| Diseases |
Alias |
|
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
GAN2
|
Hmsn2 With Neurofilament Accumulations And Infrequent Giant Axons
|
|
Neuropathy, Axonal, Giant, Type 2,, Autosomal Dominant
|
|
|
| Giant Axonal Neuropathy 2 |
|
|
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 With Giant Axons |
|
Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2 With Giant Axons
|
Cmt2 With Giant Axons
|
|
Hmsn2 With Giant Axons
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 101 |
|
Mrx101
|
X-Linked Mental Retardation 101
|
|
|
| Non-Syndromic X-Linked Intellectual Disability 103 |
|
Mrx103
|
X-Linked Mental Retardation 103
|
|
|
| Cerebellar Ataxia Type 48 |
|
|
| Syndromic X-Linked Intellectual Disability Cabezas Type |
|
Cabezas Syndrome
|
Syndromic X-Linked Mental Retardation 15
|
|
Mental Retardation, X-Linked, Syndromic 15
|
Mrss
|
|
Mrxs15
|
Mrxsc
|
|
X-Linked Mental Retardation With Short Stature
|
X-Linked Mental Retardation With Short Stature, Hypogonadism, And Abnormal Gait
|
|
Mental Retardation, X-Linked, With Short Stature
|
Mental Retardation, X-Linked, With Short Stature, Hypogonadism, And Abnormal Gait
|
|
|
| Plexopathy |
|
|
| Brachial Plexus Lesion |
|
Brachial Plexus Injuries
|
Brachial Plexus Lesions
|
|
|
| Median Neuropathy |
|
|
| Myopathy, Myofibrillar, 6 |
|
Myofibrillar Myopathy 6
|
MFM6
|
|
Myopathy, Myofibrillar, Bag3-Related
|
Bag3-Related Myofibrillar Myopathy
|
|
Muscular Dystrophy, Selcen Type
|
Mfm Bag3-Related
|
|
Muscular Dystrophy Selcen Type
|
Myopathy Myofibrillar Bag3-Related
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
HMN2D
|
Hmn Iid
|
|
Dhmn2d
|
Distal Hereditary Motor Neuronopathy Type 2d
|
|
Distal Hereditary Motor Neuropathy Type Iid
|
Neuronopathy, Distal Hereditary Motor, Type 2d
|
|
Neuropathy, Distal Hereditary Motor, Type Iid
|
Spinal Muscular Atrophy, Distal, Autosomal Dominant, Calf-Predominant
|
|
Distal Spinal Muscular Atrophy With Calf Predominance
|
Neuronopathy, Distal Hereditary Motor, 2d
|
|
Autosomal Dominant Spinal Muscular Atrophy Distal Calf-Predominant
|
Dhmn Iid
|
|
Neuropathy, Motor, Distal, Hereditary, Type 2d
|
|
|
| Motor Peripheral Neuropathy |
|
Motor Neuritis
|
Peripheral Motor Neuropathy
|
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Syndromic X-Linked Intellectual Disability Turner Type |
|
Mental Retardation, X-Linked Syndromic, Turner Type
|
Intellectual Disability, X-Linked Syndromic, Turner Type
|
|
Brooks-Wisniewski-Brown Syndrome
|
Mental Retardation And Macrocephaly Syndrome
|
|
Mrxst
|
X-Linked Intellectual Disability, Brooks Type
|
|
Mental Retardation, X-Linked, Syndromic, Turner Type
|
|
|
| Ataxia, Sensory, 1, Autosomal Dominant |
|
Autosomal Dominant Sensory Ataxia 1
|
SNAX1
|
|
Adsa
|
Ataxia, Sensory, Type 1, Autosomal Dominant
|
|
Ataxia, Sensory, Autosomal Dominant
|
|
|
| Intraneural Perineurioma |
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2r |
|
Charcot-Marie-Tooth Disease Type 2r
|
CMT2R
|
|
Charcot-Marie-Tooth Neuropathy, Type 2r
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r
|
|
Charcot-Marie-Tooth Disease, Type 2r
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r
|
|
Charcot-Marie-Tooth Neuropathy Type 2r
|
Charcot-Marie-Tooth Disease 2r
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r
|
Charcot-Marie-Tooth Disease Axonal Type 2r
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2r
|
|
|
| Retinitis Pigmentosa 31 |
|
RP31
|
Retinitis Pigmentosa-31
|
|
Retinitis Pigmentosa, Type 31
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2p |
|
CMT2P
|
Charcot-Marie-Tooth Disease Axonal Type 2p
|
|
Charcot-Marie-Tooth Disease Type 2p
|
Charcot-Marie-Tooth Neuropathy, Type 2p
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly
|
Cmt2g, Formerly
|
|
Charcot-Marie-Tooth Neuropathy Type 2p
|
Charcot-Marie-Toothe Disease, Axonal, Type 2p
|
|
Charcot-Marie-Tooth Disease 2p
|
Charcot-Marie-Tooth Disease, Axonal Type 2g
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2p
|
Cmt2g
|
|
Charcot-Marie-Tooth Disease, Type 2p
|
Charcot-Marie-Tooth Disease, Axonal, Type 2g
|
|
|
| Kaufman Oculocerebrofacial Syndrome |
|
KOS
|
Blepharophimosis-Ptosis-Intellectual Disability Syndrome
|
|
Oculocerebrofacial Syndrome, Kaufman Type
|
Bpids
|
|
Blepharophimosis Ptosis Intellectual Disability Syndrome
|
Blepharophimosis-Ptosis-Intellectual Disability Syndrome
|
|
Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet
|
Bpid Syndrome
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2l |
|
Charcot-Marie-Tooth Disease Axonal Type 2l
|
CMT2L
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l
|
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2l
|
Charcot-Marie-Tooth Disease 2l
|
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l
|
Charcot-Marie-Tooth Disease Neuronal Type 2l
|
|
Charcot-Marie-Tooth Neuropathy Type 2l
|
Charcot-Marie-Tooth Disease, Type 2l
|
|
Charcot-Marie-Tooth Disease, Type 2i
|
|
|
| Charcot-Marie-Tooth Disease, Type 4h |
|
Charcot-Marie-Tooth Disease Type 4h
|
CMT4H
|
|
Charcot-Marie-Tooth Neuropathy Type 4h
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h
|
Charcot-Marie-Tooth Neuropathy, Type 4h
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h
|
|
Charcot-Marie-Tooth Disease 4h
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2f |
|
Charcot-Marie-Tooth Disease Axonal Type 2f
|
CMT2F
|
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2f
|
Charcot-Marie-Tooth Neuropathy, Type 2f
