| 疾病名称 |
别名 |
|
| Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism |
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X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
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Intellectual Developmental Disorder, X-Linked, With Isolated Growth Hormone Deficiency
|
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Mrgh
|
Mental Retardation, X-Linked, With Panhypopituitarism
|
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MRXGH
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Mental Retardation, X-Linked, With Isolated Growth Hormone Deficiency
|
|
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| Panhypopituitarism, X-Linked |
|
PHPX
|
X-Linked Panhypopituitarism
|
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Pituitary Dwarfism Iv
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Panhypopituitarism X-Linked
|
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Pituitary Dwarfism Iv, Formerly
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Panhypopituitarism - X-Linked
|
|
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| Septooptic Dysplasia |
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Septo-Optic Dysplasia
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De Morsier Syndrome
|
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Growth Hormone Deficiency With Pituitary Anomalies
|
SOD
|
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Pituitary Hormone Deficiency, Combined, 5
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Septo-Optic Dysplasia Spectrum
|
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Septo-Optic Dysplasia With Growth Hormone Deficiency
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Pituitary Hormone Deficiency, Combined 5
|
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Hypopituitarism And Septooptic 'Dysplasia'
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GHDPA
|
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CPHD5
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Dysplasia, Septo-Optic
|
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Kallmann Syndrome
|
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| Hypertrichosis Universalis Congenita, Ambras Type |
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Ambras Syndrome
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Hypertrichosis, Congenital Generalized
|
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HTC1
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HTC2
|
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Chromosome Xq27.1 Interchromosomal Insertion Syndrome
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Cgh
|
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Hcg
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Ambras Type Hypertrichosis Universalis Congenita
|
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X-Linked Congenital Generalized Hypertrichosis
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Congenital Generalized Hypertrichosis, Macias-Flores Type
|
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Macias Flores-Garcia Cruz-Rivera Syndrome
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Htc 1
|
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Hypertrichosis Universalis Congenita Ambras Type
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Hypertrichosis Congenital Generalized X-Linked
|
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Macias-Flores Garcia-Cruz Rivera Syndrome
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Congenital Generalized Hypertrichosis, Ambras Type
|
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| Non-Acquired Panhypopituitarism |
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Genetic Panhypopituitarism
|
|
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| 46,Xx Sex Reversal 1 |
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46,Xx Testicular Disorder Of Sex Development
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46,Xx Gonadal Dysgenesis
|
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SRXX1
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46,Xx Gonadal Dysgenesis, Complete, Sry-Positive
|
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46,Xx Testicular Dsd
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Xx Male Syndrome
|
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46,Xx Complete Gonadal Dysgenesis
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46,Xx Pure Gonadal Dysgenesis
|
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Follicular Stimulating Hormone-Resistant Ovaries
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Hypergonadotropic Ovarian Dysgenesis
|
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Ovotesticular Disorder Of Sex Development
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46,Xx Sex Reversal, Sry-Positive
|
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Xx Male, Sry-Positive
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46xx Sex Reversal 1
|
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46, Xx Gonadal Sex Reversal
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Xx Sex Reversal
|
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46,Xx Ovarian Dysgenesis
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Fsh-Ro
|
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Xx Female Gonadal Dysgenesis
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Xx-Gd
|
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46,Xx Ovotesticular Disorder Of Sex Development
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46,Xx Ovotesticular Dsd
|
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De La Chapelle Syndrome
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Xx, Male Syndrome
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46,Xx Gonadal Dysgenesis Complete Sry-Positive
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46,Xx Sex Reversal Sry-Positive
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46,Xx True Hermaphroditism Sry-Positive
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Ovotesticular Dsd
|
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Xx Male Sry-Positive
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Ovotesticular Disorders Of Sex Development
|
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46, Xx Testicular Disorders Of Sex Development
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Resistant Ovary Syndrome
|
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Dysgenetic Ovaries
