Phenotypes
Db Link Name Definition Comment Is a
HPO HP:0002435 Meningocele "Protrusion of the meninges through a defect of the vertebral column." [HPO:sdoelken] HP:0002414, HP:0010651
HPO HP:0002690 Large sella turcica "An abnormal enlargement of the sella turcica." [HPO:probinson] HP:0002679
HPO HP:0025247 Dermoid cyst "A congenital subcutaneous cyst that arises from entrapment of skin along the lines of embryonic fusion. In contrast to epidermal cysts, dermoid cysts tend to contain various adnexal structures such as hair, sebaceous, eccrine or apocrine glands. Dermoid cysts are present at birth, and are indolent, firm, deep, subcutaneous nodules. They are often located on the head and neck, and rarely in the anogenital area. Dermoid cysts are\nslowly progressive and can grow to a size of 1 to 4 cm." [] HP:0025245
HPO HP:0005772 Aplasia/Hypoplasia of the tibia "Absence or underdevelopment of the tibia." [HPO:curators] HP:0002992, HP:0006493
HPO HP:0000508 Ptosis "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [PMID:19125427] HP:0012373
OMIM OMIM:603671 ACROMELIC FRONTONASAL DYSOSTOSIS; AFND