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Results: 1 to 20 of 24

1.

Ependymoma

Ependymomas are rare glial tumors of the brain and spinal cord (Yokota et al., 2003). [from OMIM]

MedGen UID:
41825
Concept ID:
C0014474
Neoplastic Process
2.

Diagnosis

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

MedGen UID:
8354
Concept ID:
C0011900
Finding
3.

Carcinoma

type of cancer [from CHV]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
4.

Error occurred: cannot get document summary

ID:
807765

5.

SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME

MedGen UID:
762199
Concept ID:
C3542022
Disease or Syndrome
6.

Detected

MedGen UID:
617726
Concept ID:
C0442726
Finding
7.

Ependymoma

The presence of an ependymoma of the central nervous system. [from HPO]

MedGen UID:
505390
Concept ID:
CN002611
Finding
8.

Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis

SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). [from OMIM]

MedGen UID:
472512
Concept ID:
CN143712
Disease or Syndrome
9.

Staining (finding)

MedGen UID:
352872
Concept ID:
C1704680
Finding
10.

Thymus Epithelial Neoplasm

MedGen UID:
220416
Concept ID:
C1266101
Neoplastic Process
11.

Remission phase

Diminution or disappearance of symptoms. [from PSY]

MedGen UID:
154255
Concept ID:
C0544452
Finding
12.

Severe

A term used to describe cells that look abnormal under a microscope. These cells are more likely to grow and spread quickly than cells in low-grade cancer or in growths that may become cancer. [from NCI]

MedGen UID:
104640
Concept ID:
C0205082
13.

Glutaric aciduria, type 2

Glutaric aciduria II (GA II) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003). The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001). Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009). [from OMIM]

MedGen UID:
75696
Concept ID:
C0268596
Disease or Syndrome
14.

Spinal muscular atrophy

Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMA associated with disease-causing mutations of SMN1 spans a continuum without clear delineation of subtypes. Nonetheless, classification by age of onset and maximum function achieved is useful for prognosis and management; subtypes include: SMA 0 (proposed), with prenatal onset and severe joint contractures, facial diplegia, and respiratory failure; SMA I, with onset before age six months; SMA II, with onset between age six and 12 months; SMA III, with onset in childhood after age 12 months and ability to walk at least 25 meters achieved; and SMA IV, with adult onset. [from GeneReviews]

MedGen UID:
7755
Concept ID:
C0026847
Disease or Syndrome
15.

Rhabdoid Tumor

A malignant tumor of either the central nervous system (CNS) or the kidney. Malignant rhabdoid tumors of the CNS often have an abnormality of chromosome 22. These tumors usually occur in children younger than 2 years. [from NCI_NCI-GLOSS]

MedGen UID:
64646
Concept ID:
C0206743
Neoplastic Process
16.

Neoplasms, Complex and Mixed

Neoplasms composed of more than one type of neoplastic tissue. [from MeSH]

MedGen UID:
60223
Concept ID:
C0206764
Neoplastic Process
17.

Neoplasms by Histologic Type

A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers. [from MeSH]

MedGen UID:
10295
Concept ID:
C0027652
Neoplastic Process
18.

Patient in early remission

MedGen UID:
736764
Concept ID:
C1562799
Finding
19.

Primary malignant neoplasm of central nervous system

MedGen UID:
733468
Concept ID:
C1455806
Neoplastic Process
20.

Liver soft

MedGen UID:
660615
Concept ID:
C0577049
Finding

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