Concept information
Preferred term
Dominant hereditary disorder, NOS
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 17q11.2 microduplication syndrome (disorder)
- 2p13.2 microdeletion syndrome
- 3q27.3 microdeletion syndrome (disorder)
- 3q29 microdeletion syndrome (disorder)
- 8q13 microdeletion syndrome (disorder)
- Ablepharon macrostomia syndrome (disorder)
- Absence of fingerprints with congenital milia syndrome (disorder)
- Achondroplasia
- Acro-dermato-ungual-lacrimal-tooth syndrome (disorder)
- Acromegaloid facial appearance syndrome (disorder)
- Acroosteolysis, keloid-like lesions, premature ageing syndrome
- Acropectoral syndrome (disorder)
- Acropectorovertebral dysplasia (disorder)
- Acrorenoocular syndrome (disorder)
- Adult-onset cervical dystonia DYT23 type (disorder)
- Adult-onset distal myopathy due to VCP (valosin containing protein) mutation
- AEG - anophthalmia-esophageal-genital syndrome
- Albinism-deafness syndrome of Tietz (disorder)
- Alexander's disease
- Alpha-B crystallin-related late-onset myopathy
- Alport syndrome autosomal dominant (disorder)
- Ameloonychohypohidrotic syndrome (disorder)
- Amyotrophic lateral sclerosis type 4
- Aneurysm osteoarthritis syndrome (disorder)
- Angel-shaped phalangoepiphyseal dysplasia (disorder)
- Aniridia and absent patella syndrome (disorder)
- Aniridia and intellectual disability syndrome (disorder)
- Aniridia, ptosis, intellectual disability, familial obesity syndrome (disorder)
- Ankylosing vertebral hyperostosis with tylosis syndrome (disorder)
- Antecubital pterygium syndrome
- Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)
- Aphalangy and syndactyly with microcephaly syndrome (disorder)
- Aplasia of fibula and ectrodactyly syndrome (disorder)
- Ataxia pancytopenia syndrome
- AT-hook DNA binding motif containing 1-related intellectual disability, obstructive sleep apnea, mild dysmorphism syndrome
- Atrial septal defect, atrioventricular conduction defect syndrome (disorder)
- Auriculo-condylar syndrome
- Autism spectrum disorder due to AUTS2 activator of transcription and developmental regulator deficiency
- Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder)
- Autoinflammation phospholipase C gamma 2 associated antibody deficiency and immune dysregulation
- Autosomal dominant aplasia and myelodysplasia (disorder)
- Autosomal dominant beta2-microglobulinic amyloidosis (disorder)
- Autosomal dominant brachyolmia (disorder)
- Autosomal dominant centronuclear myopathy (disorder)
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
- Autosomal dominant childhood-onset proximal spinal muscular atrophy (disorder)
- Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)
- Autosomal dominant dopa responsive dystonia (disorder)
- Autosomal dominant dyskeratosis congenita (disorder)
- Autosomal dominant epidermolysis bullosa simplex (disorder)
- Autosomal dominant focal dystonia DYT25 type (disorder)
- Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
- Autosomal dominant hereditary hemochromatosis (disorder)
- Autosomal dominant hereditary spastic paraplegia
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency (disorder)
- Autosomal dominant hyperinsulinism due to sulfonylurea receptor 1 deficiency (disorder)
- Autosomal dominant hypocalcemia (disorder)
- Autosomal dominant idiopathic familial dystonia
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type A (disorder)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type B (disorder)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type C (disorder)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
- Autosomal dominant keratitis (disorder)
- Autosomal dominant late onset Parkinson disease (disorder)
- Autosomal dominant late-onset retinal degeneration (disorder)
- Autosomal dominant late-onset spinal muscular atrophy Finkel type
- Autosomal dominant macrothrombocytopenia (disorder)
- Autosomal dominant medullary cystic kidney disease (disorder)
- Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder)
- Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency (disorder)
- Autosomal dominant multiple pterygium syndrome (disorder)
- Autosomal dominant muscular dystrophy with limb girdle distribution
- Autosomal dominant myoglobinuria (disorder)
- Autosomal dominant neovascular inflammatory vitreoretinopathy (disorder)
- Autosomal dominant omodysplasia (disorder)
- Autosomal dominant osteopetrosis type 2 (disorder)
- Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)
- Autosomal dominant polycystic kidney disease (disorder)
- Autosomal dominant popliteal pterygium syndrome (disorder)
- Autosomal dominant primary hypomagnesemia with hypocalciuria (disorder)
- Autosomal dominant primary microcephaly
- Autosomal dominant prognathism of mandible (disorder)
- Autosomal dominant progressive external ophthalmoplegia (disorder)
- Autosomal dominant progressive nephropathy with hypertension (disorder)
- Autosomal dominant pterygium of conjunctiva (disorder)
- Autosomal dominant rhegmatogenous retinal detachment (disorder)
- Autosomal dominant secondary polycythemia (disorder)
- Autosomal dominant severe congenital neutropaenia
- Autosomal dominant slowed nerve conduction velocity
- Autosomal dominant spastic ataxia type 1 (disorder)
- Autosomal dominant spondylocostal dysostosis (disorder)
- Autosomal dominant striatal neurodegeneration (disorder)
- Autosomal dominant vitreoretinochoroidopathy (disorder)
- Ballard syndrome (disorder)
- Banki syndrome (disorder)
- BAP1-related tumor predisposition syndrome
- Behavioral variant of frontotemporal dementia (disorder)
- Benign adult familial myoclonic epilepsy (disorder)
- Benign concentric annular macular dystrophy (disorder)
- Benign familial mesial temporal lobe epilepsy
- Best vitelliform macular dystrophy (disorder)
- Bethlem myopathy (disorder)
- Bleeding diathesis due to thromboxane synthesis deficiency
- Blepharocheilodontic syndrome (disorder)
- Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type
- Blepharoptosis, myopia, ectopia lentis syndrome (disorder)
- Blindness, scoliosis, arachnodactyly syndrome (disorder)
- Book syndrome (disorder)
- Brachydactyly and preaxial hallux varus syndrome
- Brachydactyly elbow wrist dysplasia (disorder)
- Brachydactyly long thumb type
- Brachydactyly type A1 (disorder)
- Brachydactyly type A2 (disorder)
- Brachydactyly type A4 (disorder)
- Brachydactyly type A5 (disorder)
- Brachydactyly type A6 (disorder)
- Brachydactyly type B2 (disorder)
- Brachydactyly with syndactyly Zhao type (disorder)
- Brachymorphism with onychodysplasia and dysphalangism syndrome (disorder)
- Brachytelephalangy, facial dysmorphism, Kallmann syndrome (disorder)
- Branchiogenic deafness syndrome (disorder)
- Branchio-otic syndrome
- Brooke-Spiegler syndrome
- Butterfly-shaped pigmentary macular dystrophy (disorder)
- Capillary malformation-arteriovenous malformation syndrome
- Cap myopathy
- Cardiac anomaly and heterotaxy syndrome (disorder)
- Cardiac arrhythmia ankyrin-B related
- Cataract with aberrant oral frenula and growth delay syndrome (disorder)
- Caveolin 3 related distal myopathy (disorder)
- Centronuclear myopathy type 4
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder)
- Cerebro-frontofacial syndrome, type 3
- Cerebrooculonasal syndrome (disorder)
- CHACS - curly hair, acral keratoderma, caries syndrome
- Charcot-Marie-Tooth disease, pyramidal features syndrome
- Charcot-Marie-Tooth disease, type I (disorder)
- Char Douglas Dungan syndrome
- Char syndrome
- Choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome (disorder)
- Christianson Fourie syndrome
- Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (disorder)
- Chronic respiratory distress with surfactant metabolism deficiency (disorder)
- Cleft palate with short stature and vertebral anomaly syndrome (disorder)
- Cleidorhizomelic syndrome (disorder)
