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:
expandHand Deformities, Congenital (D006228)
Parent Node:
expandMuscular Diseases (D009135)
Parent Node:
expandPolyneuropathies (D011115)
..Starting node
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)

       Child Nodes:



 Sister Nodes: 
..expand46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy (C567773)
..expandAlcoholic Neuropathy (D020269)
..expandAplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy (C565945)
..expandAtaxia and Polyneuropathy, Adult-Onset (C564020)
..expandDeafness, Sensorineural, with Peripheral Neuropathy and Arterial Disease (C565120)
..expandHereditary Sensory and Autonomic Neuropathies (D009477) Child12
..expandHereditary Sensory and Motor Neuropathy (D015417) Child164
..expandLaryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy (C565252)
..expandLEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY (OMIM:613724)
..expandLeukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient (C566654)
..expandNeuropathy, Hereditary Sensory, Atypical (C564946)
..expandOptic atrophy polyneuropathy deafness (C537129)
..expandParaneoplastic Polyneuropathy (D020364)
..expandPeripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease (C563789)
..expandPOEMS Syndrome (D016878)
..expandPolyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract (C567203)
..expandPolyradiculoneuropathy (D011129) Child18
..expandRibose 5-Phosphate Isomerase Deficiency (C563212)
..expandSevere infantile axonal neuropathy (C537593)
..expandTangier Disease (D013631)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:821
Name:Aplasia of Extensor Muscles of Fingers, Unilateral, with Generalized Polyneuropathy
Definition:
Alternative IDs:
ParentIDs:MESH:D006228|MESH:D009135|MESH:D011115
TreeNumbers:C05.390.408/C565945 |C05.651/C565945 |C05.660.585.988.425/C565945 |C10.668.491/C565945 |C10.668.829.800/C565945 |C16.131.621.585.425/C565945
Synonyms:
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C565945
MeSH: C565945
OMIM: 207740;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003011Abnormality of the musculature
3 HP:0000966Hypohidrosis
4 HP:0001271Polyneuropathy
Disease Causing ClinVar Variants