| 疾病名称 |
别名 |
|
| Nicolaides-Baraitser Syndrome |
|
NCBRS
|
Nbs
|
|
Sparse Hair And Mental Retardation
|
Sparse Hair And Intellectual Disability
|
|
Intellectual Disability-Sparse Hair-Brachydactyly Syndrome
|
Nicolaides Baraitser Syndrome
|
|
|
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
|
| 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
|
|
Ohdo-Madokoro-Sonoda Syndrome
|
Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type
|
|
Blepharophimosis - Intellectual Disability Syndrome
|
|
|
| Blepharophimosis |
|
|
| Pituitary Stalk Interruption Syndrome |
|
Ectopic Neurohypophysis
|
Psis
|
|
|
| Clark-Baraitser Syndrome |
|
CLABARS
|
Baraitser Syndrome
|
|
Autosomal Dominant Intellectual Disability 49
|
Mental Retardation, Autosomal Dominant 49, Formerly
|
|
Mrd49, Formerly
|
Intellectual Developmental Disorder, Autosomal Dominant 49
|
|
Autosomal Dominant Mental Retardation 49
|
Intellectual Disability, Tall Stature, Obesity, Macrocephaly And Typical Facial Features
|
|
Mrd49
|
Progeria Short Stature Pigmented Nevi
|
|
|
| Schimke Immunoosseous Dysplasia |
|
Schimke Immuno-Osseous Dysplasia
|
SIOD
|
|
Immunoosseous Dysplasia, Schimke Type
|
Schimke Syndrome
|
|
Immunoosseous Dysplasia Schimke Type
|
Spondyloepiphyseal Dysplasia - Nephrotic Syndrome
|
|
Spondyloepiphyseal Dysplasia Nephrotic Syndrome
|
Spondyloepiphyseal Dysplasia-Nephrotic Syndrome
|
|
|
| Smarca4-Deficient Sarcoma Of Thorax |
|
Smarca4-Dts
|
Smarca4-Deficient Thoracic Sarcoma
|
|
|
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
ATMDS
|
Acquired Hemoglobin H Disease
|
|
Alpha-Thalassemia Myelodysplasia Syndrome, Somatic
|
Acquired Hbh Disease
|
|
Alpha-Thalassemia-Myelodysplastic Syndrome
|
Hemoglobin H Disease, Acquired
|
|
Acquired Alpha-Thalassemia With Myelodysplastic Syndrome
|
Hemoglobin H Disease Acquired
|
|
Thalassemia, Alpha, Myelodysplasia Syndrome, Somatic
|
|
|
| Retinoblastoma |
|
RB
|
Trilateral Retinoblastoma
|
|
RB1
|
Retinoblastoma, Trilateral
|
|
Neuroblastoma Of Retina
|
Rb - Retinoblastoma
|
|
Eye Cancer, Retinoblastoma
|
Retinal Cancer
|
|
Retinal Tumor
|
Glioma, Retinal
|
|
Non-Hereditary Retinoblastoma
|
Childhood Cancer Retinoblastoma
|
|
Malignant Neoplasm Of Retina
|
Retinal Neoplasms
|
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Atr-X Syndrome
|
Atr, Nondeletion Type
|
|
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
Atrx Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
|
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
|
|
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
|
Xlmr Hypotonic Face Syndrome
|
|
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
|
Alpha Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha Thalassemia/Mental Retardation, X-Linked
|
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
|
|
Xlmr-Hypotonic Face Syndrome
|
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
|
| Nasal Cavity Cancer |
|
Nasal Cavity Carcinoma
|
Malignant Neoplasm Of Nasal Cavities
|
|
Malignant Tumor Of The Nasal Cavity
|
Cancer Of Nasal Cavity
|
|
Carcinoma Of Nasal Cavity
|
Malignant Neoplasm Of Nasal Cavity
|
|
Neoplasm Of Nasal Cavity
|
|
|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
|
Css
|
CSS1
|
|
Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
|
Hhid
|
Dwarfism-Onychodysplasia
|
|
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
|
Short Stature-Onychodysplasia.