- Cole disease
- Collagen type IV alpha 1 chain related familial vascular leukoencephalopathy (disorder)
- Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
- Congenital blue dot cataract
- Congenital dyserythropoietic anemia type IV (disorder)
- Congenital muscular dystrophy due to lamin A/C mutation
- Congenital short costocoracoid ligament (disorder)
- Congenital stromal corneal dystrophy (disorder)
- Congenital variant of Rett syndrome (disorder)
- Cooks syndrome (disorder)
- Corneal intraepithelial dyskeratosis, palmoplantar hyperkeratosis, laryngeal dyskeratosis syndrome
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
- Coxopodopatellar syndrome (disorder)
- Craniofacial conodysplasia syndrome (disorder)
- Craniofacial deafness hand syndrome (disorder)
- Craniosynostosis Boston type (disorder)
- Craniosynostosis Philadelphia type (disorder)
- Craniosynostosis with Dandy-Walker malformation and hydrocephalus syndrome (disorder)
- Cryptomicrotia brachydactyly syndrome (disorder)
- Cutis gyrata syndrome of Beare and Stevenson
- Cyprus facial neuromusculoskeletal syndrome (disorder)
- Czech dysplasia metatarsal type (disorder)
- Dacryocystitis and osteopoikilosis syndrome (disorder)
- Dappled metaphysis syndrome
- Deafness craniofacial syndrome (disorder)
- Deafness with malformation of ear and facial palsy syndrome (disorder)
- Deficiency in anterior pituitary function, variable immunodeficiency syndrome (disorder)
- Deficiency of nudix hydrolase 15
- Dermo-odonto dysplasia (disorder)
- Desmin-related myofibrillar myopathy (disorder)
- Developmental delay, facial dysmorphism syndrome due to mediator complex subunit 13 like deficiency (disorder)
- Developmental malformation, deafness, dystonia syndrome (disorder)
- DICER1 syndrome
- Diffuse palmoplantar keratoderma and acrocyanosis syndrome (disorder)
- Diffuse palmoplantar keratoderma with painful fissures
- Dislocation of hip and facial dysmorphism syndrome
- Distal arthrogryposis type 1 (disorder)
- Distal myopathy type 1
- Distal myopathy Welander type (disorder)
- Distal myopathy with posterior leg and anterior hand involvement (disorder)
- Dominant beta-thalassemia (disorder)
- Dominant hereditary optic atrophy
- Doughnut lesion of calvaria and bone fragility syndrome (disorder)
- Doyne's honeycomb choroiditis
- Dyschondrosteosis and nephritis syndrome (disorder)
- Dystonia 24
- Dystonia 9
- Dystonia aphonia syndrome (disorder)
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Early-onset prion disease with prominent psychiatric features
- Early onset sarcoidosis
- East Texas bleeding disorder (disorder)
- Ectodermal dysplasia trichoodontoonychial type (disorder)
- Ectodermal dysplasia with natal teeth Turnpenny type (disorder)
- Ehlers-Danlos and osteogenesis imperfecta syndrome
- Ehlers-Danlos syndrome classic type (disorder)
- Emery Nelson syndrome
- Endothelial dystrophy, iris hypoplasia, congenital cataract, stromal thinning syndrome (disorder)
- Enlarged parietal foramina (disorder)
- Epithelial recurrent erosion dystrophy of cornea (disorder)
- Erythema palmare hereditarium
- Exercise-induced hyperinsulinism (disorder)
- External auditory canal atresia, vertical talus, hypertelorism syndrome (disorder)
- Facial dysmorphism, conductive hearing loss, heart defect syndrome
- Facial dysmorphism, intellectual deficit, short stature and hearing loss
- Familial acute necrotizing encephalopathy (disorder)
- Familial advanced sleep phase syndrome (disorder)
- Familial Alzheimer-like prion disease (disorder)
- Familial avascular necrosis of head of femur (disorder)
- Familial bicuspid aortic valve (disorder)
- Familial caudal dysgenesis (disorder)
- Familial chondromalacia patellae (disorder)
- Familial congenital palsy of trochlear nerve (disorder)
- Familial cortical myoclonus
- Familial Creutzfeldt-Jakob (disorder)
- Familial cutaneous collagenoma
- Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
