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Disease	Synonyms	Description
autosomal dominant nonsyndromic deafness 41	autosomal dominant deafness 41; DFNA41	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 autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 43	autosomal dominant deafness 43; DFNA43	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	autosomal dominant deafness 44; DFNA44	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	autosomal dominant deafness 47; DFNA47	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	autosomal dominant deafness 48; DFNA48	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	autosomal dominant deafness 49; DFNA49	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	autosomal dominant deafness 4A; DFNA4A	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	autosomal dominant deafness 4B; DFNA4B	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	autosomal dominant deafness 5; DFNA5	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 heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. [-]
autosomal dominant nonsyndromic deafness 50	autosomal dominant deafness 50; DFNA50	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	autosomal dominant deafness 51; DFNA51; chromosome.. [+] autosomal dominant deafness 51; DFNA51; 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 53	autosomal dominant deafness 53; DFNA53	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	autosomal dominant deafness 54; DFNA54	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	autosomal dominant deafness 56; DFNA56	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	autosomal dominant deafness 58; DFNA58	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	autosomal dominant deafness 59; DFNA59	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	autosomal dominant deafness 6; autosomal dominant .. [+] autosomal dominant deafness 6; autosomal dominant deafness 38; autosomal dominant deafness 14; DFNA38; DFNA6; DFNA14; DFNA6/14/38 [-]	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	autosomal dominant deafness 64; DFNA64	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	autosomal dominant deafness 65; DFNA65	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	autosomal dominant deafness 66; DFNA66	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	autosomal dominant deafness 67; DFNA67	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	autosomal dominant deafness 68; DFNA68	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	autosomal dominant deafness 69; DFNA69; DCUA; unil.. [+] autosomal dominant deafness 69; DFNA69; DCUA; 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	autosomal dominant deafness 7; DFNA7	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	autosomal dominant deafness 70; DFNA70	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	autosomal dominant deafness 9; DFNA9	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. [-]
autosomal recessive polycystic kidney disease	Arpkd; ARPKD; AR-PKD; Pkhd1; Polycystic Kidney Dis.. [+] AR-PKD; ARPKD; Arpkd; Pkhd1; Polycystic Kidney Disease, Infantile, Type I; Polycystic Kidney and Hepatic Disease 1; PKHD1 [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. [-]
adult hypophosphatasia	mild hypophosphatasia	A hypophosphatasia that has_material_basis_in a he..[+] A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. [-]
autosomal dominant osteopetrosis 1	autosomal dominant osteopetrosis type 1; OPTA1	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
autosomal dominant osteopetrosis 2	autosomal dominant osteopetrosis type II; Albers-S.. [+] autosomal dominant osteopetrosis type II; Albers-Schonberg osteopetrosis; autosomal dominant Albers-Schonberg disease; osteopetrosis autosomal dominant type 2; OPTA2 [-]	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 5	infantile malignant osteopetrosis 3; OPTB5	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. [-]
autosomal recessive osteopetrosis 8	OPTB8	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. [-]
autosomal recessive osteopetrosis 3	autosomal recessive osteopetrosis 3 with renal tub.. [+] autosomal recessive osteopetrosis 3 with renal tubular acidosis; OPTB3; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; marble brain disease; osteopetrosis with renal tubular acidosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. [-]
autosomal recessive osteopetrosis 1	autosomal recessive Albers-Schonberg disease; infa.. [+] autosomal recessive Albers-Schonberg disease; infantile malignant osteopetrosis 1; OPTB1 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. [-]
autosomal recessive osteopetrosis 2	mild autosomal recessive form osteopetrosis; OPTB2.. [+] mild autosomal recessive form osteopetrosis; OPTB2; osteoclast-poor osteopetrosis [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. [-]
autosomal recessive osteopetrosis 4	OPTB4; infantile malignant osteopetrosis 2	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal recessive osteopetrosis 6	autosomal recessive osteopetrosis intermediate for.. [+] autosomal recessive osteopetrosis intermediate form; OPTB6 [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. [-]
autosomal recessive osteopetrosis 7	autosomal recessive osteopetrosis type 7; autosoma.. [+] autosomal recessive osteopetrosis type 7; autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia; OPTB7; osteoclast-poor osteopetrosis with hypogammaglobulinemia; osteopetrosis-hypogammaglobulinemia syndrome [-]	An osteopetrosis characterized by autosomal recess..[+] An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. [-]
atypical Gaucher's disease due to saposin c deficiency		A Gaucher's disease that has_material_basis_in com..[+] A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. [-]
African iron overload	Bantu siderosis; iron overload in Africa	A hemochromatosis characterized by a predispositio..[+] A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. [-]
Ambras type hypertrichosis universalis congenita	Ambras syndrome; HTC1	A hypertrichosis characterized by autosomal domina..[+] A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. [-]
autosomal recessive distal hereditary motor neuronopathy 1	autosomal recessive spinal muscular atrophy with r.. [+] autosomal recessive spinal muscular atrophy with respiratory distress; autosomal recessive distal spinal muscular atrophy 1; DSMA1; distal spinal muscular atrophy 1; dHMN6; diaphragmatic spinal muscular atrophy; distal hereditary motor neuropathy type 6; distal-HMN type 6; severe infantile axonal neuropathy with respiratory failure type 1; SIANRF; SMARD1; spinal muscular atrophy with respiratory distress type 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	autosomal recessive distal spinal muscular atrophy.. [+] autosomal recessive distal spinal muscular atrophy 2; dHMNJ; distal spinal muscular atrophy 2; distal hereditary motor neuropathy Jerash type; DSMA2; spinal muscular atrophy Jerash type [-]	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. [-]
acquired von Willebrand syndrome	AVWS	A blood coagulation disease characterized by devel..[+] A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. [-]
angioimmunoblastic T-cell lymphoma		A peripheral T-cell lymphoma characterized by auto..[+] A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. [-]
autosomal recessive isolated ectopia lentis 2	ECTOL2	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. [-]
autosomal dominant isolated ectopia lentis 1	ECTOL1	An isolated ectopia lentis that has_material_basis..[+] An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. [-]
autosomal recessive spinocerebellar ataxia 21	autosomal recessive spinocerebellar ataxia 21 with.. [+] autosomal recessive spinocerebellar ataxia 21 with hepatopathy; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; SCAR21 [-]	An autosomal recessive cerebellar ataxia that has_..[+] An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. [-]
autosomal dominant sensory ataxia 1	ADSA; SNAX1	A hereditary ataxia characterized by gait difficul..[+] A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. [-]
autosomal dominant adult-onset proximal spinal muscular atrophy	autosomal dominant late-onset spinal muscular atro.. [+] autosomal dominant late-onset spinal muscular atrophy, Finkel type; autosomal dominant adult-onset proximal SMA; autosomal dominant adult proximal spinal muscular atrophy; Finkel disease; Finkel late-adult type SMA; SMAFK [-]	A spinal muscular atrophy characterized by adult-o..[+] A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. [-]

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