|
Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
|
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
|
Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
|
| Autosomal Dominant Intellectual Developmental Disorder |
|
Autosomal Dominant Mental Retardation
|
Autosomal Dominant Non-Syndromic Mental Retardation
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability
|
Mental Retardation, Autosomal Dominant
|
|
|
| Cockayne Syndrome |
|
Cockayne'S Syndrome
|
Dwarfism-Retinal Atrophy-Deafness Syndrome
|
|
Neill-Dingwall Syndrome
|
Progeria-Like Syndrome
|
|
Progeroid Nanism
|
Cs
|
|
|
| Basan Syndrome |
|
Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities
|
Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease
|
|
Baird Syndrome
|
Absence Of Fingerprints-Congenital Milia Syndrome
|
|
Absence Of Fingerprints Congenital Milia
|
Absence Of Dermatoglyphics Congenital Milia
|
|
Absence Of Dermatoglyphics-Congenital Milia Syndrome
|
Basan-Baird Syndrome
|
|
BSNS
|
Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities
|
|
|
| Floating-Harbor Syndrome |
|
FLHS
|
Fhs
|
|
Pelletier-Leisti Syndrome
|
Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes
|
|
Leisti-Hollander-Rimoin Syndrome
|
|
|
| Psychotic Disorder |
|
Psychotic Disorders
|
Mental Or Behavioural Disorder
|
|
Psychotic
|
Mental Disorders
|
|
|
| Ovarian Small Cell Carcinoma |
|
Small Cell Carcinoma Of The Ovary
|
Scco
|
|
Small Cell Ovarian Carcinoma
|
|
|
| Bartholin'S Gland Adenoid Cystic Carcinoma |
|
Bartholin Gland Adenoid Cystic Carcinoma
|
|
|
| Schizophrenia 7 |
|
SCZD7
|
Schizophrenia Susceptibility Locus, Chromosome 13q-Related
|
|
Schizophrenia 7 With Or Without An Affective Disorder
|
|
|
| Sinonasal Undifferentiated Carcinoma |
|
Highly Aggressive Undifferentiated Carcinoma Of The Nasal Cavity And Paranasal Sinuses
|
Snuc
|
|
|
| Rhabdoid Cancer |
|
Rhabdoid Tumor
|
Malignant Rhabdoid Tumor
|
|
Malignant Rhabdoid Tumour
|
Rhabdoid Sarcoma
|
|
Rhabdoid Tumor Predisposition Syndrome 1
|
Rhabdoid Tumor Predisposition Syndrome 2
|
|
Atypical Teratoid Rhabdoid Tumor
|
Brain Tumor, Posterior Fossa, Of Infancy, Familial
|
|
Atypical Teratoid/Rhabdoid Tumor
|
|
|
| Small-Cell Carcinoma Of The Ovary Of Hypercalcemic Type |
|
Hypercalcemic Type Ovarian Small Cell Carcinoma
|
Small Cell Carcinoma Of The Ovary, Hypercalcemic Type
|
|
Ovarian Small Cell Carcinoma, Hypercalcemic Type
|
|
|
| Cartilage-Hair Hypoplasia |
|
Metaphyseal Chondrodysplasia, Mckusick Type
|
CHH
|
|
Mckusick Type Metaphyseal Chondrodysplasia
|
Metaphyseal Dysplasia Without Hypotrichosis
|
|
Cartilage Hair Hypoplasia Like Syndrome
|
Metaphyseal Chondrodysplasia Mckusick Type
|
|
Chhv
|
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
|
|
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency
|
Cartilage-Hair Syndrome
|
|
Mckusick'S Metaphyseal Chondrodysplasia Syndrome
|
Metaphyseal Chondrodysplasia, Recessive Type
|
|
Autosomal Recessive Metaphyseal Chondrodysplasia
|
|
|
| Adenoid Cystic Carcinoma |
|
Adenocystic Carcinoma
|
Cribriform Carcinoma
|
|
Cylindroma
|
Carcinoma Adenoid Cystic
|
|
Carcinoma, Adenoid Cystic
|
Adenoid Cystic Carcinoma Of Salivary Gland
|
|
Eccrine Dermal Cylindroma
|
Carcinoma, Cribriform
|
|
|
| Large Cell Carcinoma With Rhabdoid Phenotype |
|
Large Cell Lung Carcinoma With Rhabdoid Phenotype
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
|
| Syndromic X-Linked Intellectual Disability Nascimento Type |
