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Disease	Synonyms	Description
autosomal recessive intellectual developmental disorder 14		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. [-]
autosomal recessive intellectual developmental disorder 16		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. [-]
autosomal recessive intellectual developmental disorder 18		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. [-]
autosomal recessive intellectual developmental disorder 29		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. [-]
autosomal recessive intellectual developmental disorder 27		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. [-]
autosomal recessive intellectual developmental disorder 33		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. [-]
autosomal recessive intellectual developmental disorder 30		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. [-]
autosomal recessive intellectual developmental disorder 23		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. [-]
autosomal recessive intellectual developmental disorder 24		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in inkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. [-]
autosomal recessive intellectual developmental disorder 25		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. [-]
autosomal recessive intellectual developmental disorder 28		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. [-]
autosomal recessive intellectual developmental disorder 35		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. [-]
autosomal recessive intellectual developmental disorder 37		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. [-]
autosomal recessive intellectual developmental disorder 38		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. [-]
autosomal recessive intellectual developmental disorder 40		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. [-]
autosomal recessive intellectual developmental disorder 41		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. [-]
autosomal recessive intellectual developmental disorder 43		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. [-]
autosomal recessive intellectual developmental disorder 44		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. [-]
autosomal recessive intellectual developmental disorder 45		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. [-]
autosomal recessive intellectual developmental disorder 46		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. [-]
autosomal recessive intellectual developmental disorder 47		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. [-]
autosomal recessive intellectual developmental disorder 48		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. [-]
autosomal recessive intellectual developmental disorder 50		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. [-]
autosomal recessive intellectual developmental disorder 51		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. [-]
autosomal recessive intellectual developmental disorder 52		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. [-]
autosomal recessive intellectual developmental disorder 54		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. [-]
autosomal recessive intellectual developmental disorder 74		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. [-]
autosomal recessive intellectual developmental disorder 57		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. [-]
autosomal recessive intellectual developmental disorder 58		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. [-]
autosomal recessive intellectual developmental disorder 59		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. [-]
autosomal recessive intellectual developmental disorder 60		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. [-]
autosomal recessive intellectual developmental disorder 63		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. [-]
autosomal recessive intellectual developmental disorder 64		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. [-]
autosomal recessive intellectual developmental disorder 65		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. [-]
autosomal recessive intellectual developmental disorder 66		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. [-]
autosomal recessive intellectual developmental disorder 67		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. [-]
autosomal recessive intellectual developmental disorder 68		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. [-]
autosomal recessive intellectual developmental disorder 69		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. [-]
autosomal recessive intellectual developmental disorder 70		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. [-]
autosomal recessive intellectual developmental disorder 71		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. [-]
autosomal recessive intellectual developmental disorder 73		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. [-]
autosomal recessive intellectual developmental disorder 75		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. [-]
autosomal recessive intellectual developmental disorder 76		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. [-]
autosomal recessive intellectual developmental disorder 77		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. [-]
acromesomelic dysplasia-3	Demirhan-type acromesomelic dysplasia	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. [-]
acromesomelic dysplasia-4		An acromesomelic dysplasia that is characterized b..[+] An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. [-]
autoimmune interstitial lung, joint, and kidney disease	Autoimmune interstitial lung disease-arthritis syn.. [+] Autoimmune interstitial lung disease-arthritis syndrome; COPA syndrome [-]	A syndrome that is characterized by interstitial l..[+] A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. [-]
astrocytoma, IDH-mutant, grade 2		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. [-]
astrocytoma, IDH-mutant, grade 3		An IDH-mutant anaplastic astrocytoma that is chara..[+] An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. [-]
angiocentric glioma		A low grade glioma that is characterized by an ang..[+] A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. [-]