From HPO
Leukemia- MedGen UID:
- 9725
- •Concept ID:
- C0023418
- •
- Neoplastic Process
A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes.
Lymphoma- MedGen UID:
- 44223
- •Concept ID:
- C0024299
- •
- Neoplastic Process
A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.
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.
Neuroblastoma- MedGen UID:
- 18012
- •Concept ID:
- C0027819
- •
- Neoplastic Process
ALK-related neuroblastic tumor susceptibility is characterized by increased risk for neuroblastic tumors including neuroblastoma, ganglioneuroblastoma, and ganglioneuroma. Neuroblastoma is a more malignant tumor and ganglioneuroma a more benign tumor. Depending on the histologic findings, ganglioneuroblastoma can behave in a more aggressive fashion, like neuroblastoma, or in a benign fashion, like ganglioneuroma. Preliminary data from the ten reported families with ALK-related neuroblastic tumor susceptibility suggest an overall penetrance of approximately 57% with the risk for neuroblastic tumor development highest in infancy and decreasing by late childhood.
Rhabdomyosarcoma- MedGen UID:
- 20561
- •Concept ID:
- C0035412
- •
- Neoplastic Process
A malignant soft tissue tumor which develops from cells of striated muscle. It is the most common form of tumor found in children and adolescents.
T-cell lymphoma- MedGen UID:
- 86957
- •Concept ID:
- C0079772
- •
- Neoplastic Process
A type of lymphoma that originates in T-cells.
Skin basal cell carcinoma- MedGen UID:
- 1648304
- •Concept ID:
- C4721806
- •
- Neoplastic Process
The presence of a basal cell carcinoma of the skin.
Small intestine adenocarcinoma- MedGen UID:
- 82984
- •Concept ID:
- C0278803
- •
- Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the small intestine.
Colon adenocarcinoma- MedGen UID:
- 137834
- •Concept ID:
- C0338106
- •
- Neoplastic Process
An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
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.
Ependymoma- MedGen UID:
- 41825
- •Concept ID:
- C0014474
- •
- Neoplastic Process
The presence of an ependymoma of the central nervous system.
Medulloblastoma- MedGen UID:
- 7517
- •Concept ID:
- C0025149
- •
- Neoplastic Process
Medulloblastoma is the most common brain tumor in children. It accounts for 16% of all pediatric brain tumors, and 40% of all cerebellar tumors in childhood are medulloblastoma. Medulloblastoma occurs bimodally, with peak incidences between 3 and 4 years and 8 and 9 years of age. Approximately 10 to 15% of medulloblastomas are diagnosed in infancy. Medulloblastoma accounts for less than 1% of central nervous system (CNS) tumors in adults, with highest incidence in adults 20 to 34 years of age. In 1 to 2% of patients, medulloblastoma is associated with Gorlin syndrome (109400), a nevoid basal carcinoma syndrome. Medulloblastoma also occurs in up to 40% of patients with Turcot syndrome (see 276300). Medulloblastoma is thought to arise from neural stem cell precursors in the granular cell layer of the cerebellum. Standard treatment includes surgery, chemotherapy, and, depending on the age of the patient, radiation therapy (Crawford et al., 2007).
Millard and De Braganca (2016) reviewed the histopathologic variants and molecular subgroups of medulloblastoma. Pretreatment prognosis of medulloblastoma has been refined by histopathologic subclassification into the following variants: large-cell medulloblastoma, anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity (MBEN). The latter 2 groups have been shown to have a significantly superior prognosis as compared to the large cell and anaplastic groups in young children. At the molecular level, medulloblastomas have been categorized into the following subgroups: wingless (WNT), sonic hedgehog (SHH), group 3, and group 4. Each subgroup is characterized by a unique set of genetics and gene expression as well as demographic and clinical features.
Oligodendroglioma- MedGen UID:
- 45190
- •Concept ID:
- C0028945
- •
- Neoplastic Process
Oligodendroglioma is a type of diffusely infiltrating glioma and constitutes approximately 5% of primary intracranial tumors. They often involve the cortical gray matter and are most commonly seen in the frontal lobes. OGs are generally low grade WHO grade II neoplasms that are slow-growing tumors and have a favorable treatment response when compared to other gliomas. Grade III anaplastic OG is a more malignant form of the tumor which portends a less favorable prognosis and may occur de novo or as degeneration from the lower grade OG.
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.
Plexiform neurofibroma- MedGen UID:
- 64640
- •Concept ID:
- C0206728
- •
- Neoplastic Process
A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure.
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.
Pleomorphic xanthoastrocytoma- MedGen UID:
- 137786
- •Concept ID:
- C0334586
- •
- Neoplastic Process
Pleomorphic xanthoastrocytomas (PXA) are rare low-grade astrocytomas (WHO Grade II) typically found in the temporal lobe and classically presenting with epilepsy. PXA is an astrocytic neoplasm that most often presents in children or young adults but can also occur in adults. The diagnosis of anaplastic PXA is made based upon tumor histopathologic characteristics and requires increased proliferative activity (mitotic index at least 5 mitoses/10 HPF), which is associated with worse overall survival. In general, anaplastic PXAs acquire features of a more aggressive astrocytic neoplasm that can include increased proliferation, necrosis, microvascular proliferation, loss of pericellular reticulin, and increased infiltrative growth.
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.
Hypopigmentation of the skin- MedGen UID:
- 102477
- •Concept ID:
- C0162835
- •
- Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Axillary freckling- MedGen UID:
- 348082
- •Concept ID:
- C1860335
- •
- Finding
The presence in the axillary region (armpit) of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.
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