- Familial digital arthropathy and brachydactyly syndrome (disorder)
- Familial dilated cardiomyopathy with conduction defect due to lamin A/C mutation
- Familial dyskeratotic comedones
- Familial dyskinesia and facial myokymia (disorder)
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial episodic pain syndrome
- Familial generalised lentiginosis
- Familial hyperprolactinemia
- Familial hyperthyroidism due to mutation in thyroid stimulating hormone receptor (disorder)
- Familial isolated arrhythmogenic right ventricular dysplasia (disorder)
- Familial isolated congenital asplenia (disorder)
- Familial isolated hyperparathyroidism (disorder)
- Familial isolated pituitary adenoma
- Familial male-limited precocious puberty (disorder)
- Familial multiple benign meningioma (disorder)
- Familial omphalocele syndrome with facial dysmorphism (disorder)
- Familial osteochondritis dissecans (disorder)
- Familial partial lipodystrophy Kobberling type (disorder)
- Familial partial lipodystrophy type 2 (disorder)
- Familial Pick's disease
- Familial platelet syndrome with predisposition to acute myelogenous leukemia (disorder)
- Familial progressive hyperpigmentation and hypopigmentation of skin
- Familial progressive hyperpigmentation (disorder)
- Familial scaphocephaly syndrome McGillivray type (disorder)
- Familial Scheuermann disease (disorder)
- Familial spontaneous pneumothorax (disorder)
- Familial TAAD (thoracic aortic aneurysm aortic dissection)
- Familial thrombocytosis with transverse limb defect
- Familial vesicoureteral reflux (disorder)
- Feingold syndrome
- FFEVF - familial focal epilepsy with variable foci
- Fibronectin glomerulopathy
- Finnish upper limb onset distal myopathy
- Floating-Harbour syndrome
- Focal facial dermal dysplasia 2 Brauer Setleis type
- Focal facial dermal dysplasia type I
- Focal palmoplantar and gingival keratoderma
- Focal palmoplantar keratoderma with joint keratoses (disorder)
- Frontotemporal dementia with gene located on 3p11 (disorder)
- Gastric adenocarcinoma and proximal polyposis of stomach (disorder)
- Gastrocutaneous syndrome
- Generalized epilepsy and paroxysmal dyskinesia syndrome (disorder)
- Genitopatellar syndrome
- Genochondromatosis type 2 (disorder)
- Gingival fibromatosis and hypertrichosis syndrome (disorder)
- Gingival fibromatosis with progressive deafness syndrome (disorder)
- Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)
- Glomuvenous malformation (disorder)
- Gnathodiaphyseal dysplasia syndrome (disorder)
- Grant syndrome
- Granular corneal dystrophy
- Grayson Wilbrandt dystrophy of cornea (disorder)
- Haemoglobinopathy Toms River
- Hand-foot-genital syndrome
- Heart-hand syndrome Slovenian type (disorder)
- Helicoid peripapillary chorioretinal degeneration (disorder)
- Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
- Hereditary camptodactyly
- Hereditary cerebral hemorrhage with amyloidosis (disorder)
- Hereditary diffuse carcinoma of stomach (disorder)
- Hereditary diffuse leukoencephalopathy with axonal spheroids
- Hereditary dysphasic disinhibition dementia
- Hereditary gelsolin amyloidosis
- Hereditary geniospasm (disorder)
- Hereditary hypercarotenemia and vitamin A deficiency (disorder)
- Hereditary hyperferritinemia-cataract syndrome
- Hereditary hypotrichosis simplex of scalp (disorder)
- Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)
- Hereditary inclusion body myopathy type 4 (disorder)
- Hereditary keratoacanthoma (disorder)
- Hereditary mixed polyposis syndrome
- Hereditary motor and sensory neuropathy Okinawa type (disorder)
- Hereditary nonpolyposis colon cancer
- Hereditary papillary renal cell carcinoma (disorder)
- Hereditary persistence of alpha-fetoprotein (disorder)
- Hereditary pheochromocytoma and paraganglioma (disorder)
- Hereditary progressive mucinous histiocytosis
- Hereditary sensorimotor neuropathy with hyperelastic skin (disorder)
