| 疾病名称 |
别名 |
|
| Opitz-Kaveggia Syndrome |
|
Fg Syndrome
|
Fgs1
|
|
Fgs
|
Keller Syndrome
|
|
OKS
|
Fg Syndrome 1
|
|
Fg Syndrome Type 1
|
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
|
|
Intellectual Disability, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of Corpus Callosum
|
Mental Retardation, Large Head, Imperforate Anus, Congenital Hypotonia, And Partial Agenesis Of The Corpus Callosum
|
|
|
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Lujan-Fryns Syndrome
|
X-Linked Intellectual Disability With Marfanoid Habitus
|
|
MRXSLF
|
Mental Retardation, X-Linked, With Marfanoid Habitus, 1
|
|
|
| Ohdo Syndrome, X-Linked |
|
OHDOX
|
Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type
|
|
Ohdo Syndrome, Maat-Kievit-Brunner Type
|
Bmrs, Mkb Type
|
|
X-Linked Ohdo Syndrome
|
Blepharophimosis - Intellectual Disability Syndrome, Mkb Type
|
|
Ohdo Syndrome, Mkb Type
|
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type
|
|
Bmrs, Maat-Kievit-Brunner Type
|
Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner Type
|
|
Ohdo Syndrome Maat-Kievit-Brunner Type
|
Ohdo Syndrome Mkb Type
|
|
|
| Hardikar Syndrome |
|
Cholestasis-Pigmentary Retinopathy-Cleft Palate Syndrome
|
HDKR
|
|
Cholestasis With Pigmentary Retinopathy And Cleft Palate Syndrome
|
|
|
| Med12-Related Disorders |
|
|
| Lujan Syndrome |
|
Mental Retardation, X Linked, Marfanoid Habitus
|
Marfanoid Habitus, Mild General Hypotonia, Hypernasal Voice, Normal Testicular Size And Distinct Craniofacial Anomalies
|
|
Lfs
|
Lujan-Fryns Syndrome
|
|
X-Linked Intellectual Deficit With Marfanoid Habitus
|
X-Linked Mental Retardation With Marfanoid Habitus
|
|
Xlmr With Marfanoid Features
|
Mental Retardation, X-Linked, With Marfanoid Habitus
|
|
|
| Anus, Imperforate |
|
Imperforate Anus
|
Anorectal Malformation
|
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Anal Atresia
|
Anorectal Malformations
|
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Congenital Atresia Of Anus
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Congenital Or Infantile Occlusion Of Anus
|
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Anal Stenosis
|
Arm
|
|
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| Cardiomyopathy, Dilated, 1e |
|
Left Ventricular Noncompaction 9
|
Left Ventricular Noncompaction 5
|
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Dilated Cardiomyopathy 1e
|
Dilated Cardiomyopathy 1s
|
|
CMD1E
|
Cdcd2
|
|
Cardiomyopathy, Dilated, 1y
|
CMD1Y
|
|
Cardiomyopathy, Dilated, 1s
|
CMD1S
|
|
Dilated Cardiomyopathy 1y
|
Dilated Cardiomyopathy With Conduction Defect 2
|
|
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia
|
Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
|
|
Cardiomyopathy, Dilated, With Conduction Defect 2
|
Cardiomyopathy Dilated With Conduction Defect Type 2
|
|
Cardiomyopathy, Dilated 1e
|
Cardiomyopathy, Dilated 1s
|
|
Cardiomyopathy, Dilated 1y
|
Left Ventricular Non-Compaction 5
|
|
LVNC5
|
Left Ventricular Non-Compaction 9
|
|
LVNC9
|
Cardiomyopathy, Dilated, Type 1e
|
|
Cardiomyopathy, Dilated, Type 1s
|
Cardiomyopathy, Dilated, Type 1y
|
|
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| Corpus Callosum, Agenesis Of |
|
Corpus Callosum Agenesis
|
Agenesis Of The Corpus Callosum
|
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Isolated Corpus Callosum Agenesis
|
Acc
|
|
Non Rare In Europe: Isolated Corpus Callosum Agenesis
|
Congenital Malformation Of Corpus Callosum
|
|
Deformity Of Corpus Callosum
|
Absence Of Corpus Callosum
|
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Absent Corpus Callosum
|
Acc - [Agenesis Of Corpus Callosum]
|
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Aplasia Of Corpus Callosum
