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Items: 13

1.

LYMPHOMA, NON-HODGKIN, SOMATIC

MedGen UID:
864721
Concept ID:
C4016284
Neoplastic Process
2.

MALIGNANT MELANOMA, SOMATIC

MedGen UID:
864720
Concept ID:
C4016283
Neoplastic Process
3.

adenocarcinoma of lung, somatic

MedGen UID:
854231
Concept ID:
C3838632
Neoplastic Process
4.

follicular thyroid carcinoma, somatic

MedGen UID:
854223
Concept ID:
C3837430
Neoplastic Process
5.

papillary thyroid carcinoma, somatic

MedGen UID:
854217
Concept ID:
C3836559
Neoplastic Process
6.

NONSEMINOMATOUS GERM CELL TUMORS, SOMATIC

MedGen UID:
478866
Concept ID:
C3277236
Neoplastic Process
7.

COLON CANCER, SOMATIC

MedGen UID:
477831
Concept ID:
C3276201
Finding
8.

LEOPARD syndrome 3

Noonan syndrome with multiple lentigines (NSML) is a condition in which the cardinal features consist of lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features, including widely spaced eyes and ptosis. Multiple lentigines present as dispersed flat, black-brown macules, mostly on the face, neck and upper part of the trunk with sparing of the mucosa. In general, lentigines do not appear until age four to five years but then increase to the thousands by puberty. Some individuals with NSML do not exhibit lentigines. Approximately 85% of affected individuals have heart defects, including hypertrophic cardiomyopathy (HCM) (typically appearing during infancy and sometimes progressive) and pulmonary valve stenosis. Postnatal growth retardation resulting in short stature occurs in fewer than 50% of affected persons, although most affected individuals have a height that is less than the 25(th) percentile for age. Sensorineural hearing deficits, present in approximately 20%, are poorly characterized. Intellectual disability, typically mild, is observed in approximately 30% of persons with NSML. [from GeneReviews]

MedGen UID:
462321
Concept ID:
C3150971
Disease or Syndrome
9.

Noonan syndrome 7

Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital heart defect, and developmental delay of variable degree. Other findings can include broad or webbed neck, unusual chest shape with superior pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. Pulmonary valve stenosis, often with dysplasia, is the most common heart defect and is found in 20%-50% of individuals. Hypertrophic cardiomyopathy, found in 20%-30% of individuals, may be present at birth or develop in infancy or childhood. Other structural defects include atrial and ventricular septal defects, branch pulmonary artery stenosis, and tetralogy of Fallot. Up to one fourth of affected individuals have mild intellectual disability, and language impairments in general are more common in NS than in the general population. [from GeneReviews]

MedGen UID:
462320
Concept ID:
C3150970
Disease or Syndrome
10.

Astrocytoma, low-grade, somatic

MedGen UID:
436244
Concept ID:
C2674727
Finding
11.

NONSMALL CELL LUNG CANCER, SOMATIC

MedGen UID:
409818
Concept ID:
C1969389
Finding
12.

colorectal cancer, somatic

MedGen UID:
331630
Concept ID:
C1833970
Neoplastic Process
13.

Cardio-facio-cutaneous syndrome

Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema ophryogenes, eczema, pigmented moles, hemangiomas, and palmoplantar hyperkeratosis). The hair is typically sparse, curly, fine or thick, woolly or brittle; eyelashes and eyebrows may be absent or sparse. Nails may be dystrophic or fast growing. Some form of neurologic and/or cognitive delay (ranging from mild to severe) is seen in all affected individuals. Neoplasia, mostly acute lymphoblastic leukemia (ALL), has been reported in some individuals. [from GeneReviews]

MedGen UID:
266149
Concept ID:
C1275081
Congenital Abnormality
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