From HPO
Carcinoma- MedGen UID:
- 2867
- •Concept ID:
- C0007097
- •
- Neoplastic Process
A malignant tumor arising from epithelial cells. Carcinomas that arise from glandular epithelium are called adenocarcinomas, those that arise from squamous epithelium are called squamous cell carcinomas, and those that arise from transitional epithelium are called transitional cell carcinomas (NCI Thesaurus).
Fibroma- MedGen UID:
- 42016
- •Concept ID:
- C0016045
- •
- Neoplastic Process
Benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
Desmoid tumor- MedGen UID:
- 38187
- •Concept ID:
- C0079218
- •
- Neoplastic Process
Benign, slow-growing tumors without any metastatic potential. Despite their benign nature, they can damage nearby structures causing organ dysfunction. Histologically they resemble low-grade fibrosarcomas, but they are very locally aggressive and tend to recur even after complete resection. There is a tendency for recurrence in the setting of prior surgery and the most common localisation of these tumors is intraabdominal from smooth muscle cells of the instestine.
Hepatoblastoma- MedGen UID:
- 61644
- •Concept ID:
- C0206624
- •
- Neoplastic Process
A kind of neoplasm of the liver that originates from immature liver precursor cells and macroscopically is composed of tissue resembling fetal or mature liver cells or bile ducts.
Adrenocortical adenoma- MedGen UID:
- 61654
- •Concept ID:
- C0206667
- •
- Neoplastic Process
Adrenocortical adenomas are benign tumors of the adrenal cortex.
Adrenal cortex carcinoma- MedGen UID:
- 104917
- •Concept ID:
- C0206686
- •
- Neoplastic Process
A malignant neoplasm of the adrenal cortex that may produce hormones such as cortisol, aldosterone, estrogen, or testosterone.
Papillary thyroid carcinoma- MedGen UID:
- 66773
- •Concept ID:
- C0238463
- •
- Neoplastic Process
The presence of a papillary adenocarcinoma of the thyroid gland.
Multiple lipomas- MedGen UID:
- 677074
- •Concept ID:
- C0745730
- •
- Finding
The presence of multiple lipomas (a type of benign tissue made of fatty tissue).
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.
Odontoma- MedGen UID:
- 45181
- •Concept ID:
- C0028882
- •
- Neoplastic Process
The presence of an odontoma.
Gastric polyposis- MedGen UID:
- 68629
- •Concept ID:
- C0236048
- •
- Disease or Syndrome
A polyp that arises from the stomach. This category includes neoplastic polyps (intestinal-type adenomatous polyps, gastric-type adenomas, and fundic gland polyps), and non-neoplastic polyps (hyperplastic polyps and hamartomatous polyps).
Duodenal adenocarcinoma- MedGen UID:
- 82985
- •Concept ID:
- C0278804
- •
- Neoplastic Process
A malignant epithelial tumor with a glandular organization that originates in the duodenum.
Duodenal polyposis- MedGen UID:
- 488924
- •Concept ID:
- C0578477
- •
- Neoplastic Process
Presence of multiple polyps in the duodenum.
Adenomatous colonic polyposis- MedGen UID:
- 358118
- •Concept ID:
- C1868071
- •
- Finding
Presence of multiple adenomatous polyps in the colon.
Small intestine carcinoid- MedGen UID:
- 356894
- •Concept ID:
- C1868072
- •
- Finding
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.
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.
Keloid- MedGen UID:
- 7197
- •Concept ID:
- C0022548
- •
- Acquired Abnormality
An irregularly shaped, elevated mark on the skin caused by deposits of excessive amounts of collagen during wound healing. It extends beyond the original boundaries of the wound and may enlarge progressively.
Osteoma- MedGen UID:
- 18220
- •Concept ID:
- C0029440
- •
- Neoplastic Process
Osteomas are bony growths found most commonly on the skull and mandible; however, they may occur in any bone of the body. Osteomas do not usually cause clinical problems and do not become malignant.
Carious teeth- MedGen UID:
- 8288
- •Concept ID:
- C0011334
- •
- Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Teeth, supernumerary- MedGen UID:
- 21210
- •Concept ID:
- C0040457
- •
- Anatomical Abnormality
The presence of one or more teeth additional to the normal number.
Eruption failure- MedGen UID:
- 11856
- •Concept ID:
- C0040458
- •
- Finding
A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential.
Epidermoid cysts- MedGen UID:
- 41829
- •Concept ID:
- C0014511
- •
- Anatomical Abnormality
Nontender, round and firm, but slightly compressible, intradermal or subcutaneous cyst measuring 0.5-5 cm in diameter. Epidermal cysts are intradermal or subcutaneous tumors, grow slowly and occur on the face, neck, back and scrotum. They usually appear at or around puberty, and as a rule an affected individual has one solitary or a few cysts.
Hyperpigmentation of the skin- MedGen UID:
- 57992
- •Concept ID:
- C0162834
- •
- Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Fibroadenoma of the breast- MedGen UID:
- 64231
- •Concept ID:
- C0178421
- •
- Neoplastic Process
A benign biphasic tumor of the breast with epithelial and stromal components.
Congenital hypertrophy of retinal pigment epithelium- MedGen UID:
- 83290
- •Concept ID:
- C0339555
- •
- Finding
Sharply demarcated, congenital hyperpigmentation of the retinal pigment epithelium.
- Abnormality of head or neck
- Abnormality of the breast
- Abnormality of the digestive system
- Abnormality of the eye
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Neoplasm