From HPO
Non-Hodgkin lymphoma- MedGen UID:
- 6160
- •Concept ID:
- C0024305
- •
- Neoplastic Process
A type of lymphoma characterized microscopically by the absence of multinucleated Reed-Sternberg cells.
Colon cancer- MedGen UID:
- 2839
- •Concept ID:
- C0007102
- •
- Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
Adenomatous colonic polyposis- MedGen UID:
- 358118
- •Concept ID:
- C1868071
- •
- Finding
Presence of multiple adenomatous polyps in the colon.
Astrocytoma- MedGen UID:
- 438
- •Concept ID:
- C0004114
- •
- Neoplastic Process
Astrocytoma is a neoplasm of the central nervous system derived from astrocytes. Astrocytes are a type of glial cell, and thus astrocytoma is a subtype of glioma.
Corpus callosum, agenesis of- MedGen UID:
- 104498
- •Concept ID:
- C0175754
- •
- Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600).
Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Gray matter heterotopia- MedGen UID:
- 452349
- •Concept ID:
- C0266491
- •
- Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Glioblastoma multiforme- MedGen UID:
- 301585
- •Concept ID:
- C1621958
- •
- Neoplastic Process
A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation.
Cafe au lait spots, multiple- MedGen UID:
- 396266
- •Concept ID:
- C1861975
- •
- Disease or Syndrome
The presence of six or more cafe-au-lait spots.
- Abnormality of the digestive system
- Abnormality of the integument
- Abnormality of the nervous system
- Neoplasm