| 疾病名称 |
别名 |
|
| Septooptic Dysplasia |
|
Septo-Optic Dysplasia
|
De Morsier Syndrome
|
|
Growth Hormone Deficiency With Pituitary Anomalies
|
SOD
|
|
Pituitary Hormone Deficiency, Combined, 5
|
Septo-Optic Dysplasia Spectrum
|
|
Septo-Optic Dysplasia With Growth Hormone Deficiency
|
Pituitary Hormone Deficiency, Combined 5
|
|
Hypopituitarism And Septooptic 'Dysplasia'
|
GHDPA
|
|
CPHD5
|
Dysplasia, Septo-Optic
|
|
Kallmann Syndrome
|
|
|
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
|
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Pituitary Hormone Deficiency, Combined, 1
|
CPHD1
|
|
|
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Congenital Hypopituitarism
|
Pituitary Hormone Deficiency, Combined 1
|
|
Congenital Combined Pituitary Hormone Deficiency
|
Non-Acquired Combined Pituitary Hormone Deficiency
|
|
Cphd1
|
Familial Congenital Hypopituitarism
|
|
Multiple Pituitary Hormone Deficiencies, Genetic Forms
|
Combined Pituitary Hormone Deficiencies, Genetic Form
|
|
Hormone Deficiency, Pituitary, Combined, Type 1
|
|
|
| Pituitary Stalk Interruption Syndrome |
|
Ectopic Neurohypophysis
|
Psis
|
|
|
| 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
|
|
|
| Colobomatous Microphthalmia |
|
Anophthalmia-Microphthalmia Syndrome
|
Mac
|
|
Microphthalmia With Colobomatous Cyst
|
Microphthalmia-Anophthalmia-Coloboma Syndrome
|
|
Microphthalmia-Anophthalmia-Coloboma
|
Microphthalmia And Mental Deficiency
|
|
|
| Hypopituitarism |
|
Pituitary Hypofunction
|
Pituitary Insufficiency
|
|
Pituitary Hormone Deficiency
|
Subpituitarism
|
|
Hypophyseal Dystrophy
|
Hypohypophysism
|
|
Anterior Pituitary Insufficiency
|
Deficient Secretion Of One Or More Pituitary Hormones
|
|
Hypopituitarism Syndrome
|
Pituitary Deficiency
|
|
Pituitary Failure
|
Pituitary Insufficiency Nos
|
|
Anterior Pituitary Hypofunction
|
Deficient Secretion Of All Pituitary Hormones
|
|
Hypopituitary Dwarfism
|
Hyposomatotropic Dwarfism
|
|
Hypophyseal Dwarfism
|
Hypopituitary Cachexia
|
|
Hypophyseal Short Stature
|
Panhypopituitarism Syndrome
|
|
Pituitary Cachexia
|
Juvenile Hypopituitarism
|
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Pituitary Dwarfism
|
Pituitary Gland Hypofunction
|
|
Primary Hypopituitarism
|
Secondary Hypogonadism
|
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Prepubertal Panhypopituitarism
|
Prepubertal Dwarfism
|
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Postpartum Panhypopituitary Syndrome
|
Postpartum Hypopituitarism
|
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Pituitary Short Stature
|
Pituitary Infantilism
|
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Pituitary Hypogonadism
|
Pituitary Hypoadrenocorticism
|
|
|
| Growth Hormone Deficiency |
|
Somatotropin Deficiency
|
Isolated Somatotropin Deficiency
|
|
|
| Pituitary Hormone Deficiency, Combined, 2 |
|
Panhypopituitarism
|
Combined Pituitary Hormone Deficiency
|
|
CPHD2
|
Ateliotic Dwarfism With Hypogonadism
|
|
Pituitary Dwarfism Iii
|
Hanhart Dwarfism
|
|
Simmond'S Disease
|
Simmonds' Disease
|
|
Cphd
|
Pituitary Hormone Deficiency, Combined
|
|
Hormone Deficiency, Pituitary, Combined, Type 2
|
Pituitary Dwarfism Type 3
|
|
Sheehan Syndrome
|
|
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| Pituitary Gland Disease |
|
Pituitary Diseases
|
Pituitary Dysfunction
|
|
Pituitary Disease
|
Pituitary Deficiency
|
|
Pituitary Disorders
|
|
|
| Fryns Microphthalmia Syndrome |
|
Anophthalmia
|
Microphthalmia With Facial Clefting
|
|
Anophthalmia Plus Syndrome
|
Leichtman Wood Rohn Syndrome
|
|
Anophthalmia-Plus Syndrome
|
Anophthalmia, Cleft Lip/Palate, Facial Anomalies, And Cns Anomalies And Hypothalamic Disorder
|
|
Fryns Anophthalmia Syndrome
|
|
|
| Pituitary Hypoplasia |
|
Hypoplasia Of The Pituitary Gland
|
|
|
| Adamantinous Craniopharyngioma |
