| 疾病名称 |
别名 |
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 1 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k
|
Lgmd2k
|
|
MDDGC1
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11
|
|
Lgmdr11
|
Muscular Dystrophy, Limb-Girdle, Type 2k
|
|
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome
|
Limb-Girdle Muscular Dystrophy Type 2k
|
|
Muscular Dystrophy Limb-Girdle Type 2k
|
Muscular Dystrophy-Dystroglycanopathy Type C 1
|
|
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
|
Lgmd Type 2k
|
|
Pomt1-Related Lgmd R11
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2k
|
Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 1 |
|
MDDGB1
|
Muscular Dystrophy-Dystroglycanopathy , Type B1
|
|
Muscular Dystrophy, Congenital, Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B1
|
|
Cmd Due To Dystroglycanopathy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
|
|
Muscular Dystrophy Congenital Pomt1-Related
|
Muscular Dystrophy-Dystroglycanopathy
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type B1
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 1 |
|
Hard Syndrome
|
MDDGA1
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Muscular Dystrophy-Dystroglycanopathy , Type A1
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
|
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1
|
|
Cerebroocular Dysgenesis
|
Cod
|
|
Hard +/- E Syndrome
|
Hydrocephalus-Agyria-Retinal Dysplasia
|
|
Meb
|
Muscle-Eye-Brain Disease
|
|
Muscle-Eye-Brain Disease Pomt1-Related
|
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a
|
|
Walker-Warburg Syndrome
|
Walker-Warburg Syndrome Pomt1-Related
|
|
Warburg Syndrome
|
Wws
|
|
Dystrophy, Muscular, Dystroglycanopathy , Type A1
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Muscle Eye Brain Disease
|
|
|
| Walker-Warburg Syndrome |
|
Hard Syndrome
|
Walker-Warburg Congenital Muscular Dystrophy
|
|
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
|
Cod-Md Syndrome
|
|
Chemke Syndrome
|
Hydrocephalus, Agyria And Retinal Dysplasia
|
|
Cerebroocular Dysgenesis
|
Cerebroocular Dysplasia Muscular Dystrophy Syndrome
|
|
Hard +/- E Syndrome
|
Pagon Syndrome
|
|
Warburg Syndrome
|
Hydrocephalus, Agyria, And Retinal Dysplasia
|
|
Mddga
|
Muscular Dystrophy-Dystroglycanopathy , Type A
|
|
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A
|
Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
|
|
Wws
|
Dystrophy, Muscular, Dystroglycanopathy, Type A
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Cmd With Intellectual Disability
|
Cmd-Mr
|
|
|
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cmd Without Intellectual Disability
|
Cmd-No Mr
|
|
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability
|
|
|
| Muscle Eye Brain Disease |
|
Muscle-Eye-Brain Disease
|
Muscle-Eye-Brain Syndrome
|
|
Meb
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
|
|
Meb Syndrome
|
Santavuori Congenital Muscular Dystrophy
|
|
|
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cmd With Cerebellar Involvement
|
Cmd-Crb
|
|
|
| Hydrocephalus, Congenital, 1 |
|
Hydrocephaly
|
Ventriculomegaly
|
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1
|
HYC1
|
|
Congenital Non-Communicating Hydrocephalus
|
Hydrocephalus, Nonsyndromic, Autosomal Recessive 1, Formerly
|
|
Congenital Obstructive Hydrocephalus
|
Hydrocephalus, Non-Syndromic, Autosomal Recessive 1
|
|
Hydrocephalus
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 5 |
|
Mdc1c
|
Muscular Dystrophy-Dystroglycanopathy Type B5
|
|
MDDGB5
|
Muscular Dystrophy, Congenital, 1c
|
|
Muscular Dystrophy, Congenital, Fkrp-Related
