| HPO |
HP:0200041 |
Skin erosion |
"A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:skoehler] |
— |
HP:0011355 |
| HPO |
HP:0200042 |
Skin ulcer |
"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:skoehler] |
— |
HP:0011355 |
| HPO |
HP:0200043 |
Verrucae |
"Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas." [HPO:skoehler] |
Cause is a virus called HPV (human papilloma virus), which infects the skin and causes the abnormal growth. There are many different varieties of the virus, which usually depends on the location of the lesion. |
HP:0012740 |
| HPO |
HP:0200044 |
Porokeratosis |
"A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella." [HPO:skoehler] |
— |
HP:0011368 |
| HPO |
HP:0200046 |
Cat cry |
"The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten." [HPO:probinson] |
This unusual cry is characteristic of the cri du chat syndrome which results from a deletion on the p arm of chromosome 5. It is thought to be due to laryngeal hypoplasia, floppy epiglottis, small larynx, and asymmetric vocal cords, but is probably also related to dysfunction of the central nervous system. This sign occurs in infants and disappears with age. |
HP:0025429 |
| HPO |
HP:0200047 |
Chondritis of pinna |
"Inflammation of the cartilage of the external ear." [HPO:probinson] |
— |
HP:0000377, HP:0100662 |
| HPO |
HP:0200048 |
Cyanotic episode |
— |
— |
HP:0000961 |
| HPO |
HP:0200049 |
Upper limb hypertonia |
— |
— |
HP:0001446, HP:0002509 |
| HPO |
HP:0200050 |
Bracket metacarpal epiphyses |
— |
— |
HP:0005913 |
| HPO |
HP:0200053 |
Hemihypotrophy of lower limb |
"Shortening of a leg affecting only one side." [HPO:curators] |
— |
HP:0100556 |
| HPO |
HP:0200054 |
Foot monodactyly |
— |
— |
HP:0001849 |
| HPO |
HP:0200055 |
Small hand |
"Disproportionately small hand." [HPO:probinson] |
— |
HP:0005927 |
| HPO |
HP:0200056 |
Macular scar |
"Scar tissue in the macula." [HPO:probinson] |
— |
HP:0007401, HP:0100699 |
| HPO |
HP:0200057 |
Marcus Gunn pupil |
"An aberrant pupillary response characterized by (i) Constriction of pupils of both eyes when the light stimulus is applied to the normal eye, and (ii) Dilatation of pupils of both eyes when the light stimulus is rapidly transferred from the normal eye (after brief light exposure to the normal eye) to the affected eye." [PMID:23520419, PMID:32491607] |
— |
HP:0000587 |
| HPO |
HP:0200058 |
Angiosarcoma |
— |
— |
HP:0030448 |
| HPO |
HP:0200059 |
Metastatic angiosarcoma |
— |
— |
HP:0200058 |
| 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 |
| HPO |
HP:0200064 |
Asymmetry of iris pigmentation |
"Asymmetry between the two irides or asymmetry between different parts of one iris." [ORCID:0000-0003-0986-4123] |
— |
HP:0008034 |
| HPO |
HP:0200065 |
Chorioretinal degeneration |
— |
— |
HP:0000532 |
| HPO |
HP:0200066 |
Ribbonlike corneal degeneration |
— |
— |
HP:0007705 |
| HPO |
HP:0200067 |
Recurrent spontaneous abortion |
"Repeated episodes of abortion (Expulsion of the product of fertilization before completing the term of gestation) without deliberate interference." [HPO:probinson] |
— |
HP:0005268 |
| HPO |
HP:0200068 |
Nonprogressive visual loss |
— |
— |
HP:0000572 |
| HPO |
HP:0200070 |
Peripheral retinal atrophy |
— |
— |
HP:0001105 |
| HPO |
HP:0200071 |
Peripheral vitreoretinal degeneration |
"A type of vitreoretinal degeneration with manifestations that are concentrated at the periphery of the retina." [] |
— |
HP:0007773 |
| HPO |
HP:0200072 |
Episodic quadriplegia |
"Intermittent episodes of paralysis of all four limbs." [HPO:probinson] |
— |
HP:0002445 |