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Items: 1 to 20 of 77

1.

Trisomy

A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number. [from NCI]

MedGen UID:
21702
Concept ID:
C0041107
Cell or Molecular Dysfunction
2.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
3.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
4.

Trisomy 13

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation. [from ORDO]

MedGen UID:
445409
Concept ID:
C2936830
Cell or Molecular Dysfunction
5.

Anophthalmia

MedGen UID:
340863
Concept ID:
C1855428
6.

Complete trisomy 13 syndrome

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. [from GTR]

MedGen UID:
56261
Concept ID:
C0152095
Disease or Syndrome
7.

Anophthalmia

A rare congenital abnormality characterized by the complete absence of ocular tissue in the orbit. [from NCI]

MedGen UID:
314
Concept ID:
C0003119
Congenital Abnormality
8.

Polydactyly

A congenital abnormality characterized by more than 5 digits on a hand or foot. [from NCI]

MedGen UID:
57774
Concept ID:
C0152427
Congenital Abnormality
9.

Diagnosis

The determination of the nature of a disease or condition, or the distinguishing of one disease or condition from another. Assessment may be made through physical examination, laboratory tests, or the likes. Computerized programs may be used to enhance the decision-making process. [from MeSH]

MedGen UID:
8354
Concept ID:
C0011900
Finding
10.

Cryptorchidism, unilateral or bilateral

Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002). [from GTR]

MedGen UID:
8192
Concept ID:
C0010417
Congenital Abnormality
11.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
12.

Congenital anomalies

MedGen UID:
851041
Concept ID:
CN232116
Disease or Syndrome
13.

Multiple congenital anomalies

MedGen UID:
807337
Concept ID:
CN218431
Finding
14.

Polydactyly

MedGen UID:
776570
Concept ID:
C2117329
Finding
15.

Absence

MedGen UID:
739164
Concept ID:
C1689985
Anatomical Abnormality
16.

Abnormal heart morphology

Any structural anomaly of the heart. [from HPO]

MedGen UID:
504877
Concept ID:
CN001482
Finding
17.

Microphthalmia

A developmental anomaly characterized by abnormal smallness of one or both eyes. [from HPO]

MedGen UID:
504501
Concept ID:
CN000533
Finding
18.

Cryptorchidism

Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis. [from HPO]

MedGen UID:
504309
Concept ID:
CN000029
Finding
19.

Congenital heart defects

MedGen UID:
490004
Concept ID:
CN169364
Disease or Syndrome
20.

Mosaicism

The presence ono more than one genetically distinct cell line in germ and/or somatic cells. [from NCI]

MedGen UID:
452472
Concept ID:
C0392053
Cell or Molecular Dysfunction
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