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Disease	Synonyms	Description
Warburg micro syndrome 1	Micro Syndrome 1; WARBM1	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. [-]
Warburg micro syndrome 2	Micro Syndrome 2; WARBM2	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. [-]
Warburg micro syndrome 3	Micro Syndrome 3; WARBM3	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. [-]
Warburg micro syndrome 4	Micro Syndrome 4; WARBM4	A Warburg micro syndrome that has_material_basis_i..[+] A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. [-]
neurodegeneration with brain iron accumulation 4	MPAN; Mitochondrial Protein-Associated Neurodegene.. [+] MPAN; Mitochondrial Protein-Associated Neurodegeneration; NBIA due to C19orf12 mutation; NBIA4; Neurodegeneration with brain iron accumulation due to C19orf12 mutation; Neurodegeneration with brain iron accumulation type 4 [-]	A neurodegeneration with brain iron accumulation t..[+] A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. [-]
posterior polymorphous corneal dystrophy 1	Maumenee Corneal Dystrophy; Ched1; Corneal Endothe.. [+] Maumenee Corneal Dystrophy; Ched1; Corneal Endothelial Dystrophy 1, Autosomal Dominant; Ppcd1 [-]	A posterior polymorphous corneal dystrophy that ha..[+] A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. [-]
congenital stationary night blindness 1A	myopia-night blindness; complete CSNB X-linked; co.. [+] myopia-night blindness; complete CSNB X-linked; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; hemeralopia-myopia; NBMI [-]	A congenital stationary night blindness that has_m..[+] A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. [-]
adult hypophosphatasia	mild hypophosphatasia	A hypophosphatasia that has_material_basis_in a he..[+] A hypophosphatasia that has_material_basis_in a heterozygous mutation of ALPL on chromosome 1p36.12. [-]
autosomal recessive osteopetrosis 3	marble brain disease; autosomal recessive osteopet.. [+] marble brain disease; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; Guibaud-Vainsel syndrome; OPTB3; 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 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. [-]
brachydactyly type A2	Mohr-Wriedt type brachydactyly; BDA2; brachymesoph.. [+] Mohr-Wriedt type brachydactyly; BDA2; brachymesophalangy II [-]	A brachydactyly characterized by autosomal dominan..[+] A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. [-]
hypermethioninemia due to adenosine kinase deficiency	MRT8; ADK hypermethioninemia; autosomal recessive .. [+] MRT8; ADK hypermethioninemia; autosomal recessive mental retardation 8; hypermethioninemia encephalopathy due to adenosine kinase deficiency; hypermethioninemia encephalopathy due to ADK deficiency [-]	A hypermethioninemia characterized by autosomal re..[+] A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. [-]
glycogen storage disease IXd	muscle phosphorylase kinase deficiency; glycogen s.. [+] muscle phosphorylase kinase deficiency; glycogen storage disease due to muscle phosphorylase kinase deficiency; glycogen storage disease type 9D; glycogen storage disease type 9E; glycogen storage disease type IXd; glycogen storage disease type IXe; glycogenosis due to muscle phosphorylase kinase deficiency; glycogenosis type 9D; glycogenosis type 9E; glycogenosis type IXd; glycogenosis type IXe; GSD due to muscle phosphorylase kinase deficiency; GSD IXd; GSD type 9D; GSD type 9E; GSD type IXd; GSD type IXe; GSD9D; X-linked muscke glycogenosis [-]	A glycogen storage disease IX characterized by X-l..[+] A glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material_basis_in mutation in the PHKA1 gene on chromosome Xq13. [-]
hyperphosphatemic familial tumoral calcinosis	morbus Teutschlaender; cortical hyperostosis with .. [+] morbus Teutschlaender; cortical hyperostosis with hyperphosphatemia; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome; familial Teutschlaender disease; HFTC; HHS; hypercalcemic tumoral calcinosis; hyperostosis with hyperphosphatemia; hyperphosphatemia hyperostosis; hyperphosphatemia hyperostosis syndrome; hyperphosphatemia tumoral calcinosis; lipocalcinogranulomatosis; PHPTC; primary hyperphosphatemic tumoral calcinosis; tumoral calcinosis with hyperphosphatemia [-]	A calcinosis characterized by autosomal recessive ..[+] A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. [-]
postural orthostatic tachycardia syndrome	mitral valve prolapse syndrome; familial orthostat.. [+] mitral valve prolapse syndrome; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