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f
|
Charcot-Marie-Tooth Neuropathy Type 2f
|
|
Charcot-Marie-Tooth Neuronal Type 2f
|
Charcot-Marie-Tooth Disease Type 2f
|
|
Cmt 2f
|
Charcot Marie Tooth Disease Type 2f
|
|
Charcot-Marie-Tooth Disease 2f
|
Charcot-Marie-Tooth Disease Neuronal Type 2f
|
|
Charcot-Marie-Tooth Disease, Type 2f
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2cc |
|
Charcot-Marie-Tooth Disease Axonal Type 2cc
|
CMT2CC
|
|
Charcot-Marie-Tooth Neuropathy, Type 2cc
|
Charcot-Marie-Tooth Neuropathy Type 2cc
|
|
Charcot-Marie-Tooth Disease 2cc
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g |
|
Lgmd2g
|
Limb-Girdle Muscular Dystrophy Due To Telethonin Deficiency
|
|
Muscular Dystrophy, Limb-Girdle, Type 2g
|
|
|
| Alzheimer Disease 8 |
|
Ad8
|
Alzheimer'S Disease 8
|
|
Alzheimer Disease, Familial, 8
|
Alzheimer Disease, Familial 8
|
|
Alzheimer'S Disease 8, Late Onset
|
|
|
| Woodhouse-Sakati Syndrome |
|
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome
|
Woodhouse Sakati Syndrome
|
|
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome
|
WDSKS
|
|
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia
|
Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
|
|
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia
|
Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
|
|
Neuroectodermal Endocrine Syndrome
|
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
|
|
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome
|
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
|
|
Wss
|
|
|
| Meckel Syndrome, Type 2 |
|
MKS2
|
Meckel Syndrome 2
|
|
Meckel-Gruber Syndrome, Type 2
|
Meckel Syndrome Type 2
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h |
|
Lgmd2h
|
Limb-Girdle Muscular Dystrophy Due To Trim32 Deficiency
|
|
Muscular Dystrophy Hutterite Type
|
Sarcotubular Myopathy
|
|
Limb-Girdle Muscular Dystrophy Type 2h
|
|
|
| Gordon Holmes Syndrome |
|
Cerebellar Ataxia And Hypogonadotropic Hypogonadism
|
Lhrh Deficiency And Ataxia
|
|
Cerebellar Ataxia-Hypogonadism Syndrome
|
GDHS
|
|
Cahh
|
Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
|
|
Gordon-Holmes Syndrome
|
Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
|
|
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia
|
Cerebellar Ataxia - Hypogonadism
|
|
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia
|
Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
|
|
|
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1f |
|
Charcot-Marie-Tooth Disease Type 1f
|
CMT1F
|
|
Charcot-Marie-Tooth Disease, Type 1f
|
Charcot-Marie-Tooth Neuropathy Type 1f
|
|
Charcot-Marie-Tooth Neuropathy, Type 1f
|
Charcot-Marie-Tooth Disease Type 2b5
|
|
Ar-Cmt2b5
|
Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5
|
|
Seoan Due To Nefl Deficiency
|
Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency
|
|
Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency
|
Charcot-Marie-Tooth Disease 1f
|
|
Charcot-Marie-Tooth Disease Demyelinating Type 1f
|
Charcot-Marie-Tooth Disease, Type If
|
|
|
| Myopathy, Congenital, Bailey-Bloch |
|
Native American Myopathy
|
Nam
|
|
MYPBB
|
Myopathy, Congenital, Baily-Bloch
|
|
Anti-Hmg-Coa Myopathy
|
Anti-Srp Myopathy
|
|
Autoimmune Necrotizing Myositis
|
Imnm
|
|
Immune Myopathy With Myocyte Necrosis
|
Immune-Mediated Necrotizing Myopathy
|
|
Myopathy, Congenital, With Myopathic Facies, Scoliosis, And Malignant Hyperthermia
|
Necrotizing Autoimmune Myopathy
|
|
Congenital Myopathy-Cleft Palate-Malignant Hyperthermia Syndrome
|
Congenital Myopathy With Cleft Palate And Malignant Hyperthermia
|
|
|
| Lissencephaly, X-Linked, 1 |
|
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
|
Xlis
|
|
Lissencephaly, X-Linked
|
LISX1
|
|
Lissencephaly And Agenesis Of Corpus Callosum
|
Subcortical Laminal Heterotopia, X-Linked
|
|
X-Linked Lissencephaly 1
|
X-Linked Lissencephaly
|
|
Double Cortex
|
Xlis1
|
|
Lissencephaly X-Linked
|
Lisx
|
|
X-Linked Lissencephaly Type 1
|
Lissencephaly, X-Linked 1
|
|
Subcortical Band Heterotopia X-Linked
|
SBHX
|
|
Sclh
|
Subcortical Laminar Heterotopia
|
|
Lissencephaly, X-Linked, Type 1
|
Subcortical Band Heterotopia
|
|
|
| Bardet-Biedl Syndrome 11 |
|
BBS11
|
Bardet-Biedl Syndrome
|
|
Bbs
|
Bardet-Biedl Syndrome, Type 11
|
|
|
| Granulomatous Amebic Encephalitis |
|
Granulomatous Amoebic Encephalitis
|
Acanthamoeba Encephalitis
|
|
Acanthamoeba Granulomatous Encephalitis
|
Granulomatous Amebic Encephalitis Due To Acanthamoeba
|
|
|
| Autosomal Dominant Distal Hereditary Motor Neuronopathy |
|
Autosomal Dominant Distal Hereditary Motor Neuropathy
|
Autosomal Dominant Dhmn
|
|
Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
|
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
MARCH
|
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly
|
|
Multinucleated Neurons-Anhydramnios-Renal Dysplasia-Cerebellar Hypoplasia-Hydranencephaly Syndrome
|
Hydranencephaly With Renal Aplasia-Dysplasia
|
|
March Syndrome
|
|
|
| Primary Amebic Meningoencephalitis |
|
Pam
|
Naegleria Fowleri Infection
|
|
Meningoencephalitis Caused By Naegleria Fowleri
|
Primary Amoebic Meningoencephalitis
|
|
|
| Amyloidosis, Finnish Type |
|
Finnish Type Amyloidosis
|
Meretoja Syndrome
|
|
Amyloidosis V
|
Amyloidosis, Meretoja Type
|
|
Amyloid Cranial Neuropathy With Lattice Corneal Dystrophy
|
Lattice Corneal Dystrophy Type Ii
|
|
Familial Amyloidosis, Finnish Type
|
Familial Amyloid Polyneuropathy Type Iv
|
|
