From HPO
Nephroblastoma- MedGen UID:
- 10221
- •Concept ID:
- C0027708
- •
- Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Embryonal rhabdomyosarcoma- MedGen UID:
- 104910
- •Concept ID:
- C0206656
- •
- Neoplastic Process
A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.
Pleuropulmonary blastoma- MedGen UID:
- 266105
- •Concept ID:
- C1266144
- •
- Neoplastic Process
DICER1 tumor predisposition (DICER1) is characterized by an increased risk for pleuropulmonary blastoma (PPB), pulmonary cysts, thyroid gland neoplasia (multinodular goiter, adenomas, and/or thyroid cancer), ovarian tumors (Sertoli-Leydig cell tumor, gynandroblastoma, and sarcoma), and cystic nephroma. Less commonly observed tumors include ciliary body medulloepithelioma, nasal chondromesenchymal hamartoma, embryonal rhabdomyosarcoma, pituitary blastoma, pineoblastoma, central nervous system (CNS) sarcoma, other CNS tumors, and presacral malignant teratoid tumor. The majority of tumors occur in individuals younger than age 40 years. PPB typically presents in infants and children younger than age six years. Ovarian sex cord-stromal tumors are most often diagnosed before age 40 years. Cystic nephroma generally presents in young children but has also been reported in adolescents. Additional clinical features that may be seen include macrocephaly, ocular abnormalities, structural anomalies of the kidney and collecting system, and dental anomalies (bulbous crowns).
Ovarian thecoma- MedGen UID:
- 364155
- •Concept ID:
- C1882229
- •
- Neoplastic Process
A sex cord-stromal tumor of the ovary. Thecomas range from small tumors to large solid or solid-cystic masses of up to 15 cm. They are unilateral in over 90 percent of cases and are rarely malignant. Thecomas are stromal tumors made up of cells that resemble theca cells, lutein cells and fibroblasts. They are traditionally classified within the sex cord-stromal tumor category of ovarian tumor types.
Goiter- MedGen UID:
- 42270
- •Concept ID:
- C0018021
- •
- Disease or Syndrome
An enlargement of the thyroid gland.
Thyroid nodule- MedGen UID:
- 21547
- •Concept ID:
- C0040137
- •
- Neoplastic Process
A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland.
Multinodular goiter- MedGen UID:
- 87431
- •Concept ID:
- C0342208
- •
- Disease or Syndrome
Enlargement of the thyroid gland related to multiple nodules in the thyroid gland.
- Abnormality of the endocrine system
- Neoplasm