globozoospermia	male infertility due to round-headed spermatozoa; .. [+] male infertility due to round-headed spermatozoa; male infertility due to globozoospermia [-]	A male infertility characterized by round-headed s..[+] A male infertility characterized by round-headed spermatozoa lacking an acrosome. [-]
familial hemiplegic migraine 2	MHP2; Familial hemiplegic migraine-2; FHM2	A familial hemiplegic migraine that has_material_b..[+] A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. [-]
distal muscular dystrophy 3	MPD3; distal myopathy 3; distal myopathy type 3	A distal muscular dystrophy that has significant l..[+] A distal muscular dystrophy that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22. [-]
distal muscular dystrophy 4	MPD4; distal ABD-filaminopathy; distal myopathy 4; .. [+] MPD4; distal ABD-filaminopathy; distal myopathy 4; distal myopathy with posterior leg and anterior hand involvement [-]	A distal muscular dystrophy that has_material_basi..[+] A distal muscular dystrophy that has_material_basis_in heterozygous mutation in FLNC on 7q32. [-]
congenital muscular dystrophy-dystroglycanopathy type A11	MDDGA11; congenital muscular dystrophy-dystroglyca.. [+] MDDGA11; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11; Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. [-]
congenital muscular dystrophy-dystroglycanopathy A7	MDDGA7; congenital muscular dystrophy-dystroglycan.. [+] MDDGA7; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7; Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. [-]
congenital muscular dystrophy-dystroglycanopathy type A2	MDDGA2; congenital muscular dystrophy-dystroglycan.. [+] MDDGA2; congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2; Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related [-]	A congenital muscular dystrophy-dystroglycanopathy..[+] A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. [-]
hyaline body myopathy	myosin storage myopathy	A congenital myopathy characterized by accumulatio..[+] A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. [-]
familial progressive hyperpigmentation with or without hypopigmentation	MUH; melanosis universalis hereditaria; FPHH	A skin disease characterized by progressive, diffu..[+] A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. [-]
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1	multisystem proteinopathy 1; MSP1; IBMPFD1	An inclusion body myopathy with Paget disease of b..[+] An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. [-]
progressive myoclonus epilepsy 7	Myoclonus epilepsy and ataxia due to potassium cha.. [+] Myoclonus epilepsy and ataxia due to potassium channel mutation; MEAK; EPM7; PME type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; Progressive myoclonus epilepsy type 7 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Malouf syndrome; cardiogenital syndrome; cardiomyo.. [+] Malouf syndrome; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with premature ovarian failure; genital anomaly with cardiomyopathy; Najjar syndrome [-]	A syndrome characterized by dilated cardiomyopathy..[+] A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
syndromic microphthalmia 1	MCOPS1; Lenz dysplasia; Lenz microphthalmia; Lenz .. [+] MCOPS1; Lenz dysplasia; Lenz microphthalmia; Lenz type microphthalmia; syndromic microphthalmia 4 [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. [-]
syndromic microphthalmia 14	microphthalmia/coloboma and skeletal dysplasia syn.. [+] microphthalmia/coloboma and skeletal dysplasia syndrome; microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia; MCSKS; MCOPS14; colobomatous microphthalmia-rhizomelic dysplasia syndrome [-]	A syndromic microphthalmia characterized by microp..[+] A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. [-]
syndromic microphthalmia 5	MCOPS5; syndromic microphthalmia type 5; syndromic.. [+] MCOPS5; syndromic microphthalmia type 5; syndromic microphthalmia/anophthalmia due to OTX2 mutation [-]	A syndromic microphthalmia characterized by unilat..[+] A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. [-]
syndromic microphthalmia 2	microphthalmia cataracts radiculomegaly and septal.. [+] microphthalmia cataracts radiculomegaly and septal heart defects; MCOPS2; MAA2; ANOP2; cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome; oculofaciocardiodental syndrome; OFCD syndrome; syndromic microphthalmia type 2 [-]	A syndromic microphthalmia characterized by dental..[+] A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. [-]