|
Adamantinous Rathke'S Pouch Tumor
|
Craniopharyngioma, Adamantinomatous
|
|
Adamantinomatous Craniopharyngioma
|
|
|
| Isolated Growth Hormone Deficiency Type Iii |
|
Congenital Ighd Type Iii
|
Congenital Isolated Gh Deficiency Type Iii
|
|
Congenital Isolated Growth Hormone Deficiency Type Iii
|
Fleisher Syndrome
|
|
Growth Hormone Deficiency With Hypogammaglobulinemia
|
Ighd Iii
|
|
X-Linked Ighd
|
X-Linked Isolated Growth Hormone Deficiency
|
|
Isolated Growth Hormone Deficiency Type 3
|
X-Linked Agammaglobulinemia And Isolated Growth Hormone Deficiency
|
|
X-Linked Hypogammaglobulinemia And Isolated Growth Hormone Deficiency
|
Agammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked
|
|
Hypogammaglobulinemia And Isolated Growth Hormone Deficiency, X-Linked
|
Ighd3
|
|
Growth Hormone Deficiency, Isolated, Type Iii )
|
|
|
| Hypothyroidism |
|
Thyroid Diseases
|
Thyroid Disease
|
|
Thyroid Deficiency
|
Thyroid Insufficiency
|
|
Dysfunction Thyroid
|
Thyroid Dysfunction
|
|
|
| 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
|
|
Onh
|
BONH
|
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Bilateral Optic Nerve Aplasia
|
Hypoplasia, Optic Nerve, Bilateral
|
|
|
| Macular Dystrophy, Patterned, 1 |
|
Patterned Macular Dystrophy 1
|
MDPT1
|
|
Patterned Dystrophy Of Retinal Pigment Epithelium
|
Macular Dystrophy, Butterfly-Shaped Pigmentary
|
|
Butterfly Dystrophy Of Retinal Pigment Epithelium
|
Butterfly-Shaped Pigmentary Maculary Dystrophy 1
|
|
Dystrophy, Macular, Patterned, Type 1
|
|
|
| Culler-Jones Syndrome |
|
Postaxial Polydactyly-Anterior Pituitary Anomalies-Facial Dysmorphism Syndrome
|
CJS
|
|
Pallister-Hall Syndrome 2, Formerly
|
Phs2, Formerly
|
|
Pallister-Hall Syndrome 2
|
Phs2
|
|
|
| Isolated Growth Hormone Deficiency |
|
Congenital Ighd
|
Congenital Isolated Gh Deficiency
|
|
Congenital Isolated Growth Hormone Deficiency
|
Non-Acquired Isolated Growth Hormone Deficiency
|
|
Pituitary Dwarfism
|
Dwarfism, Pituitary
|
|
Isolated Somatotropin Deficiency
|
Isolated Congenital Growth Hormone Deficiency
|
|
Familial Isolated Growth Hormone Deficiency
|
Ighd
|
|
Dwarfism, Growth Hormone Deficiency
|
Growth Hormone Deficiency Dwarfism
|
|
Isolated Gh Deficiency
|
Isolated Hgh Deficiency
|
|
Isolated Human Growth Hormone Deficiency
|
Isolated Somatotropin Deficiency Disorder
|
|
Dwarfism Pituitary
|
|
|
| Isolated Growth Hormone Deficiency, Type Ii |
|
Ighd Ii
|
Isolated Growth Hormone Deficiency Type Ii
|
|
IGHD2
|
Growth Hormone Deficiency, Isolated, Type Ii
|
|
Congenital Ighd Type Ii
|
Congenital Isolated Gh Deficiency Type Ii
|
|
Congenital Isolated Growth Hormone Deficiency Type Ii
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency Autosomal Dominant
|
|
Growth Hormone Deficiency, Isolated, Autosomal Dominant
|
Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant
|
|
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
|
|
|
| Alternating Esotropia |
|
|
| Peho Syndrome |
|
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy
|
Infantile Cerebellooptic Atrophy
|
|
PEHO
|
Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
|
|
Progressive Encephalopathy-Optic Atrophy Syndrome
|
|
|
| Hypogonadotropic Hypogonadism |
|
Klinefelter Syndrome
|
Klinefelter'S Syndrome
|
|
Xxy Syndrome
|
Xxy Trisomy
|
|
Hypogonadotropism
|
47, Xxy
|
|
Congenital Idiopathic Hypogonadotropic Hypogonadism
|
Isolated Congenital Gonadotropin Deficiency
|
|
47,Xxy Syndrome
|
47, Xxy Syndrome
|
|
Klinefelters Syndrome
|
Hypogonadism
|
|
Klinefelter Syndrome In Males
|
Klinefelter Syndrome, Unspecified
|
|
Klinefelter Syndrome Karyotype 47, Xxy
|
|
|
| Adrenal Hypoplasia, Congenital |
|
X-Linked Adrenal Hypoplasia Congenita
|
Congenital Adrenal Hypoplasia
|
|
AHC
|
Adrenal Hypoplasia, Congenital, With Hypogonadotropic Hypogonadism
|
|
