| 疾病名称 |
别名 |
|
| Menkes Disease |
|
Copper Transport Disease
|
Menkes Syndrome
|
|
MNK
|
Kinky Hair Disease
|
|
Steely Hair Disease
|
Menkes Kinky-Hair Syndrome
|
|
Mk
|
Steely Hair Syndrome
|
|
Menkea Syndrome
|
Md
|
|
Menkes Kinky Hair Syndrome
|
Hypocupremia, Congenital
|
|
Kinky Hair Syndrome
|
X-Linked Copper Deficiency
|
|
Menkes Kinky Hair Disease
|
|
|
| Occipital Horn Syndrome |
|
OHS
|
Eds Ix
|
|
Cutis Laxa X-Linked
|
Cutis Laxa, X-Linked
|
|
Cutis Laxa, X-Linked, Formerly
|
Ehlers-Danlos Syndrome, Occipital Horn Type, Formerly
|
|
Eds Ix, Formerly
|
Eds9, Formerly
|
|
Ehlers-Danlos Syndrome Type 9
|
Ehlers-Danlos Syndrome Type Ix
|
|
X-Linked Cutis Laxa
|
Ehlers-Danlos Syndrome, Occipital Horn Type
|
|
Eds9
|
Ehlers-Danlos Syndrome Occipital Horn Type
|
|
|
| Spinal Muscular Atrophy, Distal, X-Linked 3 |
|
SMAX3
|
Dsmax
|
|
X-Linked Distal Spinal Muscular Atrophy Type 3
|
X-Linked Distal Spinal Muscular Atrophy 3
|
|
Atp7a-Related Distal Motor Neuropathy
|
X-Linked Dhmn3
|
|
X-Linked Distal Hereditary Motor Neuropathy Type 3
|
X-Linked Dsma3
|
|
Spinal Muscular Atrophy, Distal, X-Linked Recessive
|
X-Linked Recessive Distal Spinal Muscular Atrophy
|
|
Distal Spinal Muscular Atrophy, X-Linked, 3
|
DSMAX3
|
|
Spinal Muscular Atrophy Distal X-Linked Recessive
|
Atrophy, Muscular, Spinal, Distal, X-Linked, Type 3
|
|
|
| Hirschsprung Disease 1 |
|
Hirschsprung Disease
|
Aganglionic Megacolon
|
|
Hscr
|
Hirschsprung'S Disease
|
|
Congenital Megacolon
|
Congenital Intestinal Aganglionosis
|
|
Colonic Aganglionosis
|
Hirschsprung Disease, Susceptibility To, 1
|
|
Hirschsprung Disease, Protection Against
|
HSCR1
|
|
Mgc
|
Pelvirectal Achalasia
|
|
Total Intestinal Aganglionosis
|
Megacolon, Aganglionic
|
|
Macrocolon
|
Hscr 1
|
|
Hirschsprung Disease Type 1
|
Hirschsprung Disease, Type 1
|
|
Congenital Dilatation Of Colon
|
Aganglionosis
|
|
Congenital Aganglionic Megacolon
|
Aganglionosis Of Colon
|
|
Bowel Aganglionosis
|
Colon Aganglionosis
|
|
Hirschsprung Megacolon
|
|
|
| Wilson Disease |
|
Hepatolenticular Degeneration
|
WD
|
|
Wilson'S Disease
|
WND
|
|
Westphal-Strumpell Syndrome
|
Copper Storage Disease
|
|
Cerebral Pseudosclerosis
|
Westphal Pseudosclerosis
|
|
Hepatolenticular Degeneration Syndrome
|
Copper Retention
|
|
Hepatocerebral Degeneration
|
Kinnier-Wilson Disease
|
|
Neurohepatic Degeneration
|
Progressive Hepatolenticular Degeneration
|
|
Lenticular Degenerative Disease
|
Wilson'S Syndrome
|
|
Lenticular Syndrome
|
|
|
| Spinal Muscular Atrophy |
|
Sma
|
5q Sma
|
|
Proximal Sma
|
Sma-Associated Sma
|
|
Spinal Amyotrophies
|
Spinal Amyotrophy
|
|
Spinal Muscle Degeneration
|
Spinal Muscle Wasting
|
|
Muscular Atrophy Spinal
|
Atrophy, Muscular, Spinal
|
|
Hereditary Motor Neuronopathy
|
Progressive Muscular Atrophy
|
|
Sma - [Spinal Muscular Atrophy]
|
|
|
