Diseases |
Alias |
|
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
|
|
|
Retinitis Pigmentosa 76 |
RP76
|
Retinitis Pigmentosa, Type 76
|
|
|
Muscular Dystrophy-Dystroglycanopathy , Type B, 3 |
MDDGB3
|
Muscular Dystrophy-Dystroglycanopathy , Type B3
|
Muscular Dystrophy, Congenital, Pomgnt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Type B3
|
Congenital Muscular Dystrophy Pomgnt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B3
|
Muscular Dystrophy Congenital Pomgnt1-Related
|
Dystrophy, Muscular, Dystroglycanopathy , Type B3
|
|
|
Muscular Dystrophy-Dystroglycanopathy , Type A, 3 |
MDDGA3
|
Muscular Dystrophy-Dystroglycanopathy , Type A3
|
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related
|
Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
|
Muscle-Eye-Brain Disease Pomgnt1-Related
|
Walker-Warburg Syndrome Pomgnt1-Related
|
Dystrophy, Muscular, Dystroglycanopathy , Type A3
|
|
|
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-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
|
|
|
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 |
Cmd Due To Dystroglycanopathy
|
Congenital Muscular Dystrophy Due To Dystroglycanopathy
|
Mddg
|
Dystrophy, Muscular, Dystroglycanopathy
|
|
|
Congenital Muscular Dystrophy With Cerebellar Involvement |
Cmd With Cerebellar Involvement
|
Cmd-Crb
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Laryngomalacia |
Congenital Laryngomalacia
|
Congenital Laryngeal Stridor
|
Laryngomalacia Congenital
|
Floppy Epiglottis
|
|
|
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
|
|
|
Retinitis Pigmentosa 72 |
RP72
|
Retinitis Pigmentosa, Type 72
|
|
|
Ablepharon-Macrostomia Syndrome |
Ablepharon Macrostomia Syndrome
|
AMS
|
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies
|
Eye Abnormalities
|
|
|
Cobblestone Lissencephaly |
Lissencephaly Type 2
|
Lissencephaly, Cobblestone
|
|
|
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
|
|
|
Hydrocephalus |
Hydrocephalus, Nonsyndromic, Autosomal Recessive
|
Hydrocephalus, X-Linked
|
Hydrocephalus Adverse Event
|
Hydrocephaly Nos
|
|
|
Retinitis Pigmentosa 68 |
RP68
|
Retinitis Pigmentosa, Type 68
|
|
|
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 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 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
|
|
|
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
|
|
|
Cardiomyopathy, Dilated, 1d |
Dilated Cardiomyopathy 1d
|
CMD1D
|
Left Ventricular Noncompaction 6, Included
|
Lvnc6, Included
|
Left Ventricular Noncompaction 6
|
Cardiomyopathy, Dilated 1d
|
|
|
Retinitis Pigmentosa 69 |
RP69
|
Retinitis Pigmentosa, Type 69
|
|
|
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
|
|
|
Bilateral Frontal Polymicrogyria |
|
|
Lissencephaly |
Pachygyria
|
Broad Gyri Of Cerebrum
|
Large Gyri Of Cerebrum
|
Macrogyria
|
|
|
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, 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
|
|
|
Retinitis Pigmentosa 83 |
RP83
|
Retinitis Pigmentosa, Type 83
|
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l |
Lgmd2l
|
Muscular Dystrophy, Limb-Girdle, Type 2l
|
|
|
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
|
|
|
Myopathy, Distal, 4 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
|
MPD4
|
Williams Distal Myopathy
|
Distal Muscular Dystrophy 4
|
Distal Abd-Filaminopathy
|
Distal Myopathy 4
|
Myopathy, Distal, Type 4
|
|
|
Myopia |
Near-Sightedness
|
Short-Sightedness
|
Nearsightedness
|
Nearsighted
|
Near Vision
|
Close Sighted
|
Myopic
|
Short-Sighted
|
Near Sighted
|
|
|
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
|
|
|
Retinitis Pigmentosa 25 |
RP25
|
Retinitis Pigmentosa-25
|
Retinitis Pigmentosa, Type 25
|
|
|
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
|
|
|
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
|
|
|
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
|
|
|
Periventricular Nodular Heterotopia |
Periventricular Heterotopia
|
Pvnh
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
Periventricular Heterotopia, X-Linked
|
|
|
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
|
|
|
Osteogenesis Imperfecta, Type Ii |
Vrolik Type Of Osteogenesis Imperfecta
|
Osteogenesis Imperfecta Type 2
|
OI2
|
Oi, Type Ii
|
Osteogenesis Imperfecta Congenita
|
Oic
|
Osteogenesis Imperfecta Type Ii
|
Lethal Osteogenesis Imperfecta
|
Oi Type 2
|
Osteogenesis Imperfecta Congenita Perinatal Lethal Form
|
Osteogenesis Imperfecta Congenita, Perinatal Lethal Form
|
Perinatal Lethal Osteogenesis Imperfecta Congenita
|
Perinatally Lethal Oi
|
Osteogenesis Imperfecta 2
|
Oi-Ii
|
Oi-Iia
|
Oi Type Iia
|
Osteogenesis Imperfecta Type Iia
|
Osteogenesis Imperfecta Type Ii Autosomal Dominant
|
Oi Type Ii
|
Osteogenesis Imperfecta, Dominant Perinatal Lethal
|
|
|
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
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Myopathy, Sepn1-Related
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Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity
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Muscular Dystrophy, Congenital, Eichsfeld Type
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Severe Classic Form Minicore Myopathy
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Severe Classic Form Multicore Myopathy
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Severe Classic Form Multiminicore Disease
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Desmin-Related Myopathies With Mallory Bodies
