| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 32 (4.0%) |
11156385 |
Genetic heterogeneity in familial juvenile polyposis. Huang SC, Chen CR, Lavine JE, Taylor SF, Newbury RO, Pham TT, Ricciardiello L, Carethers JM. Cancer Res. 2000;60(24):6882-5. |
| Hamartomatous polyposis | ||
| PTEN SMAD4 | ||
| rs587780544 rs587782434 | ||
| Adenomatous Polyposis Coli Base Sequence Child Cloning, Molecular Diseases in Twins Exons Females Gene Deletion Germ-Line Mutation Homo sapiens Male Middle Aged Molecular Sequence Data PTEN Phosphohydrolase Phosphoric Monoester Hydrolases Polyacrylamide Gel Electrophoresis RNA, Messenger Reverse Transcriptase Polymerase Chain Reaction Sequence Analysis, DNA Tumor Suppressor Proteins | ||
| 32 (4.0%) |
1336932 |
Bannayan-Riley-Ruvalcaba syndrome. Gorlin RJ, Cohen MM Jr, Condon LM, Burke BA. Am J Med Genet. 1992;44(3):307-14. |
| Hashimoto thyroiditis | ||
| Females Homo sapiens Lipoma Male Syndrome |
Total: 55
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000256 | Macrocephaly | Very frequent (99-80%) |
| HP:0002250 | Abnormal large intestine morphology | Very frequent (99-80%) |
| HP:0003764 | Nevus | Very frequent (99-80%) |
| HP:0004322 | Short stature | Very frequent (99-80%) |
| HP:0004390 | Hamartomatous polyposis | Very frequent (99-80%) |
| HP:0005306 | Capillary hemangioma | Very frequent (99-80%) |
| HP:0007400 | Irregular hyperpigmentation | Very frequent (99-80%) |
| HP:0012032 | Lipoma | Very frequent (99-80%) |
| HP:0100013 | Neoplasm of the breast | Very frequent (99-80%) |
| HP:0100026 | Arteriovenous malformation | Very frequent (99-80%) |
| HP:0100761 | Visceral angiomatosis | Very frequent (99-80%) |
| HP:0200008 | Intestinal polyposis | Very frequent (99-80%) |
| HP:0000767 | Pectus excavatum | Frequent (79-30%) |
| HP:0001482 | Subcutaneous nodule | Frequent (79-30%) |
| HP:0001933 | Subcutaneous hemorrhage | Frequent (79-30%) |
| HP:0002650 | Scoliosis | Frequent (79-30%) |
| HP:0000098 | Tall stature | Occasional (29-5%) |
| HP:0000189 | Narrow palate | Occasional (29-5%) |
| HP:0000268 | Dolichocephaly | Occasional (29-5%) |
| HP:0000343 | Long philtrum | Occasional (29-5%) |
| HP:0000347 | Micrognathia | Occasional (29-5%) |
| HP:0000400 | Macrotia | Occasional (29-5%) |
| HP:0000445 | Wide nose | Occasional (29-5%) |
| HP:0000463 | Anteverted nares | Occasional (29-5%) |
| HP:0000587 | Abnormality of the optic nerve | Occasional (29-5%) |
| HP:0000872 | Hashimoto thyroiditis | Occasional (29-5%) |
| HP:0000965 | Cutis marmorata | Occasional (29-5%) |
| HP:0001004 | Lymphedema | Occasional (29-5%) |
| HP:0001009 | Telangiectasia | Occasional (29-5%) |
| HP:0001249 | Intellectual disability | Occasional (29-5%) |
| HP:0001250 | Seizures | Occasional (29-5%) |
| HP:0001252 | Muscular hypotonia | Occasional (29-5%) |
| HP:0001324 | Muscle weakness | Occasional (29-5%) |
| HP:0001681 | Angina pectoris | Occasional (29-5%) |
| HP:0001724 | obsolete Aortic dilatation | Occasional (29-5%) |
| HP:0001943 | Hypoglycemia | Occasional (29-5%) |
| HP:0002007 | Frontal bossing | Occasional (29-5%) |
| HP:0002167 | Neurological speech impairment | Occasional (29-5%) |
| HP:0002170 | Intracranial hemorrhage | Occasional (29-5%) |
| HP:0002194 | Delayed gross motor development | Occasional (29-5%) |
| HP:0002664 | Neoplasm | Occasional (29-5%) |
| HP:0002665 | Lymphoma | Occasional (29-5%) |
| HP:0002750 | Delayed skeletal maturation | Occasional (29-5%) |
| HP:0002858 | Meningioma | Occasional (29-5%) |
| HP:0002890 | Thyroid carcinoma | Occasional (29-5%) |
| HP:0003196 | Short nose | Occasional (29-5%) |
| HP:0003198 | Myopathy | Occasional (29-5%) |
| HP:0003202 | Skeletal muscle atrophy | Occasional (29-5%) |
| HP:0004326 | Cachexia | Occasional (29-5%) |
| HP:0005692 | Joint hyperflexibility | Occasional (29-5%) |
| HP:0007565 | Multiple cafe-au-lait spots | Occasional (29-5%) |
| HP:0009023 | Abdominal wall muscle weakness | Occasional (29-5%) |
| HP:0010784 | Uterine neoplasm | Occasional (29-5%) |
| HP:0011304 | Broad thumb | Occasional (29-5%) |
| HP:0100641 | Neoplasm of the adrenal cortex | Occasional (29-5%) |
Total: 18
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0000256 | Macrocephaly | 12 |
| HP:0012032 | Lipoma | 4 |
| HP:0000717 | Autism | 3 |
| HP:0003198 | Myopathy | 3 |
| HP:0010566 | Hamartoma | 3 |
| HP:0012733 | Macule | 3 |
| HP:0200008 | Intestinal polyposis | 3 |
| HP:0001028 | Hemangioma | 2 |
| HP:0002027 | Abdominal pain | 2 |
| HP:0001480 | Freckling | 1 |
| HP:0001548 | Overgrowth | 1 |
| HP:0002516 | Increased intracranial pressure | 1 |
| HP:0004390 | Hamartomatous polyposis | 1 |
| HP:0004947 | Arteriovenous fistula | 1 |
| HP:0005266 | Intestinal polyp | 1 |
| HP:0007461 | Hemangiomatosis | 1 |
| HP:0031447 | Penile freckling | 1 |
| HP:0100026 | Arteriovenous malformation | 1 |