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Items: 1 to 20 of 41

1.

DiGeorge sequence

Individuals with 22q11.2 deletion syndrome (22q11.2DS) have a range of findings including the following: Congenital heart disease (74% of individuals), particularly conotruncal malformations (tetralogy of Fallot, interrupted aortic arch, ventricular septal defect, and truncus arteriosus). Palatal abnormalities (69%), particularly velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate. Characteristic facial features (present in the majority of individuals of northern European heritage). Learning difficulties (70%-90%). An immune deficiency (regardless of the clinical presentation) (77%). Additional findings include the following: Hypocalcemia (50%). Significant feeding and swallowing problems; constipation with or without structural gastrointestinal anomalies (intestinal malrotation, imperforate anus, and Hirschsprung disease). Renal anomalies (31%). Hearing loss (both conductive and sensorineural). Laryngotracheoesophageal anomalies. Growth hormone deficiency. Autoimmune disorders. Seizures (idiopathic or associated with hypocalcemia). CNS anomalies including tethered cord. Skeletal abnormalities (scoliosis with or without vertebral anomalies, clubbed feet, polydactyly, and craniosynostosis). Ophthalmologic abnormalities (strabismus, posterior embryotoxon, tortuous retinal vessels, scleracornea, and anophthalmia). Enamel hypoplasia. Malignancies (rare). Developmental delay (in particular delays in emergence of language), intellectual disability, and learning differences (non-verbal learning disability where the verbal IQ is significantly greater than the performance IQ) are common. Autism or autistic spectrum disorder is found in approximately 20% of children and psychiatric illness (specifically schizophrenia) is present in 25% of adults; however, attention deficit disorder, anxiety, perseveration, and difficulty with social interactions are also common. [from GTR]

MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
2.

Aortic arch defects

MedGen UID:
831623
Concept ID:
CN197592
Finding
3.

22q11.2 deletion syndrome

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency. [from ORDO]

MedGen UID:
799164
Concept ID:
CN205308
Disease or Syndrome
4.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
5.

Abnormality of the cardiovascular system

Any abnormality of the cardiovascular system. [from HPO]

MedGen UID:
116727
Concept ID:
C0243050
Congenital Abnormality
6.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Usually

A response indicating that something happens or happened most of the time. [from NCI]

MedGen UID:
854883
Concept ID:
C3888388
Finding
8.

Microdeletion syndromes

MedGen UID:
809210
Concept ID:
C1954751
Disease or Syndrome
9.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
10.

22q11 Deletion Syndrome

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. [from MeSH]

MedGen UID:
422333
Concept ID:
C2936346
Disease or Syndrome
11.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
12.

Lymphatism

MedGen UID:
141817
Concept ID:
C0524631
Disease or Syndrome
13.

Lymphatic malformation

Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels. [from MeSH]

MedGen UID:
140763
Concept ID:
C0398368
Anatomical Abnormality
14.

Sequence Deletion

Deletion of sequences of nucleic acids from the genetic material of an individual. [from MeSH]

MedGen UID:
102460
Concept ID:
C0162773
Cell or Molecular Dysfunction
15.

Craniofacial Abnormalities

Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. [from MeSH]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
16.

Congenital anomaly of musculoskeletal system

An abnormality of the musculoskeletal system that is present at birth or detected in the neonatal period. [from NCI]

MedGen UID:
57466
Concept ID:
C0151491
Congenital Abnormality
17.

Vessel

MedGen UID:
56099
Concept ID:
C0148346
Organic Chemical; Pharmacologic Substance
18.

Abnormality of the parathyroid gland

A non-neoplastic or neoplastic disorder that affects the parathyroid glands. Representative examples include hyperparathyroidism, hypoparathyroidism, adenoma, and carcinoma. [from NCI]

MedGen UID:
10583
Concept ID:
C0030517
Disease or Syndrome
19.

Abnormality of the lymphatic system

An anomaly of the lymphatic system, a network of lymphatic vessels that carry a clear fluid called lymph unidirectionally towards either the right lymphatic duct or the thoracic duct, which in turn drain into the right and left subclavian veins respectively. [from HPO]

MedGen UID:
9829
Concept ID:
C0024228
Disease or Syndrome
20.

Multiple congenital anomalies

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

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
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