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Items: 1 to 20 of 44

1.

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

MedGen UID:
850705
Concept ID:
CN231399
Finding
2.

Megaepiphyseal dwarfism

MedGen UID:
383654
Concept ID:
C1855310
Congenital Abnormality; Disease or Syndrome
3.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
4.

Otospondylomegaepiphyseal dysplasia

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005). [from OMIM]

MedGen UID:
140925
Concept ID:
C0432210
Congenital Abnormality; Disease or Syndrome
5.

Unilateral deafness

A unilateral absence of sensory perception of sound. [from HPO]

MedGen UID:
435850
Concept ID:
C2607947
Disease or Syndrome
6.

Deafness

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
4155
Concept ID:
C0011053
Finding; Finding
7.

progressive

MedGen UID:
851455
Concept ID:
CN232553
Finding
8.

Short nose

Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip. [from HPO]

MedGen UID:
505478
Concept ID:
CN002885
Finding
9.

Sensorineural hearing impairment

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. [from HPO]

MedGen UID:
504436
Concept ID:
CN000380
Finding
10.

Flared metaphysis

The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. [from HPO]

MedGen UID:
500946
Concept ID:
CN002726
Finding
11.

Fanconi anemia, complementation group E

Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk of malignancy. Physical abnormalities, present in 60%-75% of affected individuals, include one or more of the following: short stature; abnormal skin pigmentation; malformations of the thumbs, forearms, skeletal system, eyes, kidneys and urinary tract, ears (and decreased hearing), heart, gastrointestinal system, central nervous system; hypogonadism; and developmental delay. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. By age 40 to 50 years, the estimated cumulative incidence of bone marrow failure is 90%; the incidence of hematologic malignancies (primarily acute myeloid leukemia) 10%-30%; and of nonhematologic malignancies (solid tumors, particularly of the head and neck, skin, GI tract, and genital tract) 25%-30%. [from GeneReviews]

MedGen UID:
463628
Concept ID:
C3160739
Disease or Syndrome
12.

Depressed nasal bridge

Posterior positioning of the nasal root in relation to the overall facial profile for age. [from HPO]

MedGen UID:
446656
Concept ID:
CN004681
Finding
13.

Hearing impairment

A decreased magnitude of the sensory perception of sound. [from HPO]

MedGen UID:
446352
Concept ID:
CN000341
Finding
14.

Limb undergrowth

Limb shortening because of underdevelopment of one or more bones of the extremities. [from HPO]

MedGen UID:
429865
Concept ID:
CN008683
Finding
15.

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
Congenital Abnormality; Disease or Syndrome
16.

Growth control, Y-chromosome influenced

MedGen UID:
358267
Concept ID:
C1868676
Finding
17.

Platyspondyly

MedGen UID:
355353
Concept ID:
C1865023
Finding
18.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border. [from HPO]

MedGen UID:
351278
Concept ID:
C1865014
Finding
19.

Short stature, idiopathic, autosomal

MedGen UID:
346958
Concept ID:
C1858656
Disease or Syndrome
20.

short long bones

One or more abnormally short long bone. [from HPO]

MedGen UID:
344385
Concept ID:
C1854912
Finding
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