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Disease	Synonyms	Description
propionic acidemia	GLYCINEMIA, KETOTIC; ketotic glycinemia; KETOTIC H.. [+] GLYCINEMIA, KETOTIC; ketotic glycinemia; KETOTIC HYPERGLYCINEMIA; ketotic II glycinemia; propionic aciduria; propionyl-CoA carboxylase deficiency [-]	An organic acidemia that involes a nonfunctional p..[+] An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of aminio acids and fats into sugar for energy. [-]
sodium aurothiomalate allergy	gold sodium thiomalate allergy	A drug allergy that has_allergic_trigger sodium au..[+] A drug allergy that has_allergic_trigger sodium aurothiomalate. [-]
Sertoli cell-only syndrome	Germinal Cell Aplasia; DEL CASTILLO SYNDROME	n_a
aspartylglucosaminuria	GLYCOSYLASPARAGINASE DEFICIENCY; ASPARTYLGLUCOSAMI.. [+] GLYCOSYLASPARAGINASE DEFICIENCY; ASPARTYLGLUCOSAMINIDASE DEFICIENCY; aspartylglycosaminuria [-]	n_a
erythrokeratodermia variabilis	Greither Disease; Erythrokeratodermia Figurata Var.. [+] Greither Disease; Erythrokeratodermia Figurata Variabilis [-]	n_a
Weill-Marchesani syndrome	GEMSS syndrome; congenital mesodermal dystrophy; M.. [+] GEMSS syndrome; congenital mesodermal dystrophy; Marchesani-Weill Syndrome; Mesodermal Dysmorphodystrophy, Congenital; Spherophakia Brachymorphia Syndrome [-]	An autosomal genetic disease characterized by shor..[+] An autosomal genetic disease characterized by short stature, bachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [-]
familial visceral amyloidosis	German type amyloidosis; AMYLOIDOSIS, FAMILIAL REN.. [+] German type amyloidosis; AMYLOIDOSIS, FAMILIAL RENAL; OSTERTAG TYPE AMYLOIDOSIS; systemic nonneuropathic amyloidosis [-]	An amyloidosis that is characterized by the abnorm..[+] An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. [-]
arterial calcification of infancy	generalized arterial calcification of infancy; idi.. [+] generalized arterial calcification of infancy; idiopathic infantile arterial calcification; infantile arteriosclerosis [-]	A vascular disease that is characterized by genera..[+] A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. [-]
immunoglobulin alpha deficiency	gamma-A-globulin deficiency; IgA deficiency	A B cell deficiency that is an autosomal recessive..[+] A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. [-]
succinic semialdehyde dehydrogenase deficiency	gamma-hydroxybutyric aciduria; 4-hydroxybutyric ac.. [+] gamma-hydroxybutyric aciduria; 4-hydroxybutyric aciduria; SSADH [-]	A gamma-amino butyric acid metabolism disorder tha..[+] A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. [-]
Renpenning syndrome	Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked.. [+] Golabi-Ito-Hall syndrome; Sutherland-Haan X-linked mental retardation syndrome; syndromic X-linked mental retardation 8; X-linked intellectual disability due to PQBP1 mutations; X-linked intellectual disability, Renpenning type; X-linked mental retardation Renpenning type; X-linked mental retardation with spastic diplegia [-]	An intellectual disability that is characterized b..[+] An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. [-]
3-M syndrome	gloomy face syndrome; dolichospondylic dysplasia; .. [+] gloomy face syndrome; dolichospondylic dysplasia; Le Merrer syndrome; Miller-McKusick-Malvaux syndrome; three M syndrome; Yakut short stature syndrome [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
MASA syndrome	Gareis-Mason syndrome; CRASH syndrome; hereditary .. [+] Gareis-Mason syndrome; CRASH syndrome; hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked corpus callosum agenesis; X-linked spastic paraplegia 1 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. [-]
Simpson-Golabi-Behmel syndrome type 1	Golabi-Rosen syndrome; bulldog syndrome; DGSX Gola.. [+] Golabi-Rosen syndrome; bulldog syndrome; DGSX Golabi-Rosen syndrome; Sara Angers syndrome; SGB syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome [-]	A syndrome characterized by pre- and postnatal ove..[+] A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. [-]
multiple acyl-CoA dehydrogenase deficiency	glutaric aciduria type 2; glutaric acidemia type 2.. [+] glutaric aciduria type 2; glutaric acidemia type 2; electron transfer flavoprotein deficiency; electron transfer flavoprotein ubiquinone oxidoreductase deficiency; MAD deficiency; MADD [-]	An inherited metabolic disorder characterized by t..[+] An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has material basis in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. [-]
chromosome 2q32-q33 deletion syndrome	Glass syndrome; 2q32-q33 microdeletion syndrome; 2.. [+] Glass syndrome; 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33 [-]	n_a
Reis-Bucklers corneal dystrophy	granular corneal dystrophy type III; geographic co.. [+] granular corneal dystrophy type III; geographic corneal dystrophy; anterior limiting membrane dystrophy type I; corneal dystrophy of Bowman layer type I; RBCD [-]	n_a
chicken egg allergy	Gallus gallus egg allergy	An egg allergy triggered by Gallus gallus eggs.
