Concept information
Preferred term
Dominant hereditary disorder, NOS
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 17q23.1-q23.2 duplication syndrome
- 8q24.3 microdeletion syndrome (disorder)
- AKT serine/threonine kinase 2-related familial partial lipodystrophy
- ALS10 - amyotrophic lateral sclerosis type 10
- ALS8 - amyotrophic lateral sclerosis type 8
- Amyotrophic lateral sclerosis type 3
- Amyotrophic lateral sclerosis type 9 (disorder)
- Arginine-glutamic acid dipeptide repeats-related neurodevelopmental syndrome
- Autoimmune interstitial lung disease, arthritis syndrome (disorder)
- Autosomal dominant Alzheimer disease with mutation of amyloid precursor protein
- Autosomal dominant Alzheimer disease with mutation of presenilin 1
- Autosomal dominant Alzheimer disease with mutation of presenilin 2
- Autosomal dominant amyotrophic lateral sclerosis type 1
- Autosomal dominant central core disease (disorder)
- Autosomal dominant cerebellar ataxia type 2
- Autosomal dominant Charcot-Marie-Tooth disease type 2
- Autosomal dominant congenital fibre-type disproportion myopathy due to ACTA1 mutation
- Autosomal dominant congenital fibre-type disproportion myopathy due to selenoprotein N mutation
- Autosomal dominant congenital fibre-type disproportion myopathy due to tropomyosin 3 mutation
- Autosomal dominant deafness with onychodystrophy syndrome
- Autosomal dominant distal hereditary motor neuropathy (disorder)
- Autosomal dominant Emery-Dreifuss muscular dystrophy (disorder)
- Autosomal dominant familial isolated hypoparathyroidism (disorder)
- Autosomal dominant generalized dystrophic epidermolysis bullosa (disorder)
- Autosomal dominant hereditary spastic paraplegia
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder)
- Autosomal dominant polycystic liver disease
- Autosomal dominant preaxial polydactyly, upper back hypertrichosis syndrome (disorder)
- Autosomal dominant progressive external ophthalmoplegia (disorder)
- Autosomal dominant Robinow syndrome (disorder)
- Autosomal dominant sideroblastic anemia (disorder)
- Behçet-like disease due to HA20
- Benign familial neonatal-infantile seizures (disorder)
- BENTA disease
- Brachydactyly type A3 (disorder)
- Brachydactyly type D (disorder)
- Branchiooculofacial syndrome
- Cathepsin A-related arteriopathy, strokes, leucoencephalopathy
- Charcot-Marie-Tooth disease, type I (disorder)
- Childhood-onset autosomal dominant optic atrophy
- Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
- Childhood-onset nemaline myopathy
- Chromodomain helicase dna-binding protein 3- related developmental delay, speech delay, intellectual disability, abnormalities of vision, facial dysmorphism syndrome
- Colobomatous macrophthalmia with microcornea syndrome (disorder)
- Congenital fiber-type disproportion myopathy due to myosin heavy chain 7 mutation (disorder)
- Congenital plantar flexion contracture
- Coralliform cataract (disorder)
- CTLA-4 haploinsufficiency with autoimmune infiltration disease
- DDX41-related hematologic malignancy predisposition syndrome
- Dehydrated hereditary stomatocytosis (disorder)
- Dentin dysplasia
- DIAPH1-related sensorineural deafness, thrombocytopenia syndrome
- Distal arthrogryposis type 3 (disorder)
- Duane retraction syndrome with congenital deafness
- Familial amyloid polyneuropathy
- Familial atrial tachyarrhythmia, infra-Hisian cardiac conduction disease
- Familial calcium pyrophosphate dihydrate crystal deposition disease
- Familial cavitary optic disc anomaly (disorder)
- Familial congenital palsy of trochlear nerve (disorder)
- Familial patent arterial duct
- Familial porencephaly (disorder)
- Familial progressive retinal dystrophy, iris coloboma, congenital cataract syndrome (disorder)
- Familial pseudohyperkalemia (disorder)
- Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
- FTH1-associated iron overload