Amyloidosis Due To Mutant Gelsolin
|
Agel Amyloidosis
|
|
Gelsolin Amyloidosis
|
Hereditary Gelsolin Amyloidosis
|
|
Lattice Corneal Dystrophy Type Ii Finnish
|
Gelsolin-Related Amyloidosis
|
|
Kymenlaakso Syndrome
|
Lattice Corneal Dystrophy, Gelsolin Type
|
|
Hereditary Amyloidosis, Finnish Type
|
Lattice Corneal Dystrophy Type 2
|
|
Amyloidosis 5
|
AMYL5
|
|
Agel
|
Familial Amyloidosis Finnish Type
|
|
Meretoja Type Amyloidosis
|
Type Iv Familial Amyloid Polyneuropathy
|
|
Familial Amyloid Polyneuropathy, Type V
|
Familial Amyloid Polyneuropathy, Type Iv
|
|
|
| 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
|
|
|
| Brachial Plexus Neuropathy |
|
Brachial Plexopathy
|
Brachial Plexus Neuropathies
|
|
Brachial Plexus Disorder
|
Bpn - [Brachial Plexus Neuropathy]
|
|
Brachial Plexus Disease
|
Neuropathic Plexus Brachialis
|
|
Brachial Plexus Syndrome
|
Brachial Plexus Irritation
|
|
Brachial Plexus Lesion
|
Brachial Plexus Pressure
|
|
Compression Of Brachial Plexus
|
|
|
| Distal Hereditary Motor Neuronopathy Type 2 |
|
Distal Hereditary Motor Neuropathy, Type Ii
|
Distal Hereditary Motor Neuropathy Type 2
|
|
Distal Hereditary Motor Neuropathy Type Ii
|
Hmn Ii
|
|
Hmn2
|
Distal Hereditary Motor Neuronopathy, Type Ii
|
|
Distal Spinal Muscular Atrophy Type 2
|
Dhmn2
|
|
Dsma2
|
Neuropathy, Motor, Distal, Hereditary, Type Ii
|
|
Spinal Muscular Atrophy, Jerash Type
|
|
|
| Refsum Disease, Classic |
|
Refsum Disease
|
Heredopathia Atactica Polyneuritiformis
|
|
Phytanic Acid Oxidase Deficiency
|
Hmsn Iv
|
|
Refsum Disease, Adult, 1
|
Refsum'S Disease
|
|
Phytanic Acid Storage Disease
|
Hereditary Motor And Sensory Neuropathy Iv
|
|
Hmsn4
|
Hmsn Type Iv
|
|
Hmsn 4
|
Adult Refsum Disease
|
|
Classic Refsum Disease
|
Hereditary Motor And Sensory Neuropathy Type Iv
|
|
Refsum Syndrome
|
Hsmn Iv
|
|
Disorder Of Cornification 11
|
Doc 11
|
|
Hereditary Sensory And Motor Neuropathy Type 4
|
Hypertrophic Neuropathy Of Refsum
|
|
Ard
|
Crd
|
|
Hereditary Motor And Sensory Neuropathy Type 4
|
Phytanic-Coa Hydroxylase Deficiency
|
|
RD
|
|
|
| Axonal Neuropathy |
|
|
| Hyaline Body Myopathy |
|
Myosin Storage Myopathy
|
Autosomal Dominant Hyaline Body Myopathy
|
|
Myopathy, Myosin Storage
|
|
|
| Amyotrophic Neuralgia |
|
Neuralgic Amyotrophy
|
Brachial Plexus Neuritis
|
|
Neuralgic Shoulder Amyotrophy
|
Acute Brachial Plexus Neuritis
|
|
Immune Brachial Plexus Neuropathy
|
Mononeuritis Multiplex With Brachial Predilection
|
|
Parsonage-Turner Syndrome
|
|
|
| Hennekam Syndrome |
|
Hennekam Lymphangiectasia Lymphedema Syndrome
|
Hennekam Lymphangiectasia-Lymphedema Syndrome
|
|
Lymphedema-Lymphangiectasia-Intellectual Disability Syndrome
|
Lymphedem-Lymphangiectasia-Intellectual Disability Syndrome
|
|
Intestinal Lymphagiectasia Lymphedema Intellectual Deficit Syndrome
|
Lymphangiectasies And Lymphedema Hennekam Type
|
|
Generalized Lymphatic Dysplasia
|
Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
|
|
|
| Glycogen Storage Disease Iii |
|
Glycogen Storage Disease Type Iii
|
Forbes Disease
|
|
Cori Disease
|
Glycogen Storage Disease Iiia
|
|
Amylo-1,6-Glucosidase Deficiency
|
Glycogen Storage Disease Iiib
|
|
Limit Dextrinosis
|
GSD3
|
|
Agl Deficiency
|
Glycogen Debrancher Deficiency
|
|
Gde Deficiency
|
Glycogen Storage Disease Iiic
|
|
Debrancher Deficiency
|
Glycogen Storage Disease Type 3
|
|
Glycogenosis Type Iii
|
Glycogen Storage Disease Iiid
|
|
Amylo 1,6 Glucosidase Deficiency
|
Deficiency Of Debranching Enzyme
|
|
Deficiency Of Dextrin
|
Glycogen Storage Disease, Type Iii
|
|
Glycogen Debranching Enzyme Deficiency
|
Cori'S Disease
|
|
Gsd Iii
|
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
|
|
Cori-Forbes Disease
|
Gsd Due To Glycogen Debranching Enzyme Deficiency
|
|
Gsd Type 3
|
Gsdiii
|
|
Glycogenosis Due To Glycogen Debranching Enzyme Deficiency
|
Glycogenosis Type 3
|
|
Glycogen Storage Disease 3
|
Glycogen Debranching Enzyme Deficiency
|
|
Gsd-Iii
|
Gsd Iiia
|
|
Gsd Iiib
|
Gsd Iiic
|
|
Gsd Iiid
|
Storage Disease, Glycogen, Type Iii
|
|
|
| Mononeuritis Of Upper Limb And Mononeuritis Multiplex |
|
|
| Primary Cutaneous Amyloidosis |
|
Plca
|
Primary Localized Cutaneous Amyloidosis
|
|
Familial Primary Localized Cutaneous Amyloidosis
|
Amyloidosis Ix
|
|
Lichen Amyloidosis Familial
|
Amyloidosis, Primary Cutaneous
|
|
Pca
|
Amyloidosis 9
|
|
Amyloidosis Familial Cutaneous Lichen
|
Fplca
|
|
Familial Lichen Amyloidosis
|
|
|
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Transthyretin Amyloidosis
|
Familial Amyloid Polyneuropathy
|
|
Ttr Amyloid Neuropathy
|
Transthyretin Amyloid Neuropathy
|
|
Transthyretin Amyloid Polyneuropathy
|
Fap
|
|
Familial Transthyretin Amyloidosis
|
Amyloidosis Transthyretin Related
|
|
Type I Familial Amyloid Polyneuropathy
|
Familial Amyloid Polyneuropathy Type I
|
|
Attrv122i Amyloidosis
|
Hereditary Amyloidosis, Transthyretin-Related
|
|
Amyloid Polyneuropathy, Familial
|
Attr Amyloidosis
|
|
Attrm Amyloidosis
|
Corino De Andrade'S Disease
|
|
Paramyloidosis
|
Transthyretin-Related Hereditary Amyloidosis
|
|
Ttr Amyloidosis
|
Hereditary Attr Amyloidosis
|
|
Portuguese Polyneuritic Amyloidosis
|
Portuguese Type Familial Amyloid Neuropathy
|
|
Swiss Type Amyloid Polyneuropathy
|
Type Ii Familial Amyloid Polyneuropathy
|
|
Attrv30m Amyloidosis
|
Attrv30m-Related Amyloidosis
|
|
Familial Amyloid Polyneuropathy, Portuguese-Swedish-Japanese Type
|
Attr Cardiomyopathy
|
|
Attrv122i-Related Amyloidosis
|
Ttr-Related Amyloid Cardiomyopathy
|
|