|
Congenital Muscular Dystrophy 1c
|
|
Fkrp-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
|
|
Muscular Dystrophy Congenital Type 1c
|
Muscular Dystrophy Fkrp-Related
|
|
|
| Muscular Dystrophy |
|
Muscular Dystrophies
|
Congenital Md
|
|
Congenital Muscular Dystrophy
|
Cmd
|
|
Mdc
|
Dystrophy, Muscular
|
|
Gower'S Muscular Dystrophy
|
Progressive Musclular Dystrophy
|
|
Pseudohypertrophic Atrophy
|
Pseudohypertrophic Muscle Paralysis
|
|
Pseudohypertrophic Muscular Atrophy
|
Pseudohypertrophic Muscular Dystrophy
|
|
Pseudohypertrophic Paralysis
|
Pseudomuscular Hypertrophy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type A, 4 |
|
Fukuyama Congenital Muscular Dystrophy
|
Fcmd
|
|
MDDGA4
|
Fukuyama Type Congenital Muscular Dystrophy
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related
|
Cerebromuscular Dystrophy, Fukuyama Type
|
|
Fukuyama Cmd
|
Fukuyama Muscular Dystrophy
|
|
Fukuyama Syndrome
|
Muscular Dystrophy, Congenital Progressive, With Mental Retardation
|
|
Muscular Dystrophy, Congenital, Fukuyama Type
|
Muscular Dystrophy, Congenital, With Central Nervous System Involvement
|
|
Polymicrogyria With Muscular Dystrophy
|
Congenital Muscular Dystrophy, Fukuyama Type
|
|
Fktn-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
|
|
Cerebromuscular Dystrophy Fukuyama Type
|
Congenital Muscular Dystrophy Fukuyama Type
|
|
Micropolygyria With Muscular Dystrophy
|
Muscle-Eye-Brain Disease Fktn-Related
|
|
Walker-Warburg Syndrome Fktn-Related
|
|
|
| Limb-Girdle Muscular Dystrophy |
|
Lgmd
|
Limb Girdle Muscular Dystrophy
|
|
Muscular Dystrophies, Limb-Girdle
|
Erb'S Muscular Dystrophy
|
|
Leyden-Mbius Muscular Dystrophy
|
Limb-Girdle Syndrome
|
|
Myopathic Limb-Girdle Syndrome
|
Limb Girdle
|
|
Muscular Dystrophy Limb-Girdle
|
Dystrophy, Muscular, Limb-Girdle
|
|
Lgmd - [Limb-Girdle Muscular Dystrophy]
|
Limb Girdle Muscle Dystrophy
|
|
Limb-Girdle Myopathy
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A1 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1
|
Mddga1
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
|
|
|
| Muscular Dystrophy-Dystroglycanopathy |
|
Cmd Due To Dystroglycanopathy
|
Congenital Muscular Dystrophy Due To Dystroglycanopathy
|
|
Mddg
|
Dystrophy, Muscular, Dystroglycanopathy
|
|
|
| Ablepharon-Macrostomia Syndrome |
|
Ablepharon Macrostomia Syndrome
|
AMS
|
|
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies
|
Eye Abnormalities
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 2 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
|
Lgmd2n
|
|
MDDGC2
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
|
|
Lgmdr14
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
|
|
Limb-Girdle Muscular Dystrophy Type 2n
|
Muscular Dystrophy, Limb-Girdle, Type 2n
|
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related
|
Muscular Dystrophy-Dystroglycanopathy Type C 2
|
|
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
|
Lgmd Type 2n
|
|
Pomt2-Related Lgmd R14
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
|
|
Mdgd2c
|
Dystrophy, Muscular, Limb-Girdle, Type 2n
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A2 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A2
|
Mddga2
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt2-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A2
|
|
|
| Muscular Dystrophy, Congenital, Lmna-Related |
|
Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Due To Lmna Mutation
|
|
MDCL
|
L-Cmd
|
|
Lmna-Related Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital
|
|
Congenital Muscular Dystrophy Lmna-Related
|
