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Disease |
Synonyms |
Description |
Articles |
Phenotypes |
sodium aurothiomalate allergy
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gold sodium thiomalate allergy
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A drug allergy that has_allergic_trigger sodium au.. [+]
A drug allergy that has_allergic_trigger sodium aurothiomalate.
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Sertoli cell-only syndrome
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Germinal Cell Aplasia; DEL CASTILLO SYNDROME
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A male infertility disease characterized by male s.. [+]
A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development.
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aspartylglucosaminuria
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glycosylasparaginase deficiency; GLYCOSYLASPARAGIN..
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glycosylasparaginase deficiency; GLYCOSYLASPARAGINASE DEFICIENCY; ASPARTYLGLUCOSAMINIDASE DEFICIENCY; aspartylglycosaminuria; aspartylglucosaminidase deficiency
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A lysosomal storage disease that is characterized .. [+]
A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins.
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erythrokeratodermia variabilis
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Greither Disease; Erythrokeratodermia Figurata Var..
[+]
Greither Disease; Erythrokeratodermia Figurata Variabilis
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A skin disease that is characterized by areas of s.. [+]
A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis.
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Weill-Marchesani syndrome
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GEMSS syndrome; congenital mesodermal dystrophy; M..
[+]
GEMSS syndrome; congenital mesodermal dystrophy; Mesodermal Dysmorphodystrophy, Congenital; Marchesani-Weill Syndrome; Spherophakia Brachymorphia Syndrome
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A syndrome characterized by short stature, brachyc.. [+]
A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities.
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familial visceral amyloidosis
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German type amyloidosis; AMYLOIDOSIS, FAMILIAL REN..
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German type amyloidosis; AMYLOIDOSIS, FAMILIAL RENAL; OSTERTAG TYPE AMYLOIDOSIS; systemic nonneuropathic amyloidosis
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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.
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Finnish type amyloidosis
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gelsolin amyloidosis; AMYLOIDOSIS, MERETOJA TYPE; ..
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gelsolin amyloidosis; AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; Lattice corneal dystrophy type II
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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.
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arterial calcification of infancy
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generalized arterial calcification of infancy; idi..
[+]
generalized arterial calcification of infancy; idiopathic infantile arterial calcification; infantile arteriosclerosis
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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.
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paraganglioma
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glomus body tumor; chemodectoma
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A pheochromocytoma that arises in extraadrenal sym.. [+]
A pheochromocytoma that arises in extraadrenal sympathetic ganglia.
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1 articles
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X-linked severe combined immunodeficiency
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gamma chain deficiency; SCID-X1; thymic epithelial..
[+]
gamma chain deficiency; SCID-X1; thymic epithelial hypoplasia; XSCID; X-Linked Severe Combined Immunodeficiency
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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.
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immunoglobulin alpha deficiency
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gamma-A-globulin deficiency; IgA deficiency
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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.
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succinic semialdehyde dehydrogenase deficiency
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gamma-hydroxybutyric aciduria; 4-hydroxybutyric ac..
[+]
gamma-hydroxybutyric aciduria; 4-hydroxybutyric aciduria; SSADH
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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.
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Renpenning syndrome
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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
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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.
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1 articles
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18 matches
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3-M syndrome
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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
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A syndrome characterized by dwarfism, facial dysmo.. [+]
A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.
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MASA syndrome
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Gareis-Mason syndrome; hereditary spastic parapleg..
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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
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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.
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Simpson-Golabi-Behmel syndrome type 1
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Golabi-Rosen syndrome; DGSX Golabi-Rosen syndrome; ..
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Golabi-Rosen syndrome; DGSX Golabi-Rosen syndrome; Sara Angers syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome; bulldog syndrome; SGB syndrome
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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.
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multiple acyl-CoA dehydrogenase deficiency
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glutaric aciduria type 2; glutaric acidemia type 2..
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glutaric aciduria type 2; glutaric acidemia type 2; electron transfer flavoprotein deficiency; MAD deficiency; MADD; electron transfer flavoprotein ubiquinone oxidoreductase deficiency
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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.
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SATB2-associated syndrome
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Glass syndrome; 2q32-q33 microdeletion syndrome; 2..
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Glass syndrome; 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; monosomy 2q32q33; chromosome 2q32-q33 deletion syndrome; monosomy 2q32; monosomy 2q32-q33
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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.
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Reis-Bucklers corneal dystrophy
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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
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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.
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chicken egg allergy
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Gallus gallus egg allergy
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An egg allergy triggered by Gallus gallus eggs.
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Atlantic cod allergy
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Gadus morhua fish allergy
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A fish allergy triggered by Gadus morhua.
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dicarboxylic aminoaciduria
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glutamate-aspartate transport defect
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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.
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1 articles
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pigment dispersion syndrome
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glaucoma-related pigment dispersion syndrome; pigm..
[+]
glaucoma-related pigment dispersion syndrome; pigment-dispersion type glaucoma
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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 glaucoma.
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epidermolysis bullosa simplex Dowling-Meara type
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generalized severe epidermolysis bullosa simplex; ..
[+]
generalized severe epidermolysis bullosa simplex; EBS-gen sev; EBSDM; epidermolysis bullosa simplex, herpetiformis; epidermolysis bullosa herpetiformis Dowling-Meara type
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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.
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junctional epidermolysis bullosa non-Herlitz type
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generalized junctional epidermolysis bullosa, non-..
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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
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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.
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Pendred Syndrome
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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
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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.
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4 articles
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corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
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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
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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.
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isolated growth hormone deficiency type III
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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
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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.
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dystonia, DOPA-responsive
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GTPCH1-deficient DRD; GTPCH1-deficient dopa-respon..
