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DOID:0050737 - autosomal recessive disease
Disease Ontology Definition: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.
Synonyms:
Echinobase Genes
:
micu1,
chat,
wrn,
lrmda,
fras1,
pcdh15,
hgsnat,
vps37a,
fat4,
atrx,
dync2h1,
nek1,
xpnpep3,
LOC105444109,
wdr19,
[+]
mccc1, tbc1d24, rnaseh2b, ears2, ift80, myo7a, bcs1l, wrap53, cep63, pex1, otof, LOC582974, lmf1, ercc6, ift140,
slc35a1, abcc6, wdr11, nt5c2, nsd1, hpse2, rnaseh2a, hps1, nhp2, dctn1, uvssa, mgat2, eif2ak3, nmnat1, sil1,
mrps22, slc7a14, nphp4, slc45a2, park7, abcb4, abcb4, LOC578254, hspg2, dcaf17, cep290, aspm, twnk, smarcal1, aaas,
psmc3ip, kars1, itga6, rab18, emg1, hfm1, bckdk, slc25a1, snap29, trim37, por, LOC583929, rogdi, slc37a4, acat1,
sod1, arl6, fancc, ercc4, eif2b2, eif2b3, nek8, exosc3, orc1, npr2, clpp, agl, cth, alg6, ercc8,
whrn, bbs1, ush2a, vsx2, LOC754546, rnaseh2c, ercc2, polh, banf1, LOC579215, pnpt1, tbce, cdan1, lyst, iyd,
b3galnt2, nphp1, LOC100891460, b4gat1, sdccag8, slc35c1, epg5, crppa, rab27a, cep152, iqcb1, acad9, gmppb, cln3, gns,
msrb3, rxylt1, ttc21b, dclre1c, ift122, wdr35, LOC548617, nphp3, gmppa, dna2, wnt10b, rab3gap1, cdc6, arl2bp, pepd,
dpm1, spg7, pigt, recql4, lars2, nbn, tbc1d20, anks6, galns, cdt1, pomgnt2, orc6, galt, nr2e3, aldh7a1,
eif2b5, xpa, blm, rgs9bp, adgrv1
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal genetic disease (is_a)