DiseaseID 3610

遗传性感觉和自主神经病Ⅳ型

disease

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Disease: 1Formula: 5Herb: 12Symptom: 12Target: 24Links: 53

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Record Fields

Scalar fields from the final disease record.

Disease Id: 3610
Core Entity Id: 59836
Source Entity Count: 1
Preferred Name: Hsan Type Iv
Name Cn: 遗传性感觉和自主神经病Ⅳ型
Name Pinyin: Yi Chuan Xing Gan Jue He Zi Zhu Shen Jing Bing Ⅳ Xing
Name En: Hsan Type Iv
Name Latin
Bilingual Status: complete
Disease Type: disease
Umls Disease Type: Disease or Syndrome
Disgenet Type: disease
Mesh Class: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Do Class: disease of anatomical entitydisease of anatomical entity; genetic disease
Hpo Class: Abnormality of the nervous system
Mesh Class Name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases
Hpo Class Name: Abnormality of the nervous system
Do Class Name: disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Definition: Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and
Version: v1
Suppressed: No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name

Hsan Type Iv

Role

preferred

Name

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y

Role

preferred

Name

Charcot-Marie-Tooth Disease

Role

preferred

Name

Charcot-Marie-Tooth Disease And Deafness

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2A1

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2K

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2N

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2O

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2P

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2Q

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2R

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2U

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2Y

Role

preferred

Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1B

Role

preferred

Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1F

Role

preferred

Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 4F

Role

preferred

Name

Charcot-Marie-Tooth Disease, Dominant Intermediate C

Role

preferred

Name

Charcot-Marie-Tooth Disease, Dominant Intermediate D

Role

preferred

Name

Charcot-Marie-Tooth Disease, Dominant Intermediate E

Role

preferred

Name

Charcot-Marie-Tooth Disease, Dominant Intermediate F

Role

preferred

Name

Charcot-Marie-Tooth Disease, Recessive Intermediate B

Role

preferred

Name

Charcot-Marie-Tooth Disease, Recessive Intermediate C

Role

preferred

Name

Charcot-Marie-Tooth Disease, Recessive Intermediate D

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4B1

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4B2

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4B3

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4C

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4D

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4H

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4J

Role

preferred

Name

Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 (Disorder)

Role

preferred

Name

Hereditary Motor And Sensory Neuropathies

Role

preferred

Name

Hereditary Sensory And Autonomic Neuropathies

Role

preferred

Name

Hypertrophic Neuropathy Of Dejerine-Sottas

Role

preferred

Name

Indifference To Pain, Congenital, Autosomal Recessive

Role

preferred

Name

Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive

Role

preferred

Name

Neuropathy, Hereditary Motor And Sensory, Okinawa Type

Role

preferred

Name

Neuropathy, Hereditary Motor And Sensory, Russe Type

Role

preferred

Name

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Role

preferred

Name

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Role

preferred

Name

X-Linked Charcot-Marie-Tooth Disease Type 4

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2 (disorder)

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder)

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L (disorder)

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B (disorder)

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6

Role

preferred

Name

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5

Role

preferred

Name

COWCHOCK SYNDROME

Role

preferred

Name

Charcot-Marie-Tooth Disease Type 4B3

Role

preferred

Name

Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K

Role

preferred

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2E (Disorder)

Role

preferred

Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1E

Role

preferred

Name

Charcot-Marie-Tooth Disease, Dominant Intermediate A

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 1C

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 1D (Disorder)

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 1E

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 2B1

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 2B2

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 2D

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 2I

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 2J

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4B2, With Early-Onset Glaucoma

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type 4E

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type Ia (Disorder)

Role

preferred

Name

Charcot-Marie-Tooth Disease, Type Ib

Role

preferred

Name

Charcot-Marie-Tooth Disease, X-Linked, 1

Role

preferred

Name

Charcot-Marie-Tooth Neuropathy, Type 4B2, With Early-Onset Glaucoma

Role

preferred

Name

Congenital Hypomyelinating Neuropathy

Role

preferred

Name

Congenital Pain Insensitivity

Role

preferred

Name

Corpus Callosum Agenesis Neuronopathy

Role

preferred

Name

Corpus Callosum Agenesis-Neuronopathy Syndrome

Role

preferred

Name

Dejerine-Sottas Disease (Disorder)

Role

preferred

Name

Giant Axonal Neuropathy

Role

preferred

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)

