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:
expandIntellectual Disability (D008607)
Parent Node:
expandKeratoconus (D007640)
Parent Node:
expandSeizures (D012640)
Parent Node:
expandSinoatrial Block (D012848)
..Starting node
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)

       Child Nodes:



 Sister Nodes: 
..expandMental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6996
Name:Mental retardation, keratoconus, febrile seizures, and sinoatrial block
Definition:
Alternative IDs:
ParentIDs:MESH:D007640|MESH:D008607|MESH:D012640|MESH:D012848
TreeNumbers:C10.228.140.490.631/C537452 |C10.597.606.643/C537452 |C10.597.742/C537452 |C11.204.627/C537452 |C14.280.067.558.750/C537452 |C23.550.073.425.780/C537452 |C23.888.592.604.646/C537452 |C23.888.592.742/C537452 |F03.550.600/C537452
Synonyms:
Slim Mappings:Cardiovascular disease|Eye disease|Mental disorder|Nervous system disease|Pathology (process)|Signs and symptoms
Reference: MedGen: C537452
MeSH: C537452
OMIM: 609438;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0011702Abnormal electrophysiology of sinoatrial node origin
3 HP:0002373Febrile seizure (within the age range of 3 months to 6 years)
4 HP:0006887Intellectual disability, progressive
5 HP:0010864Intellectual disability, severe
6 HP:0000563Keratoconus
7 HP:0012723Sinoatrial block
8 HP:0000572Visual loss
Disease Causing ClinVar Variants