From HPO
Aminoaciduria- MedGen UID:
- 116067
- •Concept ID:
- C0238621
- •
- Disease or Syndrome
An increased concentration of an amino acid in the urine.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Congenital ichthyosiform erythroderma- MedGen UID:
- 86936
- •Concept ID:
- C0079583
- •
- Disease or Syndrome
An ichthyosiform abnormality of the skin with congenital onset.
Abnormal hair morphology- MedGen UID:
- 56381
- •Concept ID:
- C0157733
- •
- Finding
An abnormality of the hair.
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the nervous system