Role

preferred

Name

Hereditary Motor And Sensory Neuropathy Type I

Role

preferred

Name

Hereditary Motor And Sensory Neuropathy, Types I-Iv

Role

preferred

Name

Hereditary Motor And Sensory-Neuropathy Type Ii

Role

preferred

Name

Hereditary Neuropathy With Liability To Pressure Palsies

Role

preferred

Name

Hereditary Peripheral Neuropathy

Role

preferred

Name

Hereditary Sensory And Autonomic Neuropathy Type 2

Role

preferred

Name

Hereditary Sensory And Autonomic Neuropathy Type 4

Role

preferred

Name

Hereditary Sensory Autonomic Neuropathy, Type 1

Role

preferred

Name

Hereditary Sensory Autonomic Neuropathy, Type 2

Role

preferred

Name

Hereditary Sensory Autonomic Neuropathy, Type 5

Role

preferred

Name

Hereditary Sensory Radicular Neuropathy

Role

preferred

Name

Hereditary, Type VII, Motor and Sensory Neuropathy

Role

preferred

Name

Hypertrophic Neuropathy of Infancy

Role

preferred

Name

NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL DOMINANT

Role

preferred

Name

NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE

Role

preferred

Name

NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID

Role

preferred

Name

Peroneal Muscular Atrophy (Axonal Type) (Hypertrophic Type)

Role

preferred

Name

Roussy-Levy Syndrome (Disorder)

Role

preferred

Name

Roussy-Lévy Syndrome

Role

preferred

Name

SURF1-related Charcot-Marie-Tooth disease type 4

Role

preferred

Name

Sensory Neuropathy

Role

preferred

Name

Sensory Neuropathy, Hereditary

Role

preferred

Name

X-Linked Charcot-Marie-Tooth Disease Type 1

Role

preferred

Name

ACROOSTEOLYSIS, GIACCAI TYPE

Role

alias

Name

ACROOSTEOLYSIS, NEUROGENIC

Role

alias

Name

ASYMBOLIA FOR PAIN

Role

alias

Name

Agenesis of The Corpus Callosum With Peripheral Neuropathy

Role

alias

Name

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To VCP Mutation

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4G

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4H

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, TYPE 4J

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL RECESSIVE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B1

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A1

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Q

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2K

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2G, FORMERLY

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4C

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4D

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4H

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A1

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, TYPE 3

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4G

Role

alias

Name

CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, AUTOSOMAL RECESSIVE, TYPE 4B2

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY AND DEAFNESS, AUTOSOMAL DOMINANT