- Hereditary sensory and autonomic neuropathy type 1B (disorder)
- Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction
- Hereditary site-specific ovarian cancer syndrome (disorder)
- Hereditary stomatocytosis
- Hereditary thermosensitive neuropathy (disorder)
- Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
- Hereditary von Willebrand disease type 2B
- Hereditary von Willebrand disease type 2M
- Hidrotic ectodermal dysplasia syndrome
- High bone mass osteogenesis imperfecta
- Hip dysplasia Beukes type (disorder)
- Hot water reflex epilepsy
- Hunter McAlpine craniosynostosis syndrome (disorder)
- Huntington disease-like 2 (disorder)
- Huntington disease-like syndrome due to chromosome 9 open reading frame 72 expansions (disorder)
- Huntington's chorea
- Hydrocephalus with cleft palate and joint contracture syndrome (disorder)
- Hyperinsulinism and hyperammonemia syndrome (disorder)
- Hyperinsulinism due to deficiency of glucokinase (disorder)
- Hyperinsulinism due to hepatocyte nuclear factor 1-alpha deficiency (disorder)
- Hyperinsulinism due to hepatocyte nuclear factor 4-alpha deficiency (disorder)
- Hyperinsulinism due to insulin receptor deficiency (disorder)
- Hyperinsulinism due to uncoupling protein 2 deficiency (disorder)
- Hyperparathyroidism 2
- Hypertelorism Teebi type (disorder)
- Hypertrichosis cubiti (disorder)
- Hyperuricemia, anemia, renal failure syndrome (disorder)
- Hypogonadotropic hypogonadism with frontoparietal alopecia syndrome (disorder)
- Hypoinsulinemic hypoglycemia and body hemihypertrophy
- Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)
- Hypoparathyroidism, deafness, renal disease syndrome (disorder)
- Hypotrichosis and deafness syndrome
- Infundibulopelvic stenosis multicystic kidney syndrome (disorder)
- Intellectual disability, cataract, calcified pinna, myopathy syndrome (disorder)
- Intellectual disability, craniofacial dysmorphism, cryptorchidism syndrome
- Intellectual disability, facial dysmorphism syndrome due to SET domain containing 5 haploinsufficiency (disorder)
- Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomaly syndrome
- Isolated autosomal dominant hypomagnesemia Glaudemans type (disorder)
- Isolated congenital adermatoglyphia
- Isolated cryptophthalmos (disorder)
- Isolated optic nerve hypoplasia (disorder)
- Jackson-Weiss syndrome
- Johnson McMillin syndrome
- Karsch Neugebauer syndrome
- King Denborough syndrome
- Kleefstra syndrome (disorder)
- KLHL9-related early-onset distal myopathy
- Koolen De Vries syndrome (disorder)
- Kozlowski spondylometaphyseal dysplasia
- Lamin A/C related cardiocutaneous progeria syndrome
- Legius syndrome
- Leukonychia totalis, acanthosis-nigricans-like lesions, abnormal hair syndrome (disorder)
- Limb mammary syndrome (disorder)
- Lissencephaly due to tubulin alpha 1A mutation (disorder)
- Long QT syndrome with syndactyly
- Lower motor neuron degeneration with Paget-like bone disease
- Lower motor neuron syndrome with late-adult onset (disorder)
- Lowry MacLean syndrome (disorder)
- Lymphedema and cerebral arteriovenous anomaly syndrome (disorder)
- Lynch syndrome (disorder)
- Macrocephaly, intellectual disability, autism syndrome (disorder)
- Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)
- Mammary digital nail syndrome (disorder)
- Marfan's syndrome
- Marie Unna syndrome
- Maternal riboflavin deficiency
- MDP (mandibular hypoplasia, deafness, progeroid) syndrome
- Median nodule of upper lip (disorder)
- Melanoma and neural system tumour syndrome
- Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder)
- Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder)
- Mesomelic dysplasia Kantaputra type (disorder)
- Mesomelic dysplasia of hypoplastic ulna and fibula type (disorder)
- Metabolic myopathy due to lactate transporter defect
- Metachondromatosis
- Metaphyseal dysplasia Braun Tinschert type (disorder)
- Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome (disorder)