Atlantic cod allergy	Gadus morhua fish allergy	A fish allergy triggered by Gadus morhua.
dicarboxylic aminoaciduria	glutamate-aspartate transport defect	n_a
pigment dispersion syndrome	glaucoma-related pigment dispersion syndrome; pigm.. [+] glaucoma-related pigment dispersion syndrome; pigment-dispersion type glaucoma [-]	An eye disease characterized by slit-like depigmen..[+] An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop gluacoma. [-]
epidermolysis bullosa simplex Dowling-Meara type	generalized severe epidermolysis bullosa simplex; .. [+] generalized severe epidermolysis bullosa simplex; EBS-gen sev; EBSDM; epidermolysis bullosa herpetiformis Dowling-Meara type; epidermolysis bullosa simplex, herpetiformis [-]	An epidermolysis bullosa simplex characterized by ..[+] An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. [-]
junctional epidermolysis bullosa non-Herlitz type	generalized junctional epidermolysis bullosa, non-.. [+] generalized junctional epidermolysis bullosa, non-Herlitz type; generalized atrophic benign epidermolysis bullosa; GABEB; JEB-nH gen; JEN-nH; junctional epidermolysis bullosa generalisata mitis; junctional epidermolysis bullosa, Disentis type [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. [-]
Pendred Syndrome	goiter-deafness syndrome; genetic defect in thyroi.. [+] goiter-deafness syndrome; genetic defect in thyroid hormonogenesis 2B; congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; TDH2B; thyroid dyshormonogenesis 2B [-]	An autosomal recessive disease characterized by bi..[+] An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. [-]
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	Graham-Cox syndrome; corpus callosum, agenesis of,.. [+] Graham-Cox syndrome; corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia; mental retardation, X-linked, syndromic 28; MRXS28 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. [-]
isolated growth hormone deficiency type III	growth hormone deficiency with hypogammaglobulinem.. [+] growth hormone deficiency with hypogammaglobulinemia; congenital IGHD type III; congenital isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; Fleisher syndrome; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked hypogammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has material_basis_in mutation in the BTK gene on chromosome Xq22.1. [-]
hyperphosphatasia with impaired intellectual development syndrome 3	GPIBD8; glycosylphosphatidylinositol biosynthesis .. [+] GPIBD8; glycosylphosphatidylinositol biosynthesis defect 8; HPMRS3; hyperphosphatasia with mental retardation syndrome 3 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. [-]
hyperphosphatasia with impaired intellectual development syndrome 6	GPIBD40; glycosylphosphatidylinositol biosynthesis.. [+] GPIBD40; glycosylphosphatidylinositol biosynthesis defect 40; HPMRS4; hyperphosphatasia with mental retardation syndrome 4 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. [-]
acromesomelic dysplasia, Grebe type	GREBE CHONDRODYSPLASIA	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. [-]
Marinesco-Sjogren syndrome	Garland-Moorhouse syndrome; hereditary oligophreni.. [+] Garland-Moorhouse syndrome; hereditary oligophrenic cerebello-lental degeneration; Marinesco-Garland syndrome [-]	An autosomal recessive disease characterized by co..[+] An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
intellectual developmental disorder with cardiac arrhythmia	GNB5-related intellectual disability-cardiac arrhy.. [+] GNB5-related intellectual disability-cardiac arrhythmia syndrome [-]	A syndrome that is characterized by delayed psycho..[+] A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. [-]
cystathioninuria	gamma-cystathionase deficiency; cystathionase defi.. [+] gamma-cystathionase deficiency; cystathionase deficiency; cystathione gamma-lyase deficiency syndrome [-]	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. [-]
autosomal recessive limb-girdle muscular dystrophy type 2C	gamma-sarcoglycanopathy; autosomal recessive Duche.. [+] gamma-sarcoglycanopathy; autosomal recessive Duchenne-like muscular dystrophy type 1; deficiency of sarcoglycan gamma; DMDA1; LGMD2C; limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency; Maghrebian myopathy; muscular dystrophy, limb-girdle, type 2C; SCARMD; severe childhood autosomal recessive muscular dystrophy North African type [-]	An autosomal recessive limb-girdle muscular dystro..[+] An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. [-]
hereditary spastic paraplegia 26	GM2 synthase deficiency; autosomal recessive spast.. [+] GM2 synthase deficiency; autosomal recessive spastic paraplegia 26; autosomal recessive spastic paraplegia type 26; SPG26 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. [-]
