| 疾病名称 |
别名 |
|
| Ichthyosis, X-Linked |
|
X-Linked Ichthyosis
|
Steroid Sulfatase Deficiency
|
|
Placental Steroid Sulfatase Deficiency
|
Steroid Sulfatase Deficiency Disease
|
|
XLI
|
Sts Deficiency
|
|
Ssdd
|
X-Linked Recessive Ichthyosis
|
|
X-Linked Ichthyosis With Steryl-Sulphatase Deficiency
|
X-Linked Placental Steryl-Sulphatase Deficiency
|
|
Ssd
|
X Linked Ichthyosis
|
|
Recessive X-Linked Ichthyosis
|
Rxli
|
|
Syndromic Recessive X-Linked Ichthyosis
|
Recessive X-Linked Ichthyosis With Extracutaneous Manifestations
|
|
Syndromic Rxli
|
X-Linked Ichthyosis Syndrome
|
|
IXL
|
Ichthyosis X-Linked
|
|
Sex-Linked Ichthyosis
|
X-Linked Ichthyosis With Steryl-Sulfatase Deficiency
|
|
|
| Ichthyosis |
|
Ichthyoses
|
Non-Syndromic Ichthyosis
|
|
Congenital Ichthyosis
|
|
|
| Ichthyosis Vulgaris |
|
Ichthyosis Simplex
|
Dominant Congenital Ichthyosiform Erythroderma
|
|
Common Ichthyosis
|
Fish Scale Disease
|
|
VI
|
Ichthyoses
|
|
Congenital Ichthyosis
|
|
|
| Multiple Sulfatase Deficiency |
|
Mucosulfatidosis
|
MSD
|
|
Sulfatidosis, Juvenile, Austin Type
|
Multiple Sulfatase Deficiency Disease
|
|
Juvenile Sulfatidosis, Austin Type
|
Juvenile Sulfatidosis
|
|
Sulfatidosis Juvenile, Austin Type
|
Austin Syndrome
|
|
Sulfatidosis Juvenile Austin Type
|
Sulfatase Deficiency, Multiple
|
|
|
| Chondrodysplasia Punctata Syndrome |
|
Chondrodysplasia Punctata
|
Chondrodysplasia Punctata Congenita
|
|
Toriello Higgins Miller Syndrome
|
Chondrodysplasia Punctata, Toriello Type
|
|
Toriello-Higgins-Miller Syndrome
|
Cdp
|
|
Chondrodysplasia Punctata, X-Linked Dominant Type
|
Chondrodysplasia Punctata Group
|
|
Dysplasia Punctata Epiphysis
|
Dysplasia Punctata
|
|
Dysplasia Epiphysealis Punctata
|
Chondrodystrophy Of Punctata
|
|
|
| Smith-Lemli-Opitz Syndrome |
|
SLOS
|
Rsh Syndrome
|
|
7-Dehydrocholesterol Reductase Deficiency
|
Slo Syndrome
|
|
Rutledge Lethal Multiple Congenital Anomaly Syndrome
|
Lethal Acrodysgenital Syndrome
|
|
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung
|
Smith-Opitz-Inborn Syndrome
|
|
Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobular Lung
|
Smith Lemli Opitz Syndrome
|
|
Smith-Lemli-Opitz Syndrome, Type Ii
|
|
|
| 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
|
|
|
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
CDPX2
|
Happle Syndrome
|
|
Chondrodysplasia Punctata, X-Linked Dominant
|
Cdpxd
|
|
Cpxd
|
Conradi-Hunermann Syndrome
|
|
Conradi-Hunermann-Happle Syndrome
|
Chondrodysplasia Punctata 2 X-Linked Dominant
|
|
X-Linked Dominant Chondrodysplasia Punctata 2
|
Conrad Hunermann Happle Syndrome
|
|
Conradi Hunermann Syndrome
|
Chh
|
|
Chondrodysplasia Punctata, Type 2, X-Linked Dominant
|
Chondrodysplasia Punctata, X-Linked Dominant Type
|
|
Chondrodysplasia Punctata
|
|
|
| Metachromatic Leukodystrophy |
|
Arylsulfatase A Deficiency
|
MLD
|
|
Arsa Deficiency
|
Sulfatide Lipidosis
|
|
Metachromatic Leukoencephalopathy
|
Cerebral Sclerosis, Diffuse, Metachromatic Form
|
|
Cerebroside Sulfatase Deficiency
|
Leukodystrophy, Metachromatic
|
|
Pseudoarylsulfatase A Deficiency
|
Leukodystrophy Metachromatic
|
|
Sulfatidosis
|
Metachromatic Leukodystrophy, Late Infantile
|
|
Metachromatic Leukodystrophy Variant
|