- Microcephalus, lymphedema, chorioretinopathy syndrome
- Microcephaly with deafness and intellectual disability syndrome (disorder)
- Microcornea, rod-cone dystrophy, cataract, posterior staphyloma syndrome (disorder)
- Microcornea with glaucoma and absent frontal sinus syndrome (disorder)
- Microphthalmia with brain and digit anomaly (disorder)
- Microspherophakia with metaphyseal dysplasia syndrome (disorder)
- Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)
- Mirror hands and feet co-occurrent with nasal defect (disorder)
- Mitochondrial DNA deletion syndrome with limb-girdle weakness
- Mowat-Wilson syndrome (disorder)
- MPRM - myopathy, proximal, with early respiratory muscle involvement
- Muenke syndrome
- Mullerian aplasia
- Mullerian duct and limb anomalies syndrome (disorder)
- Multicentric carpotarsal osteolysis syndrome
- Multifocal pattern dystrophy simulating Stargardt disease
- Multiple endocrine neoplasia type 2A (disorder)
- Multiple epiphyseal dysplasia Beighton type (disorder)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly
- Multiple epiphyseal dysplasia type 1 (disorder)
- Multiple epiphyseal dysplasia type 5 (disorder)
- Multiple osteochondroma of long bone (disorder)
- Multisystemic smooth muscle dysfunction syndrome (disorder)
- Muscle filaminopathy
- Muscular dystrophy Selcen type (disorder)
- Myoclonus, cerebellar ataxia, deafness syndrome
- Nasopalpebral lipoma coloboma syndrome (disorder)
- Nephrotic syndrome with pseudohermaphroditism
- Neurofibromatosis, type 1
- Nicolaides-Baraitser syndrome (disorder)
- NLR family pyrin domain containing 12-associated hereditary periodic fever syndrome (disorder)
- Non-progressive cerebellar ataxia with intellectual disability (disorder)
- Nonspherocytic hemolytic anemia due to deficiency of adenosinetriphosphatase (disorder)
- Noonan syndrome-like disorder with juvenile myelomonocytic leukaemia
- Occult macular dystrophy (disorder)
- Oculodental syndrome (disorder)
- O'Donnell Pappas syndrome
- Oligodontia and cancer predisposition syndrome
- Optic nerve edema, splenomegaly syndrome (disorder)
- Osteocraniostenosis (disorder)
- Osteosclerosis, developmental delay, craniosynostosis syndrome (disorder)
- Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder)
- Palmoplantar keratoderma, spastic paralysis syndrome (disorder)
- Palmoplantar keratoderma with clinodactyly syndrome (disorder)
- Palmoplantar keratoderma with deafness syndrome (disorder)
- Pancreatic hypoplasia, diabetes mellitus, congenital heart disease syndrome (disorder)
- Pancytopenia due to IKZF1 mutations
- Paraganglioma and gastric stromal sarcoma syndrome (disorder)
- Parastremmatic dwarfism (disorder)
- Parietal foramina with clavicular hypoplasia
- Paroxysmal extreme pain disorder (disorder)
- Partial epilepsy with auditory aura
- Patterson Stevenson Fontaine syndrome (disorder)
- Pelvis shoulder dysplasia (disorder)
- Perinatal lethal bent bone dysplasia
- Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, Hirschsprung disease (disorder)
- Peripheral dysostosis (disorder)
- Peripheral neuropathy with sensorineural hearing impairment syndrome (disorder)
- Peripheral resistance to thyroid hormone (disorder)
- Piebaldism (disorder)
- Piebald trait with neurologic defects syndrome
- Pitt-Hopkins syndrome
- PLIN1-related familial partial lipodystrophy
- POIKTMP syndrome
- Polydactyly myopia syndrome (disorder)
- Polydactyly of biphalangeal thumb (disorder)
- Polydactyly of index finger (disorder)
- Polydactyly of triphalangeal thumb (disorder)
- Polyvalvular heart disease syndrome (disorder)
- Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome
- Postaxial tetramelic oligodactyly
- Posterior amorphous corneal dystrophy (disorder)
- Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)
- Potassium aggravated myotonia (disorder)
- Potassium voltage-gated channel subfamily Q member 2 related epileptic encephalopathy (disorder)
