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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Genetic Diseases, X-Linked (D040181)
Parent Node: Hereditary Sensory and Autonomic Neuropathies (D009477)
..Starting node ..Neuropathy, Hereditary Sensory, X-Linked (C564090)
Child Nodes:
Sister Nodes:
..Cervical hypertrichosis neuropathy (C537956)
..Dysautonomia, Familial (D004402) 1
..Hamanishi Ueba Tsuji syndrome (C535624)
..Hereditary Sensory and Autonomic Neuropathy Type Ie (C580162)
..Neuropathy, Hereditary Sensory and Autonomic, Adult-Onset, with Anosmia (C563870)
..Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux (C564296)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA (OMIM:162400)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC (OMIM:613640)
..NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
..Neuropathy, Hereditary Sensory And Autonomic, Type IIB (C567738)
..Neuropathy, Hereditary Sensory, X-Linked (C564090)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

8006

Name:

Neuropathy, Hereditary Sensory, X-Linked

Definition:

Alternative IDs:

ParentIDs:

MESH:D009477|MESH:D040181

TreeNumbers:

C10.114.750.137/C564090 |C10.314.750.600/C564090 |C10.500.310/C564090 |C10.574.500.496/C564090 |C10.668.829.800.625/C564090 |C10.668.829.800.750.450/C564090 |C16.131.666.310/C564090 |C16.320.322/C564090 |C16.320.400.415/C564090 |C20.111.258.750.600/C564090

Synonyms:

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Immune system disease|Nervous system disease

Reference:

MedGen: C564090
MeSH: C564090
OMIM: 310470;

Genes:

Phenotypes

1	HP:0001417	X-linked inheritance
2	HP:0003380	Decreased number of peripheral myelinated nerve fibers
3	HP:0000763	Sensory neuropathy

Disease Causing ClinVar Variants