| 疾病名称 |
别名 |
|
| Microcephaly 6, Primary, Autosomal Recessive |
|
MCPH6
|
Primary Autosomal Recessive Microcephaly 6
|
|
Microcephaly, Primary Autosomal Recessive, 6
|
Microcephaly, Type 6, Primary, Autosomal Recessive
|
|
|
| Seckel Syndrome 4 |
|
SCKL4
|
Seckel Syndrome, Type 4
|
|
|
| Primary Microcephaly |
|
True Microcephaly
|
Microcephaly, Primary
|
|
|
| Microcephaly 1, Primary, Autosomal Recessive |
|
MCPH1
|
Premature Chromosome Condensation Syndrome
|
|
Pcc Syndrome
|
Primary Autosomal Recessive Microcephaly 1
|
|
Microcephaly, Primary Autosomal Recessive, 1
|
Premature Chromosome Condensation With Microcephaly And Mental Retardation
|
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Microcephaly Vera
|
True Microcephaly
|
|
Microcephaly, Type 1, Primary, Autosomal Recessive
|
Autosomal Recessive Primary Microcephaly
|
|
|
| Seckel Syndrome 5 |
|
SCKL5
|
Seckel Syndrome, Type 5
|
|
|
| Lissencephaly 3 |
|
LIS3
|
Lissencephaly Due To Tuba1a Mutation
|
|
Lissencephaly Type 3
|
Lissencephaly, Type 3
|
|
|
| Primary Autosomal Recessive Microcephaly |
|
Autosomal Recessive Primary Microcephaly
|
Mcph
|
|
True Microcephaly
|
Microcephalia Vera
|
|
Microcephaly Vera
|
Microcephaly Primary Hereditary
|
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Microcephaly, Primary, Autosomal Recessive
|
Primary Microcephaly
|
|
|
| Seckel Syndrome |
|
Microcephalic Primordial Dwarfism
|
Bird-Headed Dwarfism
|
|
Harper'S Syndrome
|
Virchow-Seckel Dwarfism
|
|
Nanocephalic Dwarfism
|
Sckl
|
|
Seckel-Type Dwarfism
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
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Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
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Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Microcephaly 9, Primary, Autosomal Recessive |
|
MCPH9
|
Primary Autosomal Recessive Microcephaly 9
|
|
Microcephaly, Type 9, Primary, Autosomal Recessive
|
|
|
| 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
|
|
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
|
|
Mopd Type Ii
|
Microcephalic Osteodysplastic Primordial Dwarfism 2
|
|
Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
|
|
|
| Microcephaly 14, Primary, Autosomal Recessive |
|
MCPH14
|
Primary Autosomal Recessive Microcephaly 14
|
|
Microcephaly, Type 14, Primary, Autosomal Recessive
|
|
|
| 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
|
|
|
| Microcephaly 17, Primary, Autosomal Recessive |
|
MCPH17
|
Primary Autosomal Recessive Microcephaly 17
|
|
|
| Seckel Syndrome 2 |
|
SCKL2
|
Seckel-Type Dwarfism 2
|
|
Microcephalic Primordial Dwarfism 2
|
Bird-Headed Dwarfism 2
|
|
Seckel Syndrome, Type 2
|
|
|
| Microcephaly 12, Primary, Autosomal Recessive |
|
MCPH12
|
Primary Autosomal Recessive Microcephaly 12
|
|
Microcephaly, Type 12, Primary, Autosomal Recessive
|
|
|
| Microcephaly 10, Primary, Autosomal Recessive |
|
MCPH10
|
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
|
|
Primary Autosomal Recessive Microcephaly 10
|
Microcephalic Primordial Dwarfism, Walsh Type
|
|
Microcephaly, Type 10, Primary, Autosomal Recessive
|
|
|
| Microlissencephaly |
|
|
| Microcephaly 18, Primary, Autosomal Dominant |
|
MCPH18
|
Primary Autosomal Dominant Microcephaly 18
|
|
|
| Microcephaly 16, Primary, Autosomal Recessive |
|
MCPH16
|
Primary Autosomal Recessive Microcephaly 16
|
|
|
| Microcephaly 11, Primary, Autosomal Recessive |
|
MCPH11
|
Primary Autosomal Recessive Microcephaly 11
|
|
Microcephaly, Type 11, Primary, Autosomal Recessive
|
|
|
| Microcephaly 13, Primary, Autosomal Recessive |
|
MCPH13
|
Primary Autosomal Recessive Microcephaly 13
|
|
Microcephaly, Type 13, Primary, Autosomal Recessive
|
|
|
| Tetanus Neonatorum |
|
Neonatal Tetanus
|
NNT
|
|
Trismus Neonatorum
|
Newborn Trismus
|
|
|
| Lissencephaly 2 |
|
Norman-Roberts Syndrome
|
Lissencephaly Syndrome, Norman-Roberts Type
|
|
LIS2
|
Lissencephaly With Cerebellar Hypoplasia
|
|
Lch
|
Lissencephaly Syndrome Norman-Roberts Type
|
|
Norman Roberts Lissencephaly Syndrome
|
Lissencephaly 3
|
|
Lis3
|
Microlissencephaly Type A
|
|
Norman-Roberts Lissencephaly Syndrome
|
Lissencephaly, Type 2
|
|
Cobblestone Lissencephaly
|
|
|
| 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
|
|
Isolated Growth Hormone Deficiency Type 1a
|
Congenital Ighd
|
|
Congenital Isolated Gh Deficiency
|
Congenital Isolated Growth Hormone Deficiency
|
|
Growth Hormone Deficiency, Isolated Autosomal Recessive
|
Illig Type Growth Hormone Deficiency
|
|
Non-Acquired Isolated Growth Hormone Deficiency
|
Growth Hormone Deficiency, Isolated, 1a
|
|
Growth Hormone Deficiency Isolated Autosomal Recessive
|
Dwarfism, Primordial
|
|
Dwarfism
|
|
|
| Isolated Growth Hormone Deficiency |
|
Congenital Ighd
|
Congenital Isolated Gh Deficiency
|
|
Congenital Isolated Growth Hormone Deficiency
|
Non-Acquired Isolated Growth Hormone Deficiency
|
|
Pituitary Dwarfism
|
Dwarfism, Pituitary
|
|
Isolated Somatotropin Deficiency
|
Isolated Congenital Growth Hormone Deficiency
|
|
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
|
|
Dwarfism Pituitary
|
|
|
| Band Heterotopia |
|
Subcortical Band Heterotopia
|
Double Cortex Syndrome
|
|
Subcortical Laminar Heterotopia
|
Double Cortex
|
|
Band Heterotopia Of Brain
|
BH
|
|
Heco
|
Heterotopic Cortex
|
|
Familial Band Heterotopia
|
Dc
|
|
Dc Syndrome
|
Heterotopia, Subcortical Band
|
|
Sbh
|
Sclh
|
|
Bhy
|
|
|
| Miller-Dieker Lissencephaly Syndrome |
|
Miller-Dieker Syndrome
|
Mds
|
|
MDLS
|
Miller Dieker Syndrome
|
|
Classical Lissencephaly Syndrome
|
Lissencephaly Due To 17p13.3 Deletion
|
|
Monosomy 17p13.3
|
Telomeric Deletion 17p
|
|
Classical Lissencephaly
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| 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
|
|
|
| Physical Disorder |
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| 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
|
|
|