rhizomelic chondrodysplasia punctata type 2	Gnpat Deficiency; Glyceronephosphate O-Acyltransfe.. [+] Gnpat Deficiency; Glyceronephosphate O-Acyltransferase Deficiency; Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency; Dhapat Deficiency; Dihydroxyacetonephosphate Acyltransferase 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 osteopetrosis 3	Guibaud-Vainsel syndrome; autosomal recessive oste.. [+] Guibaud-Vainsel syndrome; autosomal recessive osteopetrosis 3 with renal tubular acidosis; carbonic anhydrase II deficiency; marble brain disease; 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. [-]
platelet-type bleeding disorder 9	glycoprotein Ia deficiency; GP Ia deficiency; BDPL.. [+] GP Ia deficiency; glycoprotein Ia deficiency; BDPLT9; collagen platelet receptor deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. [-]
platelet-type bleeding disorder 11	glycoprotein VI deficiency; GP VI deficiency; BDPL.. [+] GP VI deficiency; glycoprotein VI deficiency; BDPLT11 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. [-]
congenital generalized lipodystrophy type 4	generalized congenital lipodystrophy with myopathy.. [+] generalized congenital lipodystrophy with myopathy; generalized congenital lipodystrophy type 4; GCL4; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; Brunzell syndrome AGPAT2-related; BSCL4; CGL4 [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of PTRF on chromosome 17q21.2. [-]
Castleman disease	giant lymph node hyperplasia; angiofollicular lymp.. [+] giant lymph node hyperplasia; angiofollicular lymph hyperplasia; angiofollicular lymph node hyperplasia; lymphoid hamartoma [-]	A lymphoproliferative syndrome characterized by on..[+] A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. [-]
large congenital melanocytic nevus	Giant pigmented hairy nevus; GMN; Giant congenital.. [+] GMN; Giant pigmented hairy nevus; Giant congenital melanocytic nevus; Congenital pigmented nevus; LCMN [-]	A skin disease characterized by the presence at bi..[+] A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. [-]
hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	glomerulonephritis with sparse hair and telangiect.. [+] glomerulonephritis with sparse hair and telangiectases; HLT-renal defect syndrome; HLTRS; hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome; telangiectatic membranoproliferative glomerulonephritis [-]	A syndrome characterized by onset in childhood of ..[+] A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. [-]
mucopolysaccharidosis IVA	GALNS deficiency; Morquio A disease; Morquio syndr.. [+] GALNS deficiency; Morquio A disease; Morquio syndrome A; MPS IVA; MPS4A [-]	A mucopolysaccharidosis IV characterized by intrac..[+] A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. [-]
mucopolysaccharidosis type IIID	GNS deficiency; MPS IIID; MPS3D; Mucopolysaccharid.. [+] GNS deficiency; MPS IIID; MPS3D; Mucopolysaccharidosis type 3D; N-acetylglucosamine-6-sulfatase deficiency; Sanfilippo syndrome D; Sanfilippo syndrome type D [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
classic galactosemia	galactosemia type 1; GALT deficiency; galactose-1-.. [+] GALT deficiency; galactosemia type 1; galactose-1-phosphate uridyltransferase deficiency [-]	A galactosemia that has_material_basis_in homozygo..[+] A galactosemia that has_material_basis_in homozygous or compund heterozygous mutation in the GALT gene on chromosome 9p13.3. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	genital anomaly with cardiomyopathy; cardiogenital.. [+] genital anomaly with cardiomyopathy; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with premature ovarian failure; Malouf syndrome; 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. [-]
distal arthrogryposis type 3	Gordon syndrome; camptodactyly-cleft palate-clubfo.. [+] Gordon syndrome; camptodactyly-cleft palate-clubfoot syndrome; DA3; distal arthrogryposis multiplex congenita type IIA [-]	A distal arthrogryposis characterized by distal ar..[+] A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. [-]
primary hyperoxaluria type 1	glycolic aciduria; alanine-glyoxylate aminotransfe.. [+] glycolic aciduria; alanine-glyoxylate aminotransferase deficiency; hepatic AGT deficiency; HP1; oxalosis I; peroxisomal alanine-glyoxylate aminotransferase deficiency; serine pyruvate aminotransferase deficiency [-]	A primary hyperoxaluria characterized by failure t..[+] A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. [-]
X-linked thrombocytopenia with beta-thalassemia	GATA1-related X-linked cytopenia; beta-thalassemia.. [+] GATA1-related X-linked cytopenia; beta-thalassemia-X-linked thrombocytopenia syndrome; thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis; XLTT [-]	A hematopoietic system disease characterized by va..[+] A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. [-]
immunodeficiency 21	GATA2 deficiency; combined immunodeficiency with s.. [+] GATA2 deficiency; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections; DCML; dendritic cell, monocyte, B and NK lymphoid 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. [-]

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