| D007714 |
Klippel-Feil Syndrome |
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass. |
Dystrophia Brevicollis Congenita,Cervical Fusion Syndrome,Klippel-Feil Sequence,Vertebral Cervical Fusion Syndrome,Dystrophia Brevicollis Congenitas,Klippel Feil Syndrome,Syndrome, Klippel-Feil |
|
| D008297 |
Male |
|
Males |
|
| D008382 |
Marfan Syndrome |
An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2. |
Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome |
|
| D008875 |
Middle Aged |
An adult aged 45 - 64 years. |
Middle Age |
|
| D001980 |
Bronchi |
The larger air passages of the lungs arising from the terminal bifurcation of the TRACHEA. They include the largest two primary bronchi which branch out into secondary bronchi, and tertiary bronchi which extend into BRONCHIOLES and PULMONARY ALVEOLI. |
Primary Bronchi,Primary Bronchus,Secondary Bronchi,Secondary Bronchus,Tertiary Bronchi,Tertiary Bronchus,Bronchi, Primary,Bronchi, Secondary,Bronchi, Tertiary,Bronchus,Bronchus, Primary,Bronchus, Secondary,Bronchus, Tertiary |
|
| D001995 |
Bronchography |
Radiography of the bronchial tree after injection of a contrast medium. |
Bronchographies |
|
| D002902 |
Chromosomes, Human, 16-18 |
The short, submetacentric human chromosomes, called group E in the human chromosome classification. This group consists of chromosome pairs 16, 17, and 18. |
Chromosomes E,Group E Chromosomes,Chromosome, Group E,Chromosomes, Group E,E Chromosomes, Group,Group E Chromosome |
|
| D002971 |
Cleft Lip |
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region. |
Harelip,Cleft Lips,Harelips,Lip, Cleft,Lips, Cleft |
|
| D002972 |
Cleft Palate |
Congenital fissure of the soft and/or hard palate, due to faulty fusion. |
Cleft Palate, Isolated,Cleft Palates,Palate, Cleft,Palates, Cleft |
|
| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
|