| 疾病名称 |
别名 |
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| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
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Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
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Disordered Steroidogenesis Due To Por Deficiency
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Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase
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Por Deficiency
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Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency
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Congenital Adrenal Hyperplasia Due To Cytochrome Por Deficiency
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Pord
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DISPORD
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Adrenal Hyperplasia Congenital Due To Cytochrome P450 Oxidoreductase Deficiency
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Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency
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Cytochrome P450 Oxidoreductase Deficiency
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Steroidogenesis, Disordered, Due To Cytochrome P450 Oxidoreductase Deficiency
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Antley-Bixler Syndrome With Disordered Steroidogenesis
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| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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ABS1
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Antley-Bixler Syndrome, With Genital Anomalies And Disordered Steroidogenesis
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Antley-Bixler Syndrome With Genital Anomaly And Disorder Of Steroidogenesis
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Ambiguous Genitalia-Disordered Steroidogenesis Antley-Bixler Syndrome
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Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis
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Cytochrome P450 Oxidoreductase Deficiency
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Por Deficiency
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Antley-Bixler Syndrome With Disordered Steroidogenesis
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| Cytochrome P450 Oxidoreductase Deficiency |
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Por Deficiency
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Pord
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Antley-Bixler Syndrome With Disordered Steroidogenesis
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Antley-Bixler Syndrome
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Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis
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Combined Partial Deficiency Of 17-Hydroxylase And 21-Hydroxylase
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Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 And P450c21 Deficiency
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Antley-Bixler Syndrome, Autosomal Dominant
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| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
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ABS2
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Trapezoidocephaly-Synostosis Syndrome
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Multisynostotic Osteodysgenesis With Long Bone Fractures
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Antley-Bixler Syndrome, Without Genital Anomalies Or Disordered Steroidogenesis
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Osteodysgenesis, Multisynostotic, With Fractures
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Osteodysgenesis Multisynostotic With Fractures
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Antley-Bixler Syndrome, Autosomal Dominant
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| Antley-Bixler Syndrome |
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Trapezoidocephaly Synostosis Syndrome
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Trapezoidocephaly-Synostosis Syndrome
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Antley Bixler Syndrome
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Multisynostotic Osteodysgenesis With Long Bone Fractures
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Osteodysgenesis, Multisynostotic With Fractures
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Antley-Bixler Syndrome, Autosomal Dominant
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Antley-Bixler Syndrome Phenotype
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| Lipoid Congenital Adrenal Hyperplasia |
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Congenital Adrenal Hyperplasia
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Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
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Congenital Lipoid Adrenal Hyperplasia
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Lipoid Cah
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Lipoid Adrenal Hyperplasia
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Adrenal Hyperplasia 1
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Cah
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Clah
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LCAH
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Adrenal Hyperplasia I
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Lipoid Hyperplasia, Congenital, Of Adrenal Cortex With Male Pseudohermaphroditism
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Congenital Adrenal Hyperplasia Lipoid
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Adrenal Hyperplasia, Congenital
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Congenital Adrenal Hyperplasia, Lipoid
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AH1
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Congenital Lipoid Hyperplasia Of Adrenal Cortex With Male Pseudohermaphroditism
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Adrenal Hyperplasia Congenital
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Hyperplasia, Adrenal, Lipoid, Congenital
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Congenital Adrenogenital Disorders Associated With Enzyme Deficiency
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Congenital Adrenal Cortical Hyperplasia
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Congenital Adrenal Gland Hyperplasia
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Congenital Adrenogenital Syndrome
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Congenital Hyperadrenocorticism
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Congenital Adrenogenitalism
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Congenital Female Adrenal Pseudohermaphroditism
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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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| Synostosis |
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| Humeroradial Synostosis |
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Humero-Radial Fusion
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Humero-Radial Synostosis
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Ramer Ladda Syndrome
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| Steroid Inherited Metabolic Disorder |
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Steroid Metabolism, Inborn Errors
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| Craniosynostosis |
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Premature Closure Of Cranial Sutures
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Craniostenosis
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Craniosynostosis Syndrome
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Cso
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Craniosynostoses
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Congenital Ossification Of Cranial Sutures
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Congenital Ossification Of Sutures Of Skull
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Craniostosis
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Imperfect Fusion Of Skull
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Congenital Imperfect Closure Skull
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Imperfect Closure Skull
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Premature Closure Cranium Sutures
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Deficiency Of Craniofacial Axis
