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Results: 15

1.

Related

MedGen UID:
619805
Concept ID:
C0445223
Finding
2.

Spondylometaepiphyseal dysplasia short limb-hand type

MedGen UID:
338595
Concept ID:
C1849011
Disease or Syndrome
3.

Craniosynostosis 1

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis. Genetic Heterogeneity of Craniosynostosis Craniosynostosis-2 (CRS2; 604757) is caused by mutation in the MSX2 gene (123101) on chromosome 5q. Craniosynostosis-3 (615314) is caused by mutation in the TCF12 gene (600480) on chromosome 15q21. Craniosynostosis-4 (600775) is caused by mutation in the ERF gene (611888) on chromosome 19q13. [from OMIM]

MedGen UID:
468569
Concept ID:
CN029978
Disease or Syndrome
4.

Life Threatening

A situation that imperils the existence of an entity. [from NCI]

MedGen UID:
415288
Concept ID:
C2826244
Finding
5.

Source

Where something is available or from where it originates. [from NCI]

MedGen UID:
99076
Concept ID:
C0449416
Finding
6.

Finding

The result of an examination or inquiry. [from NCI]

MedGen UID:
66215
Concept ID:
C0243095
Finding
7.

Infection

Invasion of the host organism by microorganisms that can cause pathological conditions or diseases. [from MeSH]

MedGen UID:
811352
Concept ID:
C3714514
Pathologic Function
8.

Skin and Connective Tissue Diseases

A collective term for diseases of the skin and its appendages and of connective tissue. [from MeSH]

MedGen UID:
59786
Concept ID:
C0175166
Disease or Syndrome
9.

Bacterial infection of skin

Skin diseases caused by bacteria. [from MeSH]

MedGen UID:
56470
Concept ID:
C0162627
Disease or Syndrome
10.

Gram-Positive Bacterial Infections

Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method. [from MeSH]

MedGen UID:
39283
Concept ID:
C0085426
Disease or Syndrome
11.

Streptococcal skin disorder

MedGen UID:
721399
Concept ID:
C1299554
Disease or Syndrome
12.

Finding of gastrointestinal tract gas

MedGen UID:
660650
Concept ID:
C0577089
Finding
13.

Pharyngeal finding

MedGen UID:
604932
Concept ID:
C0426505
Finding
14.

Mouth and/or pharynx finding

MedGen UID:
604911
Concept ID:
C0426480
Finding
15.

Integumentary system finding

Symptoms, physical examination results, and/or laboratory test results related to the integumentary system. (NCI) [from NCI]

MedGen UID:
224852
Concept ID:
C1291044
Finding

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