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Items: 1 to 20 of 34

1.

Follicular atrophoderma and basal cell epitheliomata

Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. [from OMIM]

MedGen UID:
87539
Concept ID:
C0346104
Neoplastic Process
2.

Hypotrichosis

Congenital lack of hair growth. [from HPO]

MedGen UID:
6993
Concept ID:
C0020678
Congenital Abnormality; Finding; Finding
3.

Basal cell carcinoma

The presence of a basal cell carcinoma of the skin. [from HPO]

MedGen UID:
505327
Concept ID:
CN002427
Finding
4.

Dermal atrophy

Partial or complete wasting (atrophy) of the skin. [from HPO]

MedGen UID:
101793
Concept ID:
C0151514
Disease or Syndrome
5.

Follicular atrophoderma

MedGen UID:
98354
Concept ID:
C0406563
Disease or Syndrome
6.

Carcinoma, Basal Cell

A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471) [from MeSH]

MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
7.

Hyphidrosis

Abnormally diminished capacity to sweat. [from HPO]

MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
8.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI_NCI-GLOSS]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
9.

Diagnosis

Description:The source act is intended to help establish the presence of a (an adverse) situation described by the target act. This is not limited to diseases but can apply to any adverse situation or condition of medical or technical nature.  [from HL7]

MedGen UID:
8354
Concept ID:
C0011900
Finding
10.

Multiple congenital anomalies

Congenital abnormalities that affect more than one organ or body structure. [from MeSH]

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
11.

Carcinoma

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). [from HPO]

MedGen UID:
2867
Concept ID:
C0007097
Neoplastic Process
12.

Carcinoma

MedGen UID:
910818
Concept ID:
CN241453
Finding
13.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
14.

History of previous events

The aggregate of past events; the continuum of events occurring in succession leading from the past to the present; a record or narrative description of past events. [from NCI]

MedGen UID:
389153
Concept ID:
C2004062
Finding
15.

X-linked dominant inheritance

A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation. [from HPO]

MedGen UID:
376232
Concept ID:
C1847879
Finding
16.

Coarse hair

Increased density of hairs, i.e., and elevated number of hairs per unit area. [from HPO]

MedGen UID:
124454
Concept ID:
C0277959
Finding; Finding
17.

Hypohidrosis

MedGen UID:
108211
Concept ID:
C0553721
Finding
18.

Localized

Being confined or restricted to a particular location. [from HPO]

MedGen UID:
98236
Concept ID:
C0392752
Spatial Concept
19.

Milia

Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin. [from HPO]

MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
20.

History of

A record of a patient's background regarding health and the occurrence of disease events of the individual. In addition, personal medical history may be a variable in epidemiologic studies. [from NCI]

MedGen UID:
82657
Concept ID:
C0262926
Finding
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