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Items: 7

1.

Taurine

A conditionally essential nutrient, important during mammalian development. It is present in milk but is isolated mostly from ox bile and strongly conjugates bile acids. [from MeSH]

MedGen UID:
21465
Concept ID:
C0039350
Amino Acid, Peptide, or Protein; Biologically Active Substance; Pharmacologic Substance
2.

Multicentric plasma cell variant of Castleman disease

MedGen UID:
762089
Concept ID:
C3541461
Finding
3.

Malformation of cortical development

A group of neural cortical developmental malformations of diverse genetic causes. Clinical manifestations include epilepsy and developmental delays. [from NCI]

MedGen UID:
364975
Concept ID:
C1955869
Disease or Syndrome
4.

Macular corneal dystrophy Type I

Macular corneal dystrophy (MCD) is an autosomal recessive disorder in which progressive punctate opacities in the cornea result in bilateral loss of vision, eventually necessitating corneal transplantation. MCD is classified into 2 subtypes, type I and type II, defined by the respective absence and presence of sulfated keratan sulfate in the patient serum, although both types have clinically indistinguishable phenotypes (summary by Akama et al., 2000). [from GTR]

MedGen UID:
351514
Concept ID:
C1636149
Disease or Syndrome
5.

Multicentric Angiofollicular Lymphoid Hyperplasia

A form of angiofollicular lymphoid hyperplasia characterized by fever, generalized lymphadenopathy, hypergammaglobulinemia, and dysfunction of multiple organs. Other signs and symptoms include anemia, thrombocytopenia, hepatomegaly, peripheral neuropathy and pleural effusions. Morphologically, in the majority of cases the lymph nodes show features of angiofollicular lymphoid hyperplasia of the plasma cell type. In a minority of cases, changes of angiofollicular lymphoid hyperplasia of the hyaline-vascular type are seen. In contrast to patients with localized disease who are usually cured following resection of the lesion, patients with the multicentric form of the disease may follow a progressive clinical course, complicated by infection, Kaposi sarcoma, or lymphoma. [from NCI]

MedGen UID:
233197
Concept ID:
C1334815
Neoplastic Process
6.

Macular corneal dystrophy

A stromal corneal dystrophy, with autosomal recessive inheritance, that is caused by lack of or abnormal keratan sulfate. [from NCI]

MedGen UID:
44239
Concept ID:
C0024439
Disease or Syndrome
7.

Multiple carboxylase deficiency

A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY. [from MeSH]

MedGen UID:
10119
Concept ID:
C0026755
Disease or Syndrome
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