Lmna-Related Cmd
|
|
Cmd
|
Mdc
|
|
Muscular Dystrophy Congenital Lmna-Related
|
Dystrophy, Muscular, Congenital, Lmna-Related
|
|
Dystrophy, Muscular, Congenital
|
Hereditary Muscular Dystrophy
|
|
Congenital Hereditary Muscular Dystrophy
|
Congenital Progressive Muscular Dystrophy
|
|
Hereditary Progressive Muscular Dystrophy
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type B, 6 |
|
Muscular Dystrophy-Dystroglycanopathy Type B6
|
MDDGB6
|
|
Mdc1d
|
Muscular Dystrophy, Congenital, Type 1d
|
|
Congenital Muscular Dystrophy Type 1d
|
Dystrophy, Muscular, Dystroglycanopathy , Type B6
|
|
Muscular Dystrophy, Congenital, Large-Related
|
Congenital Muscular Dystrophy Large-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6
|
Muscular Dystrophy Large-Related
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A12 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A12
|
Mddga12
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Pomk-Related
|
|
|
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Lgmd2b
|
Muscular Dystrophy, Limb-Girdle, Type 2b
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e
|
Beta-Sarcoglycanopathy
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y
|
Muscular Dystrophy, Limb-Girdle, Type 3
|
|
Lgmd3
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
|
|
LGMDR2
|
Muscular Dystrophy, Limb-Girdle, Type 2s
|
|
Limb-Girdle Muscular Dystrophy Type 2b
|
Lgmd2e
|
|
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency
|
Muscular Dystrophy, Limb-Girdle, Type 2e
|
|
Lgmd2s
|
Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
|
|
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency
|
Lgmd2y
|
|
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine
|
Muscular Dystrophy, Limb-Girdle, Type 2y
|
|
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
|
|
Dysferlin-Related Lgmd R2
|
Lgmd Due To Dysferlin Deficiency
|
|
Lgmd Type 2b
|
Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
|
|
Limb-Girdle Muscular Dystrophy 2b
|
Limb-Girdle Muscular Dystrophy, Type 2b
|
|
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2
|
Dystrophy, Muscular, Limb-Girdle, Type 2b
|
|
Limb-Girdle Muscular Dystrophy, Type 2e
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A3 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3
|
Mddga3
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A |
|
Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies
|
Mddga
|
|
Klissencephaly Type 2 With Muscular And Ocular Involvement
|
Lissencephaly Type 2 With Muscular And Ocular Involvement
|
|
|
| Cardiomyopathy, Dilated, 1d |
|
Dilated Cardiomyopathy 1d
|
CMD1D
|
|
Left Ventricular Noncompaction 6, Included
|
Lvnc6, Included
|
|
Left Ventricular Noncompaction 6
|
Cardiomyopathy, Dilated 1d
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 3 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o
|
MDDGC3
|
|
Lgmd2o
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
|
|
Lgmdr15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
|
|
Muscular Dystrophy, Limb-Girdle, Type 2o
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
|
|
Muscular Dystrophy-Dystroglycanopathy Type C3
|
Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
|
|
Lgmd Type 2o
|
Limb-Girdle Muscular Dystrophy Type 2o
|
|
Pomgnt1-Related Lgmd R15
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
|
|
Dystrophy, Muscular, Limb-Girdle, Type 2o
|
|
|
| Cobblestone Lissencephaly |
|
Lissencephaly Type 2
|
Lissencephaly, Cobblestone
|
|
|
| Retinitis Pigmentosa 86 |
|
RP86
|
Retinitis Pigmentosa, Type 86
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 4 |
