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Disease	Synonyms	Description	Articles
Qazi Markouizos syndrome	Dysharmonic skeletal maturation - muscular fibre d.. [+] Dysharmonic skeletal maturation - muscular fibre disproportion; Qazi-Markouizos syndrome [-]	A syndrome that is characterized by hypotonia, con..[+] A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. [-]
fibular hypoplasia and complex brachydactyly	Du Pan syndrome; acromesomelic dysplasia-2B	An acromesomelic dysplasia that is characterized b..[+] An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. [-]
Ehlers-Danlos syndrome spondylodysplastic type 2	defective biosynthesis of proteodermatan sulfate; .. [+] defective biosynthesis of proteodermatan sulfate; XGPT deficiency; xylosylprotein 4-beta-galactosyltransferase deficiency; EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2; Ehlers-Danlos syndrome progeroid type [-]	An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. [-]
tricuspid valve disease	disease of tricuspid valve; RH. tricuspid valve di.. [+] disease of tricuspid valve; RH. tricuspid valve disease; Rheumatic disease of tricuspid valve (disorder); rheumatic tricuspid valve disease; Rheumatic tricuspid valve disease NOS (disorder); Rheumatic tricuspid valve disease; Rheumatic disease of tricuspid valve; Tricuspid disease [-]	A heart valve disease that is characterized by val..[+] A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. [-]
generalized dystonia	dystonia deformans progressiva; dystonia musculoru.. [+] dystonia deformans progressiva; dystonia musculorum deformans; Dystonia 12; familial dystonia; fragments of torsion dystonia; idiopathic familial dystonia; Idiopathic torsion dystonia; symptomatic torsion dystonia; idiopathic non-familial dystonia [-]	A dystonia that affects most or all of the body.
reticular dysgenesis	De Vaal disease; aleukocytosis	A severe combined immunodeficiency that is the mos..[+] A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. [-]
body dysmorphic disorder	dysmorphophobia; dysmorphic syndrome; body dysmorp.. [+] dysmorphic syndrome; dysmorphophobia; body dysmorphia [-]	A somatoform disorder that involves an excessive c..[+] A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). [-]
amyotrophic lateral sclerosis type 4	distal hereditary motor neuropathy with pyramidal .. [+] distal hereditary motor neuropathy with pyramidal features; distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; ALS 4; amyotrophic lateral sclerosis 4, juvenile; amyotrophic lateral sclerosis 4 [-]	An amyotrophic lateral sclerosis with juvenile ons..[+] An amyotrophic lateral sclerosis with juvenile onset that has material basis in mutation in the SETX gene on chromosome 9. [-]
Cogan syndrome	diffuse interstitual keratitis; Cogan's syndrome	An eye disease characterized by nonsyphilitic inte..[+] An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. [-]
3-M syndrome	dolichospondylic dysplasia; gloomy face syndrome; .. [+] dolichospondylic dysplasia; gloomy face syndrome; Le Merrer syndrome; three M syndrome; Yakut short stature syndrome; Miller-McKusick-Malvaux syndrome [-]	A syndrome characterized by dwarfism, facial dysmo..[+] A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
Simpson-Golabi-Behmel syndrome type 1	DGSX Golabi-Rosen syndrome; Sara Angers syndrome; .. [+] DGSX Golabi-Rosen syndrome; Sara Angers syndrome; Simpson dysmorphia syndrome; X-linked dysplasia gigantism syndrome; bulldog syndrome; SGB syndrome; Golabi-Rosen 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. [-]
ptosis	drooping eyelid; blepharoptosis	An eye disease characterized by the drooping or fa..[+] An eye disease characterized by the drooping or falling of the upper or lower eyelid. [-]
peeling skin syndrome	deciduous skin; familial continuous skin peeling s.. [+] deciduous skin; familial continuous skin peeling syndrome; keratosis exfoliativa congenita; peeling skin disease; PSS [-]	A skin disease that is characterized by the painle..[+] A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. [-]
agnathia-otocephaly complex	dysgnathia complex agnathia-holoprosencephaly; hol.. [+] dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly; agnathia-holoprosencephaly-situs inversus syndrome [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
chromosome 13q14 deletion syndrome	deletion 13q14	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. [-]
chromosome 15q26-qter deletion syndrome	distal monosomy 15q; Drayer syndrome; distal 15q d.. [+] Drayer syndrome; distal monosomy 15q; distal 15q deletion syndrome; 15q26 deletion syndrome; telomeric 15q deletion syndrome [-]	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. [-]	1 articles
chromosome 16p11.2 deletion syndrome, 220-kb	distal 16p11.2 microdeletion syndrome	A chromosomal deletion syndrome that is characteri..[+] A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. [-]
chromosome 18p deletion syndrome	De Grouchy syndrome; 18p- syndrome; monosomy 18p	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. [-]
chromosome 18q deletion syndrome	deletion 18q; 18q- syndrome; monosomy 18q	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. [-]
chromosome 1p36 deletion syndrome	deletion 1p36; 1p36 deletion syndrome; monosomy 1p.. [+] deletion 1p36; 1p36 deletion syndrome; monosomy 1p36; subtelomeric 1p36 deletion [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. [-]
chromosome 22q11.2 deletion syndrome, distal	DiGeorge syndrome and Velocardiofacial syndrome; d.. [+] DiGeorge syndrome and Velocardiofacial syndrome; distal 22q11.2 microdeletion syndrome; 22q11.2 deletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. [-]	1 articles
