Disorders: D

Disorders Alternate Names Genes Inheritance Pattern
Danon Disease Antopol disease, pseudoglycogenosis II, vacuolar cardiomyopathy and myopathy LAMP2 X-linked dominant
Dermochondrocorneal Dystrophy DCCD, Francois syndrome ? ?
Developmental Delay with Short Stature, Dysmorphic Features, and Sparse Hair DEDSSH, Loucks-Innes Syndrome DPH1 autosomal recessive
Donnai-Barrow Syndrome DBS/FOAR syndrome, faciooculoacousticorenal syndrome, Holmes-Schepens syndrome LRP2 autosomal recessive
Doyne Honeycomb Macular Dystrophy DHD, DHRD, Doyne Honeycomb Degeneration of the Retina, Malattia Leventinese, MLVT, radial drusen EFEMP1 autosomal dominant
Duane Retraction Syndrome 1 DRS, Duane anomaly, Duane syndrome, DURS1, DUS, Stilling-Turk-Duane syndrome 8q13 locus autosomal dominant
Duane Retraction Syndrome 2 Duane anomaly, Duane retraction syndrome, DURS2, Stilling-Turk-Duane syndrome CHN1 autosomal dominant
Duane Retraction Syndrome 3 DURS3 MAFB autosomal dominant
Duane-Radial Ray Syndrome acrorenoocular syndrome, colobomas, DDRS, DR syndrome, Duane anomaly with radial ray abnormalities and deafness, IVIC syndrome, Okihiro syndrome SALL4 autosomal dominant
Dysautonomia, Familial DYS, FD, hereditary sensory and autonomic neuropathy III, HSAN III, HSAN3, Riley-Day syndrome DST, IKBKAP autosomal recessive
Dyskeratosis Congenita DCKB1, DCKB2, DCKB3, DCKB4, DKCA1 (Scoggins type), DKCA2, DKCA3, DKCX (Zinsser-Cole-Engman) DKC1, NOLA2, NOLA3, TERC, TERT, TINF2, WRAP53 autosomal dominant, autosomal recessive, X-linked recessive
Dyskeratosis, Hereditary Benign Intraepithelial DKBI, HBID NLRP1 autosomal dominant
Dystonia, Childhood Onset, With Optic Atrophy dystonia 29 childhood onset, DYTOABG MECR autosomal recessive