- Preaxial deficiency, postaxial polydactyly, hypospadias syndrome (disorder)
- Primary hyperaldosteronism, seizures, neurological abnormalities syndrome (disorder)
- Primary pigmented nodular adrenocortical disease (disorder)
- Prion protein systemic amyloidosis (disorder)
- Progressive bifocal chorioretinal atrophy (disorder)
- Progressive myoclonic epilepsy type 5 (disorder)
- Progressive myositis ossificans
- Progressive osseous heteroplasia (disorder)
- Progressive sensorineural hearing loss and hypertrophic cardiomyopathy syndrome (disorder)
- Protein kinase cAMP-dependent type I regulatory subunit beta-related neurodegenerative dementia with intermediate filaments
- Pseudohyperaldosteronism type 2
- Pseudohypoparathyroidism type 1C (disorder)
- Pseudoprimary hyperaldosteronism (disorder)
- PTEN hamartoma tumor syndrome (disorder)
- Ptosis and vocal cord paralysis syndrome (disorder)
- Punctate palmoplantar keratoderma type 1 (disorder)
- Punctate palmoplantar keratoderma type 2 (disorder)
- Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder)
- Radio-renal syndrome (disorder)
- Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)
- Ramos Arroyo syndrome (disorder)
- Rapid onset dystonia parkinsonism
- Recurrent infection, inflammatory syndrome due to zinc metabolism disorder syndrome
- Renal coloboma syndrome (disorder)
- Reticular dystrophy of retinal pigment epithelium (disorder)
- Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
- Retinal macular dystrophy type 2
- Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
- Rhabdoid tumour predisposition syndrome
- Ring dermoid of cornea (disorder)
- Roch Leri mesosomatous lipomatosis (disorder)
- Rombo syndrome (disorder)
- Roussy-Lévy syndrome
- Saethre-Chotzen syndrome
- Scalp defect postaxial polydactyly syndrome (disorder)
- Schilbach Rott syndrome (disorder)
- Schmitt Gillenwater Kelly syndrome
- Seborrhea-like dermatitis with psoriasiform elements (disorder)
- Sensorineural deafness with dilated cardiomyopathy syndrome (disorder)
- Severe early-onset obesity insulin resistance syndrome due to SH2B adaptor protein 1 deficiency (disorder)
- Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome
- Severe intellectual disability, poor language, strabismus, grimacing face, long fingers syndrome (disorder)
- Shokeir syndrome
- Short fifth metacarpal insulin resistance syndrome (disorder)
- Short stature-characteristic facies-mental retardation-macrodontia-skeletal anomalies syndrome (disorder)
- Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder)
- Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)
- Short stature with valvular heart disease and characteristic facies syndrome (disorder)
- Short tarsus with absence of lower eyelashes syndrome (disorder)
- Shprintzen Goldberg craniosynostosis syndrome (disorder)
- Shprintzen Goldberg omphalocele syndrome (disorder)
- Sillence syndrome
- Simosa Penchaszadeh Bustos syndrome
- Sodium channelopathy-related small fibre neuropathy
- Spastic ataxia with congenital miosis
- Spheroid body myopathy
- Spinocerebellar ataxia type 10 (disorder)
- Spinocerebellar ataxia type 11 (disorder)
- Spinocerebellar ataxia type 12 (disorder)
- Spinocerebellar ataxia type 13 (disorder)
- Spinocerebellar ataxia type 14 (disorder)
- Spinocerebellar ataxia type 15/16 (disorder)
- Spinocerebellar ataxia type 17 (disorder)
- Spinocerebellar ataxia type 18 (disorder)
- Spinocerebellar ataxia type 19 (disorder)
- Spinocerebellar ataxia type 1 (disorder)
- Spinocerebellar ataxia type 20 (disorder)
- Spinocerebellar ataxia type 21 (disorder)
- Spinocerebellar ataxia type 23 (disorder)
- Spinocerebellar ataxia type 25 (disorder)
- Spinocerebellar ataxia type 26 (disorder)
- Spinocerebellar ataxia type 27 (disorder)
- Spinocerebellar ataxia type 28 (disorder)
- Spinocerebellar ataxia type 29 (disorder)
- Spinocerebellar ataxia type 2 (disorder)
- Spinocerebellar ataxia type 30 (disorder)