Ttr-Related Cardiac Amyloidosis
|
Transthyretin Amyloid Cardiopathy
|
|
Transthyretin-Related Familial Amyloid Cardiomyopathy
|
Amyloidosis, Transthyretin-Related
|
|
AMYL-TTR
|
Amyloidosis I
|
|
Amyloidosis Ohio Type
|
Amyloidosis Type 7
|
|
Amyloidosis Vii
|
Amyloid Polyneuropathy
|
|
Attr
|
Familial Amyloid Polyneuropathy Type Ii
|
|
Hereditary Amyloidosis Transthyretin-Related
|
Leptomeningeal Amyloidosis
|
|
Meningocerebrovascular Amyloidosis
|
Oculoleptomeningeal Amyloidosis
|
|
Familial Amyloid Polyneuropathies
|
Amyloidosis, Leptomeningeal
|
|
Senile Cardiac Amyloidosis
|
Amyloid Neuropathies, Familial
|
|
Danish Type Familial Amyloid Cardiomyopathy
|
Familial Amyloid Neuropathy, Portuguese Type
|
|
Amyloid Polyneuropathy, Swiss Type
|
Hereditary Oculoleptomeningeal Amyloid Angiopathy
|
|
Amyloid Neuropathies
|
|
|
| Perineurioma |
|
|
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cact Deficiency
|
Carnitine Acylcarnitine Translocase Deficiency
|
|
CACTD
|
Carnitine-Acylcarnitine Carrier Deficiency
|
|
|
| Riddle Syndrome |
|
RIDL
|
Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome
|
|
Rnf168 Deficiency
|
Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, And Learning Difficulties
|
|
Radiosensitivity, Immunodeficiency, Dysmorphic Features, And Learning Difficulties
|
|
|
| Postural Orthostatic Tachycardia Syndrome |
|
Irritable Heart
|
Mitral Valve Prolapse Syndrome
|
|
Neurocirculatory Asthenia
|
Orthostatic Intolerance Due To Net Deficiency
|
|
Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
|
Orhtostatic Intolerance
|
|
Postural Tachycardia Syndrome Due To Net Deficiency
|
Soldiers Heart
|
|
|
| Severe Nonproliferative Diabetic Retinopathy |
|
High Risk Non Proliferative Diabetic Retinopathy
|
Severe Npdr
|
|
|
| Hyperkalemic Periodic Paralysis |
|
HYPP
|
Gamstorp Disease
|
|
Gamstorp Episodic Adynamy
|
Adynamia Episodica Hereditaria With Or Without Myotonia
|
|
Familial Hyperkalemic Periodic Paralysis
|
Hyperkpp
|
|
Hyperpp
|
Adynamia Episodica Hereditaria
|
|
Primary Hyperkalemic Periodic Paralysis
|
Hyperkalemic Periodic Paralysis, Type 2
|
|
Sodium Channel Muscle Disease
|
Familial Hyperpp
|
|
Hyperkalemic Pp
|
Primary Hyperpp
|
|
Periodic Paralysis Hyperkalemic
|
Periodic Paralysis Normokalemic
|
|
NKPP
|
Periodic Paralysis Eukalemic
|
|
Paralysis, Hyperkalemic Periodic
|
Paralysis, Periodic, Hyperkalemic
|
|
Potassium Aggravated Myotonia
|
|
|
| Breast Benign Neoplasm |
|
Benign Tumour Of Breast
|
Benign Neoplasm Of Female Breast
|
|
|
| Thoracic Benign Neoplasm |
|
Benign Neoplasm Of Thorax
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f |
|
Delta-Sarcoglycanopathy
|
Lgmd2f
|
|
Limb-Girdle Muscular Dystrophy Due To Delta-Sarcoglycan Deficiency
|
Limb-Girdle Muscular Dystrophy Type 2f
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2e |
|
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
|
CMT2S
|
CMT2Y
|
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
| Peripheral Vertigo |
|
|
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Dejerine-Sottas Disease
|
Dejerine-Sottas Syndrome
|
|
Charcot-Marie-Tooth Disease Type 3
|
DSS
|
|
Hereditary Motor And Sensory Neuropathy Type Iii
|
Hmsn3
|
|
Dejerine-Sottas Neuropathy
|
Hmsn Iii
|
|
Charcot-Marie-Tooth Disease, Type 3
|
Cmt3
|
|
Dsn
|
Hmsn 3
|
|
Hereditary Motor And Sensory Neuropathy Type 3
|
Hereditary Motor And Sensory Neuropathy 3
|
|
Hypertrophic Neuropathy Of Infancy
|
Charcot-Marie-Tooth Disease Demyelinating Type 4f
|
|
Charcot-Marie-Tooth Disease Type 4f
|
Charcot-Marie-Tooth Neuropathy Type 4f
|
|
Cmt4f
|
Hereditary Motor And Sensory Neuropathy Iii
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
|
|
|
| Paramyotonia Congenita Of Von Eulenburg |
|
Paramyotonia Congenita
|
PMC
|
|
Paralysis Periodica Paramyotonica
|
Eulenburg Disease
|
|
Myotonia Congenita Intermittens
|
Von Eulenburg Paramyotonia Congenita
|
|
Paralysis Periodica Paramyotonia
|
Von Eulenberg'S Disease
|
|
Paramyotonia Congenita Without Cold Paralysis
|
Eulenburg Syndrome
|
|
Paramyotonia
|
|
|
| Three M Syndrome 1 |
|
3-M Syndrome
|
Yakut Short Stature Syndrome
|
|
3m Syndrome
|
Le Merrer Syndrome
|
|
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
|
|
Dwarfism
|
Dwarfism Tall Vertebrae
|
|
|
| Intracranial Meningioma |
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Vlcad Deficiency
|
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
|
Lcad Deficiency
|
|
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
Long Chain Acyl-Coa Dehydrogenase Deficiency
|
|
ACADVLD
|
Acadl Deficiency
|
|
Vlcadd
|
Long-Chain Acyl-Coa Dehydrogenase Deficiency
|
|
Acadvl
|
Acyl-Coa Dehydrogenase Very Long Chain Deficiency
|
|
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency
|
Vlcad-C
|
|
Vlcad-H
|
Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
|
|
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency
|
Acyl-Coa Dehydrogenase Long-Chain Deficiency
|
|
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase
|
Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency
|
|
|
| Hyperekplexia |
|
Hereditary Hyperekplexia
|
Kok Disease
|
|
Congenital Stiff Man Syndrome
|
Familial Startle Disease
|
|
Sthe
|
Stiff-Baby Syndrome
|
|
Hereditary Hyperexplexia
|
Startle Disease
|
|
Exaggerated Startle Reaction
|
Hyperexplexia Hereditary
|
|
Startle Disease, Familial
|
Startle Reaction, Exaggerated
|
|
Stiff-Man Syndrome, Congenital
|
Stiff-Person Syndrome, Congenital
|
|
Congenital Stiff-Man Syndrome
