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MedGen for PubMed (Select 12938037)

Items: 18

1.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
505048
Concept ID:
CN001810
Finding
2.

Flexion contracture

A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. [from HPO]

MedGen UID:
504817
Concept ID:
CN001256
Finding
3.

Global developmental delay

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. [from HPO]

MedGen UID:
504774
Concept ID:
CN001157
Finding
4.

Abnormality of the skeletal system

An abnormality of the skeletal system. [from HPO]

MedGen UID:
428236
Concept ID:
CN000866
Finding
5.

Bell-shaped thorax

MedGen UID:
375259
Concept ID:
C1843692
Finding
6.

Thoracomelic dysplasia

MedGen UID:
336441
Concept ID:
C1848863
Disease or Syndrome
7.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
8.

Uniparental disomy, paternal, chromosome 14

MedGen UID:
330856
Concept ID:
C1842466
Disease or Syndrome
9.

Thin ribs

MedGen UID:
98095
Concept ID:
C0426818
Finding
10.

Intellectual functioning disability

A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18. [from NCI]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
11.

Nondisjunction

Chromosomal mosaicism as described here refers to a tendency to chromosomal nondisjunction. See also premature chromatid separation (PCS; 165430), which may also predispose to chromosomal nondisjunction. [from OMIM]

MedGen UID:
320427
Concept ID:
C1834741
Disease or Syndrome
12.

metahyseal flaring

MedGen UID:
830618
Concept ID:
CN225191
Finding
13.

Aplasia of facial bones

MedGen UID:
807939
Concept ID:
CN220853
Finding
14.

Delayed skeletal maturation

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. [from HPO]

MedGen UID:
505344
Concept ID:
CN002495
Finding
15.

Flaring of rib cage

MedGen UID:
381496
Concept ID:
C1854780
Finding
16.

Cupped ribs

MedGen UID:
351284
Concept ID:
C1865039
Finding
17.

Anterior bowing of long bones

MedGen UID:
342554
Concept ID:
C1850644
Finding
18.

Bowing of the long bones

MedGen UID:
340849
Concept ID:
C1855340
Finding
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