From HPO
Ocular pain- MedGen UID:
- 57490
- •Concept ID:
- C0151827
- •
- Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the eye.
Sensorineural hearing loss disorder- MedGen UID:
- 9164
- •Concept ID:
- C0018784
- •
- Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Tinnitus- MedGen UID:
- 52760
- •Concept ID:
- C0040264
- •
- Disease or Syndrome
Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.
Abnormal vestibular function- MedGen UID:
- 334848
- •Concept ID:
- C1843865
- •
- Finding
An abnormality of the functioning of the vestibular apparatus.
Anosmia- MedGen UID:
- 1950
- •Concept ID:
- C0003126
- •
- Finding
An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell.
Headache- MedGen UID:
- 9149
- •Concept ID:
- C0018681
- •
- Sign or Symptom
Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.
Chiari type I malformation- MedGen UID:
- 196689
- •Concept ID:
- C0750929
- •
- Congenital Abnormality
Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle. It is characterized by one or both pointed (not rounded) cerebellar tonsils that project 5 mm below the foramen magnum, measured by a line drawn from the basion to the opisthion (McRae Line)
Hyposmia- MedGen UID:
- 473584
- •Concept ID:
- C2364082
- •
- Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Mastoiditis- MedGen UID:
- 7480
- •Concept ID:
- C0024904
- •
- Disease or Syndrome
Inflammation of the mucosal lining of the mastoid antrum and mastoid air cell system of the mastoid process.
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Hyperostosis cranialis interna- MedGen UID:
- 327093
- •Concept ID:
- C1840404
- •
- Disease or Syndrome
Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).
Calvarial hyperostosis- MedGen UID:
- 350147
- •Concept ID:
- C1863351
- •
- Finding
Excessive growth of the calvaria.
Osteosclerosis of the base of the skull- MedGen UID:
- 867264
- •Concept ID:
- C4021624
- •
- Finding
An increase in bone density affecting the basicranium (base of the skull).
Proptosis- MedGen UID:
- 41917
- •Concept ID:
- C0015300
- •
- Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Optic atrophy- MedGen UID:
- 18180
- •Concept ID:
- C0029124
- •
- Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Epiphora- MedGen UID:
- 57518
- •Concept ID:
- C0152227
- •
- Disease or Syndrome
Abnormally increased lacrimation, that is, excessive tearing (watering eye).
Reduced visual acuity- MedGen UID:
- 65889
- •Concept ID:
- C0234632
- •
- Finding
Diminished clarity of vision.
Raised intraocular pressure- MedGen UID:
- 68606
- •Concept ID:
- C0234708
- •
- Finding
Intraocular pressure that is 2 standard deviations above the population mean.
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Constitutional symptom
- Ear malformation