HPO
Db Link Name Definition Comment Is a
HPO HP:0002287 Progressive alopecia "Progressive loss of hair." [HPO:probinson] HP:0001596
HPO HP:0002289 Alopecia universalis "Loss of all hair on the entire body." [HPO:probinson] HP:0001596
HPO HP:0002290 Poliosis "Circumscribed depigmentation of the hair of the head or the eyelashes." [HPO:probinson] HP:0011365
HPO HP:0002292 Frontal balding "Absence of hair in the anterior midline and/or parietal areas." [PMID:19125436] HP:0011360
HPO HP:0002293 Alopecia of scalp HP:0001596, HP:0100037
HPO HP:0002296 Progressive hypotrichosis "Progressively reduced or lacking hair growth." [HPO:curators] HP:0008070
HPO HP:0002297 Red hair HP:0009887
HPO HP:0002298 Absent hair HP:0011362
HPO HP:0002299 Brittle hair "Fragile, easily breakable hair, i.e., with reduced tensile strength." [DDD:cmoss] Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). HP:0010719
HPO HP:0002300 Mutism HP:0000708, HP:0002167
HPO HP:0002301 Hemiplegia "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] HP:0004374
HPO HP:0002304 Akinesia "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [HPO:probinson] Akinesia is a typical extrapyramidal abnormality. HP:0002374
HPO HP:0002305 Athetosis "A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest." [HPO:probinson, PMID:20589866] Athetosis derives from the Greek word for 'changeable' or 'unfixed'. HP:0004305
HPO HP:0002307 Drooling "Habitual flow of saliva out of the mouth." [HPO:probinson, PMID:15202698] HP:0000708, HP:0003781
HPO HP:0002308 Arnold-Chiari malformation "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] HP:0002438
HPO HP:0002310 Orofacial dyskinesia HP:0100660
HPO HP:0002311 Incoordination HP:0011443
HPO HP:0002312 Clumsiness "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [HPO:probinson] HP:0002311
HPO HP:0002313 Spastic paraparesis HP:0002061, HP:0002385
HPO HP:0002314 Degeneration of the lateral corticospinal tracts "Deterioration of the tissues of the lateral corticospinal tracts." [HPO:probinson] HP:0007372
HPO HP:0002315 Headache "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, PMID:15304572] Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. HP:0012638
HPO HP:0002317 Unsteady gait HP:0001288
HPO HP:0002318 Cervical myelopathy HP:0002196
HPO HP:0002321 Vertigo "An abnormal sensation of spinning while the body is actually stationary." [HPO:probinson] HP:0001751
HPO HP:0002322 Resting tremor "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:probinson, PMID:22675666] Resting tremor vanishes with active movement, but typically reappears after a few seconds when the arms are held outstretched (reemergent tremor). In Parkinson disease, rest tremor frequency is usually in the low to mid-range (3-6 Hz), and the amplitude is quite variable, from less than 1 cm to over 10 cm in width. HP:0001337