| Muscular Atrophy |
|
Muscle Wasting
|
Amyotrophia
|
|
Wasting - Muscle
|
Skeletal Muscle Atrophy
|
|
|
| Disorder Of Copper Metabolism |
|
|
| Mastocytosis, Cutaneous |
|
Urticaria Pigmentosa
|
Cutaneous Mastocytosis
|
|
Diffuse Cutaneous Mastocytosis
|
Maculopapular Cutaneous Mastocytosis
|
|
Mastocytosis, Diffuse Cutaneous
|
MASTC
|
|
Mastocytosis, Maculopapular Cutaneous
|
Mastocytosis, Systemic, Somatic
|
|
Mastocytoma
|
Dcm
|
|
Diffuse Cutaneous Maculopapulous Mastocytosis
|
Up/Mpcm
|
|
Cm
|
Mastocytosis, Systemic
|
|
MASTSYS
|
Mast Cell Disease
|
|
Mast-Cell Disease
|
Mast Cell Leukemia
|
|
Mastocytosis, Indolent
|
Mastocytosis With Associated Hematologic Disorder
|
|
Mast Cell Neoplasm
|
Benign Mastocytoma
|
|
|
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Distal Spinal Muscular Atrophy Type 3
|
DSMA3
|
|
Spinal Muscular Atrophy, Chronic Distal, Autosomal Recessive
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 3
|
|
Dhmn3 And Dhmn4
|
Distal Hereditary Motor Neuropathy Type 3 And Type 4
|
|
Neuronopathy, Distal Hereditary Motor, Type Iv
|
Hmn4
|
|
Dhmn4
|
Neuropathy, Distal Hereditary Motor, Type Iv
|
|
Hmn Iv
|
Neuronopathy, Distal Hereditary Motor, Type Iii
|
|
Hmn3
|
Dhmn3
|
|
Hmn Iii
|
|
|
| Bladder Diverticulum |
|
Diverticulum Of Bladder
|
Diverticulum - Bladder
|
|
Bladder Diverticula
|
Vesical Diverticulum
|
|
Bladder Sacculation
|
|
|
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Mednik Syndrome
|
Erythrokeratodermia Variabilis 3
|
|
MEDNIK
|
Ekv3
|
|
Erythrokeratodermia Variabilis, Kamouraska Type
|
Mental Retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, Keratodermia
|
|
Intellectual Disability-Enteropathy-Deafness-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
|
Intellectual Disability-Enteropathy-Hearing Loss-Peripheral Neuropathy-Ichthyosis-Keratodermia Syndrome
|
|
Intellectual Disability, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
|
Erythrokeratodermia Variabilis Kamouraska Type
|
|
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, Keratoderma
|
|
|
| Copper Deficiency Myelopathy |
|
|
| Metal Metabolism Disorder |
|
Metal Metabolism, Inborn Errors
|
Inborn Metal Metabolism Disorder
|
|
|
| Cutis Laxa |
|
Generalized Elastolysis
|
Loose Skin
|
|
Dermatolysis
|
Dermatomegaly
|
|
Cutis Laxa Syndrome
|
|
|
| Adhesive Otitis Media |
|
Adhesive Middle Ear Disease
|
Chronic Adhesive Otitis Media
|
|
Adhesive Otitis
|
Fibrotic Adhesive Otitis Media
|
|
Adhesive Disorder Of Middle Ear
|
|
|
| Sialuria |
|
Sialuria, French Type
|
French Type Sialuria
|
|
Sialuria French Type
|
Sialic Acid Storage Disease
|
|
Sialic Acid Storage Disease, Finnish Type
|
Infantile Sialic Acid Storage Disease
|
|
|
| Mast-Cell Leukemia |
|
Mast Cell Leukemia
|
Leukemia, Mast-Cell
|
|
Leukemia Mast Cell
|
Mast Cell Leukaemia Nos
|
|
