanconi'S Anemia
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Fanconi Anaemia
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Fanconi'S Anaemia
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Fanconi Hypoplastic Anemia
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Estren-Dameshek Variant Of Fanconi Anemia
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Estren-Dameshek Variant Of Fanconi Pancytopenia
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Fanconi Anemia Estren-Dameshek Variant
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Fanconis Anemia
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| Cryptorchidism, Unilateral Or Bilateral |
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Cryptorchidism
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Undescended Testicle
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Undescended Testis
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Cryptorchism
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Undescended Testicles
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CRYPTO
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Impaired Testicular Descent
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Cryptosporidiosis
|
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Retained Testis
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Unilateral Cryptorchidism
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Unilateral Undescended Testis
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Nondescent Unilateral Testicle
|
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Unilateral Cryptorchism
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Ectopic Testis, Unilateral
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Bilateral Cryptorchidism
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Bilateral Cryptorchism
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Bilateral Nondescent Testicle
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Bilateral Undescended Testes
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Bilateral Ectopic Testes
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