|
Congenital Stiff-Person Syndrome
|
|
Familial Hyperekplexia
|
Startle Syndrome
|
|
Stiff Baby Syndrome
|
Hyperekplexia, Hereditary
|
|
Stiff-Person Syndrome
|
|
|
| Myoclonic Epilepsy Of Lafora |
|
Lafora Disease
|
Epilepsy, Progressive Myoclonic 2b
|
|
EPM2
|
Melf
|
|
Epilepsy, Progressive Myoclonic 2a
|
Epm2a
|
|
Lafora'S Disease
|
Lafora Body Disease
|
|
Lbd
|
Epilepsy, Progressive Myoclonic, 2a
|
|
Lafora Progressive Myoclonic Epilepsy
|
Epilepsy Progressive Myoclonic 2
|
|
Lafora Body Disorder
|
Pme Type 2
|
|
Progressive Myoclonic Epilepsy Type 2
|
Progressive Myoclonus Epilepsy Type 2
|
|
Epilepsy, Progressive Myoclonic 2
|
Epm2b
|
|
Ld
|
Progressive Myoclonic Epilepsy 2
|
|
Progressive Myoclonic Epilepsy 2a
|
Progressive Myoclonic Epilepsy 2b
|
|
Progressive Myoclonic Epilepsy Lafora Type
|
Epilepsy, Myoclonic, Of Lafora
|
|
|
| Syringomyelia |
|
|
| Subjective Cognitive Decline |
|
|
| Glycogen Storage Disease Iv |
|
Gsd Iv
|
Glycogen Branching Enzyme Deficiency
|
|
Andersen Disease
|
Amylopectinosis
|
|
Glycogen Storage Disease Type Iv
|
GSD4
|
|
Brancher Deficiency
|
Glycogen Storage Disease, Type Iv
|
|
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
|
Gbe1 Deficiency
|
|
Glycogenosis Iv
|
Cirrhosis, Familial, With Deposition Of Abnormal Glycogen
|
|
Glycogen Storage Disease Type 4
|
Glycogenosis 4
|
|
Potassium-Sensitive Periodic Paralysis, Ventricular Ectopy, And Dysmorphic Features
|
Andersen'S Disease
|
|
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
|
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
|
|
Brancher Deficiency Glycogenosis
|
Branching-Transferase Deficiency Glycogenosis
|
|
Deficiency Of 1,4-Alpha-Glucan Branching Enzyme
|
Andersen-Tawil Syndrome
|
|
Gsd 4
|
Andersen Cardiodysrhythmic Periodic Paralysis
|
|
Lqt7
|
Long Qt Syndrome 7
|
|
Periodic Paralysis, Potassium-Sensitive Cardiodysrhythmic Type
|
Andersen Glycogenosis
|
|
Branching Enzyme Deficiency
|
Glycogenosis, Type Iv
|
|
Gsd Type Iv
|
Type Iv Glycogenosis
|
|
Gbe Deficiency, Childhood Neuromuscular Form
|
Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
|
|
Gsd Type 4, Childhood Neuromuscular Form
|
Gsdiv, Childhood Neuromuscular Form
|
|
Glycogen Storage Disease Type 4, Childhood Neuromuscular Form
|
Glycogen Storage Disease Type Iv, Childhood Neuromuscular Form
|
|
Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Neuromuscular Form
|
Glycogenosis Type 4, Childhood Neuromuscular Form
|
|
Glycogenosis Type Iv, Childhood Neuromuscular Form
|
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
|
|
Gbe Deficiency, Adult Neuromuscular Form
|
Gsd Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
|
|
Gsd Type 4, Adult Neuromuscular Form
|
Gsdiv, Adult Neuromuscular Form
|
|
Glycogen Storage Disease Type 4, Adult Neuromuscular Form
|
Glycogen Storage Disease Type Iv, Adult Neuromuscular Form
|
|
Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Adult Neuromuscular Form
|
Glycogenosis Type 4, Adult Neuromuscular Form
|
|
Glycogenosis Type Iv, Adult Neuromuscular Form
|
Gbe Deficiency, Congenital Neuromuscular Form
|
|
Gsd Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
|
Gsd Type 4, Congenital Neuromuscular Form
|
|
Gsdiv, Congenital Neuromuscular Form
|
Glycogen Storage Disease Type 4, Congenital Neuromuscular Form
|
|
Glycogen Storage Disease Type Iv, Congenital Neuromuscular Form
|
Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Congenital Neuromuscular Form
|
|
Glycogenosis Type 4, Congenital Neuromuscular Form
|
Glycogenosis Type Iv, Congenital Neuromuscular Form
|
|
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form
|
Gbe Deficiency, Childhood Combined Hepatic And Myopathic Form
|
|
Gsd Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form
|
Gsd Type 4, Childhood Combined Hepatic And Myopathic Form
|
|
Gsdiv, Childhood Combined Hepatic And Myopathic Form
|
Glycogen Storage Disease Type 4, Childhood Combined Hepatic And Myopathic Form
|
|
Glycogen Storage Disease Type Iv, Childhood Combined Hepatic And Myopathic Form
|
Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Childhood Combined Hepatic And Myopathic Form
|
|
Glycogenosis Type 4, Childhood Combined Hepatic And Myopathic Form
|
Glycogenosis Type Iv, Childhood Combined Hepatic And Myopathic Form
|
|
Gbe Deficiency, Fatal Perinatal Neuromuscular Form
|
Gsd Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
|
|
Gsd Type 4, Fatal Perinatal Neuromuscular Form
|
Gsdiv, Fatal Perinatal Neuromuscular Form
|
|
Glycogen Storage Disease Type 4, Fatal Perinatal Neuromuscular Form
|
Glycogen Storage Disease Type Iv, Fatal Perinatal Neuromuscular Form
|
|
Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Fatal Perinatal Neuromuscular Form
|
Glycogenosis Type 4, Fatal Perinatal Neuromuscular Form
|
|
Glycogenosis Type Iv, Fatal Perinatal Neuromuscular Form
|
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form
|
|
Gbe Deficiency, Non Progressive Hepatic Form
|
Gsd Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form
|
|
Gsd Type 4, Non Progressive Hepatic Form
|
Gsdiv, Non Progressive Hepatic Form
|
|
Glycogen Storage Disease Type 4, Non Progressive Hepatic Form
|
Glycogen Storage Disease Type Iv, Non Progressive Hepatic Form
|
|
Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Non Progressive Hepatic Form
|
Glycogenosis Type 4, Non Progressive Hepatic Form
|
|
Glycogenosis Type Iv, Non Progressive Hepatic Form
|
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
|
|