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| Hypertelorism, Microtia, Facial Clefting Syndrome |
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Hmc Syndrome
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Bixler Christian Gorlin Syndrome
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Bixler-Christian-Gorlin Syndrome
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Hypertelorism-Microtia-Facial Clefting Syndrome
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Bixler Syndrome
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Hypertelorism-Microtia-Clefting Syndrome
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Hypertelorism Microtia Facial Clefting Syndrome
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| Kohler'S Disease |
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Kohler Disease
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Aseptic Necrosis Of The Tarsal Bone
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Osteochondrosis Of The Tarsal Bone
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Juvenile Osteochondrosis Of Foot
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Kohler'S Disease Of The Tarsal Navicular
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Kohler'S Osteochondrosis Of The Tarsal Navicular
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Navicular Osteochondrosis
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Obsolete: Osteochondritis Of Tarsal/Metatarsal Bone
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Osteochondritis Of Tarsal/Metatarsal Bone
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Avascular Necrosis Of The Tarsal Bone
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Larsen-Johansson Syndrome
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| Cortisone Reductase Deficiency |
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11-Alpha Beta-Hydroxysteroid Dehydrogenase Type I Deficiency Of
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Cortrd
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Hsd 11b1 Deficiency
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| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
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P450scc Deficiency
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Congenital Adrenal Insufficiency
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Adrenal Insufficiency, Congenital, With 46xy Sex Reversal, Partial Or Complete
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46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11a1 Deficiency
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Xy Sex Reversal-Adrenal Failure
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Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal
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AICSR
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Adrenal Insufficiency Congenital With 46,Xy Sex Reversal Partial Or Complete
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Adrenal Insufficiency, Congenital
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Congenital Adrenal Hyperplasia
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Adrenogenital Syndrome
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| Gynecomastia |
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| Cloacal Exstrophy |
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Oeis Complex
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Omphalocele-Cloacal Exstrophy-Imperforate Anus-Spinal Defect Syndrome
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Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Compl
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Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects Complex
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Cloacal Exstrophy Sequence
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Omphalocele - Cloacal Exstrophy - Imperforate Anus - Spinal Defect
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Omphalocele, Exstrophy Of The Cloaca, Imperforate Anus, And Spinal Defects
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Omphalocele Exstrophy Imperforate Anus
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| Dermatopathia Pigmentosa Reticularis |
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| Radioulnar Synostosis |
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Radio-Ulnar Synostosis Type 1
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| Corticosterone Methyloxidase Type I Deficiency |
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Cmo I Deficiency
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Aldosterone Deficiency I
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Aldosterone Deficiency Due To Defect In Steroid 18-Hydroxylase
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18-Hydroxylase Deficiency
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Hypoaldosteronism, Congenital, Due To Cmo I Deficiency
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Corticosterone Methyloxidase Deficiency 1
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Corticosterone Methyloxidase Type 1 Deficiency
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Hyperreninemic Hypoaldosteronism, Familial, 1
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Fhha1a
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Steroid 18-Hydroxylase Deficiency
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Aldosterone Synthase Deficiency
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18 Hydroxylase Deficiency
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18 Alpha Hydroxylase Deficiency
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Aldosterone Deficiency 1
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Aldosterone Deficiency Due To Defect In 18 Hydroxylase
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Cmo 1 Deficiency
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Corticosterone Methyloxidase 1 Deficiency
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CMO-1 DEFICIENCY
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Aldosterone Deficiency Due To Defect In 18-Hydroxylase
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Corticosterone Methyl Oxidase Type I Deficiency
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Corticosterone Methyl Oxidase Type Ii Deficiency
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| Arthrogryposis, Distal, Type 1a |
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Distal Arthrogryposis Type 1
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Digitotalar Dysmorphism
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DA1A
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Da1
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Amcd1
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Arthrogryposis, Distal, Type 2b4
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Distal Arthrogryposis Type 1a
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Arthrogryposis, Distal, Type 1
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Arthrogryposis Multiplex Congenita Distal Type 1
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Arthrogryposis Multiplex Congenita, Distal Type 1
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Arthrogryposis Multiplex Congenita, Distal, Type I
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Distal Arthrogryposis Type 1b
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Arthrogryposis, Distal, 1a
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Amc
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Arthrogryposis Multiplex Congenita
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Arthrogryposis, Distal, 2b4
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DA2B4
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Arthrogryposis Multiplex Congenita, Distal, Type 1
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Arthrogryposis
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| Androgen Insensitivity, Partial |
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Partial Androgen Insensitivity Syndrome
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Reifenstein Syndrome
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PAIS
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Androgen Insensitivity, Partial, With Or Without Breast Cancer
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Familial Incomplete Male Pseudohermaphroditism, Type 1
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Androgen Insensitivity Syndrome, Partial
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Androgen Resistance Syndrome, Partial
