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Disease	Synonyms	Description
hereditary spastic paraplegia 17	distal hereditary motor neuropathy type 5B; dHMN5B.. [+] distal hereditary motor neuropathy type 5B; dHMN5B; 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 spinal muscular atrophy 2	DSMA2; distal hereditary motor neuropathy Jerash t.. [+] DSMA2; distal hereditary motor neuropathy Jerash type; dHMNJ; 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. [-]
tibial muscular dystrophy	distal titinopathy; Finnish tibial muscular dystro.. [+] distal titinopathy; Finnish tibial muscular dystrophy; Tardive tibial muscular dystrophy; TMD; Udd myopathy; Udd type distal myopathy [-]	A distal muscular dystrophy characterized by autos..[+] A distal muscular dystrophy 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 TTN gene 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	DRD due to SRD; dopa-responsive dystonia due to se.. [+] DRD due to SRD; dopa-responsive dystonia due to sepiapterin reductase deficiency; 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. [-]
transient bullous dermolysis of the newborn	DEB-BDN; DEB, bullous dermolysis of the newborn	An epidermolysis bullosa dystrophica characterized..[+] An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. [-]
Marshall syndrome	deafness, myopia, cataract, saddle nose-Marshall t.. [+] deafness, myopia, cataract, saddle nose-Marshall type; MRSHS [-]	An ectodermal dysplasia characterized by hypoplasi..[+] An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. [-]
spondylometaphyseal dysplasia Kozlowski type	dysmorphism arthrogryposis skeletal maturation adv.. [+] dysmorphism arthrogryposis skeletal maturation advanced; Jequier Kozlowski skeletal dysplasia; Jequier-Kozlowski syndrome; skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type [-]	A spondylometaphyseal dysplasia characterized by v..[+] A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
combined D-2- and L-2-hydroxyglutaric aciduria	D,L-2-hydroxyglutaric aciduria; D,L-2-hydroxygluta.. [+] D,L-2-hydroxyglutaric aciduria; D,L-2-hydroxyglutaric acidemia; D,L-2-HGA; combined D,L-2-hydroxyglutaric aciduria; combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia; combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria [-]	A 2-hydroxyglutaric aciduria characterized by neon..[+] A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. [-]
autosomal recessive nonsyndromic deafness 113	DFNB113; autosomal recessive deafness 113	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. [-]
autosomal recessive nonsyndromic deafness 109	DFNB109; autosomal recessive deafness 109	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. [-]
autosomal recessive nonsyndromic deafness 114	DFNB114; autosomal recessive deafness 114	An autosomal recessive nonsyndromic deafness chara..[+] An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. [-]
congenital lactase deficiency	disaccharide intolerance II; CLD; congenital alact.. [+] disaccharide intolerance II; CLD; congenital alactasia; congenital alactasia syndrome; congenital lactose intolerance; congenital lactose malabsorption [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. [-]
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. [-]
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. [-]
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. [-]
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. [-]
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 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. [-]
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. [-]
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. [-]

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