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:
expandCataract (D002386)
Parent Node:
expandDeafness (D003638)
Parent Node:
expandGrowth Disorders (D006130)
Parent Node:
expandMuscular Atrophy (D009133)
Parent Node:
expandOsteochondritis (D010007)
..Starting node
..expandNathalie syndrome (C538342)

       Child Nodes:



 Sister Nodes: 
..expandFreiberg's disease (C535636)
..expandNathalie syndrome (C538342)
..expandOsteochondritis Dissecans (D010008) Child2
..expandRuvalcaba Syndrome (C579395)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7782
Name:Nathalie syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D002386|MESH:D003638|MESH:D006130|MESH:D009133|MESH:D010007
TreeNumbers:C05.116.791/C538342 |C05.182.520/C538342 |C09.218.458.341.186/C538342 |C10.597.613.612/C538342 |C10.597.751.418.341.186/C538342 |C11.510.245/C538342 |C17.300.182.520/C538342 |C23.300.070.500/C538342 |C23.550.393/C538342 |C23.888.592.608.612/C538342 |C23.888.592.76
Synonyms:
Slim Mappings:Connective tissue disease|Ear-nose-throat disease|Eye disease|Musculoskeletal disease|Nervous system disease|Pathology (anatomical condition)|Pathology (process)|Signs and symptoms
Reference: MedGen: C538342
MeSH: C538342
OMIM: 255990;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003115Abnormal EKG
3 HP:0000119Abnormality of the genitourinary system
4 HP:0000518Cataract
5 HP:0001510Growth delay
6 HP:0000365Hearing impairment
7 HP:0003202Skeletal muscle atrophy
Disease Causing ClinVar Variants