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Results: 9

1.

Spastic paraplegia epilepsy mental retardation

MedGen UID:
356631
Concept ID:
C1866854
Disease or Syndrome
2.

Triploidy

A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects. [from NCI]

MedGen UID:
90711
Concept ID:
C0333693
Congenital Abnormality
3.

Female

A person who belongs to the sex that normally produces ova. The term is used to indicate biological sex distinctions, or cultural gender role distinctions, or both. (NCI) [from NCI_CDISC]

MedGen UID:
8807
Concept ID:
C0015780
Finding
4.

Triploidy

MedGen UID:
799113
Concept ID:
CN204384
Disease or Syndrome
5.

Triploidy

A numerical chromosomal abnormality characterized by the presence of three complete sets of chromosomes. [from NCI]

MedGen UID:
760695
Concept ID:
C3536727
Cell or Molecular Dysfunction
6.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
7.

Recruitment

MedGen UID:
78772
Concept ID:
C0271510
Disease or Syndrome
8.

Diagnosis

The process of identifying a disease, such as cancer, from its signs and symptoms. [from NCI]

MedGen UID:
8354
Concept ID:
C0011900
Finding
9.

Male gender

A person who belongs to the sex that normally produces sperm. The term is used to indicate biological sex distinctions, cultural gender role distinctions, or both. (NCI) [from NCI]

MedGen UID:
7446
Concept ID:
C0024554
Finding

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