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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
Finnish type amyloidosis	gelsolin amyloidosis; AMYLOIDOSIS, MERETOJA TYPE; .. [+] gelsolin amyloidosis; AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; Lattice corneal dystrophy type II [-]	An amyloidosis that is characterized by abnormal d..[+] An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. [-]
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. [-]
paraganglioma	glomus body tumor; chemodectoma	A pheochromocytoma that arises in extraadrenal sym..[+] A pheochromocytoma that arises in extraadrenal sympathetic ganglia. [-]	1 articles
X-linked severe combined immunodeficiency	gamma chain deficiency; SCID-X1; thymic epithelial.. [+] gamma chain deficiency; SCID-X1; thymic epithelial hypoplasia; XSCID; X-Linked Severe Combined Immunodeficiency [-]	A severe combined immunodeficiency that is a X-lin..[+] A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. [-]
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. [-]	1 articles	18 matches
3-M syndrome	gloomy face syndrome; Le Merrer syndrome; three M .. [+] gloomy face syndrome; Le Merrer syndrome; three M syndrome; Yakut short stature syndrome; Miller-McKusick-Malvaux syndrome; dolichospondylic dysplasia [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
MASA syndrome	Gareis-Mason syndrome; hereditary spastic parapleg.. [+] Gareis-Mason syndrome; hereditary spastic paraplegia 1; L1 syndrome; SPG1; X-linked complicated hereditary spastic paraplegia type 1; X-linked spastic paraplegia 1; X-linked corpus callosum agenesis; CRASH syndrome [-]	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; DGSX Golabi-Rosen syndrome; .. [+] Golabi-Rosen syndrome; DGSX Golabi-Rosen syndrome; Sara Angers syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome; bulldog syndrome; SGB 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; MAD deficiency; MADD; electron transfer flavoprotein ubiquinone oxidoreductase deficiency [-]	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. [-]
SATB2-associated syndrome	Glass syndrome; 2q32-q33 microdeletion syndrome; 2.. [+] Glass syndrome; 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; monosomy 2q32q33; chromosome 2q32-q33 deletion syndrome; monosomy 2q32; monosomy 2q32-q33 [-]	A syndrome that has_material_basis_in genetic chan..[+] A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. [-]
Reis-Bucklers corneal dystrophy	geographic corneal dystrophy; granular corneal dys.. [+] geographic corneal dystrophy; granular corneal dystrophy type III; anterior limiting membrane dystrophy type I; RBCD; corneal dystrophy of Bowman layer type I [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. [-]
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	An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. [-]	1 articles
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 simplex, herpetiformis; epidermolysis bullosa herpetiformis Dowling-Meara type [-]	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	genetic defect in thyroid hormonogenesis 2B; goite.. [+] genetic defect in thyroid hormonogenesis 2B; goiter-deafness syndrome; congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; TDH2B; thyroid dyshormonogenesis 2B [-]	A syndrome characterized by bilateral prelingual s..[+] A syndrome 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. [-]	4 articles
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 isolated GH deficiency type III; congenital isolated growth hormone deficiency type III; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency; congenital IGHD type III; Fleisher syndrome; X-linked hypogammaglobulinemia and 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. [-]
distal myopathy 1	Gowers disease; Distal myopathy type 1; Laing dist.. [+] Gowers disease; Distal myopathy type 1; Laing distal myopathy; Laing early-onset distal myopathy; MPD1 [-]	A distal myopathy that is characterized by autosom..[+] A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. [-]
intrahepatic cholestasis of pregnancy	gravidic intrahepatic cholestasis; ICP; pregnancy .. [+] gravidic intrahepatic cholestasis; ICP; pregnancy related cholestasis; recurrent intrahepatic cholestasis of pregnancy [-]	An intrahepatic cholestasis characterized by rever..[+] An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. [-]
congenital disorder of glycosylation type IIb	glucosidase I deficiency; CDG IIb; CDG2B; CDGIIb	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. [-]
hyperphosphatasia with impaired intellectual development syndrome 5	GPIBD11; glycosylphosphatidylinositol biosynthesis.. [+] GPIBD11; glycosylphosphatidylinositol biosynthesis defect 11; HPMRS5; hyperphosphatasia with mental retardation syndrome 5 [-]	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 PIGW gene on chromosome 17q12. [-]
