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Results: 10

1.

Prolidase deficiency

Prolidase deficiency is a rare autosomal recessive multisystem disorder associated with massive imidodipeptiduria and lack of or reduced prolidase activity in erythrocytes, leukocytes, or cultured fibroblasts. The disorder is clinically heterogeneous and severity varies widely. Features include chronic, slowly healing ulcerations, mainly on the legs and feet. The ulcers are often preceded by other dermatologic manifestations that may occur anywhere and include erythematous papular eruptions, telangiectasias with pruritus and photosensitivity, impetigo-like eruptions, pruritic eczematous lesions, and necrotic papules. Mild to severe mental retardation is often a feature, and recurrent respiratory tract infections, sometimes fatal, are common. Facial dysmorphism may include low hairline and hirsutism, saddle nose, ocular hypertelorism, micrognathia, a high-arched palate, mandibular protrusion, and exophthalmos. Clinical manifestations are usually detectable after birth or in early childhood, but late-onset cases have been reported (summary by Lupi et al., 2008). [from OMIM]

MedGen UID:
120647
Concept ID:
C0268532
Disease or Syndrome
2.

Prolidase deficiency

MedGen UID:
798060
Concept ID:
CN205675
Disease or Syndrome
3.

Paroxysmal extreme pain disorder

Paroxysmal extreme pain disorder, formerly known as familial rectal pain, is characterized by paroxysms of rectal, ocular, or submandibular pain with flushing (Fertleman et al., 2006). [from OMIM]

MedGen UID:
331565
Concept ID:
C1833661
Disease or Syndrome
4.

Autosomal recessive inheritance

Autosomal recessive inheritance refers to genetic conditions that occur only when mutations are present in both copies of a given gene (i.e., the person is homozygous for a mutation, or carries two different mutations of the same gene, a state referred to as compound heterozygosity). [from NCI]

MedGen UID:
141025
Concept ID:
C0441748
5.

Asymptomatic

The finding of no indications of a particular disease or injury. [from NCI]

MedGen UID:
65413
Concept ID:
C0231221
Finding
6.

Skin tag

A benign polypoid tumor comprising fibrous tissue and epithelium. [from NCI]

MedGen UID:
11452
Concept ID:
C0037293
Neoplastic Process
7.

Influenza

An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia. [from MeSH]

MedGen UID:
9466
Concept ID:
C0021400
Disease or Syndrome
8.

Chronic granulomatous disease

A recessive X-linked defect of leukocyte function in which phagocytic cells ingest but fail to digest bacteria, resulting in recurring bacterial infections with granuloma formation. [from MeSH]

MedGen UID:
5377
Concept ID:
C0018203
Disease or Syndrome
9.

Deficiency of dipeptidase

MedGen UID:
713799
Concept ID:
C1291498
Disease or Syndrome
10.

Pulse rate stable

MedGen UID:
661317
Concept ID:
C0577837
Finding

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