| 疾病名称 |
别名 |
|
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
|
Majewski Osteodysplastic Primordial Dwarfism Type Ii
|
|
MOPD2
|
Mopd Ii
|
|
Osteodysplastic Primordial Dwarfism Type Ii
|
Mopdii
|
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Osteodysplastic Primordial Dwarfism Type 2
|
Osteodysplastic Primordial Dwarfism, Type Ii
|
|
Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism
|
Microcephalic Osteodysplastic Primordial Dwarfism Type 2
|
|
Mopd 2
|
Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities
|
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Mopd Type Ii
|
Microcephalic Osteodysplastic Primordial Dwarfism 2
|
|
Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
|
|
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| Seckel Syndrome |
|
Microcephalic Primordial Dwarfism
|
Bird-Headed Dwarfism
|
|
Harper'S Syndrome
|
Virchow-Seckel Dwarfism
|
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Nanocephalic Dwarfism
|
Sckl
|
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Seckel-Type Dwarfism
|
|
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| Seckel Syndrome 4 |
|
SCKL4
|
Seckel Syndrome, Type 4
|
|
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| Seckel Syndrome 2 |
|
SCKL2
|
Seckel-Type Dwarfism 2
|
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Microcephalic Primordial Dwarfism 2
|
Bird-Headed Dwarfism 2
|
|
Seckel Syndrome, Type 2
|
|
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| Isolated Growth Hormone Deficiency |
|
Congenital Ighd
|
Congenital Isolated Gh Deficiency
|
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Congenital Isolated Growth Hormone Deficiency
|
Non-Acquired Isolated Growth Hormone Deficiency
|
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Pituitary Dwarfism
|
Dwarfism, Pituitary
|
|
Isolated Somatotropin Deficiency
|
Isolated Congenital Growth Hormone Deficiency
|
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Familial Isolated Growth Hormone Deficiency
|
Ighd
|
|
Dwarfism, Growth Hormone Deficiency
|
Growth Hormone Deficiency Dwarfism
|
|
Isolated Gh Deficiency
|
Isolated Hgh Deficiency
|
|
Isolated Human Growth Hormone Deficiency
|
Isolated Somatotropin Deficiency Disorder
|
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Dwarfism Pituitary
|
|
|
| Bipolar Disorder |
|
Bipolar Depression
|
Manic Disorder
|
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Depression, Bipolar
|
Bipolar Disorder Manic Phase
|
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Depressive-Manic Psych.
|
Manic Bipolar Affective Disorder
|
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Manic Bipolar I Disorder
|
Manic Depression
|
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Manic Depressive Disorder
|
Mixed Bipolar Disorder
|
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Bipolar Affective Disorder
|
Bipolar Affective Psychosis
|
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Bipolar Spectrum Disorder
|
Manic Depressive Illness
|
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Depression Bipolar
|
Bipolar Disorder, Mixed
|
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Major Affective Disorder
|
Major Affective Disorder 1
|
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Major Affective Disorder 2
|
|
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| Isolated Growth Hormone Deficiency, Type Ia |
|
Ighd Ia
|
Primordial Dwarfism
|
|
Isolated Growth Hormone Deficiency Type Ia
|
Sexual Ateleiotic Dwarfism
|
|
Pituitary Dwarfism I
|
IGHD1A
|
|
Illig-Type Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, Type Ia
|
|
Congenital Ighd Type Ia
|
Congenital Isolated Gh Deficiency Type Ia
|
|
Congenital Isolated Growth Hormone Deficiency Type Ia
|
Pituitary Dwarfism 1
|
|
Growth Hormone Deficiency, Isolated, Autosomal Recessive
|
Autosomal Recessive Isolated Growth Hormone Deficiency
|
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Isolated Growth Hormone Deficiency Type 1a
|
Congenital Ighd
|
|
Congenital Isolated Gh Deficiency
|
Congenital Isolated Growth Hormone Deficiency
|
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Growth Hormone Deficiency, Isolated Autosomal Recessive
|
Illig Type Growth Hormone Deficiency
|
|
Non-Acquired Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, 1a
|
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Growth Hormone Deficiency Isolated Autosomal Recessive
|
Dwarfism, Primordial
|
|
Dwarfism
|
|
|
| Moyamoya Disease 1 |
|
Moyamoya Disease
|
Spontaneous Occlusion Of The Circle Of Willis
|
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Mymy
|
Progressive Intracranial Arterial Occlusion
|
|
Moyamoya Syndrome
|
MYMY1
|
|
Cerebrovascular Moyamoya Disease
|
Moya-Moya Disease
|
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Progressive Intracranial Occlusive Arteropathy
|
Idiopathic Moyamoya Disease
|
|
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| Primary Microcephaly |
|
True Microcephaly
|
Microcephaly, Primary
|
|
|
