| 疾病名称 |
别名 |
|
| Masa Syndrome |
|
L1 Syndrome
|
Crash Syndrome
|
|
X-Linked Hydrocephalus Syndrome
|
SPG1
|
|
Gareis-Mason Syndrome
|
Spastic Paraplegia 1, X-Linked
|
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Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
|
L1cam Syndrome
|
|
Spastic Paraplegia 1
|
Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
|
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Clasped Thumb And Mental Retardation
|
Thumb, Congenital Clasped, With Mental Retardation
|
|
Adducted Thumb With Mental Retardation
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Hereditary Spastic Paraplegia 1
|
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X-Linked Complicated Hereditary Spastic Paraplegia Type 1
|
X-Linked Corpus Callosum Agenesis
|
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X-Linked Spastic Paraplegia 1
|
L1 Disease
|
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X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis
|
Adducted Thumb With Intellectual Disability
|
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Clasped Thumb And Intellectual Disability
|
Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
|
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Thumb Congenital Clasped With Intellectual Disability
|
X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
|
|
Adducted Thumbs-Mental Retardation Syndrome
|
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
|
|
Mental Retardation-Clasped Thumb Syndrome
|
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
|
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Spastic Paraplegia Type 1, X-Linked
|
MASA
|
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Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus
|
Crash
|
|
Masa Syndrome
|
|
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| Corpus Callosum, Partial Agenesis Of, X-Linked |
|
X-Linked Complicated Corpus Callosum Dysgenesis
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Corpus Callosum, Partial Agenesis Of
|
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Partial Agenesis Of The Corpus Callosum
|
Partial Agenesis Of Corpus Callosum
|
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Agenesis Of The Corpus Callosum, X-Linked, Partial
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ACCPX
|
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Agenesis, Corpus Callosum, Partial
|
|
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| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
X-Linked Hydrocephalus
|
Bickers-Adams Syndrome
|
|
Hsas
|
X-Linked Hsas
|
|
X-Linked Acqueductal Stenosis
|
X-Linked Hydrocephalus With Stenosis Of Aqueduct Of Sylvius
|
|
X-Linked Hydrocephalus Syndrome
|
Anomaly Of Aqueduct Of Sylvius
|
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Bicker-Adams Syndrome
|
Stenosis Of The Aqueduct Of Sylvius
|
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Atresia Of The Aqueduct Of Sylvius
|
Aqueduct Of Sylvius Stricture
|
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Congenital Aqueduct Of Sylvius Occlusion
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Congenital Obstruction Of Aqueduct Of Sylvius
|
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Congenital Stenosis Of Aqueduct Of Sylvius
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Hydrocephalus With Aqueduct Of Sylvius Stricture
|
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Aqueduct Of Sylvius Septum
|
Deformity Of Aqueduct Of Sylvius
|
|
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| Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
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Aqueductal Stenosis
|
Aqueductal Stenosis, X-Linked
|
|
Hsas
|
Hsas1
|
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Hycx
|
Hydrocephalus, X-Linked
|
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Xlas
|
X-Linked Hydrocephalus Syndrome
|
|
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| X-Linked Complicated Spastic Paraplegia Type 1 |
|
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| Hydrops Fetalis, Nonimmune |
|
Hydrops Fetalis
|
Non-Immune Hydrops Fetalis
|
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NIHF
|
Familial Non-Immune Hydrops Fetalis
|
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Hydrops Fetalis Nonimmune
|
Idiopathic Hydrops Fetalis
|
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Hb Bart'S Hydrops Fetalis
|
Alpha-Thalassemia Hydrops Fetalis
|
|
Alpha-Thalassemia Major
|
Hemoglobin Bart'S Hydrops Fetalis
|
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Homozygous Alpha0-Thalassemia
|
Fetal Anasarca
|
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Fetal Hydrops
|
Generalized Fetal Edema
|
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Hf
|
Non-Immune Hf
|
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Non-Immune Fetal Edema
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Non-Immune Fetal Hydrops
|
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Hydrops Fetalis, Non-Immune
|
Hemoglobin Bart'S Hydrops Syndrome
|
|
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| Aphasia |
|
|
| Hydrocephalus |
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive
|
Hydrocephalus, X-Linked
|
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Hydrocephalus Adverse Event
|
Hydrocephaly Nos
|
|
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| Nephrogenic Diabetes Insipidus |
|
Vasopressin-Resistant Diabetes Insipidus
|
Diabetes Insipidus, Nephrogenic
|
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Diabetes Insipidus Nephrogenic
|
Congenital Nephrogenic Diabetes Insipidus
|
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Adh Resistant Diabetes Insipidus
|
Diabetes Insipidus Nephrogenic X-Linked
|
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Diabetes Insipidus Nephrogenic Type 1