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Reifenstein Syndrome, Partial
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Partial Androgen Resistance Syndrome
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Androgen Insensitivity Partial With Or Without Breast Cancer
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Androgen Insensitivity Syndrome Partial
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Insensitivity Syndrome, Androgen, Partial, With/Without Breast Cancer Syndrome
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| Osteochondrodysplasia |
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Skeletal Dysplasia
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Chondrodystrophy
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Congenital Anomaly Of Cartilage
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Osteochondrodysplasias
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Cartilage Development Disorder
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Osteochondrodysplasia Syndrome
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Dysplasia, Skeletal
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Mucopolysaccharidosis Iv
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| Myopathy, Centronuclear, 4 |
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CNM4
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Centronuclear Myopathy 4
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Congenital Myopathy With Internal Nuclei And Atypical Cores
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Centronuclear Myopathy Type 4
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Myopathy, Centronuclear, Type 4
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| Complete Androgen Insensitivity Syndrome |
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Cais
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Complete Androgen Resistance Syndrome
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Androgen Insensitivity Syndrome Complete
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Androgen Insensitivity, Complete
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Androgen-Insensitivity Syndrome
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Testicular Feminization
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| Conn'S Syndrome |
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Cushing Syndrome
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Hyperaldosteronism
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Primary Hyperaldosteronism
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Hypercortisolism
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Primary Aldosteronism
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Cushing'S Syndrome
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Adrenal Gland Hyperfunction
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Conn Syndrome
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Hyperadrenalism
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Ectopic Acth Syndrome
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Hyperadrenocorticism
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Cushing Disease
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Cushing'S Disease
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Adrenal Cortex Adenoma
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Corticotroph Pituitary Adenoma
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Pituitary Corticotroph Micro-Adenoma
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Pituitary-Dependent Cushing Syndrome
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Pituitary Acth Hypersecretion
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Acth Syndrome, Ectopic
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Acth-Secreting Pituitary Adenoma
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Adrenal Hyperfunction Resulting From Pituitary Acth Excess
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Ectopic Adrenocorticotropic Hormone Syndrome
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Nodular Primary Adrenocortical Dysplasia
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Pituitary Dependent Cushing Syndrome
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Pituitary Cushing Syndrome
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Pituitary-Dependant Cushing Syndrome
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Pituitary-Dependant Hypercortisolism
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Pituitary-Dependant Hypercortisolism Disorder
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Aldosteronism Primary
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Acth Syndrome Ectopic
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Adrenal Cushing'S Syndrome
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Adrenal Cortical Adenoma
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Cushing Syndrome Nos
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Cortisol Hypersecretion
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Corticoadrenal Hypersecretion
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Cushing Syndrome Secondary To Ectopic Acth-Secretion
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Ectopic Cushing Syndrome
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Hypercortisolism Due To Nonpituitary Tumour
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Ectopic Acth - [Adrenocorticotropic Hormone] Secretion
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Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
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Idiopathic Aldosteronism
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Aldosteronism
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Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia
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Primary Aldosteronism Due To Adrenal Hyperplasia
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| Glycerol Kinase Deficiency |
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Hyperglycerolemia
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GKD
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Gk Deficiency
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Gk1 Deficiency
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Deficiency Of Glycerol Kinase
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Isolated Glycerol Kinase Deficiency
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Glycerol Kinase Deficiency, Adult Form
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Glycerol Kinase Deficiency, Juvenile Form
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Deficiency, Glycerol Kinase
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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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| Pseudohermaphroditism |
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Indeterminate Sex And Pseudohermaphroditism
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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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| 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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| Peroxisome Biogenesis Disorder 1b |
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Peroxisome Biogenesis Disorder
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Infantile Refsum Disease
|
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Infantile Phytanic Acid Storage Disease
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PBD1B
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Refsum Disease, Infantile
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Adrenoleukodystrophy, Autosomal Neonatal
|
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Ird
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Mild Pbd-Zsd
|
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Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
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Pbd-Zsd
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Peroxisome Biogenesis Disorder Spectrum
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Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
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Autosomal Neonatal Adrenoleukodystrophy
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Refsum Disease Infantile
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Peroxisome Biogenesis Disorders
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Peroxisome Biogenesis Disorder, Type 1b
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