Mast Cell Leukaemia Without Mention Of Remission
|
|
|
| Discitis |
|
|
| Purulent Acute Otitis Media |
|
Acute Suppurative Otitis Media
|
Acute Or Subacute Suppurative Otitis Media
|
|
Acute Or Subacute Purulent Otitis Media
|
|
|
| Indolent Systemic Mastocytosis |
|
|
| Mast Cell Neoplasm |
|
Mastocytoma
|
Mast Cell Proliferative Disease
|
|
Mast Cell Tumor
|
Benign Mastocytoma
|
|
|
| Motor Neuron Disease |
|
Anterior Horn Cell Disease
|
Motor Neuron Diseases
|
|
Mnd - [Motor Neurone Disease]
|
Lou Gehrig Disease
|
|
Creeping Palsy
|
Creeping Paralysis
|
|
Bulbar Motor Neuron Disease
|
Bulbar Syndrome
|
|
Anterior Horn Cell Disorder
|
Hereditary Motor Neuron Disease
|
|
|
| Aggressive Systemic Mastocytosis |
|
Asm
|
Lymphadenopathic Mastocytosis With Eosinophilia
|
|
|
| Deficiency Anemia |
|
Anemia
|
Deficiency Anemias
|
|
Anaemia
|
|
|
| Nonaka Myopathy |
|
Gne Myopathy
|
Hibm
|
|
Distal Myopathy With Rimmed Vacuoles
|
Hereditary Inclusion Body Myopathy
|
|
Ibm2
|
Inclusion Body Myopathy, Quadriceps-Sparing
|
|
Qsm
|
Dmrv
|
|
Distal Myopathy, Nonaka Type
|
Inclusion Body Myopathy 2
|
|
Inclusion Body Myopathy, Autosomal Recessive
|
NM
|
|
Nonaka Distal Myopathy
|
Myopathy, Distal, With Or Without Rimmed Vacuoles
|
|
Inclusion Body Myopathy, Hereditary, Autosomal Recessive
|
Inclusion Body Myopathy Type 2
|
|
Quadriceps-Sparing Myopathy
|
Quadriceps Sparing Myopathy
|
|
Rimmed Vacuole Myopathy
|
Inclusion Body Myopathy 2, Autosomal Recessive, Formerly
|
|
Ibm2, Formerly
|
Hibm2
|
|
Hereditary Inclusion Body Myopathy Type 2
|
Inclusion Body Myopathy 2, Autosomal Recessive
|
|
Myopathy, Distal, With Rimmed Vacuoles
|
Inclusion Body Myopathy Autosomal Recessive
|
|
Myopathy, Inclusion Body, Type 2
|
Myopathy, Nonaka
|
|
|
| Systemic Mastocytosis |
|
Systemic Mast Cell Disease
|
Systemic Tissue Mast Cell Disease
|
|
Mastocytosis, Systemic
|
Smcd - Systemic Mast Cell Disease
|
|
Smcd
|
Mast Cell Disease, Systemic
|
|
Systemic Mast-Cell Disease
|
Systemic Mastocytoses
|
|
Mastocytosis Systemic
|
Corneal Dystrophy, Subepithelial Mucinous
|
|
Smcd - [Systemic Mast Cell Disease]
|
|
|
| Ovarian Cancer |
|
Ovarian Carcinoma
|
Ovarian Neoplasm
|
|
Malignant Tumour Of Ovary
|
Cancer Of The Ovary
|
|
Epithelial Ovarian Cancer
|
Neoplasm Of Ovary
|
|
Ovarian Neoplasms
|
Ovarian Cancers
|
|
Malignant Neoplasm Of Ovary
|
Primary Malignant Neoplasm Of Ovary
|
|
Ovarian Cancer, Somatic
|
Malignant Ovarian Tumor
|
|
Ovary Neoplasm
|
Primary Ovarian Cancer
|
|
Tumor Of The Ovary
|
Malignant Neoplasm Of The Ovary
|
|
Malignant Tumor Of The Ovary
|
Ovarian Malignant Tumor
|
|
OC
|
Ovarian Carcinomas
|
|
Cancer, Ovarian
|
Cancer Of Ovary
|
|
Ovary Cancer
|
Ca Ovary
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| Connective Tissue Disease |
|
Connective Tissue Diseases
|
Connective Tissue Disorder
|
|