|
Mental Retardation, X-Linked Syndromic, Nascimento-Type
|
X-Linked Intellectual Disability-Nail Dystrophy-Seizures Syndrome
|
|
|
| Ovarian Endometrial Cancer |
|
Endometrioid Neoplasm Of Ovary
|
Malignant Ovarian Endometrioid Tumor
|
|
Ovarian Endometrioid Neoplasm
|
|
|
| Juvenile Type Testicular Granulosa Cell Tumor |
|
Juvenile Granulosa Cell Tumor
|
Juvenile Granulosa Cell Tumour
|
|
Juvenile Type Granulosa Cell Neoplasm
|
Juvenile Type Granulosa Cell Tumor
|
|
Juvenile Type Granulosa Cell Tumour
|
Juvenile Type Testicular Granulosa Cell Tumour
|
|
|
| Testicular Granulosa Cell Tumor |
|
Granulosa Cell Tumor Of Testis
|
Granulosa Cell Tumour Of Testis
|
|
Testicular Granulosa Cell Tumour
|
|
|
| Brachydactyly |
|
|
| Atypical Neurofibroma |
|
|
| Paranasal Sinus Cancer |
|
Paranasal Sinus Adenoid Cystic Carcinoma
|
Paranasal Sinus Mucoepidermoid Carcinoma
|
|
Paranasal Sinus Squamous Cell Carcinoma
|
Paranasal Sinus Neoplasms
|
|
Adenoid Cystic Carcinoma Of Accessory Sinus
|
Adenoid Cystic Carcinoma Of Paranasal Sinus
|
|
Epidermoid Carcinoma Of The Paranasal Sinus
|
Mucoepidermoid Carcinoma Of Accessory Sinus
|
|
Paranasal Sinus Adenocarcinoma
|
Squamous Cell Carcinoma Of Paranasal Sinus
|
|
Paranasal Sinus Neoplasm
|
Adenocarcinoma Of Accessory Sinus
|
|
|
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome |
|
Icf Syndrome
|
Immunodeficiency Syndrome, Variable
|
|
Ciid
|
Centromeric Instability, Immunodeficiency Syndrome
|
|
Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16
|
Icf
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 93 |
|
Mrx93
|
X-Linked Mental Retardation With Macrocephaly
|
|
|
| Ovarian Clear Cell Carcinoma |
|
Clear-Cell Ovarian Carcinoma
|
|
|
| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
|
Rett Disorder
|
Rts
|
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
|
Rett'S Syndrome
|
Atypical Rtt
|
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| Bladder Urothelial Carcinoma |
|
Bladder Transitional Cell Carcinoma
|
Transitional Cell Carcinoma Of Bladder
|
|
Transitional Cell Carcinoma Of The Bladder
|
Urinary Bladder Urothelial Carcinoma
|
|
Urothelial Bladder Carcinoma
|
Carcinoma Transitional Cell Bladder
|
|
Tcc - [Transitional Cell Carcinoma] Of Bladder
|
|
|
| Chromosome 16p13.3 Deletion Syndrome, Proximal |
|
Rubinstein-Taybi Syndrome
|
Broad Thumb-Hallux Syndrome
|
|
Chromosome 16p13.3 Deletion Syndrome
|
Rubinstein-Taybi Syndrome Due To 16p13.3 Microdeletion
|
|
Rubinstein Syndrome
|
Broad Thumbs-Halluces Syndrome
|
|
Rsts
|
Rubinstein-Taybi Deletion Syndrome
|
|
Rsts Deletion Syndrome
|
Proximal Chromosome 16p13.3 Deletion Syndrome
|
|
16p13.3 Deletion Syndrome
|
Broad Thumbs And Great Toes, Characteristic Facies, And Intellectual Disability
|
|
Rts
|
|
|
| Schizoaffective Disorder |
|
Schizo-Affective Psychosis
|
Schizo-Affective Type Schizophrenia
|
|
Schizoaffective Psychosis
|
Schizoaffective Schizophrenia
|
|
Schizophrenia, Schizo-Affective Type
|
Schizophreniform Psychosis, Affective Type
|
|
|
| Spondyloepimetaphyseal Dysplasia |
|
Dysplasia, Spondyloepimetaphyseal
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Neurilemmomatosis |
|
Schwannomatosis
|
Neurofibromatosis Type 3
|
|
Nf3
|
Neurilemmomatosis Congenital Cutaneous
|
|
Neurinomatosis
|
Congenital Cutaneous Neurilemmomatosis
|
|
Multiple Neurilemmomas
|
Multiple Schwannomas
|
|
Neurilemmomatosis, Congenital Cutaneous
