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Items: 1 to 20 of 28

1.

Syndrome

A characteristic symptom complex. [from MeSH]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
2.

Blepharophimosis

A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures. [from HPO]

MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
3.

Eyelid malformation

MedGen UID:
831737
Concept ID:
CN227799
Finding
4.

Ovarian failure

The inability of the ovaries to function. [from NCI]

MedGen UID:
677092
Concept ID:
C0747102
Disease or Syndrome
5.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
6.

Familial HDL deficiency

MedGen UID:
444154
Concept ID:
C2931838
Disease or Syndrome
7.

Mild

Having a relatively minor degree of severity. For quantitative traits, a deviation of between two and three standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
268697
Concept ID:
C1513302
Finding
8.

Pathogenesis

The pathologic, physiologic, or biochemical mechanism resulting in the development of a disease or morbid process. [from NCI]

MedGen UID:
195936
Concept ID:
C0699748
Pathologic Function
9.

Mutant

An altered form of an individual, organism, population, or genetic character that differs from the corresponding wild type due to one or more alterations (mutations). [from NCI]

MedGen UID:
109303
Concept ID:
C0596988
Cell or Molecular Dysfunction
10.

Blepharophimosis, ptosis, and epicanthus inversus

Blephariphimosis, ptosis, and epicanthus inversus syndrome (BPES) is a complex eyelid malformation invariably characterized by four major features: blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES type I includes the four major features and premature ovarian insufficiency (POI); BPES type II includes only the four major features. Other ophthalmic manifestations that can be associated with BPES include lacrimal duct anomalies, amblyopia, strabismus, and refractive errors. Minor features include a broad nasal bridge, low-set ears, and a short philtrum. Individuals with BPES and an intragenic FOXL2 pathogenic variant are expected to have normal intelligence, in contrast to affected individuals with cytogenetic rearrangements that involve FOXL2 and additional genes. [from GTR]

MedGen UID:
66312
Concept ID:
C0220663
Disease or Syndrome
11.

Diffuse

A spatial pattern that is spread out, i.e., not localized. [from HPO]

MedGen UID:
61387
Concept ID:
C0205219
Spatial Concept
12.

Negative

An absence finding of the specified component / analyte, organism or clinical sign based on the established threshold of the performed test or procedure. [Note: Negative does not necessarily imply the complete absence of the specified item.].  [from HL7]

MedGen UID:
61377
Concept ID:
C0205160
Finding
13.

Premature ovarian failure

Premature ovarian failure is clearly a heterogeneous disorder. The terms 'hypergonadotropic ovarian failure' and 'hypergonadotropic ovarian dysgenesis' (see ODG1, 233300) have been used to indicate a group of disorders in which amenorrhea associated with elevated levels of serum gonadotropins occurs long before the age of 40 years (Coulam, 1982). Cytogenetic studies of X-chromosome aberrations have suggested that it is mainly the long arm of the X chromosome that is involved in defects of ovulation (Bione et al., 1998). Genetic Heterogeneity of Premature Ovarian Failure Mutations in genes identified within a region defined as POF2 (Xq13.3-q21.1) have been found to cause other forms of POF: POF2A (300511) by mutation in the DIAPH2 gene (300108) and POF2B (300604) by mutation in the POF1B gene (300603). See also POF3 (608996), caused by mutation in the FOXL2 gene (605597) on chromosome 3q22; POF4 (see 300510), caused by mutation in the BMP15 gene (300247) on chromosome Xp11; POF5 (611548), caused by mutation in the NOBOX gene (610934) on chromosome 7q35; POF6 (612310), caused by mutation in the FIGLA gene (608697) on chromosome 2p13; POF7 (612964), caused by mutation in the NR5A1 gene (184757) on chromosome 9q33; POF8 (615723), caused by mutation in the STAG3 gene (608489) on chromosome 7q22; POF9 (615724), caused by mutation in the HFM1 gene (615684) on chromosome 1p22; POF10 (612885), caused by mutation in the MCM8 gene (608187) on chromosome 20p12; POF11 (616946), caused by mutation in the ERCC6 gene (609413) on chromosome 10q11; POF12 (616947), caused by mutation in the SYCE1 gene (611486) on chromosome 10q26; and POF13 (617442), caused by mutation in the MSH5 gene (603382) on chromosome 6p22. [from GTR]

MedGen UID:
38820
Concept ID:
C0085215
Disease or Syndrome
14.

Premature ovarian failure

Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive. [from NCI]

MedGen UID:
9963
Concept ID:
C0025322
Disease or Syndrome
15.

Disorder of eyelid

Any disease affecting the eyelid. [from NCI]

MedGen UID:
41938
Concept ID:
C0015423
Disease or Syndrome
16.

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES. [from MeSH]

MedGen UID:
14319
Concept ID:
C0027612
Congenital Abnormality; Disease or Syndrome
17.

UPREG

A positive regulatory effect on physiological processes at the molecular, cellular, or systemic level. At the molecular level, the major regulatory sites include membrane receptors, genes (GENE EXPRESSION REGULATION), mRNAs (RNA, MESSENGER), and proteins. [from MeSH]

MedGen UID:
12003
Concept ID:
C0041904
Molecular Function
18.

Eye disease

A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma. [from NCI]

MedGen UID:
5092
Concept ID:
C0015397
Disease or Syndrome
19.

Congenital anomaly of eye

A disorder of the eye that is present at birth. Representative examples include congenital cataract, congenital glaucoma, and astigmatism. [from NCI]

MedGen UID:
4623
Concept ID:
C0015393
Disease or Syndrome
20.

Developmental abnormality

Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period. [from NCI]

MedGen UID:
1254
Concept ID:
C0000768
Congenital Abnormality
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