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Disease	Synonyms	Description	Articles
distal 10q deletion syndrome	chromosome 10q26 deletion syndrome; monosomy 10qte.. [+] chromosome 10q26 deletion syndrome; monosomy 10qter; telomeric deletion 10q; terminal chromosome 10q26 deletion syndrome; distal monosomy 10q [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. [-]
NFIA-related disorder	Chromosome 1, Monosomy 1p32; chromosome 1p32-p31 d.. [+] Chromosome 1, Monosomy 1p32; chromosome 1p32-p31 deletion syndrome; 1p31p32 microdeletion syndrome; brain malformations with or without urinary tract defects [-]	A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. [-]
3p deletion syndrome	chromosome 3pter-P25 deletion syndrome; distal mon.. [+] chromosome 3pter-P25 deletion syndrome; distal monosomy 3p [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. [-]
SATB2-associated syndrome	chromosome 2q32-q33 deletion syndrome; 2q32-q33 mi.. [+] chromosome 2q32-q33 deletion syndrome; 2q32-q33 microdeletion syndrome; 2q32q33 microdeletion syndrome; Glass syndrome; monosomy 2q32q33; 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. [-]
granular corneal dystrophy 2	combined granular-lattice corneal dystrophy; corne.. [+] combined granular-lattice corneal dystrophy; corneal dystrophy, Avellino type; CGD2; avellino corneal dystrophy; granular corneal dystrophy type 2 [-]	An corneal granular dystrophy that is characterize..[+] An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. [-]
epithelial basement membrane dystrophy	Cogan corneal dystrophy; EBMD; microcystic corneal.. [+] Cogan corneal dystrophy; EBMD; microcystic corneal dystrophy [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. [-]
gelatinous drop-like corneal dystrophy	corneal amyloidosis; primary familial amyloidosis .. [+] corneal amyloidosis; primary familial amyloidosis of the cornea; GDCD; subepithelial amyloidosis of the cornea [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. [-]
posterior amorphous corneal dystrophy	chromosome 12q21.33 deletion syndrome; PACD	A stromal dystrophy that is characterized by irreg..[+] A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. [-]
Reis-Bucklers corneal dystrophy	corneal dystrophy of Bowman layer type I; anterior.. [+] corneal dystrophy of Bowman layer type I; anterior limiting membrane dystrophy type I; granular corneal dystrophy type III; RBCD; geographic corneal dystrophy [-]	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. [-]
Thiel-Behnke corneal dystrophy	corneal dystrophy of Bowman layer type II; corneal.. [+] corneal dystrophy of Bowman layer type II; corneal dystrophy honeycomb-shaped; Waardenburg-Jonker corneal dystrophy; anterior limiting membrane dystrophy type II; TBCD [-]	An epithelial-stromal TGFBI dystrophy that is char..[+] An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of 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. [-]
Schnyder corneal dystrophy	crystalline stromal dystrophy; corneal dystrophy c.. [+] crystalline stromal dystrophy; corneal dystrophy crystalline of Schnyder; Schnyder crystalline corneal dystrophy; SCCD; hereditary crystalline stromal dystrophy of Schnyder [-]	A stromal dystrophy that is characterized by abnor..[+] A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. [-]
familial erythrocytosis 2	Chuvash type polycythemia; Chuvash polycythemia; C.. [+] Chuvash polycythemia; Chuvash type polycythemia; Chuvash erythromatosis; familial erythrocytosis 2; autosomal recessive benign erythrocytosis; ECYT2 [-]	A primary polycythemia that has_material_basis_in ..[+] A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. [-]
myoclonic-atonic epilepsy	childhood onset epileptic encephalopathy; EEOC	An idiopathic generalized epilepsy characterized b..[+] An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. [-]	4 articles
orange allery	Citrus sinensis fruit allergy	A fruit allergy triggered by Citrus sinensis plant..[+] A fruit allergy triggered by Citrus sinensis plant fruit food product. [-]
melon allergy	Cucumis melo fruit allergy	A fruit allergy triggered by Cucumis melo plant fr..[+] A fruit allergy triggered by Cucumis melo plant fruit food product. [-]
goat milk allergy	Capra hircus milk allergy	A milk allergy triggered by Capra hircus milk.
