From HPO
Pes cavus- MedGen UID:
- 675590
- •Concept ID:
- C0728829
- •
- Congenital Abnormality
An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).
Areflexia of lower limbs- MedGen UID:
- 347285
- •Concept ID:
- C1856694
- •
- Finding
Inability to elicit tendon reflexes in the lower limbs.
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.
Hearing impairment- MedGen UID:
- 235586
- •Concept ID:
- C1384666
- •
- Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Polyneuropathy- MedGen UID:
- 57502
- •Concept ID:
- C0152025
- •
- Disease or Syndrome
A generalized disorder of peripheral nerves.
Gait disturbance- MedGen UID:
- 107895
- •Concept ID:
- C0575081
- •
- Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Segmental peripheral demyelination/remyelination- MedGen UID:
- 335873
- •Concept ID:
- C1843077
- •
- Finding
A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.
Distal sensory impairment- MedGen UID:
- 335722
- •Concept ID:
- C1847584
- •
- Finding
An abnormal reduction in sensation in the distal portions of the extremities.
Onion bulb formation- MedGen UID:
- 376237
- •Concept ID:
- C1847906
- •
- Finding
Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Distal muscle weakness- MedGen UID:
- 140883
- •Concept ID:
- C0427065
- •
- Finding
Reduced strength of the musculature of the distal extremities.
Distal amyotrophy- MedGen UID:
- 338530
- •Concept ID:
- C1848736
- •
- Disease or Syndrome
Muscular atrophy affecting muscles in the distal portions of the extremities.
Decreased phosphoribosylpyrophosphate synthetase level- MedGen UID:
- 1698029
- •Concept ID:
- C5139359
- •
- Finding
Abnormally reduced level of the enzyme phosphoribosyl pyrophosphatesynthetase, which catalyzes the synthesis of PP-ribose-P from ATP and ribose-5-phosphate.
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.
Progressive visual loss- MedGen UID:
- 326867
- •Concept ID:
- C1839364
- •
- Finding
A reduction of previously attained ability to see.
Rod-cone dystrophy- MedGen UID:
- 1632921
- •Concept ID:
- C4551714
- •
- Disease or Syndrome
An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the eye
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Ear malformation