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Disease	Synonyms	Description	Articles
autosomal recessive congenital ichthyosis 4A	ARCI4A; ichthyosis congenita IIB; ICR2B; lamellar .. [+] ARCI4A; ichthyosis congenita IIB; ICR2B; lamellar ichthyosis 2 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 4B	ARCI4B; harlequin type ichthyosis congenita; harle.. [+] ARCI4B; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis; harlequin ichthyosis [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 5	autosomal recessive congenital nonlamellar and non.. [+] autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis; ARCI5 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. [-]
autosomal recessive congenital ichthyosis 6	ARCI6	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. [-]
autosomal recessive congenital ichthyosis 7	ARCI7	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. [-]
autosomal recessive congenital ichthyosis 8	ARCI8; late-onset lamellar ichthyosis; lamellar ic.. [+] ARCI8; late-onset lamellar ichthyosis; lamellar ichthyosis 4 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. [-]
autosomal recessive congenital ichthyosis 9	ARCI9	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. [-]
autosomal recessive congenital ichthyosis 10	ARCI10	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. [-]
autosomal recessive congenital ichthyosis 11	autosomal recessive ichthyosis with hypotrichosis; .. [+] autosomal recessive ichthyosis with hypotrichosis; hypotrichosis-congenital ichthyosis syndrome; ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis; ichthyosis-follicular atrophoderma-hypotrichosis syndrome; ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome; ichthyosis-hypotrichosis syndrome; IFAH syndrome; IHS [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. [-]
autosomal recessive Robinow syndrome	costovertebral segmentation defect-mesomelia syndr.. [+] costovertebral segmentation defect-mesomelia syndrome; COVESDEM 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. [-]
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. [-]
adult-onset autosomal dominant demyelinating leukodystrophy	ADLD; autosomal-dominant or late-onset type Peliza.. [+] ADLD; autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease; adult-onset autosomal dominant leukodystrophy [-]	A leukodystrophy characterized by onset in the 4th..[+] A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. [-]
annular pancreas		A pancreas disease characterized by autosomal domi..[+] A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. [-]
autosomal recessive pseudohypoaldosteronism type 1	autosomal recessive PHA 1; PHA1B	A pseudohypoaldosteronism characterized by enal sa..[+] A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. [-]	1 articles
autosomal dominant pseudohypoaldosteronism type 1	autosomal dominant PHA 1; PHA1A	A pseudohypoaldosteronism characterized by Salt wa..[+] A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. [-]	1 articles
autosomal dominant keratitis-ichthyosis-deafness syndrome	autosomal dominant KID syndrome	A syndrome characterized by congenital deafness, k..[+] A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. [-]	6 articles
autosomal dominant Parkinson disease 4	autosomal dominant Lewy body Parkinson disease 4	A late onset Parkinson disease that has_material_b..[+] A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene (SNCA) on chromosome 4q22. [-]
autosomal recessive early-onset Parksinson disease 23		An early-onset Parkinson disease that has_material..[+] An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. [-]
autosomal recessive Parkinson disease 14		A late-onset Parkinson disease that has_material_b..[+] A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. [-]
autosomal dominant dyskeratosis congenita 1	DKCA1; Dyskeratosis Congenita, Scoggins Type	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. [-]
autosomal recessive dyskeratosis congenita 4	DKCB4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 5	DKCB5	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal dominant dyskeratosis congenita 6	DKCA6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. [-]
autosomal recessive dyskeratosis congenita 6	DKCB6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. [-]
APP-related cerebral amyloid angiopathy	Amyloidosis, Hereditary, With Cerebral Hemorrhage,.. [+] Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; Amyloidosis, Cerebroarterial, App-Related; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Italian 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. [-]
autosomal dominant intellectual developmental disorder 1	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 1; autosomal dominant mental retardation 1; MRD1 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. [-]
autosomal dominant intellectual developmental disorder 2	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 2; autosomal dominant mental retardation 2; MRD2 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. [-]
autosomal dominant intellectual developmental disorder 3	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 3; autosomal dominant mental retardation 3; MRD3 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. [-]
autosomal dominant intellectual developmental disorder 4	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 4; autosomal dominant mental retardation 4; MRD4 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. [-]
autosomal dominant intellectual developmental disorder 5	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 5; autosomal dominant mental retardation 5; MRD5 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. [-]
autosomal dominant intellectual developmental disorder 6	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 6; autosomal dominant mental retardation 6; MRD6 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. [-]
autosomal dominant intellectual developmental disorder 7	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 7; autosomal dominant mental retardation 7; MRD7; DYRK1A syndrome [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. [-]	1 articles
autosomal dominant intellectual developmental disorder 8	autosomal dominant mental retardation 8; autosomal.. [+] autosomal dominant mental retardation 8; autosomal dominant non-syndromic intellectual disability 8; MRD8 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. [-]
autosomal dominant intellectual developmental disorder 10	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 10; autosomal dominant mental retardation 10; MRD10 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. [-]
autosomal dominant intellectual developmental disorder 11	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 11; autosomal dominant mental retardation 11; MRD11 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. [-]
autosomal dominant intellectual developmental disorder 13	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 13; autosomal dominant mental retardation 13; mental retardation, autosomal dominant 13, with neuronal migration defects; MRD13 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. [-]
autosomal dominant intellectual developmental disorder 19	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 19; autosomal dominant mental retardation 19; MRD19 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. [-]
autosomal dominant intellectual developmental disorder 21	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 21; autosomal dominant mental retardation 21; MRD21 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. [-]
autosomal dominant intellectual developmental disorder 22	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 22; autosomal dominant mental retardation 22; MRD22 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. [-]
autosomal dominant intellectual developmental disorder 23	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 23; autosomal dominant mental retardation 23; MRD23 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. [-]
autosomal dominant intellectual developmental disorder 26	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 26; autosomal dominant mental retardation 26; MRD26 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. [-]
autosomal dominant intellectual developmental disorder 29	autosomal dominant non-syndromic intellectual disa.. [+] autosomal dominant non-syndromic intellectual disability 29; autosomal dominant mental retardation 29; MRD29 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. [-]

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