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Items: 1 to 20 of 57

1.

Proportionate short stature; mild intellectual disability; dysmorphic facial features; precocious puberty

MedGen UID:
850705
Concept ID:
CN231399
Finding
2.

Collagenopathy type 2 alpha 1

MedGen UID:
419326
Concept ID:
C2931073
Disease or Syndrome
3.

Spondyloperipheral dysplasia

Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability. [from GTR]

MedGen UID:
163223
Concept ID:
C0796173
Disease or Syndrome
4.

Dysplasia

A usually neoplastic transformation of the cell, associated with altered architectural tissue patterns. The cellular changes include nuclear and cytoplasmic abnormalities. Molecular genetic abnormalities are also often found and, in some instances, may lead to cancer. [from NCI]

MedGen UID:
87191
Concept ID:
C0334044
Pathologic Function
5.

Frameshift Mutation

A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product. [from NCI]

MedGen UID:
86908
Concept ID:
C0079380
Cell or Molecular Dysfunction
6.

Brachydactyly

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

MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
7.

HELIX SYNDROME

MedGen UID:
1132668
Concept ID:
CN469329
Disease or Syndrome
8.

Accumulation

A state characterized by the gradual increase in entities or substances. [from NCI]

MedGen UID:
883922
Concept ID:
C4055506
Finding
9.

Brachydactyly syndrome type E

MedGen UID:
539186
Concept ID:
C0265312
Disease or Syndrome
10.

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
11.

Height / growth measure

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

MedGen UID:
452503
Concept ID:
C0424639
Finding
12.

Autoimmune interstitial lung, joint, and kidney disease

Autoimmune interstitial lung, joint, and kidney disease is an autosomal dominant systemic autoimmune disorder characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease. Laboratory studies show high-titer autoantibodies. Symptoms appear in the first 2 decades of life, but there is incomplete penetrance (summary by Watkin et al., 2015). [from GTR]

MedGen UID:
452265
Concept ID:
C0231330
Temporal Concept
13.

Type II Collagenopathies

MedGen UID:
431606
Concept ID:
CN043672
Disease or Syndrome
14.

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 GTR]

MedGen UID:
375584
Concept ID:
C1845118
Congenital Abnormality
15.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
16.

Platyspondyly

A flattened vertebral body shape with reduced distance between the vertebral endplates. [from HPO]

MedGen UID:
335010
Concept ID:
C1844704
Finding
17.

Unrelated

Not connected or associated e.g. by kinship. [from NCI]

MedGen UID:
99027
Concept ID:
C0445356
Finding
18.

Short stature

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \ [from HPO]

MedGen UID:
87607
Concept ID:
C0349588
Finding
19.

Clinical finding

Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient. [from MeSH]

MedGen UID:
19974
Concept ID:
C0037088
Sign or Symptom
20.

Multiple epiphyseal dysplasia

MedGen UID:
6461
Concept ID:
C0026760
Congenital Abnormality
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