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2K

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE D

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE B

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A1

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2P

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B1

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4C

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4D

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4E

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4G

Role

alias

Name

CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4H

Role

alias

Name

CHN

Role

alias

Name

CIP

Role

alias

Name

CMT1B

Role

alias

Name

CMT1E

Role

alias

Name

CMT1F

Role

alias

Name

CMT2 Due To VCP Mutation

Role

alias

Name

CMT2A1

Role

alias

Name

CMT2A2

Role

alias

Name

CMT2A2A

Role

alias

Name

CMT2G, FORMERLY

Role

alias

Name

CMT2K

Role

alias

Name

CMT2N

Role

alias

Name

CMT2O

Role

alias

Name

CMT2P

Role

alias

Name

CMT2Q

Role

alias

Name

CMT2R

Role

alias

Name

CMT2U

Role

alias

Name

CMT2Y

Role

alias

Name

CMT3

Role

alias

Name

CMT4B

Role

alias

Name

CMT4B1

Role

alias

Name

CMT4B2

Role

alias

Name

CMT4B3

Role

alias

Name

CMT4C

Role

alias

Name

CMT4D

Role

alias

Name

CMT4E

Role

alias

Name

CMT4F

Role

alias

Name

CMT4G

Role

alias

Name

CMT4H

Role

alias

Name

CMT4J

Role

alias

Name

CMT4X

Role

alias

Name

CMTDIC

Role

alias

Name

CMTDID

Role

alias

Name

CMTDIE

Role

alias

Name

CMTDIF

Role

alias

Name

CMTRIB

Role

alias

Name

CMTRIC

Role

alias

Name

CMTRID

Role

alias

Name

CMTX4

Role

alias

Name

CONGENITAL ANALGESIA, AUTOSOMAL RECESSIVE

Role

alias

Name

Charcot Marie Tooth Disease, Type Ib

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2C

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2F

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2H

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2K

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2L

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2N

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2O

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2P

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2Q

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2T

Role

alias

Name

Charcot-Marie-Tooth Disease Axonal Type 2U

Role

alias

Name

Charcot-Marie-Tooth Disease Dominant Intermediate A

Role

alias

Name

Charcot-Marie-Tooth Disease Dominant Intermediate B

Role

alias

Name

Charcot-Marie-Tooth Disease Dominant Intermediate C

Role

alias

Name

Charcot-Marie-Tooth Disease Dominant Intermediate D

Role

alias

Name

Charcot-Marie-Tooth Disease Dominant Intermediate E

Role

alias

Name

Charcot-Marie-Tooth Disease Dominant Intermediate F

Role

alias

Name

Charcot-Marie-Tooth Disease Recessive Intermediate B

Role

alias

Name

Charcot-Marie-Tooth Disease Recessive Intermediate C

Role

alias

Name

Charcot-Marie-Tooth Disease Recessive Intermediate D

Role

alias

Name

Charcot-Marie-Tooth Disease Type 1A

Role

alias

Name

Charcot-Marie-Tooth Disease Type 1B

Role

alias

Name

Charcot-Marie-Tooth Disease Type 1C

Role

alias

Name

Charcot-Marie-Tooth Disease Type 1D

Role

alias

Name

Charcot-Marie-Tooth Disease Type 1E

Role

alias

Name

Charcot-Marie-Tooth Disease Type 1F

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2A1

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2A2

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2B

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2B1

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2B2

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2D

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2E

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2I

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2J

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2R

Role

alias

Name

Charcot-Marie-Tooth Disease Type 2Y

Role

alias

Name

Charcot-Marie-Tooth Disease Type 3

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4A

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4B1

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4B2

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4C

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4D

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4E

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4F

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4G

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4H

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4J

Role

alias

Name

Charcot-Marie-Tooth Disease Type 4K

Role

alias

Name

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Role

alias

Name

Charcot-Marie-Tooth Disease X-Linked Dominant 6

Role

alias

Name

Charcot-Marie-Tooth Disease X-Linked Recessive 2

Role

alias

Name

Charcot-Marie-Tooth Disease X-Linked Recessive 3

Role

alias

Name

Charcot-Marie-Tooth Disease X-Linked Recessive 4

Role

alias

Name

Charcot-Marie-Tooth Disease X-Linked Recessive 5

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2B1

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2B2

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2B

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2B1

