HPO
Db Link Name Definition Comment Is a
HPO HP:0001732 Abnormality of the pancreas "An abnormality of the pancreas." [HPO:probinson] HP:0002012
HPO HP:0001733 Pancreatitis "The presence of inflammation in the pancreas." [HPO:probinson] HP:0012091, HP:0012649
HPO HP:0001734 Annular pancreas "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [HPO:probinson] HP:0012090
HPO HP:0001735 Acute pancreatitis "A acute form of pancreatitis." [HPO:probinson] HP:0001733
HPO HP:0001737 Pancreatic cysts "A cyst of the pancreas that possess a lining of mucous epithelium." [HPO:probinson] Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. HP:0012090
HPO HP:0001738 Exocrine pancreatic insufficiency "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [HPO:probinson] HP:0012092
HPO HP:0001739 Abnormal nasopharynx morphology "A structural anomaly of the nasopharynx." [] The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. HP:0000366, HP:0033151
HPO HP:0001741 Phimosis "The male foreskin cannot be fully retracted from the head of the penis." [HPO:sdoelken] HP:0100587
HPO HP:0001742 Nasal congestion "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [HPO:probinson] HP:0000366
HPO HP:0001743 Abnormality of the spleen "An abnormality of the spleen." [HPO:probinson] The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. HP:0002012, HP:0100763
HPO HP:0001744 Splenomegaly "Abnormal increased size of the spleen." [HPO:probinson] HP:0003271, HP:0025408
HPO HP:0001746 Asplenia "Absence (aplasia) of the spleen." [HPO:curators] HP:0010451
HPO HP:0001747 Accessory spleen "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:probinson] HP:0009799
HPO HP:0001748 Polysplenia "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] HP:0009799
HPO HP:0001750 Single ventricle "The presence of only one working lower chamber in the heart, usually with a virtual absence of the ventricular septum and usually present in conjunction with double inlet left or right ventricle." [MP:0010432] HP:0001713
HPO HP:0001751 Vestibular dysfunction "An abnormality of the functioning of the vestibular apparatus." [HPO:probinson] The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. HP:0011389
HPO HP:0001756 Vestibular hypofunction "Reduced functioning of the vestibular apparatus." [HPO:probinson] HP:0001751
HPO HP:0001757 High-frequency sensorineural hearing impairment "A form of sensorineural hearing impairment that affects primarily the higher frequencies." [HPO:probinson] HP:0000407
HPO HP:0001760 Abnormal foot morphology "An abnormality of the skeleton of foot." [HPO:probinson] A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. HP:0002814
HPO HP:0001761 Pes cavus "The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, PMID:19125433] HP:0001760
HPO HP:0001762 Talipes equinovarus "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson, PMID:32491773] Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. HP:0001883
HPO HP:0001763 Pes planus "A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, PMID:19125433] 'has part' some (flat and ('inheres in' some 'Longitudinal arch of foot (adult human)') and ('has modifier' some abnormal)) HP:0001760
HPO HP:0001765 Hammertoe "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [PMID:19125433] HP:0001780
HPO HP:0001769 Broad foot "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [PMID:19125433] HP:0001760
HPO HP:0001770 Toe syndactyly "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are referred to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are referred to as \"Symphalangism\"." [HPO:curators] HP:0001159, HP:0001780