Ritscher-Schinzel syndrome	craniocerebellocardiac dysplasia; CCC dysplasia; 3.. [+] CCC dysplasia; craniocerebellocardiac dysplasia; 3C syndrome [-]	A syndrome characterized by craniofacial (prominen..[+] A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. [-]
hypertrichotic osteochondrodysplasia Cantu type	Cantu syndrome	An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. [-]
Yunis-Varon syndrome	cleidocranial dysplasia with micrognathia, absent .. [+] cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia; cleidocranial dysplasia-micrognathia-absent thumbs syndrome [-]	A syndrome characterized by skeletal defects, incl..[+] A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. [-]
microcephalic osteodysplastic primordial dwarfism type I	cephaloskeletal dysplasia; brachymelic primordial .. [+] cephaloskeletal dysplasia; brachymelic primordial dwarfism; low-birth-weight dwarfism with skeletal dysplasia; osteodysplastic primordial dwarfism type I; Taybi-Linder syndrome [-]	An osteochondrodysplasia that is a form of microce..[+] An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. [-]	1 articles
fetal encasement syndrome	cocoon syndrome; fetal encasement syndrome	A syndrome that has_material_basis_in homozygous m..[+] A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. [-]
anterior segment dysgenesis	corneal opacification and other ocular anomalies; .. [+] corneal opacification and other ocular anomalies; sclerocornea with other ocular anomalies; anterior segment developmental anomaly [-]	An eye disease that is characterized by iris hypop..[+] An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. [-]
arteriovenous malformations of the brain	cerebral arteriovenous malformation; intracranial .. [+] cerebral arteriovenous malformation; intracranial arteriovenous malformation [-]	A central nervous system benign neoplasm that deri..[+] A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. [-]
hyperekplexia	congenital stiff man syndrome; familial startle di.. [+] congenital stiff man syndrome; familial startle disease; hereditary hyperekplexia; Kok disease; startle disease [-]	A nervous system disease characterized by an exagg..[+] A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. [-]	6 articles
lymphoproliferative syndrome	Combined immunodeficiency due to ITK deficiency	A primary immunodeficiency disease characterized b..[+] A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. [-]
lymphoproliferative syndrome 2	CD27 deficiency; LPFS2	A lymphoproliferative syndrome characterized by au..[+] A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. [-]
NGLY1-deficiency	congenital disorder of glycosylation type Iv; cong.. [+] congenital disorder of glycosylation type Iv; congenital disorder of deglycosylation; NGLY1-CDDG; deficiency of N-glycanase 1 [-]	A carbohydrate metabolic disorder that is characte..[+] A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. [-]
junctional epidermolysis bullosa with pyloric atresia	Carmi syndrome; JEB-PA; junctional epidermolysis b.. [+] Carmi syndrome; JEB-PA; junctional epidermolysis bullosa-pyloric atresia syndrome; epidermolysis bullosa junctionalis with pyloric atresia [-]	A junctional epidermolysis bullosa characterized b..[+] A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. [-]
Pendred Syndrome	congenital hypothyroidism due to dyshormonogenesis.. [+] congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B; genetic defect in thyroid hormonogenesis 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
basal laminar drusen	cuticular drusen; drusen of bruch membrane; early .. [+] cuticular drusen; drusen of bruch membrane; early adult-onset grouped drusen [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
autosomal recessive Robinow syndrome	COVESDEM syndrome; costovertebral segmentation def.. [+] COVESDEM syndrome; costovertebral segmentation defect-mesomelia syndrome; RRS [-]	A Robinow syndrome characterized by autosomal rece..[+] A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. [-]
Smith-Magenis syndrome	chromosome 17p11.2 deletion syndrome; 17p11.2 micr.. [+] chromosome 17p11.2 deletion syndrome; 17p11.2 microdeletion syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. [-]	2 articles
dextro-looped transposition of the great arteries	congenitally uncorrected transposition of the grea.. [+] congenitally uncorrected transposition of the great vessels; congenitally uncorrected transposition of the great arteries; D-TGA; isolated ventriculoarterial discordance; ventriculoarterial discordance with atrioventricular concordance; DTGA1 [-]	A congenital heart disease characterized by comple..[+] A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. [-]	1 articles
microvillus inclusion disease	congenital familial protracted diarrhea with enter.. [+] congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital microvillus atrophy; Davidson disease; diarrhea 2 with microvillus atrophy; intractable diarrhea of infancy; MVD [-]	A congenital diarrhea characterized by onset of in..[+] A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