|
Adh-Resistant Diabetes Insipidus
|
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Diabetes Insipidus Renalis
|
Ndi
|
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Renal Diabetes Insipidus
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Familial Nephrogenic Diabetes
|
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Antidiuretic-Hormone-Resistant Diabetes Insipidus
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Adiuretin-Resistant Diabetes Insipidus
|
|
Ndi - [Nephrogenic Diabetes Insipidus]
|
Diabetes Tenuifluus
|
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Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus
|
Hereditary Nephrogenic Diabetes Insipidus
|
|
Familial Nephrogenic Diabetes Insipidus
|
Primary Nephrogenic Diabetes Insipidus
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
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| Congenital Hydrocephalus |
|
Hydrocephalus
|
Hydrocephalus Adverse Event
|
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
|
Hydrocephalus In Newborn
|
|
Congenital Hydrocephaly
|
|
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| Spastic Diplegia |
|
Diplegic Infantile Cerebral Palsy
|
Little'S Disease
|
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Cerebral Palsy
|
Cerebral Spastic Infantile Paralysis
|
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Infantile Diplegic Cerebral Palsy
|
Infantile Spastic Cerebral Palsy
|
|
Littles Disease
|
Spastic Cerebral Palsy
|
|
|
| Intestinal Pseudo-Obstruction |
|
Chronic Intestinal Pseudoobstruction
|
Chronic Intestinal Pseudo-Obstruction
|
|
Cipo
|
Neuronal Intestinal Dysplasia
|
|
Hollow Visceral Myopathy
|
Familial Visceral Neuropathy
|
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Paralytic Ileus
|
Intestinal Pseudoobstruction
|
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Chronic Idiopathic Intestinal Pseudo-Obstruction
|
Ciip
|
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Congenital Short Bowel Syndrome
|
Enteric Neuropathy
|
|
Familial Visceral Myopathy
|
Ipo
|
|
Pseudo-Obstruction Of Intestine
|
Pseudointestinal Obstruction Syndrome
|
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Pseudoobstructive Syndrome
|
Congenital Idiopathic Intestinal Pseudoobstruction
|
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Visceral Myopathy, Familial
|
|
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| Adrenoleukodystrophy |
|
X-Linked Adrenoleukodystrophy
|
ALD
|
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Siemerling-Creutzfeldt Disease
|
X-Ald
|
|
X-Linked Cerebral Adrenoleukodystrophy
|
Bronze Schilder Disease
|
|
Melanodermic Leukodystrophy
|
Addison Disease And Cerebral Sclerosis
|
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Adrenomyeloneuropathy, Adult
|
Diffuse Sclerosis
|
|
X-Cald
|
Adrenomyeloneuropathy
|
|
Encephalitis Periaxialis Concentrica
|
Encephalitis Periaxialis, Schilder'S
|
|
Sudanophilic Cerebral Sclerosis
|
Ald Childhood Cerebral Form
|
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Adrenoleukodystrophy X-Linked Cerebral Form
|
Adrenoleukodystrophy Childhood Cerebral Form
|
|
Childhood Cerebral Ald
|
Schilder Disease
|
|
X-Linked Ald
|
Adrenoleukodystrophy, X-Linked
|
|
Amn
|
Diffuse Cerebral Sclerosis Of Schilder
|
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Systemic Scleroderma
|
Balo'S Concentric Sclerosis
|
|
Ald - [Adrenoleukodystrophy]
|
Addison-Schilder
|
|
|
| Rela Fusion-Positive Ependymoma |
|
Supratentorial C11orf95-Rela Fused Ependymoma
|
C11orf95 Fusion-Positive Supratentorial Ependymoma
|
|
|
| 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
|
|
|
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
|
| Supratentorial Ependymoma |
|
|
| Seckel Syndrome 1 |
|
SCKL1
|
Nanocephalic Dwarfism
|
|
Microcephalic Primordial Dwarfism I
|
Seckel-Type Dwarfism
|
|
Bird-Headed Dwarfism
|
Sckl
|
|
Seckel Syndrome, Type 1
|
Seckel Syndrome
|
|
|
| Fetal Alcohol Spectrum Disorder |
|
Fetal Alcohol Spectrum Disorders
|
Fetal Alcohol Syndrome
|
|
|
| Fetal Alcohol Syndrome |
|
Fetal Alcohol Spectrum Disorders
|
Arbd
|
|
Arnd
|
Alcohol-Related Birth Defects
|
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Alcohol-Related Neurodevelopmental Disorder
|
Fas
|
|
Fasd
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk
|
|
Alcohol Related Birth Defect
|
Alcohol Related Neurodevelopmental Disorder
|
|
Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk
|
Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk
|
|
Dysmorphism Due To Alcohol
|
Fetal Etoh Syndrome
|
|
|
| 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
|
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Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| Cerebral Degeneration |
|
Brain Degeneration
|
Degenerative Brain Disorder
|
|
|
| Cerebral Palsy |
|
Infantile Cerebral Palsy
|
Mixed Cerebral Palsy
|
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Palsy Cerebral
|
Palsy, Cerebral
|
|
Cerebral Palsy, Mixed
|
|
|
| Neuroblastoma |
|
Nb
|
Neuroblastoma, Susceptibility To
|
|
Neuroblastomas
|
Central Neuroblastoma
|
|
|
| Colorectal Cancer |
|
Colon Cancer
|
Colorectal Carcinoma
|
|
Colon Carcinoma
|
Colorectal Cancer, Susceptibility To
|
|
Carcinoma Of Colon
|
CRC
|
|
Colorectal Cancer With Chromosomal Instability, Somatic
|
Colon Cancer, Somatic
|
|
Colon Cancer, Susceptibility To
|
Colonic Neoplasms
|
|
Colorectal Neoplasms
|
Colorectal Cancer, Somatic
|
|
Colon Cancer, Advanced, Somatic
|
Colonic Carcinoma
|
|
Colorectal Carcinomas
|
Colon Cancers
|
|
Colorectal Cancers
|
Cancer, Colorectal, Somatic
|
|
Cancer, Colon
|
Cancer, Colorectal, Susceptibility To
|
|
Colorectal Neoplasm
|
Colonic Neoplasm
|
|
Malignant Tumor Of Colon
|
|
|
| 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
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