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GTPCH1-deficient DRD; GTPCH1-deficient dopa-responsive dystonia; Autosomal dominant Segawa syndrome; DOPA-RESPONSIVE DYSTONIA, AUTOSOMAL DOMINANT; DYSTONIA, DOPA-RESPONSIVE, AUTOSOMAL DOMINANT; DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION; DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION; Hereditary progressive dystonia with marked diurnal fluctuation; HPD with marked diurnal fluctuation
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A dystonia characterized by generalized dystonia, .. [+]
A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13.
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distal myopathy 1
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Gowers disease; Distal myopathy type 1; Laing dist..
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Gowers disease; Distal myopathy type 1; Laing distal myopathy; Laing early-onset distal myopathy; MPD1
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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.
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intrahepatic cholestasis of pregnancy
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gravidic intrahepatic cholestasis; ICP; pregnancy ..
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gravidic intrahepatic cholestasis; ICP; pregnancy related cholestasis; recurrent intrahepatic cholestasis of pregnancy
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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.
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congenital disorder of glycosylation type IIb
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glucosidase I deficiency; CDG IIb; CDG2B; CDGIIb
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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.
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hyperphosphatasia with impaired intellectual development syndrome 5
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GPIBD11; glycosylphosphatidylinositol biosynthesis..
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GPIBD11; glycosylphosphatidylinositol biosynthesis defect 11; HPMRS5; hyperphosphatasia with mental retardation syndrome 5
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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.
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hyperphosphatasia with impaired intellectual development syndrome 1
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GPIBD2; glycosylphosphatidylinositol biosynthesis ..
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GPIBD2; glycosylphosphatidylinositol biosynthesis defect 2; HPMRS1; hyperphosphatasia with mental retardation syndrome 1
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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.
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hyperphosphatasia with impaired intellectual development syndrome 2
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GPIBD6; glycosylphosphatidylinositol biosynthesis ..
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GPIBD6; glycosylphosphatidylinositol biosynthesis defect 6; HPMRS2; hyperphosphatasia with mental retardation syndrome 2
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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.
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hyperphosphatasia with impaired intellectual development syndrome 3
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GPIBD8; glycosylphosphatidylinositol biosynthesis ..
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GPIBD8; glycosylphosphatidylinositol biosynthesis defect 8; HPMRS3; hyperphosphatasia with mental retardation syndrome 3
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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.
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hyperphosphatasia with impaired intellectual development syndrome 4
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GPIBD62; glycosylphosphatidylinositol biosynthesis..
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GPIBD62; glycosylphosphatidylinositol biosynthesis defect 62; HPMRS6; hyperphosphatasia with mental retardation syndrome 6
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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.
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hyperphosphatasia with impaired intellectual development syndrome 6
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GPIBD40; glycosylphosphatidylinositol biosynthesis..
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GPIBD40; glycosylphosphatidylinositol biosynthesis defect 40; HPMRS4; hyperphosphatasia with mental retardation syndrome 4
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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.
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paroxysmal nonkinesigenic dyskinesia 3
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generalized epilepsy and paroxysmal dyskinesia
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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.
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peeling skin syndrome 1
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generalized inflammatory peeling skin syndrome; in..
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generalized inflammatory peeling skin syndrome; inflammatory peeling skin syndrome; peeling skin syndrome type B; PSS1
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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.
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neurodevelopmental disorder with spastic paraplegia and microcephaly
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GPT2 deficiency; glutamate pyruvate transaminase 2..
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GPT2 deficiency; glutamate pyruvate transaminase 2 deficiency; autosomal recessive mental retardation 49; MRT49; NEDSPM
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An amino acid metabolic disorder characterized del.. [+]
An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common.
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congenital glutamine deficiency
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GLND; congenital systemic glutamine synthase defic..
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GLND; congenital systemic glutamine synthase deficiency
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An amino acid metabolic disorder characterized by .. [+]
An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3.
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acromesomelic dysplasia, Grebe type
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GREBE CHONDRODYSPLASIA; grebe chondrodysplasia; ac..
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grebe chondrodysplasia; GREBE CHONDRODYSPLASIA; acromesomelic dysplasia-2A
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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.
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multiple congenital anomalies-hypotonia-seizures syndrome 2
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glycosylphosphatidylinositol biosynthesis defect 4..
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glycosylphosphatidylinositol biosynthesis defect 4; developmental and epileptic encephalopathy 20; early infantile epileptic encephalopathy 20
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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.
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Marinesco-Sjogren syndrome
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Garland-Moorhouse syndrome; Marinesco-Garland synd..
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Garland-Moorhouse syndrome; Marinesco-Garland syndrome; hereditary oligophrenic cerebello-lental degeneration; Oligophrenic cerebellolenticular degeneration
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A syndrome characterized by congenital cataracts, .. [+]
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
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developmental and epileptic encephalopathy 55
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GPIBD14; glycosylphosphatidylinositol biosynthesis..
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GPIBD14; glycosylphosphatidylinositol biosynthesis defect 14; DEE55; early infantile epileptic encephalopathy 55
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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.
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Tn polyagglutination syndrome
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galactosyltransferase deficiency
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A hematopoietic system disease that is characteriz.. [+]
A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.
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intellectual developmental disorder with cardiac arrhythmia
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GNB5-related intellectual disability-cardiac arrhy..
[+]
GNB5-related intellectual disability-cardiac arrhythmia syndrome
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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.
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auto-brewery syndrome
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gut fermentation syndrome; auto brewery syndrome
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An acquired metabolic disease that is characterize.. [+]
An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication.
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cystathioninuria
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gamma-cystathionase deficiency; cystathionase defi..
[+]
gamma-cystathionase deficiency; cystathionase deficiency; cystathione gamma-lyase deficiency syndrome
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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.
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