Deficiency Of Cerebroside-Sulfatase
|
|
Scholz Cerebral Sclerosis
|
Sulfatide Lipoidosis
|
|
Cerebral Sclerosis Diffuse Metachromatic Form
|
Arylsulfatase A Deficiency Disease
|
|
Cerebroside Sulphatase Deficiency Disease
|
Greenfield Disease
|
|
Metachromatic Leukodystrophy, Adult
|
Metachromatic Leukodystrophy, Juvenile
|
|
Leukodystrophy Metachromatic Adult
|
Leukodystrophy Metachromatic Juvenile
|
|
Leukodystrophy Metachromatic Late Infantile
|
Metachromatic Leukodystrophy, Adult Type
|
|
Metachromatic Leukodystrophy, Juvenile Type
|
Metachromatic Leukodystrophy, Infant
|
|
Greenfield'S Disease
|
|
|
| Ocular Albinism |
|
Albinism, Ocular
|
Oa
|
|
Xloa
|
Albinism Ocular
|
|
|
| Alopecia, Androgenetic, 1 |
|
Androgenetic Alopecia
|
Androgenic Alopecia
|
|
AGA1
|
Aga
|
|
Female Pattern Baldness
|
Male Pattern Alopecia
|
|
Male Pattern Baldness
|
Pattern Baldness
|
|
Alopecia, Androgenetic
|
Alopecia Androgenetic
|
|
Female Pattern Alopecia
|
|
|
| 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
|
|
|
| Endometriosis |
|
Endometriosis, Site Unspecified
|
Endometrial Ectopia
|
|
|
| Epidermolytic Hyperkeratosis |
|
Bullous Congenital Ichthyosiform Erythroderma
|
Bullous Ichthyosiform Erythroderma
|
|
EHK
|
Bullous Erythroderma Ichthyosiformis Congenita Of Brocq
|
|
Bcie
|
Bie
|
|
Epidermolytic Ichthyosis
|
Ichthyosis Bullosa Of Siemens
|
|
Superficial Epidermolytic Ichthyosis
|
Hyperkeratosis, Epidermolytic
|
|
Congenital Bullous Ichthyosiform Erythroderma
|
Bullous Type Ichthyosis
|
|
Epidermolytic Palmoplantar Hyperkeratosis
|
Bullous Ichthyosiform Erythroderma Congenita
|
|
Bullous Erythroderma Ichthyosiforme
|
Sei
|
|
Epidermolytic Hyperkeratosis Late-Onset
|
Epidermolytic Hyperkeratosis, Late-Onset
|
|
|
| Breast Cancer |
|
Breast Carcinoma
|
Male Breast Cancer
|
|
Breast Cancer, Familial
|
Malignant Neoplasm Of Breast
|
|
Breast Cancer, Susceptibility To
|
Breast Cancer, Early-Onset
|
|
Malignant Tumor Of Breast
|
Carcinoma Of Male Breast
|
|
Breast Cancer, Invasive Ductal
|
Breast Cancer, Protection Against
|
|
Breast Cancer, Somatic
|
Breast Cancer, Male
|
|
Breast Cancer, Lobular, Somatic
|
Breast Tumor
|
|
Mammary Cancer
|
Mammary Tumor
|
|
Malignant Neoplasm Of Male Breast
|
Mammary Carcinoma
|
|
Male Breast Carcinoma
|
Familial Cancer Of Breast
|
|
Invasive Ductal Breast Carcinoma
|
Breast Cancer Susceptibility
|
|
Breast Cancer, Male, Susceptibility To
|
Breast Cancer, Early-Onset, Susceptibility To
|
|
Malignant Tumor Of The Breast
|
Mammary Neoplasm
|
|
Primary Breast Cancer
|
Neoplasm Of Male Breast
|
|
Carcinoma Of Breast
|
Breast Cancer In Men
|
|
Familial Breast Cancer
|
Cancer Of Breast
|
|
BC
|
Breast Cancer Familial
|
|
Breast Cancer Familial Male
|
Breast Cancer, Familial Male
|
|
Breast Male Carcinoma
|
Breast Neoplasms
|
|
Breast Neoplasms, Male
|
Mammary Tumors
|
|
Mammary Carcinomas
|
Cancer, Breast
|
|
Cancer, Breast, Susceptibility
|
Invasive Breast Ductal Carcinoma
|
|
Breast Neoplasm
|
Susceptibility To Breast Cancer
|
|
Mammary Neoplasms
|
Animal Mammary Neoplasms
|
|
Primary Malignant Neoplasm Of Breast
|
Infiltrating Ductal Carcinoma Of Breast
|
|
Infiltrating Duct Carcinoma Of Unspecified Site
|
Infiltrating Ductular Carcinoma Of Unspecified Site
