From HPO
Renal tubular dysfunction- MedGen UID:
- 57484
- •Concept ID:
- C0151747
- •
- Disease or Syndrome
Abnormal function of the renal tubule. The basic functional unit of the kidney, the nephron, consists of a renal corpuscle attached to a renal tubule, with roughly 0.8 to 1.5 nephrons per adult kidney. The functions of the renal tubule include reabsorption of water, electrolytes, glucose, and amino acids and secretion of substances such as uric acid.
Generalized aminoaciduria- MedGen UID:
- 339863
- •Concept ID:
- C1847868
- •
- Finding
An increased concentration of all types of amino acid in the urine.
Failure to thrive- MedGen UID:
- 746019
- •Concept ID:
- C2315100
- •
- Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Diarrhea- MedGen UID:
- 8360
- •Concept ID:
- C0011991
- •
- Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Vomiting- MedGen UID:
- 12124
- •Concept ID:
- C0042963
- •
- Sign or Symptom
Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.
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.
Abnormal intestine morphology- MedGen UID:
- 1388201
- •Concept ID:
- C4316788
- •
- Finding
An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
Congenital sensorineural hearing impairment- MedGen UID:
- 356101
- •Concept ID:
- C1865866
- •
- Disease or Syndrome
A type of hearing impairment caused by an abnormal functionality of the cochlear nerve with congenital onset.
Hypoglycemia- MedGen UID:
- 6979
- •Concept ID:
- C0020615
- •
- Disease or Syndrome
A decreased concentration of glucose in the blood.
Hyperinsulinemia- MedGen UID:
- 43779
- •Concept ID:
- C0020459
- •
- Disease or Syndrome
An increased concentration of insulin in the blood.
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the endocrine system
- Abnormality of the genitourinary system
- Ear malformation
- Growth abnormality