Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Term ID:1941
Name:Cerebral Cavernous Malformations 3
Definition:
Alternative IDs:OMIM:603285
ParentIDs:MESH:D008607|MESH:D008844
TreeNumbers:C05.500.460.457/C566393 |C05.660.207.540.460.457/C566393 |C07.320.440.457/C566393 |C07.650.500.460.457/C566393 |C10.597.606.643/C566393 |C16.131.621.207.540.460.457/C566393 |C16.131.850.500.460.457/C566393 |C23.888.592.604.646/C566393 |F03.550.600/C566393
Synonyms:CCM3
Slim Mappings:Congenital abnormality|Mental disorder|Mouth disease|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C566393
MeSH: C566393
OMIM: 603285;

Genes: PDCD10;
Phenotypes
1 HP:0002060Abnormal cerebral morphologyHP:0040280
2 HP:0001342Cerebral hemorrhageHP:0040282
3 HP:0002315HeadacheHP:0040282
4 HP:0003470ParalysisHP:0040282
5 HP:0001250SeizureHP:0040282
Disease Causing ClinVar Variants