Diseases |
Alias |
|
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
Charcot-Marie-Tooth Disease Recessive Intermediate B
|
CMTRIB
|
Ri-Cmtb
|
Charcot-Marie-Tooth Disease, Recessive Intermediate, B
|
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type B
|
Charcot-Marie-Tooth Neuropathy Recessive Intermediate B
|
Charcot-Marie-Tooth Neuropathy, Recessive Intermediate B
|
Ri-Cmt Type B
|
Charcot-Marie-Tooth Disease, Recessive, Intermediate Type, B
|
|
|
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
LEPID
|
Leukoencephalopathy, Progressive, Infantile-Onset, With/Without Deafness
|
|
|
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
|
Deafness, Autosomal Recessive 89 |
DFNB89
|
Autosomal Recessive Nonsyndromic Deafness 89
|
Autosomal Recessive Deafness 89
|
Deafness, Autosomal Recessive, 89
|
Deafness, Autosomal Recessive, Type 89
|
|
|
Lactic Acidosis |
Acidosis, Lactic
|
Acidosis Lactic
|
|
|
Optic Nerve Disease |
Optic Neuropathy
|
Disorder Of The Second Nerve
|
Optic Nerve Disorder
|
Optic Nerve
|
Abnormality Of The Optic Nerve
|
Optic Nerve Disorders
|
Neuropathy, Optic
|
Disorder Of The Optic Nerve
|
|
|
Leukodystrophy |
|
|
Hypomyelinating Leukodystrophy |
Hld
|
Leukodystrophy, Hypomyelinating
|
|
|
Non-Syndromic Genetic Deafness |
Nonsyndromic Genetic Hearing Loss
|
Isolated Genetic Deafness
|
Isolated Genetic Hearing Loss
|
Non-Syndromic Genetic Hearing Loss
|
|
|
Nonsyndromic Hearing Loss |
Nonsyndromic Deafness
|
Nonsyndromic Hearing Impairment
|
Nonsyndromic Hearing Loss And Deafness
|
Deafness, Nonsyndromic
|
Isolated Deafness
|
|
|
Sensorineural Hearing Loss |
Sensory Hearing Loss
|
Sensorineural Deafness
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
Central Hearing Loss
|
High Frequency Deafness
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
Hypotonia |
|
|
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb
|
Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
|
Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb
|
Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
|
Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb
|
Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
|
Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
|
|
|
Microcephaly |
Microencephaly
|
Microcephalus
|
Microcephalic
|
Nanocephaly
|
Congenital Microcephaly
|
Brain Hypoplasia
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
Micrencephalon
|
Micrencephaly
|
|
|
Polymyositis |
|
|
Neuronopathy, Distal Hereditary Motor, Type Va |
Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
Young Adult-Onset Distal Hereditary Motor Neuropathy
|
Neuronopathy, Distal Hereditary Motor, Type V
|
Distal Hereditary Motor Neuronopathy Type 5
|
Dhmn5
|
Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
Hmn5
|
Dhmn5a
|
Dhmn Va
|
Dsmava
|
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
Young Adult-Onset Dhmn
|
Dhmn-V
|
Hmn V
|
Neuronopathy, Distal Hereditary Motor, Type 5a
|
Hmn 5a
|
Neuropathy, Distal Hereditary Motor, Type Va
|
Spinal Muscular Atrophy, Distal, Type Va
|
Spinal Muscular Atrophy, Distal, Type V
|
Distal Spinal Muscular Atrophy Type V
|
Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
Distal Hereditary Motor Neuronopathy Type 5a
|
Distal Hmn Va
|
Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
Distal Hereditary Motor Neuronopathy, Type V
|
Distal Spinal Muscular Atrophy, Type V
|
Spinal Muscular Atrophy, Distal Type V
|
Distal Hereditary Motor Neuropathy Type 5
|
Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
Dsma-V
|
Hmn Va
|
Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
Spinal Muscular Atrophy Distal With Upper Limb Predominance
|
Neuropathy, Distal Hereditary Motor, Type V
|