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m
|
Lgmd2m
|
|
MDDGC4
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
|
|
Lgmdr13
|
Muscular Dystrophy, Limb-Girdle, Type 2m
|
|
Muscular Dystrophy-Dystroglycanopathy Type C 4
|
Fukutin-Related Limb-Girdle Muscular Dystrophy R13
|
|
Autosomal Recessive Lgmd Type 2m
|
Fukutin-Related Lgmd R13
|
|
Lgmd Type 2m
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
|
|
Limb-Girdle Muscular Dystrophy Type 2m
|
Mdgd4c
|
|
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c
|
Dystrophy, Muscular, Limb-Girdle, Type 2m
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
|
Lgmd2l
|
Muscular Dystrophy, Limb-Girdle, Type 2l
|
|
|
| Congenital Muscular Dystrophy-Dystroglycanopathy Type A5 |
|
Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5
|
Mddga5
|
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related
|
|
|
| Hydrophthalmos |
|
|
| Lissencephaly |
|
Pachygyria
|
Broad Gyri Of Cerebrum
|
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
| Muscular Dystrophy-Dystroglycanopathy , Type C, 5 |
|
Lgmd2i
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
|
|
MDDGC5
|
Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
|
|
Limb-Girdle Muscular Dystrophy Type 2i
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
|
|
Lgmdr9
|
Muscular Dystrophy, Limb-Girdle, Type 2i
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related
|
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
|
|
Fkrp-Related Lgmd R9
|
Lgmd Due To Fkrp Deficiency
|
|
Lgmd Type 2i
|
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
|
|
Muscular Dystrophy Limb-Girdle Type 2i
|
Muscular Dystrophy-Dystroglycanopathy Type C 5
|
|
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5
|
Dystrophy, Muscular, Limb-Girdle, Type 2i
|
|
|
| Muscular Dystrophy, Congenital Merosin-Deficient, 1a |
|
MDC1A
|
Lama2-Related Muscular Dystrophy
|
|
Atrophie Blanche
|
Muscular Dystrophy, Congenital Merosin-Deficient
|
|
Congenital Merosin-Deficient Muscular Dystrophy 1a
|
Merosin-Negative Congenital Muscular Dystrophy
|
|
Muscular Dystrophy White Matter Spongiosis
|
Merosin Deficient Congenital Muscular Dystrophy
|
|
Muscular Dystrophy Congenital, Merosin Negative
|
Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
|
|
Cmd1a
|
Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
|
|
Congenital Muscular Dystrophy Type 1a
|
Laminin Alpha-2 Deficiency
|
|
Merosin-Deficient Congenital Muscular Dystrophy
|
Muscular Dystrophy, Congenital, Merosin-Deficient
|
|
Lama2 Md
|
Laminin Alpha 2 Deficiency
|
|
Laminin Alpha-2 Deficient Muscular Dystrophy
|
Merosin-Deficient Muscular Dystrophy
|
|
Muscular Dystrophy Due To Lama2 Deficiency
|
Merosin-Deficient Congenital Muscular Dystrophy 1a
|
|
Cardiomyopathy, Familial Idiopathic
|
|
|
| Cardiomyopathy, Dilated, 1g |
|
Dilated Cardiomyopathy 1g
|
CMD1G
|
|
Cardiomyopathy, Dilated 1g
|
Cardiomyopathy, Dilated, Type 1g
|
|
|
| Glaucoma 3, Primary Congenital, A |
|
Buphthalmos
|
Glaucoma, Congenital
|
|
Congenital Glaucoma
|
Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
|
|
GLC3A
|
Glc3
|
|
Buphthalmia
|
Primary Congenital Glaucoma
|
|
Glaucoma, Primary Open Angle, Juvenile-Onset
|
Simple Buphthalmos
|
|
Buphthalmus
|
Glaucoma, Primary Open Angle, Adult-Onset
|
|
Primary Congenital Glaucoma 3a
|
Primary Infantile Glaucoma Type 3a
|
|
Glaucoma 3a, Primary Congenital
|
Glaucoma, Congenital, Primary, Type 3a
|
|
Hydrophthalmos
|
Cystic Eyeball
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j |
|
Lgmd2j
|
Muscular Dystrophy, Limb-Girdle, Type 2j
|
|
|
| Peters-Plus Syndrome |
