dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Information
- Disease name
- dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
- Disease ID
- DOID:0111584
- Description
- "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12927431, url:https\://www.ncbi.nlm.nih.gov/pubmed/19283854]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:3373
- Cross Reference ID (Disease Ontology)
- MESH:C535580
- Cross Reference ID (Disease Ontology)
- MESH:C535703
- Cross Reference ID (Disease Ontology)
- MIM:212112
- Cross Reference ID (Disease Ontology)
- NCI:C174217
- Cross Reference ID (Disease Ontology)
- ORDO:2229
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:719451006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0796031
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0796083
- Exact Synonym (Disease Ontology)
- cardiogenital syndrome
- Exact Synonym (Disease Ontology)
- cardiomyopathy eith primary testicular failure
- Exact Synonym (Disease Ontology)
- congestive cardiomyopathy with hypergonadotropic hypogonadism
- Exact Synonym (Disease Ontology)
- dilated cardiomyopathy with hypergonadotropic hypogonadism
- Exact Synonym (Disease Ontology)
- dilated cardiomyopathy with premature ovarian failure
- Exact Synonym (Disease Ontology)
- genital anomaly with cardiomyopathy
- Exact Synonym (Disease Ontology)
- Malouf syndrome
- Exact Synonym (Disease Ontology)
- Najjar syndrome
- OrphaNumber from OrphaNet (Orphanet)
- 2229