|
|
Invasive Breast Carcinoma Of No Special Type
|
Microinvasive Carcinoma Of Breast
|
|
Carcinoma With Apocrine Differentiation
|
|
|
| Endometrial Cancer |
|
Endometrial Carcinoma
|
Endometrial Neoplasm
|
|
Malignant Neoplasm Of Endometrium
|
Endometrioid Carcinoma
|
|
Endometrial Neoplasms
|
Carcinoma, Endometrioid
|
|
Endometrial Cancer, Familial
|
Endometrial Carcinoma, Somatic
|
|
Endometrial Cancer, Susceptibility To
|
Endometrial Ca
|
|
Malignant Endometrial Neoplasm
|
Neoplasm Of Endometrium
|
|
Primary Malignant Neoplasm Of Endometrium
|
Tumor Of Endometrium
|
|
Carcinoma Of The Endometrium
|
Endometrioid Carcinoma Of Female Reproductive System
|
|
ENDMC
|
Carcinoma Endometrioid
|
|
Endometrial Cancers
|
Cancer, Endometrial
|
|
Uterine Corpus Cancer
|
|
|
| Corneal Dystrophy, Thiel-Behnke Type |
|
Thiel-Behnke Corneal Dystrophy
|
Tbcd
|
|
CDTB
|
Cdb2
|
|
Corneal Dystrophy Of Bowman Layer Type Ii
|
Anterior Limiting Membrane Dystrophy Type Ii
|
|
Waardenburg-Jonker Corneal Dystrophy
|
Corneal Dystrophy Of Bowman Layer, Type Ii
|
|
Corneal Dystrophy, Honeycomb-Shaped
|
Corneal Dystrophy Honeycomb-Shaped
|
|
Corneal Dystrophy Thiel Behnke Type
|
Corneal Dystrophy Honeycomb Shaped
|
|
Corneal Dystrophy Of The Bowman Layer Type 2
|
Thiel Behnke Corneal Dystrophy
|
|
Anterior Limiting Membrane Dystrophy Type 2
|
Corneal Dystrophy Of Bowman Layer Type 2
|
|
Curly Fiber Corneal Dystrophy
|
Honeycomb Corneal Dystrophy
|
|
Honeycomb-Shaped Corneal Dystrophy
|
Dystrophy, Corneal, Thiel-Behnke Type
|
|
|
| Dysostosis |
|
|
| Cri-Du-Chat Syndrome |
|
5p Deletion Syndrome
|
5p Partial Monosomy Syndrome
|
|
Monosomy 5p
|
Cat Cry Syndrome
|
|
Chromosome 5p Deletion Syndrome
|
Cri Du Chat Syndrome
|
|
5p- Syndrome
|
5p Minus Syndrome
|
|
Chromosome 5p- Syndrome
|
Chromosome 5 Short Arm Deletion Syndrome
|
|
Chromosome 5p Deletion
|
Deletion 5p
|
|
Cri Du Chat
|
5p Partial Deletion Syndrome
|
|
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome
|
|
|
| Skin Disease |
|
Skin Diseases
|
Genodermatosis
|
|
Abnormality Of The Skin
|
Skin Diseases, Genetic
|
|
Skin And Subcutaneous Tissue Disease
|
Dermatologic Disorders
|
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
Lamellar Ichthyosis
|
Congenital Ichthyosiform Erythroderma
|
|
Li
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
|
Arci
|
Congenital Lamellar Ichthyosis
|
|
Nonbullous Congenital Ichthyosiform Erythroderma
|
Cie
|
|
Congenital Non-Bullous Ichthyosiform Erythroderma
|
Erythrodermic Ichthyosis
|
|
Nbcie
|
Ncie
|
|
Non-Bullous Congenital Ichthyosiform Erythroderma
|
Collodion Baby
|
|
Ichthyosis, Lamellar
|
Non Bullous Congenital Ichthyosiform Erythroderma
|
|
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form
|
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
|
|
Collodion Baby Syndrome
|
Ichthyoses, Lamellar
|
|
Nbie
|
Nonbullous Ichthyosiform Erythroderma
|
|
Classic Lamellar Ichthyosis
|
Ichthyosiform Erythroderma Nonbullous Congenital
|
|
Ichthyosiform Erythroderma Congenital
|
Ichthyosis, Congenital, Autosomal Recessive
|
|
Ichthyosiform Erythroderma, Congenital
|
Collodion Fetus
|
|
Non-Bullous Ichthyosiform Erythroderma
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