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Fsh-Ro - [Follicular Stimulating Hormone-Resistant Ovaries]
|
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True Hermaphroditism
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Ovotestis
|
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True Hermaphrodite
|
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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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| Growth Hormone Deficiency |
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Somatotropin Deficiency
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Isolated Somatotropin Deficiency
|
|
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| Hypopituitarism |
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Pituitary Hypofunction
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Pituitary Insufficiency
|
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Pituitary Hormone Deficiency
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Subpituitarism
|
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Hypophyseal Dystrophy
|
Hypohypophysism
|
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Anterior Pituitary Insufficiency
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Deficient Secretion Of One Or More Pituitary Hormones
|
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Hypopituitarism Syndrome
|
Pituitary Deficiency
|
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Pituitary Failure
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Pituitary Insufficiency Nos
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Anterior Pituitary Hypofunction
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Deficient Secretion Of All Pituitary Hormones
|
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Hypopituitary Dwarfism
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Hyposomatotropic Dwarfism
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Hypophyseal Dwarfism
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Hypopituitary Cachexia
|
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Hypophyseal Short Stature
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Panhypopituitarism Syndrome
|
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Pituitary Cachexia
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Juvenile Hypopituitarism
|
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Pituitary Dwarfism
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Pituitary Gland Hypofunction
|
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Primary Hypopituitarism
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Secondary Hypogonadism
|
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Prepubertal Panhypopituitarism
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Prepubertal Dwarfism
|
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Postpartum Panhypopituitary Syndrome
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Postpartum Hypopituitarism
|
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Pituitary Short Stature
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Pituitary Infantilism
|
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Pituitary Hypogonadism
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Pituitary Hypoadrenocorticism
|
|
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| Pituitary Hypoplasia |
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Hypoplasia Of The Pituitary Gland
|
|
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| Hypoparathyroidism, X-Linked |
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HYPX
|
X-Linked Hypoparathyroidism
|
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Parathyroid Glands, Agenesis Of
|
Agenesis Of Parathyroid Glands
|
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Hypoparathyroidism X-Linked
|
Hypoparathyroidism - X-Linked
|
|
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| 46,Xx Sex Reversal 3 |
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SRXX3
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Chromosome Xq26 Duplication Syndrome
|
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46,Xx Sex Reversal, Sox3-Related
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46xx Sex Reversal 3
|
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46,Xx Male Sex Reversal Sox3-Related
|
|
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| Hypoparathyroidism |
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Hypoparathyroidism, Idiopathic
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Parathyroid, Underactivity Of
|
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Syndrome With Hypoparathyroidism
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Deficiency Of Parathyroid Hormone
|
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Parathyroid Gland Insufficiency
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Parathyroid Insufficiency
|
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Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
|
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| Complex Chromosomal Rearrangement |
|
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| Isolated Growth Hormone Deficiency |
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Congenital Ighd
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Congenital Isolated Gh Deficiency
|
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Congenital Isolated Growth Hormone Deficiency
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Non-Acquired Isolated Growth Hormone Deficiency
|
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Pituitary Dwarfism
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Dwarfism, Pituitary
|
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Isolated Somatotropin Deficiency
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Isolated Congenital Growth Hormone Deficiency
|
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Familial Isolated Growth Hormone Deficiency
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Ighd
|
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Dwarfism, Growth Hormone Deficiency
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Growth Hormone Deficiency Dwarfism
|
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Isolated Gh Deficiency
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Isolated Hgh Deficiency
|
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Isolated Human Growth Hormone Deficiency