immunodeficiency 31A	MSMD due to partial STAT1 deficiency; MSMD due to .. [+] MSMD due to partial STAT1 deficiency; MSMD due to partial signal transducer and activator of transcription 1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency; autosomal dominant immunodeficiency 31A, mycobacteriosis; IMD31A [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. [-]
immunodeficiency 21	MonoMAC; monocytopenia with susceptibility to infe.. [+] MonoMAC; monocytopenia with susceptibility to infections; monocytopenia and mycobacterial infection syndrome; monocyte-B-natural killer-dendritic cell deficiency syndrome; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid deficiency; GATA2 deficiency; IMD21 [-]	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. [-]
immunodeficiency 50	MSN-related combined immunodeficiency; CID due to .. [+] MSN-related combined immunodeficiency; CID due to Moesin deficiency; combined immunodeficiency due to Moesin deficiency; IMD50; immunodeficiency 50 X linked recessive; X-linked Moesin-associated immunodeficiency [-]	A combined immunodeficiency characterized by profo..[+] A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. [-]
congenital megabladder	MGBL	A bladder disease characterized by a massively dil..[+] A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. [-]
non-syndromic X-linked intellectual disability 104	MRX104; X-linked mental retardation 104	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. [-]
non-syndromic X-linked intellectual disability ARX-related	MRXARX; ARX-related intellectual disability; X-lin.. [+] MRXARX; ARX-related intellectual disability; X-linked mental retardation 29; X-linked mental retardation 29 and others; X-linked mental retardation 32; X-linked mental retardation 33; X-linked mental retardation 38; X-linked mental retardation 43; X-linked mental retardation 52; X-linked mental retardation 54; X-linked mental retardation 76; X-linked mental retardation 87; X-linked mental retardation with or without seizures ARX-related [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. [-]
non-syndromic X-linked intellectual disability 20	MRX20; X-linked mental retardation 20	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. [-]
non-syndromic X-linked intellectual disability 45	MRX45; X-linked mental retardation 45	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. [-]
non-syndromic X-linked intellectual disability 84	MRX84; X-linked mental retardation 84	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. [-]
non-syndromic X-linked intellectual disability 81	MRX81; X-linked mental retardation 81	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. [-]
non-syndromic X-linked intellectual disability 9	MRX44; MRX9; X-linked mental retardation 44; X-lin.. [+] MRX9; MRX44; X-linked mental retardation 44; X-linked mental retardation 9 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. [-]
non-syndromic X-linked intellectual disability 100	MRX100; X-linked mental retardation 100	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. [-]
non-syndromic X-linked intellectual disability 98	MRX98; X-linked mental retardation 98	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. [-]
non-syndromic X-linked intellectual disability 30	MRX30; MRX47; X-linked mental retardation 30; X-li.. [+] MRX47; MRX30; X-linked mental retardation 30; X-linked mental retardation 30/47; X-linked mental retardation 47 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disablity that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. [-]
non-syndromic X-linked intellectual disability 88	MRX88; X-linked mental retardation 88	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. [-]
non-syndromic X-linked intellectual disability 41	MRX41; MRX48; X-linked mental retardation 41; X-li.. [+] MRX48; MRX41; X-linked mental retardation 41; X-linked mental retardation 48 [-]	A non-syndromic X-linked intellectual disability c..[+] A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. [-]
nuclear type mitochondrial complex I deficiency	MC1DN	A mitochondrial complex I deficiency that has_mate..[+] A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. [-]
nuclear type mitochondrial complex I deficiency 25	MC1DN25	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. [-]
nuclear type mitochondrial complex I deficiency 20	mitochondrial complex 1 deficiency due to ACAD9 de.. [+] mitochondrial complex 1 deficiency due to ACAD9 deficiency; MC1DN20; ACAD9 deficiency; Acyl-CoA dehydrogenase 9 deficiency [-]	A nuclear type mitochondrial complex I deficiency ..[+] A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. [-]

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