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Disease	Synonyms	Description
autosomal dominant nonsyndromic deafness 40	DFNA40; autosomal dominant deafness 40	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. [-]
autosomal dominant nonsyndromic deafness 41	DFNA41; autosomal dominant deafness 41	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in mutation in the P2RX2 gene on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 43	DFNA43; autosomal dominant deafness 43	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. [-]
autosomal dominant nonsyndromic deafness 44	DFNA44; autosomal dominant deafness 44	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. [-]
autosomal dominant nonsyndromic deafness 47	DFNA47; autosomal dominant deafness 47	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. [-]
autosomal dominant nonsyndromic deafness 48	DFNA48; autosomal dominant deafness 48	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. [-]
autosomal dominant nonsyndromic deafness 49	DFNA49; autosomal dominant deafness 49	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. [-]
autosomal dominant nonsyndromic deafness 4A	DFNA4A; autosomal dominant deafness 4A	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. [-]
autosomal dominant nonsyndromic deafness 4B	DFNA4B; autosomal dominant deafness 4B	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal dominant nonsyndromic deafness 5	DFNA5; autosomal dominant deafness 5	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss and has_material_basis_in mutation in the DFNA5 gene on chromosome 7p15. [-]
autosomal dominant nonsyndromic deafness 50	DFNA50; autosomal dominant deafness 50	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. [-]
autosomal dominant nonsyndromic deafness 51	DFNA51; autosomal dominant deafness 51; chromosome.. [+] DFNA51; autosomal dominant deafness 51; chromosome 9q21.11 duplication syndrome [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. [-]
autosomal dominant nonsyndromic deafness 52	DFNA52; autosomal dominant deafness 52	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31.1-q32. [-]
autosomal dominant nonsyndromic deafness 53	DFNA53; autosomal dominant deafness 53	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. [-]
autosomal dominant nonsyndromic deafness 54	DFNA54; autosomal dominant deafness 54	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. [-]
autosomal dominant nonsyndromic deafness 56	DFNA56; autosomal dominant deafness 56	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. [-]
autosomal dominant nonsyndromic deafness 58	DFNA58; autosomal dominant deafness 58	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. [-]
autosomal dominant nonsyndromic deafness 59	DFNA59; autosomal dominant deafness 59	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. [-]
autosomal dominant nonsyndromic deafness 6	DFNA38; DFNA6; DFNA14; autosomal dominant deafness.. [+] DFNA14; DFNA6; DFNA38; autosomal dominant deafness 14; autosomal dominant deafness 38; autosomal dominant deafness 6 [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. [-]
autosomal dominant nonsyndromic deafness 64	DFNA64; autosomal dominant deafness 64	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 65	DFNA65; autosomal dominant deafness 65	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. [-]
autosomal dominant nonsyndromic deafness 66	DFNA66; autosomal dominant deafness 66	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. [-]
autosomal dominant nonsyndromic deafness 67	DFNA67; autosomal dominant deafness 67	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. [-]
autosomal dominant nonsyndromic deafness 68	DFNA68; autosomal dominant deafness 68	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. [-]
autosomal dominant nonsyndromic deafness 69	DFNA69; DCUA; autosomal dominant deafness 69; unil.. [+] DCUA; DFNA69; autosomal dominant deafness 69; unilateral or asymmetric congenital deafness [-]	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. [-]
autosomal dominant nonsyndromic deafness 7	DFNA7; autosomal dominant deafness 7	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. [-]
autosomal dominant nonsyndromic deafness 70	DFNA70; autosomal dominant deafness 70	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. [-]
autosomal dominant nonsyndromic deafness 9	DFNA9; autosomal dominant deafness 9	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. [-]