3p deletion syndrome	distal monosomy 3p; chromosome 3pter-P25 deletion .. [+] distal monosomy 3p; chromosome 3pter-P25 deletion syndrome [-]	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. [-]
chromosome 6pter-p24 deletion syndrome	distal monosomy 6p; 6p25 microdeletion syndrome; 6.. [+] distal monosomy 6p; 6p25 microdeletion syndrome; 6p subtelomeric deletion syndrome [-]	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. [-]
chromosome 16p13.3 duplication syndrome	distal duplication 16p; distal trisomy 16p; 16p13... [+] distal trisomy 16p; distal duplication 16p; 16p13.3 microduplication syndrome; telomeric duplication 16p [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. [-]
chromosome 22q11.2 microduplication syndrome	duplication 22q11.2; 22q11.2 microduplication synd.. [+] duplication 22q11.2; 22q11.2 microduplication syndrome; trisomy 22q11.2 [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. [-]
lysinuric protein intolerance	dibasic amino aciduria II; hyperdibasic aminoacidu.. [+] dibasic amino aciduria II; hyperdibasic aminoaciduria; LPI [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [-]
Feingold syndrome	digital anomalies with short palpebral fissures an.. [+] digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; oculo-digito-esophageal-duodenal syndrome; ODED syndrome; microcephaly-digital anomalies-normal intelligence syndrome [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
zebrafish allergy	Danio rerio allergy	A fish allergy triggered by Danio rerio.
isolated anhidrosis with normal sweat glands	Dann-Epstein-Sohar syndrome	An anhidrosis that has_material_basis_in homozygou..[+] An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. [-]
NGLY1-deficiency	deficiency of N-glycanase 1; congenital disorder o.. [+] deficiency of N-glycanase 1; congenital disorder of deglycosylation; congenital disorder of glycosylation type Iv; NGLY1-CDDG [-]	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. [-]
torsion dystonia 1	dystonia musculorum deformans	A generalized dystomia characterized by autosomal ..[+] A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. [-]
Pendred Syndrome	deafness with goiter; congenital hypothyroidism du.. [+] deafness with goiter; congenital hypothyroidism due to dyshormonogenesis 2B; 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	drusen of bruch membrane; cuticular drusen; early .. [+] drusen of bruch membrane; cuticular drusen; 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 dominant Robinow syndrome 2	DRS2	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. [-]
autosomal dominant Robinow syndrome 1	DRS1	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. [-]	1 articles
autosomal dominant Robinow syndrome 3	DRS3	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. [-]
multiple types of congenital heart defects 6	dextro-looped transposition of the great arteries .. [+] dextro-looped transposition of the great arteries 3; DTGA3 [-]	A congenital heart disease that is characterized b..[+] A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that \nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. [-]	1 articles
microvillus inclusion disease	diarrhea 2 with microvillus atrophy; Davidson dise.. [+] diarrhea 2 with microvillus atrophy; Davidson disease; congenital microvillus atrophy; intractable diarrhea of infancy; MVD; congenital familial protracted diarrhea with enterocyte brush-border abnormalities [-]	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. [-]
congenital diarrhea 5 with tufting enteropathy	DIAR5; congenital familial intractable diarrhea wi.. [+] DIAR5; congenital familial intractable diarrhea with epithelial or epithelium abnormalities; tufting enteropathy; congenital diarrhoea 5 with tufting enteropathy; congenital familial intractable diarrhoea with epithelial or epithelium abnormalities; congenital tufting enteropathy [-]	A congenital diarrhea characterized by intractable..[+] A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. [-]
congenital secretory sodium diarrhea 8	DIAR8	A secretory diarrhea that has_material_basis_in ho..[+] A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. [-]
hypomyelinating leukodystrophy 7	dentoleukoencephalopathy; ataxia-delayed dentition.. [+] dentoleukoencephalopathy; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
septooptic dysplasia	De Morsier syndrome; SOD; septo-optic dysplasia	A syndrome characterized by the classical triad of..[+] A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. [-]
isolated growth hormone deficiency type IB	dwarfism of Sindh; congenital IGHD type IB; congen.. [+] dwarfism of Sindh; congenital IGHD type IB; congenital isolated GH deficiency type IB; IGHD IB; congenital isolated growth hormone deficiency type 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. [-]
autosomal dominant dyskeratosis congenita 1	Dyskeratosis Congenita, Scoggins Type; DKCA1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. [-]
autosomal recessive dyskeratosis congenita 1	DKCB1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. [-]
autosomal dominant dyskeratosis congenita 2	DKCA2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 2	DKCB2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. [-]
autosomal dominant dyskeratosis congenita 3	DKCA3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. [-]
autosomal recessive dyskeratosis congenita 3	DKCB3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. [-]
autosomal dominant dyskeratosis congenita 4	DKCA4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. [-]

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