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:
expandHereditary Sensory and Motor Neuropathy (D015417)
Parent Node:
expandHypertrichosis (D006983)
..Starting node
..expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)

       Child Nodes:



 Sister Nodes: 
..expandAcromegaloid facial appearance syndrome (C535655)
..expandAmaurosis hypertrichosis (C536604)
..expandAmbras syndrome (C536605)
..expandBarber Say syndrome (C537908)
..expandCAHMR syndrome (C537959)
..expandCantu syndrome (C535572)
..expandCervical hypertrichosis neuropathy (C537956)
..expandCervical Hypertrichosis with Underlying Kyphoscoliosis (C566142)
..expandCongenital hypertrichosis lanuginosa (C538389)
..expandFacial Hypertrichosis (C565029)
..expandFibromatosis, Gingival, with Hypertrichosis and Mental Retardation (C565331)
..expandGorlin Chaudhry Moss syndrome (C537290)
..expandHairy Ears (C562484)
..expandHairy Ears, Y-Linked (C564029)
..expandHairy elbows (C535618)
..expandHairy nose tip (C535619)
..expandHypertrichosis congenital generalized X-linked (C538388)
..expandHypertrichosis Terminalis, Generalized, with or without Gingival Hyperplasia (C565016)
..expandHypertrichosis, anterior cervical (C538390)
..expandHypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy (C565492)
..expandHypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features (C538391)
..expandMidphalangeal hair (C537471)
..expandMuller Barth Menger syndrome (C537370)
..expandOliver-McFarlane syndrome (C536554)
..expandRamon Syndrome (C535285)
..expandSchaap Taylor Baraitser syndrome (C536626)
..expandWiedemann Grosse Dibbern syndrome (C536704)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:5509
Name:Hypertrichosis, Congenital Anterior Cervical, with Peripheral Sensory and Motor Neuropathy
Definition:
Alternative IDs:
ParentIDs:MESH:D006983|MESH:D015417
TreeNumbers:C10.500.300/C565492 |C10.574.500.495/C565492 |C10.668.829.800.300/C565492 |C16.131.666.300/C565492 |C16.320.400.375/C565492 |C17.800.329.875/C565492
Synonyms:
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Skin disease
Reference: MedGen: C565492
MeSH: C565492
OMIM: 239840;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0004535Anterior cervical hypertrichosis
3 HP:0007178Motor polyneuropathy
4 HP:0002754Osteomyelitis
5 HP:0000763Sensory neuropathy
Disease Causing ClinVar Variants