rigid spine muscular dystrophy 1	desmin-related myopathy with Mallory body-like inc.. [+] desmin-related myopathy with Mallory body-like inclusions; desmin-related myopathy with Mallory bodies; classic MmD; congenital merosin-positive muscular dystrophy with early spine rigidity; early-onset desmin-related myopathy; Eichsfeld type congenital muscular dystrophy; MDRS1; RSS; severe classic form minicore myopathy; severe classic form multicore myopathy; severe classic form multiminicore disease; classic multiminicore myopathy; RSMD1; classic multiminicore disease; rigid spine syndrome; SEPN1-related myopathy [-]	A congenital muscular dystrophy characterized by i..[+] A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. [-]
hereditary spastic paraplegia 17	dHMN5B; distal hereditary motor neuropathy type 5B.. [+] dHMN5B; distal hereditary motor neuropathy type 5B; autosomal dominant spastic paraplegia 17; autosomal dominant spastic paraplegia type 17; Silver spastic paraplegia syndrome; Silver syndrome; spastic paraplegia with amyotrophy of hands and feet; spastic paraplegia-amyotrophy of hands and feet; SPG17 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. [-]
rhizomelic chondrodysplasia punctata type 2	Dihydroxyacetonephosphate Acyltransferase Deficien.. [+] Dihydroxyacetonephosphate Acyltransferase Deficiency; Dhapat Deficiency; Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Gnpat Deficiency; Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; Rcdp2 [-]	A rhizomelic chondrodysplasia punctata that has_ma..[+] A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. [-]
autosomal recessive distal hereditary motor neuronopathy 1	DSMA1; distal spinal muscular atrophy 1; distal-HM.. [+] distal spinal muscular atrophy 1; DSMA1; distal-HMN type 6; distal hereditary motor neuropathy type 6; diaphragmatic spinal muscular atrophy; dHMN6; autosomal recessive spinal muscular atrophy with respiratory distress; severe infantile axonal neuropathy with respiratory failure type 1; SIANRF; SMARD1; spinal muscular atrophy with respiratory distress type 1; autosomal recessive distal spinal muscular atrophy 1 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. [-]
autosomal recessive distal hereditary motor neuronopathy 2	distal spinal muscular atrophy 2; distal hereditar.. [+] distal spinal muscular atrophy 2; distal hereditary motor neuropathy Jerash type; dHMNJ; DSMA2; spinal muscular atrophy Jerash type; autosomal recessive distal spinal muscular atrophy 2 [-]	A spinal muscular atrophy characterized by autosom..[+] A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. [-]
tibial muscular dystrophy	distal titinopathy; Finnish tibial muscular dystro.. [+] distal titinopathy; Finnish tibial muscular dystrophy; Tardive tibial muscular dystrophy; TMD; Udd type distal myopathy; Udd myopathy [-]	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. [-]
maturity-onset diabetes of the young type 8	diabetes and pancreatic exocrine; maturity-onset d.. [+] diabetes and pancreatic exocrine; maturity-onset diabetes of the young type 8 with exocrine dysfunction; MODY type 8; MODY8 [-]	A maturity-onset diabetes of the young that has_ma..[+] A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. [-]
partial trisomy distal 4q	Duplication 4q Syndrome, Partial; Dup(4q) Syndrome.. [+] Duplication 4q Syndrome, Partial; Dup(4q) Syndrome, Partial; Distal 4q Trisomy; Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included); Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included); Partial Trisomy 4q Syndrome [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. [-]
sepiapterin reductase deficiency	dopa-responsive dystonia due to sepiapterin reduct.. [+] dopa-responsive dystonia due to sepiapterin reductase deficiency; DRD due to SRD; SPR deficiency; SRD [-]	A dystonia characterized by sustained muscle contr..[+] A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. [-]
subcortical band heterotopia	double cortex syndrome; band heterotopia; HeCo; he.. [+] double cortex syndrome; band heterotopia; HeCo; heterotopic cortex; subcortical laminar heterotopia [-]	A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. [-]
X-linked distal spinal muscular atrophy 3	DSMAX; ATP7A-related distal motor neuropathy; SMAX.. [+] DSMAX; ATP7A-related distal motor neuropathy; SMAX3; X-linked distal hereditary motor neuropathy type 3; X-linked dSMA3; X-linked dHMN3; X-linked recessive distal spinal muscular atrophy [-]	A spinal muscular atrophy characterized by slowly ..[+] A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. [-]
autosomal dominant distal hereditary motor neuronopathy 7	distal spinal muscular atrophy with vocal cord par.. [+] distal spinal muscular atrophy with vocal cord paralysis type 7A; distal hereditary motor neuropathy type VIIA; distal hereditary motor neuronopathy type 7; DHMN7A; distal spinal muscular atrophy with vocal cord paralysis; DHMNVPy; dHMN7; Harper-Young myopath; HMN VIIA; HMN7A [-]	An autosomal dominant distal hereditary motor neur..[+] An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. [-]