syndromic X-linked intellectual disability Cabezas type	Cabezas syndrome; mental retardation, X-linked, sy.. [+] Cabezas syndrome; mental retardation, X-linked, syndromic 15 (Cabezas type); MRSS; MRXS15; MRXSC; X-linked mental retardation with short stature, hypogonadism, and abnormal gait; syndromic X-linked mental retardation 15; X-linked mental retardation with short stature; mental retardation, X-linked, syndromic 15 [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. [-]
Griscelli syndrome	Chediak-Higashi-like syndrome; ChÃ©diak-Higashi-li.. [+] Chediak-Higashi-like syndrome; ChÃ©diak-Higashi-like syndrome; Griscelli-PruniÃ©ras syndrome; Griscelli-Prunieras syndrome; partial albinism-immunodeficiency syndrome [-]	An integumentary system disease characterized by s..[+] An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. [-]	2 articles
hereditary neuropathy with liability to pressure palsies	current pressure-sensitive neuropathy; familial re.. [+] current pressure-sensitive neuropathy; familial recurrent polyneuropathy; HNPP; tomaculous neuropathy; heterozygous microdeletion 17p11.2p12; potato-grubbing palsy; tulip-bulb digger's palsy [-]	A neuropathy characterized by autosomal dominant i..[+] A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. [-]
Potocki-Lupski syndrome	chromosome 17p11.2 duplication syndrome; 17p11.2 m.. [+] chromosome 17p11.2 duplication syndrome; 17p11.2 microduplication syndrome; trisomy 17p11.2 [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. [-]
hypotonia-cystinuria syndrome	cystinuria with mitochondrial disease	A syndrome that has_material_basis_in homozygous d..[+] A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. [-]
leukoencephalopathy with vanishing white matter	CLE; Cree leukoencephalopathy; CACH/VWM; childhood.. [+] CACH/VWM; Cree leukoencephalopathy; CLE; childhood ataxia with central nervous system hypomyelination; CACH; vanishing white matter leukodystrophy; ovarioleukodystrophy [-]	A leukodystrophy characterized by variable neurolo..[+] A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. [-]
isolated growth hormone deficiency	congenital IGHD; congenital isolated growth hormon.. [+] congenital IGHD; congenital isolated growth hormone deficiency; congenital isolated GH deficiency; familial isolated growth hormone deficiency; non-acquired isolated growth hormone deficiency; IGHD [-]	A hypopituitarism characterized by abnormally low ..[+] A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. [-]
isolated growth hormone deficiency type II	congenital isolated GH deficiency type II; congeni.. [+] congenital isolated GH deficiency type II; congenital isolated growth hormone deficiency type II; congenital IGHD type II; autosomal dominant isolated growth hormone deficiency; autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency; IGHD II [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. [-]
isolated growth hormone deficiency type IB	congenital isolated growth hormone deficiency type.. [+] congenital isolated growth hormone deficiency type IB; congenital isolated GH deficiency type IB; congenital IGHD type IB; dwarfism of Sindh; IGHD IB [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. [-]
isolated growth hormone deficiency type III	congenital IGHD type III; congenital isolated grow.. [+] congenital IGHD type III; congenital isolated growth hormone deficiency type III; congenital isolated GH deficiency type III; growth hormone deficiency with hypogammaglobulinemia; IGHD III; X-linked agammaglobulinemia and isolated growth hormone deficiency; X-linked IGHD; X-linked isolated growth hormone deficiency; 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. [-]
ectopic Cushing syndrome	Cushing syndrome due to ectopic ACTH secretion; ec.. [+] Cushing syndrome due to ectopic ACTH secretion; ectopic ACTH secreting tumor [-]	A primary hyperaldosteronism that is characterized..[+] A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. [-]
APP-related cerebral amyloid angiopathy	Cerebral Amyloid Angiopathy, App-Related, Italian .. [+] Cerebral Amyloid Angiopathy, App-Related, Italian Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; HCHWAD [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. [-]
ITM2B-related cerebral amyloid angiopathy 1	Cerebral Amyloid Angiopathy, British Type; Familia.. [+] Cerebral Amyloid Angiopathy, British Type; Familial British Dementia; FBD; Presenile Dementia with Spastic Ataxia [-]	A cerebral amyloid angiopathy characterized by ons..[+] A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. [-]
ITM2B-related cerebral amyloid angiopathy 2	Cerebellar Ataxia, Cataract, Deafness, and Dementi.. [+] Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis; Familial Danish Dementia; FDD; Heredopathia Ophthalmootoencephalica; HOOE [-]	A cerebral amyloid angiopathy characterized by ata..[+] A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. [-]
schizophrenia 18	Chromosome 7q36.3 Duplication Syndrome, 362-Kb; SC.. [+] Chromosome 7q36.3 Duplication Syndrome, 362-Kb; SCZD18 [-]	A schizophrenia that has_material_basis_in a mutat..[+] A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. [-]
autosomal recessive cutis laxa type III	cutis laxa-corneal clouding-intellectual disabilit.. [+] cutis laxa-corneal clouding-intellectual disability syndrome; De Barsy syndrome [-]	A cutis laxa characterized by a progeria-like appe..[+] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. [-]

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