| Microcephaly 5, Primary, Autosomal Recessive |
|
MCPH5
|
Primary Autosomal Recessive Microcephaly 5
|
|
Microcephaly Primary Autosomal Recessive 5 With Simplified Gyral Pattern
|
Microcephaly, Primary Autosomal Recessive, 5
|
|
|
| Schizophrenia 1 |
|
SCZD1
|
Schizophrenia Susceptibility Locus, Chromosome 5-Related
|
|
Schizophrenia 1 With Or Without An Affective Disorder
|
|
|
| Primary Autosomal Recessive Microcephaly |
|
Autosomal Recessive Primary Microcephaly
|
Mcph
|
|
True Microcephaly
|
Microcephalia Vera
|
|
Microcephaly Vera
|
Microcephaly Primary Hereditary
|
|
Microcephaly, Primary, Autosomal Recessive
|
Primary Microcephaly
|
|
|
| Dubowitz Syndrome |
|
Dubowitz'S Syndrome
|
Dwarfism-Eczema-Peculiar Facies Syndrome
|
|
Intrauterine Growth Restriction, Short Stature, Microcephaly, Mild Intellectual Disability With Behavior Problems, Eczema, And Unusual And Distinctive Faci
|
|
|
| Meckel Syndrome, Type 1 |
|
Meckel-Gruber Syndrome
|
Meckel Syndrome
|
|
Dysencephalia Splanchnocystica
|
Meckel Syndrome 1
|
|
MKS1
|
Mks
|
|
Gruber Syndrome
|
Meckel-Gruber Syndrome, Type 1
|
|
Mes
|
Dysencephalia Splachnocystica
|
|
Meckel Gruber Syndrome
|
Meckel Syndrome Type 1
|
|
|
| Schizophrenia |
|
SCZD
|
Schizophrenia With Or Without An Affective Disorder
|
|
Schizophrenia 12
|
Schizophrenia, Susceptibility To
|
|
Schizophrenia-1
|
Dementia Praecox
|
|
Schizophrenia 1
|
|
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| Meier-Gorlin Syndrome 1 |
|
Meier-Gorlin Syndrome
|
Ear, Patella, Short Stature Syndrome
|
|
Microtia, Absent Patellae, Micrognathia Syndrome
|
MGORS1
|
|
Eps
|
Ear-Patella-Short Stature Syndrome
|
|
Ear Patella Short Stature Syndrome
|
Microtia Absent Patellae Micrognathia Syndrome
|
|
Meier-Gorlin Syndrome, Type 1
|
|
|
| Three M Syndrome 1 |
|
3-M Syndrome
|
Yakut Short Stature Syndrome
|
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3m Syndrome
|
Le Merrer Syndrome
|
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Dolichospondylic Dysplasia
|
Gloomy Face Syndrome
|
|
Three M Syndrome
|
3M1
|
|
3m Syndrome 1
|
Miller-Mckusick-Malvaux Syndrome
|
|
3-Msbn
|
Three-M Slender-Boned Nanism
|
|
Miller-Mckusick-Malvaux-Syndrome
|
3-M Syndrome 1
|
|
3m Syndrome-1
|
3m Syndrome, Type 1
|
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Dwarfism
|
Dwarfism Tall Vertebrae
|
|
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| Osteochondrodysplasia |
|
Skeletal Dysplasia
|
Chondrodystrophy
|
|
Congenital Anomaly Of Cartilage
|
Osteochondrodysplasias
|
|
Cartilage Development Disorder
|
Osteochondrodysplasia Syndrome
|
|
Dysplasia, Skeletal
|
Mucopolysaccharidosis Iv
|
|
|
| Mosaic Variegated Aneuploidy Syndrome |
|
Warburton-Anyane-Yeboa Syndrome
|
Mva Syndrome
|
|
Mosaic Variegated Aneuplody Microcephaly Syndrome
|
Warburton Anyane Yeboa Syndrome
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Nephronophthisis |
|
Medullary Cystic Disease
|
Medullary Cystic Kidney
|
|
Nph
|
Nphp
|
|
Kidney Disease, Cystic, Medullary
|
|
|
| Joubert Syndrome 1 |
|
Joubert Syndrome
|
Jbts
|
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
|
Cpd4
|
Cors1
|
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
|
Js
|
Cerebellar Vermis Agenesis
|
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
|
Joubert'S Syndrome
|
|
|
| Primary Ciliary Dyskinesia |
|
Immotile Cilia Syndrome
|
Kartagener Syndrome
|
|
Dextrocardia Bronchiectasis And Sinusitis
|
Pcd
|
|
Ciliary Motility Disorders
|
Ciliary Motility Disorder
|
|
Immotile Ciliary Syndrome
|
Ciliary Dyskinesia Primary
|
|
Ics
|
Polynesian Bronchiectasis
|
|
Dextrocardia-Bronchiectasis-Sinusitis Syndrome
|
Immotile Cilia Syndrome, Kartagener Type
|
|
Primary Ciliary Dyskinesia And Situs Inversus
|
Primary Ciliary Dyskinesia, Kartagener Type
|
|
Siewert Syndrome
|
Dyskinesia, Ciliary, Primary
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Leber Plus Disease |
|
Leber Congenital Amaurosis
|
Lca
|
|
Leber'S Amaurosis
|
Leber'S Disease
|
|
Amaurosis Congenita Of Leber
|
Amaurosis Congenita Of Leber, Type 1
|
|
Lhon Plus Disease
|
Congenital Absence Of The Rods And Cones
|
|
Congenital Retinal Blindness
|
Crb
|
|
Congenital Amaurosis Of Retinal Origin
|
Leber'S Congenital Amaurosis
|
|
Leber Congenital Amaurosis 1
|
Leber'S Congenital Tapetoretinal Degeneration
|
|
Leber'S Congenital Tapetoretinal Dysplasia
|
Lca1
|
|
Leber Congenital Amaurosis Type 1
|
Retinal Blindness, Congenital
|
|
Amaurosis, Leber Congenital
|
Dysgenesis Neuroepithelialis Retinae
|
|
Hereditary Epithelial Dysplasia Of Retina
|
Hereditary Retinal Aplasia
|
|
Heredoretinopathia Congenitalis
|
Leber Abiotrophy
|
|
Leber Congenital Tapetoretinal Degeneration
|
Lebers Congenital Amaurosis
|
|
Optic Atrophy, Hereditary, Leber
|
|
|
| Fundus Dystrophy |
|
Retinal Dystrophy
|
Retinal Dystrophies
|
|
Dystrophy, Retinal
|
|
|
| Retinitis Pigmentosa |
|
RP
|
Rod-Cone Dystrophy
|
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
|
Tapetoretinal Degeneration
|
Rcd
|
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