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Isolated Somatotropin Deficiency Disorder
|
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Dwarfism Pituitary
|
|
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| Isolated Growth Hormone Deficiency Type Iii |
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Congenital Ighd Type Iii
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Congenital Isolated Gh Deficiency Type Iii
|
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Congenital Isolated Growth Hormone Deficiency Type Iii
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Fleisher Syndrome
|
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Growth Hormone Deficiency With Hypogammaglobulinemia
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Ighd Iii
|
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X-Linked Ighd
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X-Linked Isolated Growth Hormone Deficiency
|
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Isolated Growth Hormone Deficiency Type 3
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X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency
|
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X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency
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Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked
|
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Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked
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Ighd3
|
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Growth Hormone Deficiency, Isolated, Type Iii )
|
|
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| Lambert-Eaton Myasthenic Syndrome |
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Lambert-Eaton Syndrome
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Eaton-Lambert Syndrome
|
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Lems
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Lambert Eaton Myasthenic Syndrome
|
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Eaton Lambert Syndrome
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Lambert Eaton Syndrome
|
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Myasthenic Syndrome Of Lambert-Eaton
|
Myasthenic-Myopathic Syndrome Of Lambert-Eaton
|
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Lems - [Lambert-Eaton Myasthenic Syndrome]
|
|
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| Gonadal Dysgenesis |
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Gonadal Dysgenesis Syndrome
|
Turner Syndrome
|
|
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| Aniseikonia |
|
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| Neural Tube Defects |
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Spina Bifida
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Neural Tube Defect
|
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NTD
|
Neural Tube Defects, Susceptibility To
|
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Spinal Dysraphism
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Spina Bifida, Susceptibility To
|
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Rachischisis
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Cleft Spine
|
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Open Spine
|
Hydrocele Spinalis
|
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Neural Tube Defect Nos
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Sb - [Spina Bifida]
|
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Spinal Hernia Nos
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Spinal Fissure Nos
|
|
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| Hypertrichosis |
|
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| Hyperphosphatemia |
|
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| Pituitary Hormone Deficiency, Combined, 2 |
|
Panhypopituitarism
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Combined Pituitary Hormone Deficiency
|
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CPHD2
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Ateliotic Dwarfism With Hypogonadism
|
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Pituitary Dwarfism Iii
|
Hanhart Dwarfism
|
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Simmond'S Disease
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Simmonds' Disease
|
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Cphd
|
Pituitary Hormone Deficiency, Combined
|
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Hormone Deficiency, Pituitary, Combined, Type 2
|
Pituitary Dwarfism Type 3
|
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Sheehan Syndrome
|
|
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| Spastic Paraplegia 52, Autosomal Recessive |
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SPG52
|
Hereditary Spastic Paraplegia 52
|
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Cpsq6
|
Cerebral Palsy, Spastic Quadriplegic, 6, Formerly
|
|
Cpsq6, Formerly
|
Autosomal Recessive Spastic Paraplegia 52
|
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Spastic Quadriplegic Cerebral Palsy 6
|
Cerebral Palsy, Spastic Quadriplegic 6
|
|
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| Partington Syndrome |
|
X-Linked Reticulate Pigmentary Disorder
|
PRTS
|
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Partington X-Linked Mental Retardation Syndrome
|
Mrxs1
|
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Mrx36
|
Intellectual Developmental Disorder, X-Linked, Syndromic 1
|
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Partington Disease
|
Pdr
|
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Partington-Mulley Syndrome
|
Russell-Silver Syndrome, X-Linked
|
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Mental Retardation, X-Linked, Syndromic 1
|
Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
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Mental Retardation, X-Linked 36
|
X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
|
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X-Linked Russell-Silver Syndrome
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Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
|
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Intellectual Disability, X-Linked, Syndromic 1
|
Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
|
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Partington X-Linked Intellectual Disability Syndrome
|
