Concept information
Preferred term
Genetic disease
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 17q24.2 microdeletion syndrome (disorder)
- 20q11.2 microdeletion syndrome (disorder)
- 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinaemia
- 3-methylglutaconic aciduria type 8
- 5q23 microdeletion syndrome
- 7q36.3 microduplication syndrome
- 9q21.13 microdeletion syndrome
- Adenocarcinoma of pancreas with neuregulin 1 gene fusion
- Amyotrophic lateral sclerosis, parkinsonism, dementia of Guam syndrome
- Amyotrophic lateral sclerosis type 6
- Amyotrophic lateral sclerosis type 7 (disorder)
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome (disorder)
- Brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome
- Cadherin EGF LAG seven-pass G-type receptor 1-related late-onset primary lymphedema (disorder)
- Camptodactyly syndrome Guadalajara type 3 (disorder)
- Clear cell sarcoma of kidney
- Cleft lip and palate, craniofacial dysmorphism, congenital heart defect, hearing loss syndrome (disorder)
- Congenital generalized hypercontractile muscle stiffness syndrome
- Congenital myopathy with fibre type disproportion
- Dennis Fairhurst Moore syndrome
- Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder)
- Dysraphism, cleft lip and palate, limb reduction defect syndrome
- Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder)
- Ephrin receptor B4-related lymphatic-related hydrops fetalis
- Familial hematuria (disorder)
- Femur-fibula-ulna syndrome
- Frontonasal dysplasia, bifid nose, upper limb anomalies syndrome
- Fryns Smeets Thiry syndrome
- Gap junction protein gamma 2-related late-onset primary lymphoedema
- Generalised pustular psoriasis
- Gershoni Baruch syndrome
- Hemolytic uremic syndrome
- Hereditary disease
- Humero-radio-ulnar fusion
- Hyaline fibromatosis syndrome
- Hypogonadism with anosmia
- Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome (disorder)
- Intellectual disability, muscle weakness, short stature, facial dysmorphism syndrome
- Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome
- Isolated metopic craniosynostosis
- Kosaki overgrowth syndrome (disorder)
- Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
- Low density lipoprotein receptor-related protein 5 related primary osteoporosis (disorder)
- Malignant tumor of esophagus with NRG1 fusion
- Mandibulofacial dysostosis with alopecia
- Metopic ridging, ptosis, facial dysmorphism syndrome
- Microphthalmia, microtia, foetal akinesia syndrome
- muscular dystrophy
- MYH9 related disease
- NFAT5 (nuclear factor of activated T cells 5) haploinsufficiency
- Non-small cell lung carcinoma with NRG1 fusion
- Non syndromic camptodactyly of fingers (disorder)
- Osteogenesis imperfecta
- Palatal anomalies, multiple diastemata, facial dysmorphism, developmental delay syndrome
- Palmer Pagon syndrome
- Pancreatic agenesis, holoprosencephaly syndrome
- Paraganglioma, somatostatinoma, polycythemia syndrome
- PIEZO1-related generalised lymphatic dysplasia with non-immune hydrops fetalis
- Prader-Willi-like syndrome
- Progressive supranuclear palsy
- Proximal myopathy with focal depletion of mitochondria
- Ring finger protein 13-related severe early-onset epileptic encephalopathy
- SATB2-associated syndrome
- Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract
- Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder)
- Stromal antigen 1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome
- Timothy syndrome (disorder)
- Tubulinopathy-associated dysgyria (disorder)
- Tumor necrosis factor receptor associated factor 7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome
- VEGFC-related congenital primary lymphedema
- WW domain containing adaptor with coiled-coil-related facial dysmorphism, developmental delay, behavioural abnormalities syndrome
Is a
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/782964007
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