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2B2

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2D

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2E

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2I

Role

alias

Name

Charcot-Marie-Tooth Disease, Axonal, Type 2J

Role

alias

Name

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4A

Role

alias

Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1A

Role

alias

Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1C

Role

alias

Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1D

Role

alias

Name

Charcot-Marie-Tooth Disease, Dominant Intermediate B

Role

alias

Name

Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities

Role

alias

Name

Charcot-Marie-Tooth Disease, Type 2F

Role

alias

Name

Charcot-Marie-Tooth Disease, Type 2K

Role

alias

Name

Charcot-Marie-Tooth Disease, Type Ia

Role

alias

Name

Charcot-Marie-Tooth Disease, X-Linked Recessive, 3

Role

alias

Name

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4K

Role

alias

Name

Charcot-Marie-Tooth Neuropathy, Type 1C

Role

alias

Name

Charcot-Marie-Tooth Neuropathy, Type 2I

Role

alias

Name

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 3

Role

alias

Name

Cipa

Role

alias

Name

Cmt 2B

Role

alias

Name

Cmt 2E

Role

alias

Name

Cmt2L

Role

alias

Name

Corpus Callosum, Agenesis Of, With Neuronopathy

Role

alias

Name

DEJERINE-SOTTAS NEUROPATHY

Role

alias

Name

DEJERINE-SOTTAS SYNDROME

Role

alias

Name

DI-CMTC

Role

alias

Name

DI-CMTD

Role

alias

Name

DSN

Role

alias

Name

DSS

Role

alias

Name

Damage To Nerves That Sense Feeling

Role

alias

Name

Dejerine-Sottas Disease

Role

alias

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY I

Role

alias

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY IB

Role

alias

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA1

Role

alias

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY IIA2

Role

alias

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III

Role

alias

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE, FORMERLY

Role

alias

Name

HEREDITARY MOTOR AND SENSORY NEUROPATHY, RUSSE TYPE

Role

alias

Name

HMSN I

Role

alias

Name

HMSN IB

Role

alias

Name

HMSN IIA1

Role

alias

Name

HMSN IIA2

Role

alias

Name

HMSN1

Role

alias

Name

HMSN1B

Role

alias

Name

HMSN2A1

Role

alias

Name

HMSN2A2

Role

alias

Name

HMSN3

Role

alias

Name

HMSN4D

Role

alias

Name

HMSNL

Role

alias

Name

HMSNO

Role

alias

Name

HMSNP, FORMERLY

Role

alias

Name

HMSNR

Role

alias

Name

HSAN IIA

Role

alias

Name

HSAN2A

Role

alias

Name

HSAN2B

Role

alias

Name

HSAN2D

Role

alias

Name

HSN IIA

Role

alias

Name

HSN2A

Role

alias

Name

HYPOMYELINATION, SEVERE CONGENITAL

Role

alias

Name

Hereditary Areflexic Dystasia

Role

alias

Name

Hereditary Motor And Sensory Neuropathy

Role

alias

Name

Hereditary Motor And Sensory Neuropathy, Type Iic

Role

alias

Name

Hereditary Motor And Sensory Neuropathy, X-Linked

Role

alias

Name

Hereditary Motor, And Sensory Neuropathy Type I

Role

alias

Name

Hereditary Sensory And Autonomic Neuropathy Type 1

Role

alias

Name

Hereditary Sensory And Autonomic Neuropathy Type 1A

Role

alias

Name

Hereditary Sensory And Autonomic Neuropathy Type 2A

Role

alias

Name

Hereditary Sensory And Autonomic Neuropathy Type 2B

Role

alias

Name

Hereditary Sensory And Autonomic Neuropathy Type 5

Role

alias

Name

Hereditary Sensory And Motor Neuropathy

Role

alias

Name

Hereditary Sensory Neuropathy Type 4

Role

alias

Name

Hmsn Iic

Role

alias

Name

Hmsn2B

Role

alias

Name

Hmsnid

Role

alias

Name

Hmsniia2

Role

alias

Name

Hsan1

Role

alias

Name

INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED

Role

alias

Name

Insensitivity To Pain, Congenital

Role

alias

Name

Insensitivity To Pain, Congenital, With Anhidrosis

Role

alias

Name

MORVAN DISEASE

Role

alias

Name

Motor Peripheral Neuropathy

Role

alias

Name

NEUROPATHY, CONGENITAL HYPOMYELINATING, AUTOSOMAL DOMINANT

Role

alias

Name

NEUROPATHY, CONGENITAL SENSORY

Role

alias

Name

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE

Role

alias

Name

NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE

Role

alias

Name

NEUROPATHY, HEREDITARY SENSORY, TYPE IIA

Role

alias

Name

NEUROPATHY, PROGRESSIVE SENSORY, OF CHILDREN

Role

alias

Name

Neuropathy, Congenital Hypomyelinating

Role

alias

Name

Neuropathy, Hereditary Motor And Sensory, With Deafness, Mental Retardation, And Absent Sensory Large Myelinated Fibers

Role

alias

Name

Neuropathy, Hereditary Sensory And Autonomic, Type Ia

Role

alias

Name

Neuropathy, Hereditary Sensory And Autonomic, Type V

Role

alias

Name

Optic Atrophy Polyneuropathy Deafness

Role

alias

Name

Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive

Role

alias

Name

PERONEAL MUSCULAR ATROPHY

Role

alias

Name

Pain Insensitivity, Congenital

Role

alias

Name

Peripheral Sensory Neuropathy

Role

alias

Name

RI-CMTB

Role

alias

Name

RI-CMTC

Role

alias

Name

Roussy-Levy Hereditary Areflexic Dystasia

Role

alias

Name

Sensory Peripheral Neuropathy

Role

alias

Cross References

Trusted external identifiers retained for this final record.