|
Krause-Kivlin Syndrome
|
Peters Plus Syndrome
|
|
Peters Anomaly
|
Irido-Corneo-Trabecular Dysgenesis
|
|
PTRPLS
|
Peters Anomaly With Short-Limb Dwarfism
|
|
Peters Anomaly-Short Limb Dwarfism Syndrome
|
Peters Anomaly With Short Limb Dwarfism
|
|
Peters Congenital Glaucoma
|
Krause-Van Schooneveld-Kivlin Syndrome
|
|
Peters' Plus Syndrome
|
Peters'-Plus Syndrome
|
|
Anomaly Peters
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
EDMD1
|
Emd1
|
|
Muscular Dystrophy, Tardive, Dreifuss-Emery Type, With Contractures
|
X-Linked Emery-Dreifuss Muscular Dystrophy 1
|
|
Humeroperoneal Neuromuscular Disease
|
X-Linked Emery-Dreifuss Muscular Dystrophy
|
|
Scapuloperoneal Syndrome, X-Linked, Formerly
|
Humeroperoneal Neuromuscular Disease, Formerly
|
|
Scapuloperoneal Syndrome, X-Linked
|
Muscular Dystrophy Tardive Dreifuss-Emery Type With Contractures
|
|
Scapuloperoneal Syndrome X-Linked
|
X-Edmd
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 1, X-Linked
|
|
|
| Rigid Spine Muscular Dystrophy 1 |
|
Rigid Spine Syndrome
|
RSMD1
|
|
Rss
|
Mdrs1
|
|
Eichsfeld Type Congenital Muscular Dystrophy
|
Desmin-Related Myopathy With Mallory Bodies
|
|
Classic Multiminicore Myopathy
|
Sepn1-Related Myopathy
|
|
Multicore Myopathy, Severe Classic Form
|
Minicore Myopathy, Severe Classic Form
|
|
Multiminicore Disease, Severe Classic Form
|
Muscular Dystrophy, Rigid Spine, 1
|
|
Classic Mmd
|
Classic Multiminicore Disease
|
|
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity
|
Desmin-Related Myopathy With Mallory Body-Like Inclusions
|
|
Early-Onset Desmin-Related Myopathy
|
Myopathy, Sepn1-Related
|
|
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
|
Muscular Dystrophy, Congenital, Eichsfeld Type
|
|
Severe Classic Form Minicore Myopathy
|
Severe Classic Form Multicore Myopathy
|
|
Severe Classic Form Multiminicore Disease
|
Desmin-Related Myopathies With Mallory Bodies
|
|
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
|
Rigid Spine Muscular Dystrophy-1
|
|
Rigid Spine Congenital Muscular Dystrophy
|
Congenital Muscular Dystrophy Eichsfeld Type
|
|
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
|
Minicore Myopathy Severe Classic Form
|
|
Multicore Myopathy Severe Classic Form
|
Multiminicore Disease Severe Classic Form
|
|
Dystrophy, Muscular, Rigid Spine, Type 1
|
|
|
| Epidermolysis Bullosa Simplex 2f, With Mottled Pigmentation |
|
Epidermolysis Bullosa Simplex With Mottled Pigmentation
|
Ebsmp
|
|
Speckled Hyperpigmentation With Punctate Palmoplantar Keratoses And Childhood Blistering
|
Ebs-Mp
|
|
EBS2F
|
Ebs With Mottled Pigmentation
|
|
Epidermolysis Bullosa Simplex-Mp
|
Speckled Hyperpigmentation, Palmo-Plantar Punctate Keratoses And Childhood Blistering
|
|
Epidermolysis Bullosa Simplex, With Mottled Pigmentation
|
|
|
| Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant |
|
EDMD4
|
Emery-Dreifuss Muscular Dystrophy 4 With Variable Features
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 4
|
Emd4
|
|
Dystrophy, Muscular, Emery-Dreifuss, Type 4, Autosomal Dominant
|
Emery-Dreifuss Muscular Dystrophy 4
|
|
|
| Bethlem Myopathy 1 |
|
Bethlem Myopathy
|
Myopathy, Benign Congenital, With Contractures
|
|
Muscular Dystrophy, Benign Congenital
|
BTHLM1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5
|
Lgmdd5
|
|
Benign Congenital Muscular Dystrophy
|
Benign Autosomal Dominant Myopathy
|
|
Myopathy, Bethlem
|
Myopathy, Bethlem, Type 1
|
|
|
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
EDMD2
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
|
|
Emd2
|
Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