X-Linked Intellectual Deficit-Dystonia-Dysarthria
|
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X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures
|
Familial Cutaneous Amyloidosis
|
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X-Linked Cutaneous Amyloidosis
|
Xlpdr
|
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X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome
|
Pigmentary Disorder, Reticulate, With Systemic Manifestations
|
|
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| Tracheal Cancer |
|
Tracheal Carcinoma
|
Malignant Neoplasm Of Trachea
|
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Tracheal Neoplasms
|
Pancoast Tumor
|
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Pulmonary Sulcus Neoplasm
|
Pancoast Syndrome
|
|
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| Hermaphroditism |
|
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| Hypogonadotropic Hypogonadism |
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Klinefelter Syndrome
|
Klinefelter'S Syndrome
|
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Xxy Syndrome
|
Xxy Trisomy
|
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Hypogonadotropism
|
47, Xxy
|
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Congenital Idiopathic Hypogonadotropic Hypogonadism
|
Isolated Congenital Gonadotropin Deficiency
|
|
47,Xxy Syndrome
|
47, Xxy Syndrome
|
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Klinefelters Syndrome
|
Hypogonadism
|
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Klinefelter Syndrome In Males
|
Klinefelter Syndrome, Unspecified
|
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Klinefelter Syndrome Karyotype 47, Xxy
|
|
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| Isolated Growth Hormone Deficiency, Type Ii |
|
Ighd Ii
|
Isolated Growth Hormone Deficiency Type Ii
|
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IGHD2
|
Growth Hormone Deficiency, Isolated, Type Ii
|
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Congenital Ighd Type Ii
|
Congenital Isolated Gh Deficiency Type Ii
|
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Congenital Isolated Growth Hormone Deficiency Type Ii
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant
|
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Growth Hormone Deficiency, Isolated, Autosomal Dominant
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant
|
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Autosomal Dominant Isolated Growth Hormone Deficiency
|
Autosomal Dominant Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 2
|
Growth Hormone Deficiency, Isolated Autosomal Dominant
|
|
Growth Hormone Deficiency, Isolated, 2
|
Growth Hormone Deficiency Isolated Autosomal Dominant
|
|
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| Hand-Foot-Genital Syndrome |
|
Hand-Foot-Uterus Syndrome
|
Hfgs
|
|
Hfg Syndrome
|
Hfu Syndrome
|
|
HFG
|
Hfu
|
|
Hand Foot Uterus Syndrome
|
Hand Foot Genital Syndrome
|
|
|
| Optic Nerve Hypoplasia, Bilateral |
|
Optic Nerve Hypoplasia
|
Bilateral Optic Nerve Hypoplasia
|
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Optic Nerve Hypoplasia, Familial Bilateral
|
Familial Bilateral Optic Nerve Hypoplasia
|
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Isolated Optic Nerve Hypoplasia/Aplasia
|
Optic Nerve Aplasia, Bilateral
|
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Onh
|
BONH
|
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Bilateral Optic Nerve Aplasia
|
Hypoplasia, Optic Nerve, Bilateral
|
|
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| Pituitary Gland Disease |
|
Pituitary Diseases
|
Pituitary Dysfunction
|
|
Pituitary Disease
|
Pituitary Deficiency
|
|
Pituitary Disorders
|
|
|
| Barre-Lieou Syndrome |
|
Cervicocranial Syndrome
|
Posterior Cervical Sympathetic Syndrome
|
|
|
| Congenital Central Hypoventilation Syndrome |
|
Cchs
|
Haddad Syndrome
|
|
Ondine Curse
|
Ondine Syndrome
|
|
Congenital Central Hypoventilation
|
Congenital Central Alveolar Hypoventilation Syndrome
|
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Congenital Failure Of Autonomic Control
|
Ondine'S Curse
|
|
Primary Alveolar Hypoventilation
|
Ondine-Hirschsprung Disease
|
|
Central Congenital Hypoventilation Syndrome
|
Congenital Ondine Curse
|
|
Idiopathic Congenital Central Alveolar Hypoventilation
|
Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome
|
|
Ondine-Hirschsprung Syndrome
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
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Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
| Disorder Of Sexual Development |
|
Disorder Of Sex Development
|
Disorders Of Sex Development
|
|
Sex Development Disorder
|
Sex Differentiation Disease
|
|
Dsd
|
Sex Differentiation Disorders
|
|
|
| 46,Xy Sex Reversal |
|
Swyer Syndrome
|
Pure Gonadal Dysgenesis 46,Xy
|
|
Gonadal Dysgenesis, Xy Female Type
|
Gonadal Dysgenesis, 46,Xy
|
|
46,Xy Cgd
|
46,Xy Complete Gonadal Dysgenesis
|
|
46,Xy Pure Gonadal Dysgenesis
|
46 Xy Gonadal Dysgenesis
|
|
46, Xy Cgd
|
46, Xy Complete Gonadal Dysgenesis
|
|
46, Xy Pure Gonadal Dysgenesis
|
Xy Pure Gonadal Dysgenesis
|
|
Female With 46,Xy Karyotype
|
Xy Females
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Spermatogenic Failure |
|
Azoospermia
|
Spgf
|
|
Spermatogenic Failure, Susceptibility To
|
Absent Sperm
|
|
Aspermatogenesis
|
Infertility Due To Azoospermia
|
|
Hypospermatogenesis
|
Azoospermatism
|
|
|
| Kallmann Syndrome |
|
Hypogonadism With Anosmia
|
Kallman'S Syndrome
|
|
Anosmic Hypogonadism
|
Anosmic Idiopathic Hypogonadotropic Hypogonadism
|
|
Hypogonadotropic Hypogonadism And Anosmia
|
Hypogonadotropic Hypogonadism-Anosmia Syndrome
|
|
Olfacto-Genital Pathological Sequence
|
Familial Hypogonadism With Anosmia
|
|
Kallman Syndrome
|
Dysplasia Olfactogenitalis Of De Morsier
|
|
Kallmann'S Syndrome
|
Congenital Hypogonadotropic Hypogonadism With Anosmia
|
|
|
| Cleft Palate, Isolated |
|
Cleft Palate
|
Isolated Cleft Palate
|
|
CPI
|
Cp
|
|
Palatoschisis
|
Cleft Palate Isolated
|
|
Uranostaphyloschisis
|
Congenital Fissure Of Palate
|
|
Cleft Of Secondary Palate
|
|
|
| Aniridia 1 |
|
Aniridia
|
Congenital Aniridia
|
|
AN1
|
An
|
|
Cataract With Late-Onset Corneal Dystrophy
|
Aplasia Of Iris
|
|
Absent Iris
|
Irideremia
|
|
Aniridia Ii, Formerly
|
An2, Formerly
|
|
An2
|
Aniridia Type Ii
|
|
Aniridia, Type 1
|
An-1
|
|
Absence Of Iris
|
Agenesis Of Iris
|
|
Congenital Absence Of Iris
|
Hereditary Aniridia
|
|
Sporadic Aniridia
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