Hpo

HP:0000763

Herb

HBDIS000135HBDIS000525HBDIS000725HBDIS001389HBDIS001397HBDIS001398HBDIS001399HBDIS001400HBDIS002122HBDIS002123HBDIS003398HBDIS003538HBDIS004291HBDIS006523HBDIS006524HBDIS006525HBDIS006526HBDIS008628HBDIS008728HBDIS008730HBDIS010657HBDIS011138HBDIS011653HBDIS011661HBDIS014190HBDIS014191HBDIS015048HBDIS015057HBDIS015070HBDIS015152HBDIS015421HBDIS015438HBDIS015591HBDIS015770HBDIS015923HBDIS015984HBDIS015993HBDIS016003HBDIS016010HBDIS016153HBDIS016414HBDIS016423HBDIS016424HBDIS016978HBDIS017015HBDIS017016HBDIS017038HBDIS017210HBDIS017524HBDIS017525HBDIS017526HBDIS017626HBDIS017884HBDIS017886HBDIS018323HBDIS018796HBDIS019840HBDIS020004HBDIS020077HBDIS020332HBDIS021278HBDIS021349HBDIS021354HBDIS021517HBDIS021633HBDIS021847HBDIS021887HBDIS022239HBDIS022337HBDIS022777HBDIS022978HBDIS023081HBDIS023138HBDIS025669HBDIS025671HBDIS027692HBDIS027761HBDIS027762HBDIS027805HBDIS028142HBDIS028843HBDIS028845HBDIS028847HBDIS028966HBDIS029193HBDIS029265HBDIS029434HBDIS029495HBDIS029815

Me Sh

D000699D002607D009477D015417

Omim

118200118210118220118300145900162400180800201300214370214400218000243000256800258650300905302800311070600882601098601382601455601472601596604563605253605588605589606071606482606595607677607678607684607734607736607791607831608323608654608673609260609311611228613115613287613641614228614436614455614895615025615185615284615376615490616039616280616684616687617017

Umls

C0007959C0011195C0020072C0020074C0027888C0027889C0205713C0270912C0270914C0393808C0393814C0393818C0751036C0751540C0795910C0795950C1832334C1832399C1836336C1836485C1839566C1842237C1842983C1842984C1843075C1843164C1844865C1847823C1854449C1855739C1858278C1858279C1858280C1858338C1861678C1866636C1970011C2750090C2751092C2752089C3150897C3280220C3280797C3280845C3495591C3540453C3551756C3554366C3554654C3695063C3809309C3809655C4012054C4015029C4084821C4225244

Icd10

G60.0G60.8

Med Dra

10069382

Sym Map

SMDE00008SMDE00175SMDE00418SMDE00582SMDE00604SMDE00814SMDE00920SMDE01011SMDE01355SMDE01443SMDE01636SMDE01658SMDE01884SMDE02154SMDE02156SMDE02363SMDE02398SMDE02502SMDE03015SMDE03029SMDE03172SMDE03189SMDE03217SMDE03307SMDE03320SMDE03462SMDE03483SMDE03504SMDE03639SMDE03666SMDE03848SMDE03875SMDE04013SMDE04015SMDE04032SMDE04033SMDE04066SMDE04239SMDE04408SMDE04463SMDE04491SMDE04795SMDE05024SMDE05075SMDE05099SMDE05196SMDE06937SMDE06939SMDE09424SMDE09425SMDE09435SMDE09436

Do Class

DOID:630DOID:7

Dis Ge Net

C0002768C0007959C0011195C0019816C0020071C0020072C0020074C0020075C0027888C0027889C0086405C0151313C0205713C0270911C0270912C0270913C0270914C0392553C0393808C0393818C0699739C0751036C0795910C0795950C1408174C1408182C1832274C1832334C1832399C1833219C1836336C1836485C1837552C1839566C1842237C1842983C1842984C1843075C1843153C1843164C1843225C1843247C1844865C1847823C1847896C1847902C1853710C1854150C1854154C1854449C1855739C1858278C1858279C1858280C1858338C1859198C1861669C1861678C1866636C1970011C2750090C2751092C2752089C2875300C2931686C3150897C3280220C3280797C3280845C3495591C3540453C3554366C3554654C3695063C3806702C3809309C3809655C3888087C4012054C4015029C4015635C4084821C4225244C4225246C4706465C4721436C4721437C4721887C4749147