Adrenal Hypoplasia Congenita
|
X-Linked Ahc
|
|
Ahch
|
Ahx
|
|
Ahc With Hhg
|
Cytomegalic Adrenocortical Hypoplasia
|
|
Ahc With Isolated Gonadotropin Deficiency
|
X-Linked Congenital Adrenal Hypoplasia
|
|
Congenital Adrenal Hypoplasia, X-Linked
|
Addison Disease, X-Linked
|
|
Primary Adrenal Hypoplasia
|
Adrenal Hypoplasia Congenital, X-Linked
|
|
X-Linked Addison Disease
|
X-Linked Adrenal Hypoplasia Congenital
|
|
Congenital Hypoplasia Of Adrenal Gland
|
Congenital Adrenal Gland Hypoplasia
|
|
Congenital Small Adrenal Gland
|
Adrenal Hypoplasia
|
|
Cah - [Congenital Adrenal Hypoplasia]
|
|
|
| Acth Deficiency, Isolated |
|
Adrenocorticotropic Hormone Deficiency
|
IAD
|
|
Congenital Isolated Acth Deficiency
|
Isolated Acth Deficiency
|
|
Isolated Adrenocorticotropic Hormone Deficiency
|
Adrenocorticotropic Hormone Deficiency
|
|
Adrenocorticotropic Hormone [Acth] Deficiency
|
Secondary Adrenocortical Insufficiency
|
|
|
| Pallister-Hall Syndrome |
|
PHS
|
Hypothalamic Hamartomas
|
|
Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, And Postaxial Polydactyly
|
Hypothalamic Hamartoblastoma Syndrome
|
|
Hamartoma Of The Hypothalamus
|
Pallister Hall Syndrome
|
|
Hall-Pallister Syndrome
|
Hypothalamic Hamartoblastoma Hypopituitarism Imperforate Anus And Postaxial Polydactyly
|
|
Hamartoma, Hypothalamic
|
|
|
| Gillespie Syndrome |
|
GLSP
|
Aniridia, Cerebellar Ataxia And Mental Deficiency
|
|
Aniridia Cerebellar Ataxia Mental Deficiency
|
Aniridia, Cerebellar Ataxia, And Mental Retardation
|
|
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
|
Aniridia-Cerebellar Ataxia-Intellectual Disability
|
|
Aniridia-Cerebellar Ataxia-Mental Deficiency
|
Partial Aniridia-Cerebellar Ataxia-Oligophrenia
|
|
Aniridia, Cerebellar Ataxia, And Intellectual Disability
|
|
|
| Esotropia |
|
Convergence In Manifest Squint
|
Crossed Eyes
|
|
Internal Strabismus
|
Convergent Concomitant Strabismus
|
|
Convergent Squint
|
Convergent Strabismus
|
|
Cross-Eye
|
|
|
| Coloboma Of Optic Nerve |
|
Morning Glory Disc Anomaly
|
Coloboma Of Optic Disc
|
|
Morning Glory Syndrome
|
Ectasic Coloboma
|
|
Coloboma Of Optic Papilla
|
Congenital Coloboma Of The Optic Nerve
|
|
Optic Nerve Coloboma
|
Optic Nerve Head Pits, Bilateral Congenital
|
|
Volubilis Syndrome
|
COLON
|
|
Coloboma Of Optic Disc, Unspecified Eye
|
Congenital Coloboma Of Optic Disc
|
|
Optic Disk Coloboma
|
|
|
| Holoprosencephaly |
|
Holoprosencephaly Sequence
|
Hpe
|
|
Hpe - [Holoprosencephaly]
|
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
Cryptorchidism
|
Undescended Testicle
|
|
Undescended Testis
|
Cryptorchism
|
|
Undescended Testicles
|
CRYPTO
|
|
Impaired Testicular Descent
|
Cryptosporidiosis
|
|
Retained Testis
|
Unilateral Cryptorchidism
|
|
Unilateral Undescended Testis
|
Nondescent Unilateral Testicle
|
|
Unilateral Cryptorchism
|
Ectopic Testis, Unilateral
|
|
Bilateral Cryptorchidism
|
Bilateral Cryptorchism
|
|
Bilateral Nondescent Testicle
|
Bilateral Undescended Testes
|
|
Bilateral Ectopic Testes
|
|
|
| 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
|
|
|
| Congenital Hypothyroidism |
|
Cretinism
|
Neonatal Hypothyroidism
|
|
Ch
|
Cht
|
|
Congenital Myxedema
|
Myxedema, Congenital
|
|
Endemic Cretinism
|
Congenital Iodine-Deficiency Syndrome
|
|
Fetal Iodine Deficiency Syndrome
|
Congenital Iodine-Deficiency Hypothyroidism Nos
|
|
|
| Coloboma Of Macula |
|
Coloboma
|
Congenital Ocular Coloboma
|
|
Microphthalmia, Isolated, With Coloboma
|
Agenesis Of Macula
|
|
Hereditary Macular Coloboma
|
Ocular Coloboma
|
|
Coloboma Of Eye
|
Macular Coloboma
|
|
Uveoretinal Coloboma
|
|
|
| Orofacial Cleft |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Strabismus |
|
Strabismus, Susceptibility To
|
Strabismus, Susceptibility To, 1
|
|
Strabismus 1
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
