From HPO
Acroosteolysis- MedGen UID:
- 183017
- •Concept ID:
- C0917990
- •
- Disease or Syndrome
Dissolution or degeneration of bone tissue of the phalanges of the hand.
Autoamputation of digits- MedGen UID:
- 343770
- •Concept ID:
- C1852289
- •
- Finding
The spontaneous detachment of a digit (finger or toe) from the body due to long standing pathology.
Foot acroosteolysis- MedGen UID:
- 871259
- •Concept ID:
- C4025744
- •
- Pathologic Function
Feeding difficulties in infancy- MedGen UID:
- 436211
- •Concept ID:
- C2674608
- •
- Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Gastroesophageal reflux- MedGen UID:
- 1368658
- •Concept ID:
- C4317146
- •
- Finding
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.
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.
Areflexia- MedGen UID:
- 115943
- •Concept ID:
- C0234146
- •
- Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hyporeflexia- MedGen UID:
- 195967
- •Concept ID:
- C0700078
- •
- Finding
Reduction of neurologic reflexes such as the knee-jerk reaction.
Painless fractures due to injury- MedGen UID:
- 325208
- •Concept ID:
- C1837602
- •
- Finding
An increased tendency to fractures following trauma, with fractures occurring without pain.
Decreased sensory nerve conduction velocity- MedGen UID:
- 336512
- •Concept ID:
- C1849148
- •
- Finding
Reduced speed of conduction of the action potential along a sensory nerve.
Decreased nerve conduction velocity- MedGen UID:
- 347509
- •Concept ID:
- C1857640
- •
- Finding
A reduction in the speed at which electrical signals propagate along the axon of a neuron.
Decreased number of peripheral myelinated nerve fibers- MedGen UID:
- 346872
- •Concept ID:
- C1858285
- •
- Finding
A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Generalized hypotonia- MedGen UID:
- 346841
- •Concept ID:
- C1858120
- •
- Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Abnormality of metabolism/homeostasis- MedGen UID:
- 867398
- •Concept ID:
- C4021768
- •
- Finding
Hypogeusia- MedGen UID:
- 57498
- •Concept ID:
- C0151934
- •
- Finding
A decreased ability to perceive flavor.
Anhidrosis- MedGen UID:
- 1550
- •Concept ID:
- C0003028
- •
- Disease or Syndrome
Inability to sweat.
Paronychia- MedGen UID:
- 45334
- •Concept ID:
- C0030578
- •
- Disease or Syndrome
The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia).
Episodic hyperhidrosis- MedGen UID:
- 387757
- •Concept ID:
- C1857171
- •
- Finding
Intermittent episodes of abnormally increased perspiration.
Acral ulceration- MedGen UID:
- 1648438
- •Concept ID:
- C4732740
- •
- Finding
A type of digital ulcer that manifests as an open sore on the surface of the skin at the tip of a finger or toe.
Decreased corneal reflex- MedGen UID:
- 57723
- •Concept ID:
- C0151572
- •
- Finding
An abnormally reduced response to stimulation of the cornea (by touch, foreign body, blowing air). The corneal reflex (also known as the blink reflex, normally results in an involuntary blinking of the eyelids.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system