Orphanet

101075101078149631154353876406426439709901499940

Umls Sty

T033T047

Hpo Class

HP:0000707

Me Sh Class

C05C09C10C11C16C18C23

Etcm Disease

Charcot-Marie-Tooth Disease and DeafnessCharcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2aCharcot-Marie-Tooth Disease, Axonal, Type 2a1Charcot-Marie-Tooth Disease, Axonal, Type 2fCharcot-Marie-Tooth Disease, Axonal, Type 2kCharcot-Marie-Tooth Disease, Axonal, Type 2nCharcot-Marie-Tooth Disease, Axonal, Type 2oCharcot-Marie-Tooth Disease, Axonal, Type 2pCharcot-Marie-Tooth Disease, Axonal, Type 2qCharcot-Marie-Tooth Disease, Axonal, Type 2rCharcot-Marie-Tooth Disease, Axonal, Type 2tCharcot-Marie-Tooth Disease, Axonal, Type 2uCharcot-Marie-Tooth Disease, Demyelinating, Type 1bCharcot-Marie-Tooth Disease, Demyelinating, Type 1fCharcot-Marie-Tooth Disease, Demyelinating, Type 4fCharcot-Marie-Tooth Disease, Dominant Intermediate CCharcot-Marie-Tooth Disease, Dominant Intermediate DCharcot-Marie-Tooth Disease, Dominant Intermediate ECharcot-Marie-Tooth Disease, Dominant Intermediate FCharcot-Marie-Tooth Disease, Dominant Intermediate aCharcot-Marie-Tooth Disease, Recessive Intermediate BCharcot-Marie-Tooth Disease, Recessive Intermediate CCharcot-Marie-Tooth Disease, Recessive Intermediate DCharcot-Marie-Tooth Disease, Type 4b1Charcot-Marie-Tooth Disease, Type 4b2Charcot-Marie-Tooth Disease, Type 4b3Charcot-Marie-Tooth Disease, Type 4cCharcot-Marie-Tooth Disease, Type 4dCharcot-Marie-Tooth Disease, Type 4hCharcot-Marie-Tooth Disease, Type 4jCharcot-Marie-Tooth Disease, X-Linked Dominant, 6Charcot-Marie-Tooth Disease, X-Linked Recessive, 5Hypertrophic Neuropathy of Dejerine-SottasIndifference to Pain, Congenital, Autosomal Recessive

Tcmbank Disease

103231034410591107851176611899120161206121371272129831300013387136471405514463145011525215306153101533515910161641816571783717974181411819018282184751924319276194119752201132022120452208672134121399216742230022834229052490725666260142609726191263982710027174272502731282262916330345307063072630741308543093031273159731737318013188932388442551235275695569867217734573478606893090729901

Itcmdb Generated

ITX-DISEASE-07F85C80BD37ITX-DISEASE-080B694D1E0AITX-DISEASE-08BA90DB59D6ITX-DISEASE-0E4888656379ITX-DISEASE-2125A7E5ECFEITX-DISEASE-2229491B5075ITX-DISEASE-26DA76152905ITX-DISEASE-2D471ADC93EDITX-DISEASE-2E4F6EBCB873ITX-DISEASE-3A0506694D0CITX-DISEASE-3BC67B5E77C9ITX-DISEASE-46E140E17B24ITX-DISEASE-5AEB6ECD9CCCITX-DISEASE-5E53EEF61703ITX-DISEASE-6C6AF23D2897ITX-DISEASE-7FE9B1687C60ITX-DISEASE-8156E63B63FBITX-DISEASE-87FAE51CE18EITX-DISEASE-8A573AFB3CD9ITX-DISEASE-8D0AD71C6B1DITX-DISEASE-9001FE14FA61ITX-DISEASE-907A1576BF1FITX-DISEASE-9774F43482DCITX-DISEASE-9814D48BF377ITX-DISEASE-9B8B64AA1228ITX-DISEASE-A23FA2A6CDB4ITX-DISEASE-A707A6408415ITX-DISEASE-A75C6EB259DCITX-DISEASE-A87FCCD3BEE7ITX-DISEASE-A8A0561C70C5ITX-DISEASE-A8BAA832F2C0ITX-DISEASE-AECC9C8BD32DITX-DISEASE-AEF9FFAD7279ITX-DISEASE-C97701ECD1B8ITX-DISEASE-CC0CF0070F7EITX-DISEASE-D3CB1E33DD71ITX-DISEASE-D42745A12631ITX-DISEASE-D91478DAA4EAITX-DISEASE-DDF429838B26ITX-DISEASE-DE58A00C8722ITX-DISEASE-E0AFABBFD209ITX-DISEASE-E6C9F664DC4EITX-DISEASE-EBFBFE733C9FITX-DISEASE-EE674B619F31

Attributes

Merged source attributes and domain-specific metadata.

