Concept information
Preferred term
Developmental hereditary disorder
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
- Aase syndrome
- Achondroplasia
- Achromatopsia
- Acrocephalosyndactyly (Apert)
- Acrodysostosis
- Adams-Oliver syndrome
- Aicardi's syndrome
- Albinism
- Albinotic fundus
- Alstrom syndrome
- Antley-Bixler syndrome
- Arteriohepatic dysplasia
- Asymmetric crying face association
- Ataxia-telangiectasia syndrome
- Autosomal dominant hypohidrotic ectodermal dysplasia syndrome
- Autosomal dominant hypophosphataemic bone disease
- Autosomal recessive asexual dwarfism
- Axenfeld anomaly
- Baller-Gerold syndrome
- Bardet-Biedl syndrome
- Beckwith-Wiedemann syndrome
- Bilateral hypoplasia of tibia and postaxial polydactyly syndrome (disorder)
- Borjeson-Forssman-Lehmann syndrome
- Brachydactyly and arterial hypertension syndrome (disorder)
- Capillary fragility - hereditary
- Cardiospondylocarpofacial syndrome (disorder)
- Cataract glaucoma syndrome (disorder)
- Central core disease
- Cleft palate, large ears, small head syndrome
- Cleidocranial dysostosis
- Cockayne syndrome
- Cohen syndrome
- Congenital adrenal hyperplasia
- Congenital aplasia of lacrimal gland co-occurrent with congenital aplasia of salivary gland (disorder)
- Crouzon syndrome
- Diaphyseal dysplasia
- Dubin-Johnson syndrome
- Dyggve-Melchior-Clausen syndrome
- Dyskeratosis congenita
- Dysmorphic sialidosis, congenital form
- Dysostosis multiplex group
- Epidermolysis bullosa
- Familial adrenocortical hypoplasia
- Familial x-linked hypophosphatemic vitamin D refractory rickets
- Fanconi pancytopenia syndrome
- Fibrous skin tumor of tuberous sclerosis
- Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)
- Focal dermal hypoplasia
- Gardner syndrome
- Glycogenosis with glucoaminophosphaturia
- Grebe syndrome
- Hereditary acantholytic dermatosis
- Hereditary infantile gigantism
- Holt-Oram syndrome
- Hyperphosphatasemia with mental retardation
- Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder)
- Inherited arthrogryposis
- Intellectual disability, truncal obesity, retinal dystrophy and micropenis syndrome (disorder)
- Kallman syndrome with heart disease (disorder)
- Knuckle pads, deafness AND leukonychia syndrome
- Larsen syndrome
- Lowe syndrome
- Macular corneal dystrophy
- Marinesco-Sjogren syndrome
- Maroteaux-Lamy syndrome
- Marshall-Smith syndrome
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
- Melnick-Fraser syndrome
- Menkes kinky-hair syndrome
- Metaphyseal chondrodysplasia, McKusick type
- Mohr syndrome
- Moyamoya angiopathy, short stature, facial dysmorphism, hypergonadotropic hypogonadism syndrome (disorder)
- Nail-patella syndrome
- Noonan syndrome-like disorder with loose anagen hair (disorder)
- Opitz-Frias syndrome
- Osler hemorrhagic telangiectasia syndrome
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts
- Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
- Pancreatic insufficiency, dyserythropoietic anemia, calvarial hyperostosis syndrome (disorder)
- Papillon-Lefèvre syndrome
- Parietal foramina with clavicular hypoplasia
- Pendred's syndrome
- Pfeiffer syndrome
- Pili torti-deafness syndrome
- Polycystic kidney disease, infantile type
- Pseudohypoparathyroidism type I A
- Pyle metaphyseal dysplasia
- Radial aplasia-thrombocytopenia syndrome
- Retinitis pigmentosa-deafness syndrome
- Rhizomelic chondrodysplasia punctata syndrome
- Rieger syndrome
- Roberts-SC phocomelia syndrome
- Robinow syndrome
- Robin sequence with cleft mandible and limb anomalies syndrome
- Rothmund-Thomson syndrome
- Rubinstein-Taybi syndrome
- Scalp, ear, nipple syndrome (disorder)
- Schinzel-Giedion syndrome
- Schmitt Gillenwater Kelly syndrome
- Severe x-linked myotubular myopathy
- Shokeir syndrome
- Shwachman syndrome
- Sotos' syndrome
- Splenogonadal fusion, limb defect, micrognathia syndrome (disorder)
- Spondyloepiphyseal dysplasia tarda
- Stickler syndrome
- Treacher Collins syndrome
- Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)
- Werner syndrome
- Xeroderma pigmentosum
- X-linked asexual dwarfism
- X-linked cleft palate and ankyloglossia
- X-linked hydrocephalus syndrome
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)
- X-linked spasticity, intellectual disability, epilepsy syndrome (disorder)
- XTE syndrome
- Zellweger syndrome
Pathological process
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/363070008
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