|
Congenital Absence Of Corpus Callosum
|
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Hypoplastic Corpus Callosum
|
Hypoplasia Of Corpus Callosum
|
|
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| Intellectual Disability - Hypoplastic Corpus Callosum - Preauricular Tag |
|
Da Silva Syndrome
|
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
|
|
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| Ohdo Syndrome |
|
Young Simpson Syndrome
|
Ohdo Blepharophimosis Syndrome
|
|
Blepharophimosis Syndrome Ohdo Type
|
Blepharophimosis Intellectual Disability Syndromes
|
|
Bmrs
|
Blepharophimosis-Intellectual Disability Syndrome
|
|
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth
|
Sbbys Syndrome
|
|
Say Barber Biesecker Young-Simpson Syndrome
|
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
|
|
Bmrs, Ohdo Type
|
Blepharophimosis Syndrome, Ohdo Type
|
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Ohdo-Madokoro-Sonoda Syndrome
|
Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
|
|
Blepharophimosis - Intellectual Disability Syndrome
|
|
|
| Fryns Syndrome |
|
Diaphragmatic Hernia, Abnormal Face, And Distal Limb Anomalies
|
FRNS
|
|
Moerman Van Den Berghe Fryns Syndrome
|
Diaphragmatic Hernia-Abnormal Face-Distal Limb Anomalies Syndrome
|
|
Nephrotic Syndrome - Frequently Relapsing
|
|
|
| Suppression Of Tumorigenicity 12 |
|
Prostate Adenocarcinoma
|
Adenocarcinoma Of Prostate
|
|
ST12
|
Prostate Adenocarcinoma 1
|
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Pac1
|
|
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| Hydrocephalus, Congenital, 1 |
|
Hydrocephaly
|
Ventriculomegaly
|
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
|
HYC1
|
|
Congenital Non-Communicating Hydrocephalus
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
|
|
Congenital Obstructive Hydrocephalus
|
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
|
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Hydrocephalus
|
|
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| Biliary Tract Disease |
|
Biliary Tract Diseases
|
Biliary Tract Abnormality
|
|
|
| Pancreatic Adenocarcinoma |
|
Adenocarcinoma Of The Pancreas
|
Adenocarcinoma Of Pancreas
|
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Pancreas Adenocarcinoma
|
Malignant Exocrine Neoplasm
|
|
Primary Pancreatic Adenocarcinoma
|
Adenocarcinoma Of Islet Cell Of Pancreas
|
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Islet Cell Adenocarcinoma Of Unspecified Site
|
Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site
|
|
|
| Breast Malignant Phyllodes Tumor |
|
Malignant Cystosarcoma Phyllodes
|
Malignant Phyllodes Tumor Of Breast
|
|
Malignant Phyllodes Tumour Of Breast
|
Phyllodes Breast Tumor
|
|
Phyllodes Tumor Of The Breast
|
Breast Malignant Phyllodes Tumour
|
|
Malignant Mammary Phyllodes Tumor
|
Malignant Mammary Phyllodes Tumour
|
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Malignant Phyllodes Neoplasm
|
Malignant Phyllodes Tumor
|
|
Malignant Phyllodes Tumour
|
Phyllodes Breast Neoplasm
|
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Phyllodes Breast Tumour
|
Phyllodes Tumor, Malignant
|
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Cystosarcoma Phyllodes
|
Cystosarcoma Phyllodes Of The Breast
|
|
Phylloides Tumor
|
Malignant Breast Phyllodes Tumor
|
|
Breast Phyllodes Tumor
|
Phyllodes Tumor
|
|
Malignant Phyllodes Cystosarcoma Of Unspecified Site
|
|
|
| Bizarre Leiomyoma |
|
Atypical Leiomyoma
|
Pleomorphic Leiomyoma
|
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Symplastic Leiomyoma
|
|
|
| Intravenous Leiomyomatosis |
|
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| Uterine Benign Neoplasm |
