About: autosomal recessive disease

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Attributes	Values
type	Class
subClassOf	autosomal genetic disease
equivalentClass	nodeID://b50937498
label	autosomal recessive disease
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050737
created_by	lschriml
creation_date	2012-07-24T12:51:47Z
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
is subClassOf of	Ellis-Van Creveld syndrome epidermodysplasia verruciformis abetalipoproteinemia familial lipoprotein lipase deficiency Sjogren-Larsson syndrome hypertelorism, microtia, facial clefting syndrome multiple intestinal atresia diastrophic dysplasia Johanson-Blizzard syndrome thrombocytopenia-absent radius syndrome beta-ketothiolase deficiency autosomal recessive type IV Ehlers-Danlos syndrome cartilage-hair hypoplasia brittle cornea syndrome 1 Dubowitz syndrome cystic fibrosis Laurence-Moon syndrome Nezelof syndrome factor XIII deficiency factor VII deficiency factor V deficiency factor X deficiency factor XII deficiency prothrombin deficiency congenital afibrinogenemia gangliosidosis Bloom syndrome pseudoxanthoma elasticum glycogen storage disease V glycogen storage disease III Chediak-Higashi syndrome Papillon-Lefevre disease central core disease Lafora disease Canavan disease antithrombin III deficiency pantothenate kinase-associated neurodegeneration Roberts syndrome spondyloepimetaphyseal dysplasia, Sponastrime type Werner syndrome purine nucleoside phosphorylase deficiency Nijmegen breakage syndrome biotinidase deficiency carbamoyl phosphate synthetase I deficiency disease Laron syndrome xeroderma pigmentosum mulibrey nanism Usher syndrome mucosulfatidosis Gitelman syndrome Antley-Bixler syndrome Donohue syndrome Alstrom syndrome Netherton syndrome nonphotosensitive trichothiodystrophy 4 adult spinal muscular atrophy intermediate spinal muscular atrophy Charcot-Marie-Tooth disease type 3 congenital adrenal insufficiency Saldino-Noonan syndrome JMP syndrome Ullrich congenital muscular dystrophy Walker-Warburg syndrome autosomal recessive nonsyndromic deafness Seckel syndrome Senior-Loken syndrome cranioectodermal dysplasia glycogen storage disease XV congenital generalized lipodystrophy muscular dystrophy-dystroglycanopathy ABCD syndrome triple-A syndrome acheiropody acrocapitofemoral dysplasia oculocutaneous albinism alopecia universalis anauxetic dysplasia 1 atransferrinemia pseudo-TORCH syndrome 1 Bjornstad syndrome Athabaskan brainstem dysgenesis syndrome Bowen-Conradi syndrome 3-Methylcrotonyl-CoA carboxylase deficiency aceruloplasminemia AGAT deficiency ARC syndrome choreaacanthocytosis rapadilino syndrome hydrolethalus syndrome fibular hypoplasia and complex brachydactyly

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