Concept information
Preferred term
Genetic disease
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 19p13.3 microduplication syndrome (disorder)
- 21q22.11q22.12 microdeletion syndrome
- Ataxia, photosensitivity, short stature syndrome
- Blau syndrome
- Boomerang dysplasia
- CHARGE association
- Chronic diarrhea with villous atrophy syndrome (disorder)
- Clover leaf skull deformity
- Combined immunodeficiency with granulomatosis
- Conductive hearing loss, malformation of external ear syndrome
- Curatolo Cilio Pessagno syndrome
- Diaphragmatic hernia, short bowel, asplenia syndrome (disorder)
- DNA instability syndrome (disorder)
- Familial hematuria (disorder)
- Familial isolated clinodactyly of finger (disorder)
- Familial temporal lobe epilepsy (disorder)
- Focal facial dermal dysplasia (disorder)
- Generalised pustular psoriasis
- Generalized glucocorticoid resistance syndrome (disorder)
- Genetic lipodystrophy (disorder)
- Hemolytic uremic syndrome
- Hereditary disease
- Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)
- Isolated prelingual genetic deafness
- Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)
- Malignant melanoma with B-Raf proto-oncogene, serine/threonine kinase V600E mutation (disorder)
- Microcephaly faciocardioskeletal syndrome
- Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)
- Mixed sclerosing bone dystrophy with extra-skeletal manifestation (disorder)
- Myopathy and diabetes mellitus (disorder)
- Oral-facial-digital syndrome
- Osteogenesis imperfecta
- Postlingual non-syndromic genetic deafness
- Prader-Willi-like syndrome
- Prader-Willi syndrome
- Primary tethered cord syndrome
- Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)
- Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
- Solid tumour with neurotrophic receptor tyrosine kinase
- Solitary median maxillary central incisor syndrome
- Syndactyly, nystagmus syndrome due to trisomy 2q31.1
- Syndactyly, polydactyly, ear lobe syndrome (disorder)
- Thin ribs, tubular bones, dysmorphism syndrome
- Triplet repeat disorder
- Williams syndrome
- Winchester syndrome
Is a
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/782964007
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