Concept information
Preferred term
Connective tissue hereditary disorder
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- Aneurysm osteoarthritis syndrome (disorder)
- Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder)
- Autosomal systemic lupus erythematosus (disorder)
- Banki syndrome (disorder)
- Blindness, scoliosis, arachnodactyly syndrome (disorder)
- Chronic respiratory distress with surfactant metabolism deficiency (disorder)
- Congenital nephrotic syndrome, interstitial lung disease, epidermolysis bullosa syndrome
- Congenital short costocoracoid ligament (disorder)
- Congenital stromal corneal dystrophy (disorder)
- Exostosis, anetoderma, brachydactyly type E syndrome (disorder)
- Familial chondromalacia patellae (disorder)
- Familial partial lipodystrophy Kobberling type (disorder)
- Familial partial lipodystrophy type 2 (disorder)
- Genochondromatosis type 2 (disorder)
- Gitelman's syndrome
- Gnathodiaphyseal dysplasia syndrome (disorder)
- Granular corneal dystrophy
- Hypoplasia and coloboma of alar cartilage with telecanthus syndrome (disorder)
- Lipodystrophy, intellectual disability, deafness syndrome (disorder)
- Marden Walker syndrome
- Marfan's syndrome
- Metachondromatosis
- Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)
- PLIN1-related familial partial lipodystrophy
- POIKTMP syndrome
- Posterior amorphous corneal dystrophy (disorder)
- Progressive arterial occlusive disease, hypertension, heart defect, bone fragility, brachysyndactyly syndrome (disorder)
- Pulmonary fibrosis, hepatic hyperplasia, bone marrow hypoplasia syndrome
- Pulmonary interstitial glycogenosis
- Retinal detachment and occipital encephalocele
- Severe neurodegenerative syndrome due to BSCL2 deficiency
- Shell teeth
- Shprintzen Goldberg craniosynostosis syndrome (disorder)
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome (disorder)
- Upington disease
Finding site
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/363045008
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