| HPO |
HP:0002891 |
Uterine leiomyosarcoma |
"The presence of a leiomyosarcoma of the uterus." [HPO:probinson] |
Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. |
HP:0010784, HP:0100243 |
| HPO |
HP:0002209 |
Sparse scalp hair |
"Decreased number of hairs per unit area of skin of the scalp." [PMID:19125436, PMID:28061825] |
Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. |
HP:0008070, HP:0100037 |
| HPO |
HP:0000677 |
Oligodontia |
"The absence of six or more teeth from the normal series by a failure\nto develop." [PMID:19125428, PMID:31468724] |
The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. |
HP:0009804 |
| HPO |
HP:0002231 |
Sparse body hair |
"Sparseness of the body hair." [HPO:probinson] |
— |
HP:0008070 |
| HPO |
HP:0002215 |
Sparse axillary hair |
"Reduced number or density of axillary hair." [HPO:probinson] |
— |
HP:0008070, HP:0100134 |
| HPO |
HP:0005227 |
Adenomatous colonic polyposis |
"Presence of multiple adenomatous polyps in the colon." [HPO:probinson] |
— |
HP:0030255, HP:0100273 |
| HPO |
HP:0010764 |
Short eyelashes |
"Decreased length of the eyelashes (subjective)." [HPO:probinson] |
Normal values are 7.99 - 1.05 mm in boys and 7.76 - 1.03 mm in girls. |
HP:0000499 |
| HPO |
HP:0033769 |
Fundic gland polyposis |
"Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps." [PMID:20567540] |
— |
HP:0006753 |
| HPO |
HP:0003003 |
Colon cancer |
— |
— |
HP:0100273 |
| HPO |
HP:0000006 |
Autosomal dominant inheritance |
"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
— |
HP:0000005 |
| HPO |
HP:0003002 |
Breast carcinoma |
"The presence of a carcinoma of the breast." [HPO:probinson] |
— |
HP:0100013 |
| HPO |
HP:0000677 |
Oligodontia |
"The absence of six or more teeth from the normal series by a failure\nto develop." [PMID:19125428, PMID:31468724] |
The diagnosis of oligodontia requires a radiograph, as is true for anodontia and for the other designation of tooth agenesis, hypodontia. The terms hypodontia and oligodontia are sometimes used interchangeably in the literature while on other occasions hypodontia is used for selective agenesis of six or less missing teeth while oligodontia is applied when there are more than six missing teeth. Tooth agenesis or oligodontia/hypodontia can be mistaken for delayed eruption and again a radiograph is needed for diagnosis. Absence of teeth may be congenital (tooth agenesis) or acquired. The incidence of congenital absence of teeth is different depending on the type and position of the tooth [Gorlin et al, 2001]. |
HP:0009804 |
| HPO |
HP:0002223 |
Absent eyebrow |
"Absence of the eyebrow." [HPO:probinson] |
— |
HP:0002298, HP:0100840 |
| HPO |
HP:0003003 |
Colon cancer |
— |
— |
HP:0100273 |
| HPO |
HP:0005227 |
Adenomatous colonic polyposis |
"Presence of multiple adenomatous polyps in the colon." [HPO:probinson] |
— |
HP:0030255, HP:0100273 |
| HPO |
HP:0200063 |
Colorectal polyposis |
"Multiple abnormal growths that arise from the lining of the large intestine (colon or rectum) and protrude into the intestinal lumen." [] |
— |
HP:0030255, HP:0100743 |
| OMIM |
OMIM:114500 |
COLORECTAL CANCER; CRC |
— |
— |
— |
| OMIM |
OMIM:608615 |
OLIGODONTIA-COLORECTAL CANCER SYNDROME; ODCRCS |
— |
— |
— |