Display Settings:

Format
Items per page

Send to:

Choose Destination
We are sorry, but NCBI web applications do not support your browser and may not function properly. More information

Results: 1 to 20 of 84

1.

Head & Shoulders brand of selenium disulfide

MedGen UID:
280641
Concept ID:
C1531398
Pharmacologic Substance
2.

Speech delay

MedGen UID:
66827
Concept ID:
C0241210
Mental or Behavioral Dysfunction
3.

Sotos' syndrome

Sotos syndrome is characterized by the cardinal features of typical facial appearance, overgrowth (height and/or head circumference =2 SD above the mean), and learning disability ranging from mild (children attend mainstream schools and are likely to be independent as adults) to severe (lifelong care and support will likely be required). Sotos syndrome is associated with the major features of behavioral problems, congenital cardiac anomalies, neonatal jaundice, renal anomalies, scoliosis, and seizures. [from GeneReviews]

MedGen UID:
61232
Concept ID:
C0175695
Congenital Abnormality
4.

Microcephalus

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.) [from MeSH]

MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality
5.

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
6.

Delayed speech and language development

A degree of language development that is significantly below the norm for a child of a specified age. [from HPO]

MedGen UID:
504583
Concept ID:
CN000706
Finding
7.

Speech delay

MedGen UID:
472108
Concept ID:
CN130030
Disease or Syndrome
8.

Height / growth measure

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

MedGen UID:
452503
Concept ID:
C0424639
Finding
9.

Error occurred: cannot get document summary

ID:
441288

10.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome
11.

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
12.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
13.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
14.

Microcephaly

MedGen UID:
337454
Concept ID:
C1845868
Finding
15.

Short stature

MedGen UID:
87607
Concept ID:
C0349588
Finding
16.

Haploinsufficiency

A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient. [from MeSH]

MedGen UID:
424691
Concept ID:
C2936267
Cell or Molecular Dysfunction
17.

Macrocephaly

An abnormally large head. Causes include hydrocephalus, enlarged brain, and cranial hyperostosis. [from NCI]

MedGen UID:
65141
Concept ID:
C0221355
Congenital Abnormality
18.

Disease

Any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. The term is often used broadly to include injuries, disabilities, syndromes, symptoms, deviant behaviors, and atypical variations of structure and function. [from NCI]

MedGen UID:
4347
Concept ID:
C0012634
Disease or Syndrome
19.

Macrocephaly

MedGen UID:
745757
Concept ID:
C2243051
Anatomical Abnormality
20.

Dysmorphism

MedGen UID:
740569
Concept ID:
C1737329
Congenital Abnormality

Display Settings:

Format
Items per page

Send to:

Choose Destination

Supplemental Content

Find related data

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...