Version

v1v1,v2v2

Suppress

Page Title

Disease Charcot-Marie-Tooth Disease and Deafness Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2f Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2k Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2n Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2o Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2p Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2q Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2r Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2t Details pageDisease Charcot-Marie-Tooth Disease, Axonal, Type 2u Details pageDisease Charcot-Marie-Tooth Disease, Demyelinating, Type 1b Details pageDisease Charcot-Marie-Tooth Disease, Demyelinating, Type 1f Details pageDisease Charcot-Marie-Tooth Disease, Demyelinating, Type 4f Details pageDisease Charcot-Marie-Tooth Disease, Dominant Intermediate C Details pageDisease Charcot-Marie-Tooth Disease, Dominant Intermediate D Details pageDisease Charcot-Marie-Tooth Disease, Dominant Intermediate E Details pageDisease Charcot-Marie-Tooth Disease, Dominant Intermediate F Details pageDisease Charcot-Marie-Tooth Disease, Dominant Intermediate a Details pageDisease Charcot-Marie-Tooth Disease, Recessive Intermediate B Details pageDisease Charcot-Marie-Tooth Disease, Recessive Intermediate C Details pageDisease Charcot-Marie-Tooth Disease, Recessive Intermediate D Details pageDisease Charcot-Marie-Tooth Disease, Type 4b1 Details pageDisease Charcot-Marie-Tooth Disease, Type 4b2 Details pageDisease Charcot-Marie-Tooth Disease, Type 4b3 Details pageDisease Charcot-Marie-Tooth Disease, Type 4c Details pageDisease Charcot-Marie-Tooth Disease, Type 4d Details pageDisease Charcot-Marie-Tooth Disease, Type 4h Details pageDisease Charcot-Marie-Tooth Disease, Type 4j Details pageDisease Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 Details pageDisease Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 Details pageDisease Hypertrophic Neuropathy of Dejerine-Sottas Details pageDisease Indifference to Pain, Congenital, Autosomal Recessive Details page

Do Class Name

disease of anatomical entitygenetic disease; disease of anatomical entity

Disease Type

diseasegroupphenotype

Hpo Class Name

Abnormality of the nervous system

Do Disease Class

disease of anatomical entitydisease of anatomical entity; genetic disease

Hpo Disease Class

Abnormality of the nervous system

Umls Disease Type

Disease or SyndromeFinding

Basic Information

Disease Name

Charcot-Marie-Tooth Disease and Deafness

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Ear diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2a1

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2f

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2k

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2n

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2o

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2p

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2q

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2r

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2t

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Axonal, Type 2u

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Neuronal diseases;Skin diseases

Disease Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Muscle diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Muscle diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Global Category

Fetal diseases;Genetic diseases;Rare diseases

Anatomical Category

Muscle diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Dominant Intermediate C

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Dominant Intermediate D

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Dominant Intermediate E

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Dominant Intermediate F

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Dominant Intermediate a

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Recessive Intermediate B

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Recessive Intermediate C

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Recessive Intermediate D

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Type 4b1

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Type 4b2

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Type 4b3

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Type 4c

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Type 4d

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Type 4h

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, Type 4j

Global Category

Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Eye diseases;Muscle diseases;Nephrological diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, X-Linked Dominant, 6

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Ear diseases;Eye diseases;Mental diseases;Muscle diseases;Neuronal diseases