Abnormality Of Connective Tissue
|
Disorder Of Connective Tissue
|
|
Connective Tissue Disorders
|
|
|
| Dopamine Beta-Hydroxylase Deficiency |
|
Noradrenaline Deficiency
|
Norepinephrine Deficiency
|
|
Dopamine Beta Hydroxylase Deficiency
|
Congenital Dopamine Beta-Hydroxylase Deficiency
|
|
Dopamine Beta-Hydroxylase Deficiency, Congenital
|
Dopamine Β-Hydroxylase
|
|
Dbh Deficiency
|
|
|
| Spinal Muscular Atrophy, Type Iii |
|
SMA3
|
Juvenile Spinal Muscular Atrophy
|
|
Kugelberg-Welander Disease
|
Sma Iii
|
|
Kugelberg-Welander Syndrome
|
Kws
|
|
Muscular Atrophy, Juvenile
|
Spinal Muscular Atrophy, Mild Childhood And Adolescent Form
|
|
Spinal Muscular Atrophy-3
|
Spinal Muscular Atrophy Type 3
|
|
Spinal Muscular Atrophy, Type Iii, Modifier Of
|
Type Iii Spinal Muscular Atrophy
|
|
Sma 3
|
Proximal Spinal Muscular Atrophy Type 3
|
|
Sma Type 3
|
Sma Type Iii
|
|
Sma-Iii
|
Spinal Muscular Atrophy 3
|
|
Spinal Muscular Atrophy Mild Childhood And Adolescent Form
|
Spinal Muscular Atrophy Type Iii
|
|
Wohlfart-Kugelberg-Welander Disease
|
Atrophy, Muscular, Spinal, Type Iii
|
|
|
| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
|
Arcl2, Classic Type
|
Arcl2, Debre Type
|
|
Autosomal Recessive Cutis Laxa Type 2, Classic Type
|
Autosomal Recessive Cutis Laxa Type 2, Debre Type
|
|
|
| Persistent Mild Asthma |
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Hermansky-Pudlak Syndrome |
|
Hps
|
Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells
|
|
Hermanski-Pudlak Syndrome
|
Hermansky Pudlak Syndrome
|
|
Platelet Storage Pool Deficiency
|
|
|
| Pick Disease Of Brain |
|
Pick Disease
|
Pick'S Disease
|
|
Pick Disease Of The Brain
|
Lobar Atrophy Of Brain
|
|
Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions
|
Behavioral Variant Of Frontotemporal Dementia
|
|
Dementia In Pick'S Disease
|
Lobar Atrophy Of The Brain
|
|
Bvftd
|
Bv-Ftd
|
|
PIDB
|
Picks Disease
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| Alzheimer Disease, Familial, 1 |
|
Alzheimer Disease
|
Alzheimer'S Disease
|
|
Presenile And Senile Dementia
|
AD1
|
|
Alzheimer Disease, Susceptibility To
|
Alzheimer Disease, Late-Onset, Susceptibility To
|
|
Alzheimer Disease 1, Familial
|
AD
|
|
Familial Alzheimer Disease
|
Alzheimer Disease, Late-Onset
|
|
Alzheimers Dementia
|
Alzheimer Dementia
|
|
Alzheimer Sclerosis
|
Alzheimer Syndrome
|
|
Alzheimer-Type Dementia
|
Dat
|
|
Primary Senile Degenerative Dementia
|
Sdat
|
|
Alzheimer Disease 1
|
Autosomal Dominant Alzheimer Disease
|
|
Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy
|
Late Onset Alzheimer Disease
|
|
Alzheimers Disease
|
Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy
|
|
Late-Onset Alzheimers Disease
|
Alzheimer'S Disease Pathway Kegg
|
|
Dementia Due To Alzheimer'S Disease
|
Alzheimer Disease Type 1
|
|
Alzheimers
|
|
|
