From HPO
Lipodystrophy- MedGen UID:
- 6111
- •Concept ID:
- C0023787
- •
- Disease or Syndrome
Degenerative changes of the fat tissue.
Pancreatitis- MedGen UID:
- 14586
- •Concept ID:
- C0030305
- •
- Disease or Syndrome
The presence of inflammation in the pancreas.
Type 2 diabetes mellitus- MedGen UID:
- 41523
- •Concept ID:
- C0011860
- •
- Disease or Syndrome
WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive neurodegenerative disorder, is characterized by onset of diabetes mellitus and optic atrophy before age 16 years. Additional complications may include one or more of the following: variable hearing impairment / deafness, diabetes insipidus, neurologic abnormalities, neurogenic bladder, and psychiatric abnormalities. Nonclassic WFS1-SD is less common than classic WFS1-SD. Phenotypes that appear to be milder than classic WFS1-SD include: optic atrophy and hearing impairment; neonatal diabetes, profound congenital deafness, and cataracts; isolated diabetes mellitus; isolated congenital cataracts; and isolated congenital, slowly progressive, and low-frequency (<2000 Hz) sensorineural hearing loss.
Hypertriglyceridemia- MedGen UID:
- 167238
- •Concept ID:
- C0813230
- •
- Finding
An abnormal increase in the level of triglycerides in the blood.
Tuberous xanthoma- MedGen UID:
- 86213
- •Concept ID:
- C0302164
- •
- Disease or Syndrome
A type of xanthoma characterized by a nodular form. Tuberous xanthomas are firm subcutaneous nodules,whereby the overlying skin can have red or red-yellow color changes.
- Abnormality of metabolism/homeostasis
- Abnormality of the immune system
- Abnormality of the integument
- Abnormality of the musculoskeletal system