|
Schwannomatosis 1
|
|
Neurofibromatosis 3
|
Mixed Central And Peripheral Neurofibromatosis
|
|
Nf3 - [Neurofibromatosis Type 3]
|
|
|
| Borjeson-Forssman-Lehmann Syndrome |
|
BFLS
|
Borj
|
|
Borjeson Syndrome
|
Mrxsbfl
|
|
Intellectual Deficiency-Epilepsy-Endocrine Disorders Syndrome
|
Intellectual Disability-Epilepsy-Endocrine Disorders Syndrome
|
|
Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type
|
Mental Retardation, Epilepsy, And Endocrine Disorders
|
|
Mental Retardation, Epilepsy, And Endocrine Disorder
|
Syndromic X-Linked Mental Retardation Borjeson-Forssman-Lehmann Type
|
|
Mental Deficiency, Epilepsy And Endocrine Disorders
|
Boerjeson-Forssman-Lehmann Syndrome
|
|
Borjeson-Forssman Syndrome
|
Mental Deficiency-Epilepsy- Endocrine Disorders
|
|
|
| Schizophrenia 12 |
|
Sczd12
|
Schizophrenia Susceptibility Locus, Chromosome 1p-Related
|
|
|
| Atypical Teratoid Rhabdoid Tumor |
|
Rhabdoid Tumor Predisposition Syndrome
|
Rtps
|
|
Atypical Teratoid/Rhabdoid Tumor
|
Rhabdoid Predisposition Syndrome
|
|
Familial Posterior Fossa Brain Tumor Of Infancy
|
Familial Rhabdoid Tumor
|
|
At/Rt
|
Atypical Teratoid Rhabdoid Tumour
|
|
Atypical Teratoid/Rhabdoid Tumour
|
Rhabdoid Tumor Of The Cns
|
|
Rhabdoid Tumour Of The Cns
|
Familial Posterior Fossa Brain Tumor Syndrome
|
|
Hereditary Swi/Snf Deficiency Syndrome
|
Atrt
|
|
|
| Cockayne Syndrome B |
|
Cockayne Syndrome Type 2
|
Cockayne Syndrome, Type B
|
|
Cockayne Syndrome Type Ii
|
CSB
|
|
Cockayne Syndrome 2
|
Cockayne Syndrome Type B
|
|
Ckn2
|
Cockayne Syndrome, Type Ii
|
|
|
| Familial Isolated Trichomegaly |
|
|
| Charge Syndrome |
|
Charge Association
|
Hall-Hittner Syndrome
|
|
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies
|
Hhs
|
|
Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies
|
Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome
|
|
CHARGES
|
|
|
| Uv-Sensitive Syndrome |
|
Uvss
|
Uv Sensitive Syndrome
|
|
Ultraviolet Sensitive Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy 14 |
|
Malignant Migrating Partial Seizures Of Infancy
|
Eiee14
|
|
Epilepsy Of Infancy With Migrating Focal Seizures
|
Mmpsi
|
|
DEE14
|
Epileptic Encephalopathy, Early Infantile, 14
|
|
Early Infantile Epileptic Encephalopathy 14
|
Malignant Migrating Partial Epilepsy Of Infancy
|
|
Migrating Partial Epilepsy Of Infancy
|
Migrating Partial Seizures Of Infancy
|
|
Mmpei
|
Mpei
|
|
Mpsi
|
Malignant Migrating Focal Seizures Of Infancy
|
|
Migrating Partial Seizures In Infancy
|
Developmental And Epileptic Encephalopathy, 14
|
|
Encephalopathy, Epileptic, Early Infantile, Type 14
|
|
|
| Microphthalmia |
|
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
|
Globe Of Eye Small
|
Small Eyeball
|
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
| Primary Hyperoxaluria |
|
Hyperoxaluria
|
Hyperoxaluria, Primary
|
|
Oxalosis
|
Primary Oxalosis
|
|
Congenital Oxaluria
|
D-Glycerate Dehydrogenase Deficiency
|
|
Glyceric Aciduria
|
Glycolic Aciduria
|
|
Hepatic Agt Deficiency
|
Oxaluria, Primary
|
|
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
|
Primary Oxaluria
|
|
Hyperoxaluria Primary
|
Primary Hyperoxaluria Type 2
|
|
Primary Hyperoxaluria, Type I
|
|
|
| Hypertrichosis |
|
|
| Cornelia De Lange Syndrome |
|
De Lange Syndrome
|
Brachmann De Lange Syndrome
|
|
Brachmann-De Lange Syndrome
|
Cdls
|
|
Bdls
|
Typus Degenerativus Amstelodamensis
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
