Concept information
Preferred term
Recessive hereditary disorder, NOS
Type
-
http://www.irandoc.ac.ir/onto/irandoc-meta/Concept
Broader concept
Narrower concepts
- 3-Beta-hydroxy-delta-5-C27-steroid dehydrogenase deficiency
- 3-Methylglutaconic aciduria type 1
- 3-Methylglutaconic aciduria type 4
- ABL - Abetalipoproteinaemia
- alpha-1-Antitrypsin deficiency
- Alpha-methylacyl-CoA racemase deficiency disorder
- Amelogenesis imperfecta, pigmented hypomaturation type
- Amelogenesis imperfecta - recessive - rough
- Ateliotic dwarfism without insulinopenia
- Atelosteogenesis type 2
- Attenuated Chédiak-Higashi syndrome (disorder)
- Autosomal recessive idiopathic familial dystonia
- Autosomal recessive muscular dystrophy not predominantly limb girdle
- Autosomal recessive muscular dystrophy with limb girdle distribution
- Autosomal recessive retinitis pigmentosa
- Autosomal recessive sick sinus syndrome (disorder)
- Bradyopsia (disorder)
- Cerebral folate transport deficiency (disorder)
- Complete factor I deficiency
- Congenital adrenal hyperplasia
- Congenital alpha-2-antiplasmin deficiency (disorder)
- Congenital nephrotic syndrome
- Congenital pancreatic enterokinase deficiency
- Congenital transferrin deficiency
- Costeff syndrome
- Craniodiaphyseal dysplasia
- Craniometadiaphyseal dysplasia wormian bone type (disorder)
- Curry-Hall syndrome
- Cutis laxa, autosomal recessive
- cystic fibrosis
- Cystinosis
- Deficiency of transphosphoribosidase
- Delta-4-3-oxosteroid-5-beta-reductase deficiency
- Desbuquois syndrome
- Diaphragmatic defect, limb deficiency, skull defect syndrome (disorder)
- Diffuse mesangial sclerosis with ocular abnormalities
- Distal muscular dystrophy, Miyoshi type
- Enamel-renal syndrome
- Endosteal hyperostoses with cerebellar hypoplasia
- Epilepsy telangiectasia syndrome (disorder)
- Familial hypertryptophanemia (disorder)
- Fatty acid oxidation defect (disorder)
- Galactosylceramide beta-galactosidase deficiency
- Galactosylceramide lipidosis
- Geroderma osteodysplastica
- Glucagon receptor-related hyperglucagonemia (disorder)
- Glycogen heart disease
- GM1 gangliosidosis
- Growth retardation, alopecia, pseudoanodontia, optic atrophy syndrome (disorder)
- Hall Berg Rudolph syndrome
- Hemoglobin E/beta thalassemia disease
- Hepatic glycogen synthase deficiency (disorder)
- Hereditary dysautonomia with motor neuropathy
- HNSHA due to glutathione synthetase deficiency
- Hypogonadism, diabetes mellitus, alopecia ,mental retardation and electrocardiographic abnormalities
- Hypomagnesemia with secondary hypocalcemia (disorder)
- Imerslund-Grasbeck anemia
- Immotile cilia syndrome
- Intellectual disability, hyperkinetic movement, truncal ataxia syndrome (disorder)
- Isomerism of right appendage
- Joubert syndrome (disorder)
- Junctional epidermolysis bullosa (disorder)
- Keutel syndrome (disorder)
- Laron-type isolated somatotropin defect
- Laurence-Moon syndrome
- Mandibuloacral dysostosis
- Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness
- Morquio syndrome
- Muscle-eye-brain disease, congenital muscular dystrophy
- OFD IV - Orofacial-digital syndrome IV
- Oguchi's disease
- Orofacial-digital syndrome III
- Phenylketonuria
- Polyglandular autoimmune syndrome, type 1
- Progressive cerebellar ataxia with hypogonadism
- Recessive dystrophic epidermolysis bullosa
- Refetoff syndrome
- Roifman-Melamed syndrome
- Sensorineural deafness and male infertility
- Sialidosis
- Sphingomyelin/cholesterol lipidosis
- Syndrome of apparent mineralocorticoid excess
- Tay-Sachs disease
- TCN2 - Transcobalamin II deficiency
- Tetrahydrobiopterin synthesis defect
- Total intestinal aganglionosis
- Walker-Warburg congenital muscular dystrophy
- Xeroderma pigmentosum
- XK aprosencephaly syndrome (disorder)
In other languages
-
Persian
URI
http://www.irandoc.acir/onto/irandoc/85995004
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