|
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| Reproductive Organ Benign Neoplasm |
|
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| Leiomyomatosis |
|
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| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
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| Gastric Adenocarcinoma |
|
Adenocarcinoma Of Stomach
|
Stomach Adenocarcinoma
|
|
Adenocarcinoma Gastric
|
Intestinal Type Adenocarcinoma Of Unspecified Site
|
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Diffuse Type Adenocarcinoma Of Unspecified Site
|
|
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| Thoracic Benign Neoplasm |
|
Benign Neoplasm Of Thorax
|
|
|
| Breast Benign Neoplasm |
|
Benign Tumour Of Breast
|
Benign Neoplasm Of Female Breast
|
|
|
| Leiomyoma Cutis |
|
Cutaneous Leiomyoma
|
Leiomyoma Of The Skin
|
|
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| Blepharophimosis |
|
|
| Dermis Tumor |
|
Dermis Tumour
|
Neoplasm Of Dermis
|
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Tumor Of Dermis
|
Tumour Of Dermis
|
|
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| Lung Squamous Cell Carcinoma |
|
Squamous Cell Carcinoma Of Lung
|
Squamous Cell Lung Carcinoma
|
|
Epidermoid Cell Carcinoma Of The Lung
|
Squamous Cell Lung Cancer
|
|
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| Cellular Leiomyoma |
|
|
| Myoma |
|
Muscle Benign Neoplasm
|
Myomatous Neoplasm
|
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Neoplasms, Muscle Tissue
|
Benign Neoplasm Of The Muscle
|
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Muscle Neoplasm
|
Muscle Tissue Neoplasm
|
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Myomatous Tumor
|
Neoplasm Of Muscle
|
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Muscle Neoplasms
|
Myomas
|
|
|
| Hypothyroidism |
|
Thyroid Diseases
|
Thyroid Disease
|
|
Thyroid Deficiency
|
Thyroid Insufficiency
|
|
Dysfunction Thyroid
|
Thyroid Dysfunction
|
|
|
| Atypical Polypoid Adenomyoma |
|
|
| Leiomyoma |
|
Leiomyomatous Neoplasm
|
Leiomyomatous Tumor
|
|
Leiomyomas
|
Fibroid Tumor
|
|
Uterine Fibroids
|
|
|
| Diffuse Peritoneal Leiomyomatosis |
|
Disseminated Peritoneal Leiomyomatosis
|
Leiomyomatosis Peritonealis Disseminata
|
|
Dpl
|
Lpd
|
|
Leiomyomatosis Peritonealis Disseminate
|
|
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| Leiomyosarcoma |
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Peritoneal Benign Neoplasm |
|
|
| Colon Leiomyoma |
|
|
| Breast Giant Fibroadenoma |
|
Giant Fibroadenoma
|
Giant Fibroadenoma Of Breast
|
|
|
| Papillary Hidradenoma |
|
Tubular Sweat Gland Adenomas
|
|
|
| Breast Fibroadenoma |
|
Fibroadenoma
|
Fibroadenoma Of Breast
|
|
Juvenile Fibroadenoma Of Breast
|
Cellular Fibroadenoma
|
|
Complex Fibroadenoma Of Breast
|
Juvenile Fibroadenoma
|
|
Fibroadenoma Nos
|
Fibroadenoma Unspecified Site
|
|
|
| Constipation |
|
|
| Breast Sarcoma |
|
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| Adenomyoma |
|
|
| 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
|
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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
|
|
|
| Smooth Muscle Tumor |
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Melnick-Needles Syndrome |
|
MNS
|
Melnick-Needles Osteodysplasty
|
|
Osteodysplasty Of Melnick And Needles
|
Osteochondrodysplasias
|
|
|
| Endometrial Stromal Sarcoma |
|
Ess
|
Endometrial Stromal Sarcoma, High Grade
|
|
Undifferentiated Endometrial Sarcoma
|
Stromal Sarcoma Of The Corpus Uteri
|
|
Sarcoma Endometrial Stromal
|
Sarcoma, Endometrial Stromal
|
|
Undifferentiated Stromal Sarcoma
|
|
|
| Hypotonia |
|
|