Gbe Deficiency, Progressive Hepatic Form
|
Gsd Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
|
|
Gsd Type 4, Progressive Hepatic Form
|
Gsdiv, Progressive Hepatic Form
|
|
Glycogen Storage Disease Type 4, Progressive Hepatic Form
|
Glycogen Storage Disease Type Iv, Progressive Hepatic Form
|
|
Glycogenosis Due To Glycogen Branching Enzyme Deficiency, Progressive Hepatic Form
|
Glycogenosis Type 4, Progressive Hepatic Form
|
|
Glycogenosis Type Iv, Progressive Hepatic Form
|
Glycogen Storage Disease 4
|
|
Gsd-Iv
|
Storage Disease, Glycogen, Type Iv
|
|
|
| Congenital Structural Myopathy |
|
|
| Progressive Myoclonus Epilepsy |
|
Pme
|
Progressive Myoclonic Epilepsy
|
|
Myoclonic Epilepsies, Progressive
|
Unverricht-Lundborg Syndrome
|
|
|
| Charcot-Marie-Tooth Disease, Type 4b1 |
|
Charcot-Marie-Tooth Disease Type 4b1
|
CMT4B1
|
|
Cmt4b
|
Charcot-Marie-Tooth Neuropathy Type 4b1
|
|
Charcot-Marie-Tooth Disease Type 4b
|
Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1
|
|
Charcot-Marie-Tooth Neuropathy, Type 4b1
|
Charcot-Marie-Tooth Disease, Type 4b
|
|
Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1
|
Charcot-Marie-Tooth Disease 4b1
|
|
Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1
|
Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
|
|
|
| Meniere Disease |
|
Meniere'S Disease
|
Otogenic Vertigo
|
|
Ménière Disease
|
Ménière'S Disease
|
|
Mnire'S Vertigo
|
Auditory Vertigo
|
|
Aural Vertigo
|
Meniere'S Syndrome
|
|
Ménière'S Vertigo
|
Primary Endolymphatic Hydrops
|
|
Menieres Disease
|
Vertigo, Aural
|
|
Labyrinth Hydrops
|
Labyrinthine Hydrops
|
|
Labyrinthine Vertigo
|
Ménière Syndrome
|
|
Ménière Vertigo
|
Idiopathic Endolymphatic Hydrops
|
|
|
| Ebstein Anomaly |
|
Ebstein'S Anomaly
|
Ebstein'S Anomaly Of Common Atrioventricular Valve
|
|
Ebstein'S Anomaly Of Right Atrioventricular Valve
|
Ebstein'S Anomaly Of Tricuspid Valve
|
|
Ebstein'S Malformation
|
Ebstein Malformation Of The Tricuspid Valve
|
|
Ebstein Anomaly Of The Tricuspid Valve
|
Ebstein Disease
|
|
Accessory Tricuspid Valve Tissue
|
Congenital Ebstein Deformity Of Tricuspid Valve
|
|
Ebstein Syndrome
|
Ebstein Cardiopathy
|
|
Ebstein Anomaly Of Tricuspid Valve
|
|
|
| Myofibrillar Myopathy |
|
Desmin Related Myopathy
|
Myotilinopathy
|
|
Myopathy, Myofibrillar
|
Alpha Beta Crystallinopathy
|
|
Desmin Storage Myopathy
|
Desminopathy
|
|
Filaminopathy
|
Protein Surplus Myopathy
|
|
Zaspopathy
|
Myofibrillar Myopathies
|
|
Myopathy, Myofibrillar, Desmin-Related
|
Myopathy, Desmin Storage
|
|
Mfm - [Myofibrillar Myopathy]
|
|
|
| Syndromic X-Linked Intellectual Disability |
|
X-Linked Syndromic Intellectual Disability
|
|
|
| Periventricular Nodular Heterotopia |
|
Periventricular Heterotopia
|
Pvnh
|
|
Familial Nodular Heterotopia
|
Heterotopia, Periventricular
|
|
Periventricular Heterotopia, X-Linked
|
|
|
| Multiminicore Disease |
|
Multiminicore Myopathy
|
Mmd
|
|
Minicore Disease
|
Minicore Myopathy
|
|
Multi-Core Congenital Myopathy
|
Multi-Core Disease
|
|
Multi-Minicore Disease
|
Multicore Disease
|
|
Multicore Myopathy
|
Minicore Myopathy With External Ophthalmoplegia
|
|
|
| Facial Nerve Disease |
|
Facial Nerve Disorder
|
Facial Nerve Diseases
|
|
Neuropathy Of Facial Nerve
|
Disorders Of 7th Cranial Nerve
|
|
Disorders Of The Seventh Cranial Nerve
|
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Merrf Syndrome
|
MERRF
|
|
Fukuhara Syndrome
|
Myoclonic Epilepsy Associated With Ragged Red Fibers
|
|
Myoencephalopathy Ragged-Red Fiber Disease
|
Myoclonic Epilepsy - Ragged Red Fibers
|
|
Myoclonus Epilepsy And Ragged Red Fibers
|
Myoclonus With Epilepsy And With Ragged Red Fibers
|
|
Myoclonic Epilepsy With Ragged Red Fibers
|
Myoclonic Epilepsy With Ragged-Red Fibers
|
|
Fukuhara Disease
|
Myoclonus Epilepsy Associated With Ragged-Red Fibres
|
|
Myoclonus With Epilepsy With Ragged Red Fibers
|
|
|
| Alpha Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Atr-X Syndrome
|
Atr, Nondeletion Type
|
|
Alpha-Thalassemia X-Linked Intellectual Disability Syndrome
|
Atrx Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome Nondeletion Type
|
Alpha Thalassemia Intellectual Disability Syndrome, Nondeletion Type, X-Linked
|
|
X-Linked Alpha-Thalassemia/Intellectual Disability Syndrome
|
Xlmr Hypotonic Face Syndrome
|
|
Alpha Thalassemia X-Linked Intellectual Disability Syndrome
|
Alpha Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha Thalassemia/Mental Retardation, X-Linked
|
Alpha-Thalassemia X-Linked Mental Retardation Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type
|
X-Linked Alpha-Thalassemia/Mental Retardation Syndrome
|
|
Xlmr-Hypotonic Face Syndrome
|
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
|
|
Alpha-Thalassemia/Mental Retardation Syndrome, Nondeletion Type, X-Linked
|
|
|
| Facial Paralysis |
|
|
| Peroxisomal Biogenesis Disorder |
|
Zellweger Spectrum Disorders
|
Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum
|
|
Disorders Of Peroxisome Biogenesis
|
Zellweger Spectrum
|
|
Zellweger Syndrome Spectrum
|
Peroxisomal Biogenesis Disorders
|
|
Pbd, Zss
|
Pbd-Zsd
|
|
Pbd-Zss
|
Pbd-Zellweger Spectrum Disorder
|
|
Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum
|
Peroxisome Biogenesis Disorder
|
|
Peroxisome Biogenesis Disorder Spectrum
|
Peroxisome Biogenesis Disorders
|
|
Zellweger Spectrum Disorder
|
Hyperpipecolic Acidaemia
|
|
|
| Breast Fibroadenoma |
|
Fibroadenoma
|
Fibroadenoma Of Breast
|
|
Juvenile Fibroadenoma Of Breast
|
Cellular Fibroadenoma