Disease Name

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

Global Category

Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases

Anatomical Category

Ear diseases;Eye diseases;Mental diseases;Muscle diseases;Neuronal diseases

Disease Name

Hypertrophic Neuropathy of Dejerine-Sottas

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Name

Indifference to Pain, Congenital, Autosomal Recessive

Global Category

Genetic diseases;Rare diseases

Anatomical Category

Neuronal diseases

Disease Definition

Corpus callosum agenesis-neuropathy is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy andGiant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (incluHereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.Hereditary sensory and autonomic neuropathy, type 2 (HSAN2) is an inherited disorder characterized by profound and universal sensory loss involving large and small fiber nerves, and marked hypotonia.Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.MSH2017_2016_08_12:A group of inherited disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and clinically by loss of sensation and autonomic dysfunction. There are five subtypes. Type I features autosomal dominant inheritance and distal sensory involvement. Type II is characterized by autosomal inheritance and distal and proximal sensory loss. Type III is DYSAUTONOMIA, FAMILIAL. Type IV features insensitivity to pain, heat intolerance, and mental deficiency. Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (From Joynt, Clinical Neurology, 1995, Ch51, pp142-4)MSH2017_2016_08_12:A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)|CSP2006:group of peripheral nervous system hereditary disorders with varying course, symptoms, neuropathology, and genetics, but generally involving gradual loss of nerve conduction, distal wasting, deformity, and disability.NCI2016_02D:An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.|MSH2017_2016_08_12:A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)|MEDLINEPLUS_20151021:Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. CMT affects your <a href='https://www.nlm.nih.gov/medlineplus/peripheralnervedisorders.html'>peripheral nerves</a>. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak. Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. NIH: National Institute of Neurological Disorders and Stroke|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damage|CHV2011_02:a progressive hereditary disorder that causes nerve damageSNOMEDCT_US_2016_09_01:An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidemia, and diabetes mellitus.|SNOMEDCT_US_2016_09_01:An autosomal dominant form of hereditary motor and sensory neuropathy with dominant proximal involvement. Manifestations include adult-onset proximal neurogenic atrophy, sensory involvement, painful muscle cramps, fasciculations, areflexia, and high incidences of elevated creatine kinase levels, hyperlipidaemia, and diabetes mellitus.SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease type 4D (CMT4D) is a severe form of Charcot-Marie-Tooth disease type 4, a demyelinating hereditary motor and sensory neuropathy. Main features described as gait disorder manifesting in the first decade of life, followed by upper limb involvement observed in the second decade and sensorineural deafness usually manifesting in the second or third decade of life. CMT4D was first reported in the Bulgarian Romani community of Lom and to date, has mainly been associated with the Roma population. CMT4D is caused by a single ancestral mutation (p.R148X) in the NDRG1 gene (8q24) coding for the NDRG1 protein that has a role in the peripheral nervous system, possibly in Schwann cell signaling necessary for axonal survival. Transmission is autosomal recessive.SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease, type 4B1 (CMT4B1) is a severe early-onset demyelinating CMT peripheral sensorimotor polyneuropathy. It was initially described in an Italian family and around 10 additional families have been described so far. Onset occurs during early childhood with distal and proximal muscular weakness starting in the lower extremities, sensory loss and cranial nerve involvement. Foot deformities are frequent and diaphragmatic and facial involvement has been reported. CMT4B1 is caused by mutations in the gene encoding myotubularin-related protein 2 (MTMR2; 11q22), involved in polyphosphoinositide signaling. Transmitted in an autosomal recessive manner.SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease, type 4C (CMT4C) is a demyelinating CMT peripheral sensorimotor polyneuropathy with early-onset scoliosis or kyphoscoliosis. CMT4C is a relatively frequent form of CMT4: it was first described in Algeria but families have since been reported from Morocco, Mediterranean countries and from Germany, the Netherlands and France. Scoliosis may be the inaugural feature of the disease, with onset usually occurring in childhood. CMT4C is caused by mutations in the SH3TC2 gene (5q32). Transmitted in an autosomal recessive manner.SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease, type 4G (CMT4G) is a demyelinating CMT peripheral sensorimotor polyneuropathy. Onset occurs between 8 and 16 years of age with distal lower limb weakness, followed by distal upper limb involvement with a more variable age of onset of between 10 and 43 years. Sensory loss is also a prominent feature. The disease-causing gene has not yet been identified but linkage analysis and recombination mapping have led to identification of a small interval on 10q23.2. Transmitted in an autosomal recessive manner.SNOMEDCT_US_2016_09_01:Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy. It has been described in 10 individuals from two large consanguineous families from Lebanon and Algeria. Onset occurs within the first two years of life with slowly progressive muscle weakness in the distal extremities. Other common features include delayed walking, an abnormal gait, scoliosis and pes equines with toe retraction. CMT4H is caused by mutations in the FGD4 gene (12p11.1). Transmitted in an autosomal recessive manner.X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first dX-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childho

Me Sh Disease Class

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Musculoskeletal DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsOtorhinolaryngologic Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms

Dis Ge Net Disease Type

diseasegroupphenotype

Disease Class Name Me Sh

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesNervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases

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Disease or SyndromeFinding