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Disease	Synonyms	Description
arteriovenous malformations of the brain	cerebral arteriovenous malformation; intracranial .. [+] cerebral arteriovenous malformation; intracranial arteriovenous malformation [-]	An arteriovenous malformation that is located_in t..[+] An arteriovenous malformation that is located_in the brain. [-]
atrichia with papular lesions	APL; papular atrichia	An alopecia characterized by irreversible hair los..[+] An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. [-]
autosomal dominant auditory neuropathy 1	AUNA1; nonsyndromic dominant auditory neuropathy; .. [+] AUNA1; nonsyndromic dominant auditory neuropathy; NSDAN [-]	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. [-]
autosomal recessive congenital ichthyosis 2	ARCI2; BROCQ congenital ichthyosiform erythroderma.. [+] ARCI2; BROCQ congenital ichthyosiform erythroderma nonbullous form; NCIE1; nonbullous congenital ichthyosiform erythroderma 1 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. [-]
autosomal recessive congenital ichthyosis 3	ARCI3; lamellar ichthyosis 5	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. [-]
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 hetrezogyous mutation in the ABCA12 gene on chromosome 2q35. [-]
autosomal recessive congenital ichthyosis 4B	ARCI4B; harlequin ichthyosis; harlequin type ichth.. [+] ARCI4B; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis [-]	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; lamellar ichthyosis 4; late-onset lamellar .. [+] ARCI8; lamellar ichthyosis 4; late-onset lamellar ichthyosis [-]	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. [-]
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	autosomal-dominant or late-onset type Pelizaeus-Me.. [+] autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease; adult-onset autosomal dominant leukodystrophy; ADLD [-]	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. [-]
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. [-]
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. [-]
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 TERC 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 TERT 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 TINF2 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 RTEL1 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 TERT 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 PARN 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 non-syndromic intellectual disability 1	autosomal dominant mental retardation 1; MRD1	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of MBD5 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 non-syndromic intellectual disability 3	autosomal dominant mental retardation 3; MRD3	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CDH15 on chromosome 16q24.3. [-]
autosomal dominant non-syndromic intellectual disability 4	autosomal dominant mental retardation 4; MRD4	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIRREL3 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 non-syndromic intellectual disability 6	autosomal dominant mental retardation 6; MRD6	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN2B 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. [-]
autosomal dominant non-syndromic intellectual disability 8	autosomal dominant mental retardation 8; MRD8	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of GRIN1 on chromosome 9q34.3. [-]
autosomal dominant non-syndromic intellectual disability 9	autosomal dominant mental retardation 9; MRD9	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KIF1A on chromosome 2q37.3. [-]
autosomal dominant non-syndromic intellectual disability 10	autosomal dominant mental retardation 10; MRD10	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of CACNG2 on chromosome 22q12.3. [-]
autosomal dominant non-syndromic intellectual disability 11	autosomal dominant mental retardation 11; MRD11	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of EPB41L1 on chromosome 20q11.23. [-]
autosomal dominant non-syndromic intellectual disability 13	autosomal dominant mental retardation 13; mental r.. [+] autosomal dominant mental retardation 13; mental retardation, autosomal dominant 13, with neuronal migration defects; MRD13 [-]	An autosomal dominant non-syndromic intellectual d..[+] An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of DYNC1H1 on chromosome 14q32.31. [-]

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