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Results: 1 to 20 of 58

1.

Osteodystrophy

MedGen UID:
538258
Concept ID:
C0264009
Congenital Abnormality
2.

Albright's hereditary osteodystrophy

MedGen UID:
419072
Concept ID:
C2931404
Disease or Syndrome
3.

Brachydactyly-Mental Retardation syndrome

2q37 microdeletion syndrome is characterized by mild-moderate developmental delay/intellectual disability, brachymetaphalangy of digits 3-5 (often digit 4 alone) (>50%), short stature, obesity, hypotonia, characteristic facial appearance, autism or autism spectrum disorder (30%), joint hypermobility/dislocation, and scoliosis. Other findings include seizures (20%-35%), congenital heart disease, CNS abnormalities (hydrocephalus, dilated ventricles), umbilical/inguinal hernia, tracheomalacia, situs abnormalities, gastrointestinal abnormalities, and renal malformations. Wilms tumor has been reported in two individuals. [from GeneReviews]

MedGen UID:
373895
Concept ID:
C1838126
Disease or Syndrome
4.

Brachydactyly

Congenital anomaly of abnormally short fingers or toes. [from MeSH]

MedGen UID:
67454
Concept ID:
C0221357
Disease or Syndrome
5.

Obesity

A disorder characterized by having a high amount of body fat. [from NCI]

MedGen UID:
18127
Concept ID:
C0028754
Disease or Syndrome
6.

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]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
7.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
8.

Monosomy

The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. [from MeSH]

MedGen UID:
6432
Concept ID:
C0026499
Congenital Abnormality
9.

Brachydactyly syndrome

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely. [from HPO]

MedGen UID:
500899
Concept ID:
CN001088
Finding
10.

Height / growth measure

The height of a person while standing. [from NCI]

MedGen UID:
452503
Concept ID:
C0424639
Finding
11.

Error occurred: cannot get document summary

ID:
449670

12.

Short stature, idiopathic, X-linked

Idiopathic short stature is usually defined as a height below the third percentile for chronological age or minus 2 standard deviations (SD) of national height standards in the absence of specific causative disorders (Rao et al., 1997). For a discussion of genetic heterogeneity of quantitative trait loci for stature, see STQTL1 (606255). [from OMIM]

MedGen UID:
375584
Concept ID:
C1845118
Disease or Syndrome
13.

Obesity

MedGen UID:
368429
Concept ID:
C1963185
Finding
14.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
15.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
16.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
17.

Short stature

MedGen UID:
87607
Concept ID:
C0349588
Finding
18.

Disorder of hyperalimentation

An imbalanced nutritional status resulted from excessive intake of nutrients. Generally, overnutrition generates an energy imbalance between food consumption and energy expenditure leading to disorders such as OBESITY. [from MeSH]

MedGen UID:
219760
Concept ID:
C1257763
Disease or Syndrome
19.

Mental deficiency

MedGen UID:
214593
Concept ID:
C0917816
Mental or Behavioral Dysfunction
20.

Congenital anomaly of upper limb

Congenital structural abnormalities of the UPPER EXTREMITY. [from MeSH]

MedGen UID:
152892
Concept ID:
C0749794
Congenital Abnormality

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