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:
expandDNA Repair-Deficiency Disorders (D049914)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandLeukemia, T-Cell (D015458)
..Starting node
..expandN syndrome (C536108)

       Child Nodes:



 Sister Nodes: 
..expandLeukemia, Large Granular Lymphocytic (D054066)
..expandLeukemia, Prolymphocytic, T-Cell (D015461)
..expandLeukemia-Lymphoma, Adult T-Cell (D015459)
..expandN syndrome (C536108)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:8135
Name:N syndrome
Definition:
Alternative IDs:OMIM:310465
ParentIDs:MESH:D008607|MESH:D015458|MESH:D049914
TreeNumbers:C04.557.337.428.580/C536108 |C10.597.606.643/C536108 |C15.604.515.560.575/C536108 |C18.452.284/C536108 |C20.683.515.528.582/C536108 |C23.888.592.604.646/C536108 |F03.550.600/C536108
Synonyms:NSX
Slim Mappings:Cancer|Immune system disease|Lymphatic disease|Mental disorder|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536108
MeSH: C536108
OMIM: 310465;

Genes: POLA1;
Phenotypes
1 HP:0001417X-linked inheritance
2 HP:0003220Abnormality of chromosome stability
3 HP:0000028Cryptorchidism
4 HP:0000365Hearing impairment
5 HP:0000047Hypospadias
6 HP:0001249Intellectual disability
7 HP:0001909Leukemia
8 HP:0002664Neoplasm
9 HP:0001257Spasticity
10 HP:0000505Visual impairment
Disease Causing ClinVar Variants