Neuropathy, Motor, Distal, Hereditary, Type Va
|
|
|
Microcytic Anemia |
Iron-Refractory Iron Deficiency Anemia
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2d |
Charcot-Marie-Tooth Disease Type 2d
|
CMT2D
|
Charcot-Marie-Tooth Disease, Type 2d
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d
|
Charcot-Marie-Tooth Disease Neuronal Type 2d
|
Charcot-Marie-Tooth Neuropathy Type 2d
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2d
|
Charcot-Marie-Tooth Neuropathy, Type 2d
|
Charcot-Marie-Tooth Disease 2d
|
Charcot-Marie-Tooth Disease Axonal Type 2d
|
|
|
Leukodystrophy, Hypomyelinating, 3 |
Hypomyelinating Leukodystrophy 3
|
HLD3
|
Pelizaeus-Merzbacher-Like Disease Due To Aimp1 Mutation
|
Leukodystrophy, Hypomyelinating 3
|
Perinatal Sudanophilic Leukodystrophy
|
Leukodystrophy, Hypomyelinating, Type 3
|
Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2
|
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
CMTDIC
|
Charcot-Marie-Tooth Disease Dominant Intermediate C
|
Di-Cmtc
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C
|
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C
|
Charcot-Marie-Tooth Neuropathy Dominant Intermediate C
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n |
Charcot-Marie-Tooth Disease Axonal Type 2n
|
CMT2N
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2n
|
Charcot-Marie-Tooth Neuropathy, Axonal, Type 2n
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2n
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2n
|
Charcot-Marie-Tooth Disease 2n
|
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2n
|
Charcot-Marie-Tooth Disease, Type 2n
|
|
|
Developmental And Epileptic Encephalopathy 75 |
DEE75
|
Epileptic Encephalopathy, Early Infantile, 75
|
Eiee75
|
Developmental And Epileptic Encephalopathy, 75
|
Early Infantile Epileptic Encephalopathy 75
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2u |
CMT2U
|
Charcot-Marie-Tooth Disease Axonal Type 2u
|
Charcot-Marie-Tooth Neuropathy, Type 2u
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2u
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2u
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2u
|
Charcot-Marie-Tooth Neuropathy Type 2u
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Mars Mutation
|
Charcot-Marie-Tooth Disease 2u
|
|
|
Charcot-Marie-Tooth Disease Intermediate Type |
Intermediate Charcot-Marie-Tooth Disease
|
Charcot-Marie-Tooth Disease Dominant Intermediate
|
Charcot-Marie-Tooth Disease Recessive Intermediate
|
Intermediate Cmt
|
Intermediate Hereditary Motor And Sensory Neuropathy
|
Charcot-Marie-Tooth Disease, Intermediate Type
|
Charcot-Marie-Tooth, Intermediate
|
|
|
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
|
|
|
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
CMTDIF
|
Charcot-Marie-Tooth Disease Dominant Intermediate F
|
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type F
|
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, F
|
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type F
|
|
|
Pontocerebellar Hypoplasia, Type 6 |
Pontocerebellar Hypoplasia Type 6
|
PCH6
|
Fatal Infantile Encephalopathy With Mitochondrial Respiratory Chain Defects
|
Encephalopathy, Fatal Infantile, With Mitochondrial Respiratory Chain Defects
|
Encephalopathy Fatal Infantile With Mitochondrial Respiratory Chain Defects
|
Pontocerebellar Hypoplasia 6
|
Hypoplasia, Pontocerebellar, Type 6
|
|
|
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
|
|
|
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
MLASA2
|
Myopathy With Lactic Acidosis And Sideroblastic Anemia 2
|
Myopathy, Lactic Acidosis, And Sideroblastic Anemia, Type 2
|
|
|
Autosomal Dominant Distal Hereditary Motor Neuronopathy |