|
|
Complex Fibroadenoma Of Breast
|
Juvenile Fibroadenoma
|
|
Fibroadenoma Nos
|
Fibroadenoma Unspecified Site
|
|
|
| Myotonia Congenita |
|
Congenital Myotonia, Autosomal Dominant Form
|
Congenital Myotonia
|
|
Thomsen And Becker Disease
|
Thomsen Disease
|
|
Thomsen'S Disease
|
Generalized Myotonia Of Thomsen
|
|
Congenital Myotonic Muscular Dystrophy
|
Myotonia Congenita Nos
|
|
|
| Corneal Dystrophy, Congenital Stromal |
|
Congenital Stromal Corneal Dystrophy
|
CSCD
|
|
Congenital Hereditary Stromal Dystrophy
|
Congenital Hereditary Stromal Dystrophy Of The Cornea
|
|
Congenital Stromal Dystrophy Of The Cornea
|
Dacs
|
|
Decorin-Associated Congenital Stromal Corneal Dystrophy
|
Dystrophia Corneae Parenchymatosa Congenita
|
|
Witschel Dystrophy
|
Dystrophy, Corneal, Stromal, Congenital
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c |
|
Autosomal Recessive Duchenne-Like Muscular Dystrophy Type 1
|
Deficiency Of Sarcoglycan Gamma
|
|
Dmda1
|
Gamma-Sarcoglycanopathy
|
|
Lgmd2c
|
Limb-Girdle Muscular Dystrophy Due To Gamma-Sarcoglycan Deficiency
|
|
Maghrebian Myopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2c
|
|
Scarmd
|
Severe Childhood Autosomal Recessive Muscular Dystrophy North African Type
|
|
|
| Chronic Inflammatory Demyelinating Polyradiculoneuropathy |
|
Chronic Inflammatory Demyelinating Polyneuropathy
|
Cidp
|
|
Polyradiculoneuropathy Chronic Inflammatory Demyelinating
|
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating
|
|
|
| Charcot-Marie-Tooth Disease, Axonal, Type 2b |
|
Charcot-Marie-Tooth Disease Type 2b
|
CMT2B
|
|
Hmsn Iib
|
Hmsn2b
|
|
Charcot-Marie-Tooth Disease, Type 2b
|
Hereditary Motor And Sensory Neuropathy Iib
|
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b
|
Charcot-Marie-Tooth Neuropathy Type 2b
|
|
Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b
|
Charcot-Marie-Tooth Neuropathy, Type 2b
|
|
Hereditary Motor And Sensory Nueropathy Iib
|
Cmt 2b
|
|
Charcot Marie Tooth Disease Type 2b
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2b
|
|
Hereditary Motor And Sensory Neuropathy 2 B
|
Peripheral Sensory Neuropathy, Autosomal Dominant
|
|
Charcot-Marie-Tooth Disease 2b
|
Charcot-Marie-Tooth Disease Axonal Type 2b
|
|
Charcot-Marie-Tooth Disease Neuronal Type 2b
|
Peripheral Sensory Neuropathy Autosomal Dominant
|
|
Psn
|
|
|
| Myopathy, Myofibrillar, 1 |
|
Desmin-Related Myofibrillar Myopathy
|
Desmin-Related Myopathy
|
|
MFM1
|
Myopathy, Myofibrillar, Desmin-Related
|
|
Drm
|
Myofibrillar Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
|
|
Desmin-Related Myopathy With Arrhythmogenic Right Ventricular Cardiomyopathy
|
Myofibrillar Myopathy 1
|
|
Desminopathy
|
Muscular Dystrophy, Limb-Girdle, Type 2r
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7
|
Desminopathy, Primary
|
|
Arrhythmogenic Right Ventricular Dysplasia, Familial, 7, Formerly
|
Arvd7, Formerly
|
|
Arrhythmogenic Right Ventricular Cardiomyopathy 7, Formerly
|
Arvc7, Formerly
|
|
Inclusion Body Myopathy 1, Autosomal Dominant, Formerly
|
Ibm1, Formerly
|
|
Cardiomyopathy, Dilated, 1f And Limb-Girdle Muscular Dystrophy Type 1d, Formerly
|
Cmd1f And Lgmd1d, Formerly
|
|
Cardiomyopathy, Dilated, With Conduction Defect And Muscular Dystrophy
|
Cdcd3, Formerly
|
|
Muscular Dystrophy, Limb-Girdle, Type 2r, Formerly
|
Lgmd2r, Formerly
|
|
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
|
Arrhythmogenic Right Ventricular Cardiomyopathy 7
|
|
Arvc7
|
Arvd7
|
|
Autosomal Dominant Inclusion Body Myopathy 1
|
Cdcd3
|
|
Cmd1f And Lgmd1d
|
Desminopathy Primary
|
|
Dilated Cardiomyopathy 1f And Limb-Girdle Muscular Dystrophy Type 1d
|
Dilated Cardiomyopathy With Conduction Defect And Muscular Dystrophy
|
|
Familial Arrhythmogenic Right Ventricular Dysplasia 7
|
Lgmd2r
|
|
Limb-Girdle Muscular Dystrophy 2r
|
Mfm Desmin-Related
|
|
Myopathy Myofibrillar Desmin-Related
|
Dystrophy, Muscular, Limb-Girdle, Type 2r
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Non-Syndromic X-Linked Intellectual Disability |
|
X-Linked Non-Syndromic Intellectual Disability
|
Non-Specific X-Linked Mental Retardation
|
|
X-Linked Non-Specific Intellectual Disability
|
|
|
| Pulmonary Valve Stenosis |
|
Valvular Pulmonary Stenosis
|
Heart Valve Pulmonary Stenosis
|
|
Valvar Pulmonary Stenosis
|
Valvate Pulmonary Stenosis
|
|
Pulmonary Stenosis
|
Pulmonary Valve Stricture
|
|
Pulmonic Valve Stenosis
|
Ps - [Pulmonary Valve Stenosis]
|
|
Pvs - [Pulmonary Valve Stenosis]
|
Pulmonary Valvular Stricture
|
|
Pulmonary Valvular Stenosis
|
Pulmonary Valvular Obstruction
|
|
Pulmonary Valve Obstruction
|
Obstructed Pulmonary Valve
|
|
|
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemic Periodic Paralysis
|
Hokpp
|
|
Hypopp
|
Westphall Disease
|
|
HOKPP1
|
Familial Hypokalemic Periodic Paralysis
|
|
Familial Periodic Paralysis
|
Westphal Disease
|
|
Hypokalemic Periodic Paralysis Type 1
|
Hypokalemic Familial Periodic Paralysis
|
|
Periodic Hypokalemic Paralysis
|
Periodic Paralysis I
|
|
Hypokpp
|
Primary Hypokalemic Periodic Paralysis
|
|
Periodic Paralysis Hypokalemic 1
|
Paralysis, Hypokalemic, Periodic
|
|
Paralysis, Hypokalemic, Periodic, Type 1
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d |
|
Alpha-Sarcoglycanopathy
|
Dmda2
|
|
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2
|
Lgmd2d
|
|
Muscular Dystrophy, Limb-Girdle, Type 2d
|
Primary Adhalinopathy
|
|
|
| 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
|
|
|