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Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity
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Rigid Spine Muscular Dystrophy-1
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Rigid Spine Congenital Muscular Dystrophy
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Congenital Muscular Dystrophy Eichsfeld Type
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Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity
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Minicore Myopathy Severe Classic Form
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Multicore Myopathy Severe Classic Form
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Multiminicore Disease Severe Classic Form
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Dystrophy, Muscular, Rigid Spine, Type 1
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Muscle Tissue Disease |
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Physical Disorder |
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Polymicrogyria |
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Pontocerebellar Hypoplasia |
Pch
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Congenital Pontocerebellar Hypoplasia
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Opch
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Hypoplasia, Pontocerebellar
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Pontoneocerebellar Hypoplasia
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Nonsyndromic Pontocerebellar Hypoplasia
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Microcephaly |
Microencephaly
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Microcephalus
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Microcephalic
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Nanocephaly
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Congenital Microcephaly
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Brain Hypoplasia
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Brain Nondevelopment
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Cephalic Hypoplasia
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Undeveloped Cerebrum
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Undeveloped Brain
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Micrencephalon
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Micrencephaly
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Congenital Disorder Of Glycosylation, Type In |
Congenital Disorder Of Glycosylation
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CDG1N
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Congenital Disorders Of Glycosylation
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Cdg In
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Cdgin
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Congenital Disorder Of Glycosylation 1n
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Carbohydrate-Deficient Glycoprotein Syndrome
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Cdg
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Rft1-Cdg
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Cdg-In
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Congenital Disorder Of Glycosylation Type In
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Carbohydrate Deficient Glycoprotein Syndrome
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Cdg Syndrome
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Congenital Disorder Of Glycosylation In
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Carbohydrate-Deficient Glycoprotein Syndromes
|
Cdg Syndrome Type In
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Carbohydrate Deficient Glycoprotein Syndrome Type In
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Congenital Disorder Of Glycosylation Type 1n
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Man5glcnac2-Pp-Dol Flippase Deficiency
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Glycosylation, Congenital Disorder Of
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Glycosylation, Congenital Disorder Of, Type In
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Autism |
Autistic Disorder
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Autism Susceptibility 1
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Childhood Autism
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Kanner'S Syndrome
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Autistic
|
|
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Congenital Myasthenic Syndrome |
Congenital Myasthenia
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Congenital Myasthenic Syndromes
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Cms
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Myasthenic Syndromes, Congenital
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Myasthenic Syndromes Congenital
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Myasthenic Syndrome, Congenital
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Congenital Myasthenic Syndrome Ib
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Congenital And Developmental Myasthenia
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Developmental Myasthenia
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Myopathy |
Muscular Diseases
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Myopathies
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