From HPO
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.
Vertigo- MedGen UID:
- 53006
- •Concept ID:
- C0042571
- •
- Sign or Symptom
An abnormal sensation of spinning while the body is actually stationary.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Astrocytoma- MedGen UID:
- 438
- •Concept ID:
- C0004114
- •
- Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Cerebellar ataxia- MedGen UID:
- 849
- •Concept ID:
- C0007758
- •
- Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Ependymoma- MedGen UID:
- 41825
- •Concept ID:
- C0014474
- •
- Neoplastic Process
The presence of an ependymoma of the central nervous system.
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.
Meningioma- MedGen UID:
- 7532
- •Concept ID:
- C0025286
- •
- Neoplastic Process
The presence of a meningioma, i.e., a benign tumor originating from the dura mater or arachnoid mater.
Acoustic neuroma- MedGen UID:
- 45062
- •Concept ID:
- C0027859
- •
- Neoplastic Process
A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.
Peripheral neuropathy- MedGen UID:
- 18386
- •Concept ID:
- C0031117
- •
- Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Seizure- MedGen UID:
- 20693
- •Concept ID:
- C0036572
- •
- Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Neurofibromatosis- MedGen UID:
- 58149
- •Concept ID:
- C0162678
- •
- Neoplastic Process
A benign peripheral nerve sheath tumor that generally appears as a soft, skin-colored papule or small subcutaneous nodule. Individuals with neurofibromatosis can have numerous neurofibromas.
Personality changes- MedGen UID:
- 66817
- •Concept ID:
- C0240735
- •
- Mental or Behavioral Dysfunction
An abnormal shift in patterns of thinking, acting, or feeling.
Optic nerve sheath meningioma- MedGen UID:
- 138057
- •Concept ID:
- C0346328
- •
- Neoplastic Process
A benign tumor of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.
Bilateral vestibular schwannoma- MedGen UID:
- 209678
- •Concept ID:
- C1136042
- •
- Neoplastic Process
A bilateral vestibular schwannoma (acoustic neurinoma).
Unilateral vestibular schwannoma- MedGen UID:
- 350232
- •Concept ID:
- C1863653
- •
- Finding
A unilateral vestibular schwannoma (acoustic neurinoma).
Peripheral schwannoma- MedGen UID:
- 869845
- •Concept ID:
- C4024276
- •
- Neoplastic Process
The presence of a peripheral schwannoma.
Cafe-au-lait spot- MedGen UID:
- 113157
- •Concept ID:
- C0221263
- •
- Finding
Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children.
Inguinal freckling- MedGen UID:
- 320315
- •Concept ID:
- C1834297
- •
- Finding
The presence in the inguinal region (groin) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Axillary freckling- MedGen UID:
- 348082
- •Concept ID:
- C1860335
- •
- Finding
The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
Diplopia- MedGen UID:
- 41600
- •Concept ID:
- C0012569
- •
- Disease or Syndrome
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.
Cataract- MedGen UID:
- 39462
- •Concept ID:
- C0086543
- •
- Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Cortical cataract- MedGen UID:
- 82868
- •Concept ID:
- C0271160
- •
- Acquired Abnormality
A cataract which affects the layer of the lens surrounding the nucleus, i.e., the lens cortex. It is identified by its unique wedge or spoke appearance.
Preretinal fibrosis- MedGen UID:
- 87388
- •Concept ID:
- C0339543
- •
- Anatomical Abnormality
An epiretinal membrane is a thin sheet of fibrous tissue that can develop on the surface of the macular area of the retina and cause a disturbance in vision. An epiretinal membrane area can develop on the thin macular area of the retin. An epiretinal membrane is also sometimes called a macular pucker, premacular fibrosis, surface wrinkling retinopathy or cellophane maculopathy.
Posterior subcapsular cataract- MedGen UID:
- 163646
- •Concept ID:
- C0858617
- •
- Acquired Abnormality
A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule.
Lisch nodules- MedGen UID:
- 395461
- •Concept ID:
- C1860334
- •
- Finding
The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the iris..
Juvenile posterior subcapsular lenticular opacities- MedGen UID:
- 354976
- •Concept ID:
- C1863408
- •
- Finding
Retinal hamartoma- MedGen UID:
- 354977
- •Concept ID:
- C1863411
- •
- Neoplastic Process
A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina.
Visual loss- MedGen UID:
- 784038
- •Concept ID:
- C3665386
- •
- Finding
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the nervous system
- Ear malformation