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Disease	Synonyms	Description
X-linked deafness 4	DFN6; DFNX4; nonsyndromic sensorineural progressiv.. [+] DFNX4; DFN6; nonsyndromic sensorineural progressive deafness 6; X-linked progressive deafness 6 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. [-]
X-linked deafness 3	DFN4; DFNX3; congenital sensorineural X-linked dea.. [+] DFNX3; DFN4; congenital sensorineural X-linked deafness 4 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. [-]
X-linked deafness 2	DFN3; DFNX2; conductive deafness 3 with stapes fix.. [+] DFNX2; DFN3; conductive deafness 3 with stapes fixation; conductive deafness with stapes fixation; Nance deafness; X-linked deafness type 2; X-linked mixed conductive and neurosensory deafness; X-linked mixed conductive and neurosensory hearing loss; X-linked mixed conductive and sensorineural deafness; X-linked mixed conductive and sensorineural hearing loss; X-linked stapes gusher syndrome; mixed deafness with perilymphatic gusher [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. [-]
X-linked deafness 7	DFNX7; X-linked external auditory canal atresia-di.. [+] DFNX7; X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. [-]
X-linked deafness 1	DFN2; DFNX1; X-linked sensorineural congenital dea.. [+] DFNX1; DFN2; X-linked sensorineural congenital deafness 2 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. [-]
X-linked deafness 6	DFNX6	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. [-]
X-linked deafness 5	DFNX5; X-linked auditory neuropathy 1 with periphe.. [+] DFNX5; X-linked auditory neuropathy 1 with peripheral sensory neuropathy; X-linked HSAN with deafness; AUNX1; X-linked auditory neuropathy with peripheral sensory neuropathy type 1 [-]	A neuropathy characterized by childhood onset of a..[+] A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. [-]
Y-linked deafness	DFNY	A nonsyndromic deafness characterized by a Y-lnked..[+] A nonsyndromic deafness characterized by a Y-lnked inheritance mode. [-]
Y-linked deafness 2	DFNY2	A Y-linked deafness characterized by male-limited ..[+] A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. [-]
Y-linked deafness 1	DFNY1	A Y-linked deafness characterized by male-limited ..[+] A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. [-]
46,XX sex reversal	De la Chapelle syndrome; 46,XX testicular disorder.. [+] De la Chapelle syndrome; 46,XX testicular disorder of sex development; 46,XX testicular DSD; SRXX; XX, male syndrome [-]	A gonadal dysgenesis characterized by presentation..[+] A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. [-]
X-linked cardiac valvular dysplasia	Dystrophie valvulaire associee a FLNA; CVD1; EDS 5.. [+] Dystrophie valvulaire associee a FLNA; CVD1; EDS 5; Ehlers-Danlos syndrome, type 5; Filamin A-related X-linked myxomatous valvular dysplasia; FLNA-related valvular dystrophy; FLNA-related X-linked myxomatous valvular dysplasia; XMVD [-]	A heart valve disease characterized by multivalvul..[+] A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. [-]
46,XY sex reversal 3	disorder of sex development, 46,XY, NR5A1-related; .. [+] disorder of sex development, 46,XY, NR5A1-related; 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure; 46,XY sex reversal, partial or complete, NR5A1-related; sex reversal, XY, with or without adrenal failure; SRXY3 [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. [-]
46,XY sex reversal 5	disorder of sex development, 46,XY, CBX2-related; .. [+] disorder of sex development, 46,XY, CBX2-related; 46,XY gonadal dysgenesis, complete, CBX2-related; 46,XY sex reversal, CBX2-related; sex reversal, XY, CBX2-related; SRXY5 [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. [-]
46,XY sex reversal 2	dosage-sensitive sex reversal; DSS; 46,XY sex reve.. [+] DSS; dosage-sensitive sex reversal; 46,XY sex reversal, DAX1-related; 46XY sex reversal 2, dosage-sensitive; SRXY2 [-]	A 46 XY sex reversal characterized by an XY karyot..[+] A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. [-]
immunodeficiency 21	dendritic cell, monocyte, B and NK lymphoid defici.. [+] dendritic cell, monocyte, B and NK lymphoid deficiency; DCML; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; GATA2 deficiency; IMD21; monocyte-B-natural killer-dendritic cell deficiency syndrome; monocytopenia and mycobacterial infection syndrome; monocytopenia with susceptibility to infections; MonoMAC [-]	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 40	DOCK2 deficiency; IMD40	A combined T cell and B cell immunodeficiency char..[+] A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. [-]
severe congenital neutropenia 4	Dursun syndrome; autosomal recessive severe congen.. [+] Dursun syndrome; autosomal recessive severe congenital neutropenia due to G6PC3 deficiency; SCN4; severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome [-]	A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. [-]
terminal osseous dysplasia	digital osseous dysplasia with facial pigmentary d.. [+] digital osseous dysplasia with facial pigmentary defects and multiple frenula; ODPD; ODPF syndrome; terminal osseous dysplasia-pigmentary defects syndrome; TOD; TODPD [-]	A syndrome characterized by skeletal dysplasia of ..[+] A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. [-]
autosomal dominant nonsyndromic deafness 78	DFNA78	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. [-]
autosomal dominant nonsyndromic deafness 79	DFNA79	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. [-]
autosomal recessive nonsyndromic deafness 116	DFNB116	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. [-]
autosomal dominant nonsyndromic deafness 74	DFNA74	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. [-]
autosomal dominant nonsyndromic deafness 75	DFNA75	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. [-]
autosomal dominant nonsyndromic deafness 76	DFNA76	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. [-]
autosomal dominant nonsyndromic deafness 77	DFNA77	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. [-]
thyroid dyshormonogenesis 4	deiodinase deficiency; genetic defect in thyroid h.. [+] deiodinase deficiency; genetic defect in thyroid hormonogenesis 4; iodotyrosine dehalogenase deficiency; TDH4 [-]	A familial thyroid dyshormonogenesis that has_mate..[+] A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 4	developmental and epileptic encephalopathy 77; DEE.. [+] developmental and epileptic encephalopathy 77; DEE77; early infantile epileptic encephalopathy 77; glycosylphosphatidylinositol biosynthesis defect 19; GPIBD19; MCAHS4 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. [-]
Ghosal hematodiaphyseal syndrome	diaphyseal dysplasia-anemia syndrome; Ghosal hemat.. [+] diaphyseal dysplasia-anemia syndrome; Ghosal hematodiaphyseal dysplasia; Ghosal syndrome [-]	A syndrome characterized by increased bone density..[+] A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. [-]
Woodhouse-Sakati syndrome	diabetes-hypogonadism-hearing loss-intellectual di.. [+] diabetes-hypogonadism-hearing loss-intellectual disability syndrome; diabetes-hypogonadism-deafness-intellectual disability syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia [-]	A syndrome characterized by hypogonadism, alopecia..[+] A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. [-]
sarcosinemia	demethylation defect of N-methylglycine; SARCOS; s.. [+] demethylation defect of N-methylglycine; SARCOS; sarcosine dehydrogenase complex deficiency; SARD deficiency; SARDH deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. [-]
Tatton-Brown-Rahman syndrome	DNMT3A overgrowth syndrome; DOS; Tatton-Brown-Rahm.. [+] DOS; DNMT3A overgrowth syndrome; Tatton-Brown-Rahman overgrowth syndrome; TBRS [-]	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. [-]

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