|
|
Scapuloilioperoneal Atrophy With Cardiopathy
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy, Autosomal Dominant
|
|
Hauptmann-Thannhauser Muscular Dystrophy
|
Cardiomyopathy, Dilated, With Quadriceps Myopathy
|
|
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy 2
|
Muscular Dystrophy, Limb-Girdle, Type 1b
|
|
Muscular Dystrophy, Limb-Girdle, Type 1b, Formerly
|
Lgmd1b, Formerly
|
|
Muscular Dystrophy, Proximal, Type 1b, Formerly
|
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
|
|
Lgmd1b
|
Limb-Girdle Muscular Dystrophy 1b
|
|
Muscular Dystrophy, Proximal, Type 1b
|
Muscular Dystrophy With Early Contractures And Cardiomyopathy Autosomal Dominant
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| 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
|
|
|
| Muscle Tissue Disease |
|
|
| Physical Disorder |
|
|
| Muscular Disease |
|
|
| Isolated Elevated Serum Creatine Phosphokinase Levels |
|
Elevated Serum Cpk
|
Idiopathic Hyperckemia
|
|
Isolated Hyperckemia
|
Elevated Serum Creatine Phosphokinase
|
|
H-Ck
|
Idiopathic Persistent Elevation Of Serum Creatine Kinase
|
|
|
| Polymicrogyria |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric Septal Hypertrophy
|
Familial Hypertrophic Cardiomyopathy
|
|
Hypertrophic Cardiomyopathy 1
|
CMH1
|
|
Hypertrophic Cardiomyopathy 19
|
CMH
|
|
Ventricular Hypertrophy, Hereditary
|
Ash
|
|
Hypertrophic Subaortic Stenosis, Idiopathic
|
Cardiomyopathy, Familial Hypertrophic
|
|
Cardiomyopathy, Hypertrophic, 1, Digenic
|
Cardiomyopathy, Familial Hypertrophic 1
|
|
Hcm
|
Hereditary Ventricular Hypertrophy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Hypertrophic Cardiomyopathy
|
|
Cardiomyopathy, Hypertrophic, Familial
|
Cardiomyopathy, Hypertrophic, 1
|
|
Familial Asymmetric Septal Hypertrophy
|
Heritable Hypertrophic Cardiomyopathy
|
|
Fhc
|
Cardiomyopathy, Hypertrophic, Familial, Type 1
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Ullrich Congenital Muscular Dystrophy 1 |
|
Ullrich Congenital Muscular Dystrophy
|
Ullrich Disease
|
|
Ucmd
|
Ullrich Scleroatonic Muscular Dystrophy
|
|
Scleroatonic Muscular Dystrophy
|
UCMD1
|
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22
|
Lgmdr22
|
|
Muscular Dystrophy, Scleroatonic
|
Late Onset Scleroatonic Familial Myopathy
|
|
Congenital Muscular Dystrophy, Ullrich Type
|
|
|
| Pontocerebellar Hypoplasia |
|
Pch
|
Congenital Pontocerebellar Hypoplasia
|
|
Opch
|
Hypoplasia, Pontocerebellar
|
|
Pontoneocerebellar Hypoplasia
|
Nonsyndromic Pontocerebellar Hypoplasia
|
|
|
| Congenital Myasthenic Syndrome |
|
Congenital Myasthenia
|
Congenital Myasthenic Syndromes
|
|
Cms
|
Myasthenic Syndromes, Congenital
|
|
Myasthenic Syndromes Congenital
|
Myasthenic Syndrome, Congenital
|
|
Congenital Myasthenic Syndrome Ib
|
Congenital And Developmental Myasthenia
|
|
Developmental Myasthenia
|
|
|
| Congenital Disorder Of Glycosylation, Type In |
|
Congenital Disorder Of Glycosylation
|
CDG1N
|
|
Congenital Disorders Of Glycosylation
|
Cdg In
|
|
Cdgin
|
Congenital Disorder Of Glycosylation 1n
|
|
Carbohydrate-Deficient Glycoprotein Syndrome
|
Cdg
|
|
Rft1-Cdg
|
Cdg-In
|
|
Congenital Disorder Of Glycosylation Type In
|
Carbohydrate Deficient Glycoprotein Syndrome
|
|
Cdg Syndrome
|
Congenital Disorder Of Glycosylation In
|
|
Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
|
|
Carbohydrate Deficient Glycoprotein Syndrome Type In
|
Congenital Disorder Of Glycosylation Type 1n
|
|
Man5glcnac2-Pp-Dol Flippase Deficiency
|
Glycosylation, Congenital Disorder Of
|
|
Glycosylation, Congenital Disorder Of, Type In
|
|
|
