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Items: 8

1.

Neurofibromas

A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72) [from MeSH]

MedGen UID:
58149
Concept ID:
C0162678
Neoplastic Process
2.

Plexiform neurofibroma

A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. [from HPO]

MedGen UID:
64640
Concept ID:
C0206728
Neoplastic Process
3.

Joint hyperflexibility

MedGen UID:
766678
Concept ID:
C3553764
Finding
4.

Subcutaneous neurofibromas

The presence of Neurofibromas in the subcutis. [from HPO]

MedGen UID:
741742
Concept ID:
C1827970
Neoplastic Process
5.

Pes cavus

The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight. [from HPO]

MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
6.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
107838
Concept ID:
C0557874
Finding; Mental or Behavioral Dysfunction
7.

Perineurioma

A rare, almost always benign tumor composed entirely of neoplastic perineurial cells. It may occur in the soft tissues, intraneurally or in mucosal sites. [from NCI]

MedGen UID:
199712
Concept ID:
C0751691
Neoplastic Process
8.

Café-au-lait macules with pulmonary stenosis

Watson syndrome is an autosomal dominant disorder characterized by pulmonic stenosis, cafe-au-lait spots, decreased intellectual ability (Watson, 1967), and short stature (Partington et al., 1985). Most affected individuals have relative macrocephaly and Lisch nodules and about one-third of those affected have neurofibroma (Allanson et al., 1991). [from OMIM]

MedGen UID:
107817
Concept ID:
C0553586
Disease or Syndrome
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