| Autosomal Recessive Limb-Girdle Muscular Dystrophy |
|
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive
|
|
|
| Familial Periodic Paralysis |
|
Genetic Periodic Paralysis
|
Paralyses, Familial Periodic
|
|
|
| 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
|
|
|
| Anencephaly |
|
Aprosencephaly
|
Anencephalus
|
|
Congenital Absence Of Brain
|
Absence Of A Large Part Of The Brain And The Skull
|
|
Anencephalia
|
Anencephalic Monster
|
|
Brain Absence
|
Brain Agenesis
|
|
Brain Aplasia
|
Absent Brain
|
|
Anencephalic
|
Congenital Absence Of Cerebrum
|
|
Congenital Hemicrania
|
Incomplete Anencephaly
|
|
|
| Myotonic Dystrophy 2 |
|
Myotonic Dystrophy Type 2
|
Proximal Myotonic Myopathy
|
|
Promm
|
Ricker Syndrome
|
|
DM2
|
Dystrophia Myotonica 2
|
|
Myotonic Myopathy, Proximal
|
Myotonic Disorders
|
|
Dystrophia Myotonica Type 2
|
Proximal Myotonic Dystrophy
|
|
Ricker Disease
|
Myotonic Dystrophy, Type 2
|
|
Dystrophy, Myotonic, Type 2
|
|
|
| Chanarin-Dorfman Syndrome |
|
Neutral Lipid Storage Disease
|
CDS
|
|
Neutral Lipid Storage Disease With Ichthyosis
|
Triglyceride Storage Disease With Impaired Long-Chain Fatty Acid Oxidation
|
|
Triglyceride Storage Disease With Ichthyosis
|
Nlsdi
|
|
Ichthyotic Neutral Lipid Storage Disease
|
Dorfman-Chanarin Syndrome
|
|
Dcs
|
Chanarin-Dorfman Disease
|
|
Ichthyosiform Erythroderma With Leukocyte Vacuolation
|
Lipidosis With Triglyceride Storage Disease
|
|
Disorder Of Cornification 12
|
Dorfman Chanarin Syndrome
|
|
Neutral Lipid Storage Disease With Ichthyotic
|
Dorfman-Chanarin Disease
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| Neuromuscular Disease |
|
Neuromuscular Diseases
|
Neuromuscular Disorders
|
|
Neuromuscular Disorder
|
|
|
| Syndromic Intellectual Disability |
|
|
| Peroxisomal Disease |
|
Peroxisomal Disorder
|
Peroxisomal Disorders
|
|
Peroxisomal Defects
|
|
|
| Specific Language Impairment |
|
Language Impairment, Specific
|
|
|
| Left Ventricular Noncompaction |
|
Noncompaction Cardiomyopathy
|
Left Ventricular Hypertrabeculation
|
|
Lvnc
|
Spongy Myocardium
|
|
Isolated Noncompaction Of The Ventricular Myocardium
|
Left Ventricular Myocardial Noncompaction Cardiomyopathy
|
|
Fetal Myocardium
|
Honeycomb Myocardium
|
|
Hypertrabeculation Syndrome
|
Left Ventricular Non-Compaction
|
|
Lvht
|
Non-Compaction Of The Left Ventricular Myocardium
|
|
Ventricular Noncompaction, Left
|
Non-Compaction Cardiomyopathy
|
|
|
| Zellweger Syndrome |
|
Cerebrohepatorenal Syndrome
|
Zellweger Leukodystrophy
|
|
Zs
|
Congenital Iron Overload
|
|
Chr
|
Zws
|
|
Severe Pbd-Zsd
|
Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
|
|
|
| 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
|
|
|
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Kennedy Disease
|
Sbma
|
|
Spinal And Bulbar Muscular Atrophy
|
Kennedy'S Disease
|
|
X-Linked Spinal And Bulbar Muscular Atrophy
|
SMAX1
|
|
Kd
|
Kennedy Spinal And Bulbar Muscular Atrophy
|
|
Spinobulbar Muscular Atrophy
|
Bulbospinal Muscular Atrophy, X-Linked
|
|
Bulbospinal Neuronopathy, X-Linked Recessive
|
Xbsn
|
|
Spinal And Bulbar Muscular Atrophy Of Kennedy
|
Bulbospinal Muscular Atrophy
|
|
X-Linked Bulbospinal Amyotrophy
|
Bulbo-Spinal Atrophy, X-Linked
|
|
Spinal Bulbar Muscular Atrophy
|
X-Linked Bulbo-Spinal Atrophy
|
|
X-Linked Spinal Bulbar Muscular Atrophy
|
X-Linked Bsma
|
|
X-Linked Bulbospinal Muscular Atrophy
|
Spinal And Bulbar Muscular Atrophy X-Linked 1
|
|
Bulbospinal Muscular Atrophy X-Linked
|
Bulbospinal Neuronopathy X-Linked Recessive
|
|
Kennedy Disease)
|
Kennedy Syndrome
|
|
Atrophy, Muscular, Spinal And Bulbar, Kennedy Type
|
Atrophy, Muscular, Spinobulbar
|
|
Bulbospinal Neuronopathy
|
|
|
| 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
|
|
|
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Melas Syndrome
|
MELAS
|
|
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes
|
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
|
|
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes
|
Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
|
|
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
|
|
|
| Spinal Muscular Atrophy |
|
Sma
|
5q Sma
|
|
Proximal Sma
|
Sma-Associated Sma
|
|
Spinal Amyotrophies
|
Spinal Amyotrophy
|
|
Spinal Muscle Degeneration
|
Spinal Muscle Wasting
|
|
Muscular Atrophy Spinal
|
Atrophy, Muscular, Spinal
|
|
Hereditary Motor Neuronopathy
|
Progressive Muscular Atrophy
|
|
Sma - [Spinal Muscular Atrophy]
|
|
|
| Specific Developmental Disorder |
|
|
| Charcot-Marie-Tooth Disease |
|
Cmt
|
Hmsn
|
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
| Bardet-Biedl Syndrome |
|
Bbs
|
Biedl-Bardet Syndrome
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Hypertrophic Cardiomyopathy |
|
Hypertrophic Obstructive Cardiomyopathy
|
Cardiomyopathy, Hypertrophic
|
|
Cardiomyopathy Hypertrophic Obstructive
|
Cardiomyopathy, Hypertrophic, Familial
|
|
Idiopathic Myocardial Hypertrophy
|
Idiopathic Hypertrophic Cardiomyopathy
|
|
Obstructive Idiopathic Hypertrophic Cardiomyopathy
|
Obstructive Cardiomyopathy
|
|
Idiopathic Hypertrophic Subaortic Stenosis
|
Muscular Subaortic Stenosis
|
|
Hypertrophic Obstructive Subaortic Stenosis
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Eye Disease |
|
Eye Diseases
|
Abnormality Of The Eye
|
|
Toxoplasma Oculopathy
|
|
|
| Myopathy |
|
Muscular Diseases
|
Myopathies
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| 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
|
|
|