- Generalized lipodystrophy, progeroid features, severe intellectual disability syndrome
- Genochondromatosis type 1 (disorder)
- Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome
- Hereditary angio-edema - type 2
- Hereditary C1 esterase inhibitor deficiency - deficient factor
- Hereditary keratoacanthoma (disorder)
- Hereditary lymphedema and yellow nails (disorder)
- Hereditary malignant neuroendocrine tumor of small intestine
- Hereditary sensory autonomic neuropathy type IA (disorder)
- Hereditary sensory autonomic neuropathy type IC (disorder)
- Hereditary sensory autonomic neuropathy type ID
- Hereditary sensory autonomic neuropathy type IE
- Hereditary systemic amyloidosis (disorder)
- Hereditary thrombocytopenia with early-onset myelofibrosis
- HLRCC - hereditary leiomyomatosis and renal cell cancer
- HtrA serine peptidase 1-related autosomal dominant cerebral small vessel disease (disorder)
- Hyperostosis cranialis interna (disorder)
- Hyperproinsulinaemia
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome (disorder)
- Integral membrane protein 2B related amyloidosis (disorder)
- Intellectual disability, expressive aphasia, facial dysmorphism syndrome (disorder)
- Interstitial lung disease due to surfactant protein C deficiency (disorder)
- Intrauterine growth restriction, short stature, early adult-onset diabetes syndrome
- Isolated osteopoikilosis (disorder)
- Juvenile polyposis syndrome
- Kniest dysplasia
- KRT1-related diffuse nonepidermolytic keratoderma
- LAMA5-related multisystemic syndrome
- Loeys-Dietz syndrome (disorder)
- Long QT syndrome type 6 (disorder)
- Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
- Marfan's syndrome
- Martinique crinkled retinal pigment epitheliopathy
- Microcephaly, corpus callosum and cerebellar vermis hypoplasia, facial dysmorphism, intellectual disability syndrome (disorder)
- Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome
- MINDS syndrome
- Mixed sclerosing bone dystrophy
- Multiple café-au-lait syndrome
- Myotonic dystrophy (disorder)
- Neuhauser Eichner Opitz syndrome (disorder)
- Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)
- Overhydrated hereditary stomatocytosis (disorder)
- Palmoplantar keratoderma, hereditary motor and sensory neuropathy syndrome (disorder)
- Periodic fever, infantile enterocolitis, autoinflammatory syndrome
- Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder)
- Peripheral resistance to thyroid hormone (disorder)
- Peroxisome proliferator activated receptor gamma-related familial partial lipodystrophy (disorder)
- Pfeiffer syndrome
- PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome
- Pilarowski Bjornsson syndrome
- Plantar lipomatosis, facial dysmorphism, developmental delay syndrome
- Polymicrogyria due to TUBB2B mutation
- Pontine autosomal dominant microangiopathy with leukoencephalopathy (disorder)
- Primary failure of tooth eruption (disorder)
- Primary pigmented nodular adrenocortical disease (disorder)
- Progressive myoclonus epilepsy type 7
- Progressive scapulohumeroperoneal distal myopathy (disorder)
- QRICH1-related intellectual disability, chondrodysplasia syndrome
- SIX homeobox 2-related frontonasal dysplasia (disorder)
- Southeast Asian ovalocytosis (disorder)
- Spinocerebellar ataxia type 41
- Spinocerebellar ataxia type 42
- Spinocerebellar ataxia type 43 (disorder)
- Spondyloepiphyseal dysplasia Stanescu type
- Stark Kaeser syndrome
- STAT3-related early-onset multisystem autoimmune disease
- Stickler syndrome type 1
- Stickler syndrome type 2
- Symphalangism Cushing type
- Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (disorder)
- THBD (thrombomodulin) related bleeding disorder
- Thin basement membrane nephropathy
- WITKOS - Witteveen Kolk syndrome
- YY1 haploinsufficiency syndrome
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/11164009
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