- Spinocerebellar ataxia type 31 (disorder)
- Spinocerebellar ataxia type 32 (disorder)
- Spinocerebellar ataxia type 34 (disorder)
- Spinocerebellar ataxia type 35 (disorder)
- Spinocerebellar ataxia type 36 (disorder)
- Spinocerebellar ataxia type 37 (disorder)
- Spinocerebellar ataxia type 38 (disorder)
- Spinocerebellar ataxia type 40 (disorder)
- Spinocerebellar ataxia type 4 (disorder)
- Spinocerebellar ataxia type 5 (disorder)
- Spinocerebellar ataxia type 6 (disorder)
- Spinocerebellar ataxia type 7 (disorder)
- Spinocerebellar ataxia type 8 (disorder)
- Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)
- Spondyloepimetaphyseal dysplasia Handigodu type
- Spondyloepimetaphyseal dysplasia, hypotrichosis syndrome
- Spondyloepimetaphyseal dysplasia Missouri type (disorder)
- Spondyloepimetaphyseal dysplasia with multiple dislocations
- Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)
- Spondyloepiphyseal dysplasia Kimberley type (disorder)
- Spondyloepiphyseal dysplasia Maroteaux type (disorder)
- Spondyloepiphyseal dysplasia Reardon type (disorder)
- Spondyloepiphyseal dysplasia with myopia and sensorineural deafness syndrome (disorder)
- Spondylometaphyseal dysplasia Schmidt type (disorder)
- Spondyloperipheral dysplasia (disorder)
- Stapes ankylosis with broad thumb and toe syndrome (disorder)
- Steinfeld syndrome (disorder)
- Stern Lubinsky Durrie syndrome (disorder)
- Stickler syndrome non-ocular type
- STING-associated vasculopathy with onset in infancy (disorder)
- Striate palmoplantar keratoderma (disorder)
- Subepithelial mucinous corneal dystrophy (disorder)
- Symphalangism with multiple anomalies of hands and feet
- Syndactyly type 1 (disorder)
- Syndactyly type 2 (disorder)
- Syndactyly type 3 (disorder)
- Syndactyly type 4 (disorder)
- Syndactyly type 5 (disorder)
- Syndromic hypoplasia of orbital border (disorder)
- Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder)
- Tall stature, scoliosis, macrodactyly of great toe syndrome
- Tarsal-carpal coalition syndrome
- Temple Baraitser syndrome (disorder)
- Tetramelic monodactyly
- Thickened earlobe with conductive deafness syndrome (disorder)
- Thin basement membrane nephropathy
- Thoracolaryngopelvic dysplasia
- Thumb deformity, alopecia, pigmentation anomaly syndrome (disorder)
- Thumb stiffness, brachydactyly, intellectual disability syndrome (disorder)
- Tibial aplasia and ectrodactyly syndrome (disorder)
- Timothy syndrome type 2 (disorder)
- Transient neonatal multiple acyl-coenzyme A dehydrogenase deficiency (disorder)
- Transthyretin related familial amyloid cardiomyopathy (disorder)
- Tremor, nystagmus, duodenal ulcer syndrome (disorder)
- Trichodysplasia xeroderma syndrome (disorder)
- Trichorhinophalangeal syndrome type 1 and 3
- Trigonocephaly with broad thumb syndrome (disorder)
- Triphalangeal thumb and dislocation of patella syndrome (disorder)
- Triphalangeal thumb and polysyndactyly syndrome (disorder)
- Triphalangeal thumb with brachyectrodactyly syndrome (disorder)
- Trisomy 11p15.4
- Tuberous sclerosis syndrome
- Tubular renal disease with cardiomyopathy syndrome (disorder)
- Typus Edinburgensis
- Ulna fibula ray defect and brachydactyly syndrome (disorder)
- Ulna metaphyseal dysplasia syndrome (disorder)
- Ulnar mammary syndrome
- Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)
- Upington disease
- Uveal coloboma with cleft lip and palate and intellectual disability syndrome (disorder)
- Velofacioskeletal syndrome (disorder)
- von Willebrand disease type 1
- White platelet syndrome (disorder)
- Wolfram-like syndrome (disorder)
- WT limb blood syndrome (disorder)
- ZASP (Z-band alternatively spliced PDZ motif protein) related myofibrillar myopathy
- Zimmermann-Laband syndrome
In other languages
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Persian
URI
http://www.irandoc.acir/onto/irandoc/11164009
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