hyperphosphatasia with impaired intellectual development syndrome 1	GPIBD2; glycosylphosphatidylinositol biosynthesis .. [+] GPIBD2; glycosylphosphatidylinositol biosynthesis defect 2; HPMRS1; hyperphosphatasia with mental retardation syndrome 1 [-]	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 PIGV gene on chromosome 1p36. [-]
hyperphosphatasia with impaired intellectual development syndrome 2	GPIBD6; glycosylphosphatidylinositol biosynthesis .. [+] GPIBD6; glycosylphosphatidylinositol biosynthesis defect 6; HPMRS2; hyperphosphatasia with mental retardation syndrome 2 [-]	A hyperphosphatasia with impaired intellectual dev..[+] A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. [-]
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 4	GPIBD62; glycosylphosphatidylinositol biosynthesis.. [+] GPIBD62; glycosylphosphatidylinositol biosynthesis defect 62; HPMRS6; hyperphosphatasia with mental retardation syndrome 6 [-]	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 PGAP3 gene on chromosome 17q12. [-]
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. [-]
paroxysmal nonkinesigenic dyskinesia 3	generalized epilepsy and paroxysmal dyskinesia	A dystonia characterized by epilepsy and attacks o..[+] A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. [-]
peeling skin syndrome 1	generalized inflammatory peeling skin syndrome; in.. [+] generalized inflammatory peeling skin syndrome; inflammatory peeling skin syndrome; peeling skin syndrome type B; PSS1 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. [-]
acromesomelic dysplasia, Grebe type	GREBE CHONDRODYSPLASIA; grebe chondrodysplasia; ac.. [+] grebe chondrodysplasia; GREBE CHONDRODYSPLASIA; acromesomelic dysplasia-2A [-]	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. [-]
multiple congenital anomalies-hypotonia-seizures syndrome 2	glycosylphosphatidylinositol biosynthesis defect 4.. [+] glycosylphosphatidylinositol biosynthesis defect 4; developmental and epileptic encephalopathy 20; early infantile epileptic encephalopathy 20 [-]	A multiple congenital anomalies-hypotonia-seizures..[+] A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. [-]
Marinesco-Sjogren syndrome	Garland-Moorhouse syndrome; Marinesco-Garland synd.. [+] Garland-Moorhouse syndrome; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration; Oligophrenic cerebellolenticular degeneration [-]	A syndrome characterized by congenital cataracts, ..[+] A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. [-]
developmental and epileptic encephalopathy 55	GPIBD14; glycosylphosphatidylinositol biosynthesis.. [+] GPIBD14; glycosylphosphatidylinositol biosynthesis defect 14; DEE55; early infantile epileptic encephalopathy 55 [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. [-]
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; muscular dystrophy, limb-girdle, type 2C; SCARMD; severe childhood autosomal recessive muscular dystrophy North African type; Maghrebian myopathy [-]	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; Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency; 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; osteopetrosis with renal tubular acidosis; OPTB3 [-]	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 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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; generalised congenital lipodystrophy with myopathy; generalised congenital lipodystrophy type 4; generalized congenital lipodystrophy type 4; GCL4; Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy; BSCL4; CGL4; Brunzell syndrome AGPAT2-related; congenital generalised lipodystrophy type 4 [-]	A congenital generalized lipodystrophy that has_ma..[+] A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. [-]
spermatogenic failure 9	globozoospermia; male infertility due to globozoos.. [+] globozoospermia; male infertility due to globozoospermia; male infertility due to round-headed spermatozoa [-]	A male infertility characterized by round-headed s..[+] A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. [-]
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. [-]
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	Guam disease; Amyotrophic lateral sclerosis-parkin.. [+] Guam disease; Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome; amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam; parkinsonism-dementia-ALS complex; PDALS; ALS-PDC; Lytico-Bodig disease [-]	A neurodegenerative disease characterized by chron..[+] A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. [-]

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