| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (42.7%) |
19283854 |
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF. Am J Med Genet A. 2009;149A(4):567-72. |
| Retrognathia | ||
| LMNA | ||
| c|SUB|T|176|G;RS#:60652225|58922911 p|SUB|A|57|P;RS#:28928903 p|SUB|L|59|R;RS#:60652225|58922911 rs1553262007 rs28928903 rs57077886 rs57830985 rs58922911 | ||
| Amino Acid Substitution Cardiomyopathy, Dilated Females Genotype Heterozygote Homo sapiens Lamin Type A Lipodystrophy Missense Mutation Ovarian Failure, Premature Phenotype Syndrome Werner Syndrome | ||
| 2 (4.0%) |
27183949 |
Auxiliary partial orthotopic liver transplant for Criggler-Najjar Syndrome: Report of 2 cases from Pakistan. Dar FS, Bhatti AB, Hashmi SS, Zia H, Malik MI. J Pak Med Assoc. 2016;66(5):615-7. |
| Jaundice | ||
| Cardiomyopathies Child Females Genitalia Homo sapiens Living Donors Male | ||
| 2 (4.0%) |
25544917 (4269178) |
Malouf syndrome with hypergonadotropic hypogonadism and cardiomyopathy: two-case report and literature review. ilfeler DB, Karateke A, Keskin Kurt R, Aldemir O, Bugra Nacar A, Baloglu A. Case Rep Obstet Gynecol. 2014;2014:275710. |
| Hypergonadotropic hypogonadism | ||
| LHCGR | ||
| 2 (4.0%) |
24008991 |
Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: a case report. Gersak K, Strgulc M, Gorjup V, Dolenc-Strazar Z, Jurcic V, Penny DJ, Fan Y. Mol Med Rep. 2013;8(5):1311-4. |
| Hypergonadotropic hypogonadism | ||
| LHCGR LMNA | ||
| c|SUB|C|1698|T;RS#:4641 | ||
| Adult Cardiomyopathy, Dilated Fatal Outcome Females Gonadal Dysgenesis Homo sapiens Hypogonadism Lamin Type A Laminopathies Mutation Ovarian Failure, Premature | ||
| 2 (4.0%) |
8291546 |
Najjar syndrome revisited. Thomas IT, Jewett T, Lantz P, Covitz W, Garber P, Berry MN. Am J Med Genet. 1993;47(8):1151-2. |
| Hypergonadotropic hypogonadism | ||
| Cardiomyopathies Homo sapiens Hypogonadism Infant, Newborn Male Syndrome |
Total: 7
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000147 | Polycystic ovaries | Very frequent (99-80%) |
| HP:0000431 | Wide nasal bridge | Very frequent (99-80%) |
| HP:0000508 | Ptosis | Very frequent (99-80%) |
| HP:0000815 | Hypergonadotropic hypogonadism | Very frequent (99-80%) |
| HP:0000826 | Precocious puberty | Very frequent (99-80%) |
| HP:0001644 | Dilated cardiomyopathy | Very frequent (99-80%) |
| HP:0100362 | Aplasia of the phalanges of the 3rd toe | Very frequent (99-80%) |
Total: 2
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000815 | Hypergonadotropic hypogonadism | 3 |
| HP:0001638 | Cardiomyopathy | 1 |