Autosomal Dominant Distal Hereditary Motor Neuropathy
|
Autosomal Dominant Dhmn
|
Autosomal Dominant Distal Spinal Muscular Atrophy
|
|
|
Cataract 4, Multiple Types |
Cataract 4 Multiple Types
|
CTRCT4
|
Cca3
|
Pcc
|
Aculeiform Cataract
|
Cataract 4, Multiple Types, With Or Without Microcornea
|
Cataract, Crystalline Aculeiform
|
Caca
|
Cataract, Congenital, Cerulean Type, 3
|
Congenital Cataract Cerulean Type 3
|
Cataract Congenital Dominant Non Nuclear
|
Ccp
|
Cataract, Nonnuclear Polymorphic Congenital
|
Cataract, Punctate, Progressive Juvenile-Onset
|
Cataract 4 Multiple Types With Or Without Microcornea
|
Autosomal Dominant Nonnuclear Polymorphic Congenital Cataract
|
Cataract, Polymorphic Congenital
|
Congenital Cataract Blue Dot Type 3
|
Congenital Non-Nuclear Polymorphic Cataract
|
Crystalline Aculeiform Cataract
|
Punctate, Progressive Juvenile-Onset, Cataract
|
Cataract, Nonnuclear Polymorphic Congenital, Autosomal Dominant
|
|
|
Perrault Syndrome |
Gonadal Dysgenesis, Xx Type, With Deafness
|
Ovarian Dysgenesis With Sensorineural Deafness
|
Gonadal Dysgenesis, Xx Type
|
Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
|
Xx Gonodal Dysgenesis-Deafness Syndrome
|
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
|
Gonadal Dysgenesis Xx Type Deafness
|
|
|
Microphthalmia |
Microphthalmos
|
Isolated Anophthalmia-Microphthalmia Syndrome
|
Isolated Microphthalmia-Anophthalmia-Coloboma
|
Simple Microphthalmos
|
Clinical Anophthalmia
|
Isolated Anophthalmia - Microphthalmia
|
Isolated Pure Microphthalmia
|
Mac Spectrum
|
Microphthalmia-Anophthalmia-Coloboma Spectrum
|
Primitive Anophthalmia
|
Globe Of Eye Small
|
Small Eyeball
|
Hypoplasia Of Eye
|
Isolated Nanophthalmos
|
Rudimentary Eye
|
Dysplasia Of Eye
|
|
|
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
|
|
|
Immune Deficiency Disease |
Immunodeficiency
|
Primary Immunodeficiency
|
Primary Immunodeficiency Disease
|
Immunologic Deficiency Syndromes
|
Hypoimmunity
|
Immune Deficiency Disorder
|
Immunodeficiency Syndrome
|
Immune Disorder
|
Primary Immune Deficiency Disorder
|
Immune System Diseases
|
Human Immunodeficiency Virus Infection
|
Hiv - [Human Immunodeficiency Virus Infection]
|
Hiv Positive Nos
|
Hiv Disease
|
Acquired Immune Deficiency Syndrome-Related Complex
|
Aids-Like Syndrome
|
Aids-Related Complex Nos
|
Arc - [Aids-Related Complex]
|
Immunodeficiency Due To Human Immunodeficiency Virus Infection
|
Unspecified Human Immunodeficiency Virus Disease
|
Hiv Disease Nos
|
Human Immunodeficiency Virus Positive Nos
|
Hiv Nos
|
Deficiency Of Complement Initial Pathway
|
Deficiency Of Complement Terminal Pathway
|
Cfdd - [Complement Factor D Deficiency]
|
Immunodeficiency With Nk-Cell - [Natural-Killer Cell] Deficiency
|
Nonfamilial Hypogammaglobulinaemia
|
Common Variable Immune Deficiency
|
Nonfamilial Agammaglobulinaemia
|
Common Variable Agammaglobulinaemia
|
Agammaglobulinaemia Nos
|
Agammaglobulinaemia Antibody Deficiency Syndrome
|
Hypogammaglobulinaemia Antibody Deficiency Syndrome
|
Acquired Agammaglobulinaemia Nos
|
Hypogammaglobulinaemia Nos
|
Hyper Igm
|
|
|
Autosomal Recessive Intellectual Developmental Disorder |
Mental Retardation, Autosomal Recessive
|
Autosomal Recessive Mental Retardation
|
Autosomal Recessive Non-Syndromic Mental Retardation
|
Autosomal Recessive Non-Syndromic Intellectual Disability
|
|
|
Pontocerebellar Hypoplasia |
Pch
|
Congenital Pontocerebellar Hypoplasia
|
Opch
|
Hypoplasia, Pontocerebellar
|
Pontoneocerebellar Hypoplasia
|
Nonsyndromic Pontocerebellar Hypoplasia
|
|
|
Neuromuscular Disease |
Neuromuscular Diseases
|
Neuromuscular Disorders
|
Neuromuscular Disorder
|
|
|
Spastic Ataxia |
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|