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Disease	Synonyms	Description	Articles
Loeys-Dietz syndrome 1	AAT5; familial throacic aortic aneurysm 5; Furlong.. [+] AAT5; familial throacic aortic aneurysm 5; Furlong syndrome; LDS1 [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. [-]
Loeys-Dietz syndrome 3	aneurysms-osteoarthritis syndrome; LDS1C; LDS3; Lo.. [+] aneurysms-osteoarthritis syndrome; LDS1C; LDS3; Loeys-Dietz syndrome type 1C; Loeys-Dietz syndrome with osteoarthritis [-]	A Loeys-Dietz syndrome that has_material_basis_in ..[+] A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. [-]
congenital disorder of glycosylation type IIa	Alkuraya syndrome; carbohydrate-deficient glycopro.. [+] Alkuraya syndrome; carbohydrate-deficient glycoprotein syndrome, type II; CDG IIa; CDG2A; CDGIIa; CDGS2; congenital disorder of glycosylation, type IIa; mental retardation, growth retardation, prominent columella, and open mouth [-]	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 MGAT2 gene on chromosome 14q21.3. [-]
hereditary spastic paraplegia 70	autosomal recessive spastic paraplegia 70; SPG70	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. [-]
hereditary spastic paraplegia 79A	autosomal dominant spastic paraplegia 79A; SPG79A; .. [+] autosomal dominant spastic paraplegia 79A; SPG79A [-]	A hereditary spastic paraplegia characterized by s..[+] A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. [-]
hereditary spastic paraplegia 87	autosomal recessive spastic paraplegia 87; SPG87	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. [-]
hereditary spastic paraplegia 88	autosomal dominant spastic paraplegia 88; SPG88	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. [-]
hereditary spastic paraplegia 89	autosomal recessive spastic paraplegia 89; SPG89	A hereditary spastic paraplegia characterized by i..[+] A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. [-]
hereditary spastic paraplegia 90A	autosomal dominant spastic paraplegia 90A; SPG90A; .. [+] autosomal dominant spastic paraplegia 90A; SPG90A [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
hereditary spastic paraplegia 90B	autosomal recessive spastic paraplegia 90B; SPG90B.. [+] autosomal recessive spastic paraplegia 90B; SPG90B [-]	A hereditary spastic paraplegia characterized by m..[+] A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. [-]
spinocerebellar ataxia with axonal neuropathy type 3	autosomal recessive spinocerebellar ataxia with ax.. [+] autosomal recessive spinocerebellar ataxia with axonal neuropathy 3; SCAN3; spinocerebellar ataxia with axonal neuropathy 3 [-]	An autosomal recessive cerebellar ataxia character..[+] An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. [-]
Parkinson's disease 25	autosomal recessive early-onset Parkinson disease .. [+] autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development; PARK25 [-]	An early-onset Parkinson's disease characterized b..[+] An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. [-]
early-onset vitamin B6-dependent epilepsy 4	antiquitin deficiency; AASA dehydrogenase deficien.. [+] antiquitin deficiency; AASA dehydrogenase deficiency; EPEO4; PDE-ALDH7A1 [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. [-]
peeling skin syndrome 2	acral peeling skin syndrome; APSS; localized peeli.. [+] APSS; acral peeling skin syndrome; localized peeling skin syndrome; PSS2 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. [-]
peeling skin syndrome 4	AREI; autosomal recessive exfoliative ichthyosis; .. [+] autosomal recessive exfoliative ichthyosis; AREI; exfoliative ichthyosis; ichthyosis bullosa of Siemens-like; ichthyosis exfoliativa; PSS4 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. [-]
peeling skin syndrome 5	autosomal recessive exfoliative ichthyosis; exfoli.. [+] autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; ichthyosis exfoliativa; PSS5 [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. [-]
neurodevelopmental disorder with spastic paraplegia and microcephaly	autosomal recessive mental retardation 49; glutama.. [+] autosomal recessive mental retardation 49; glutamate pyruvate transaminase 2 deficiency; GPT2 deficiency; MRT49; NEDSPM [-]	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. [-]
Worth syndrome	autosomal dominant osteosclerosis; autosomal domin.. [+] autosomal dominant osteosclerosis; autosomal dominant endosteal hyperostosis; benign form of Worth hyperostosis corticalis generalisata with torus platinus; Worth syndrome; Worth's syndrome [-]	A hyperostosis that has_material_basis_in a mutati..[+] A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. [-]
nonsyndromic congenital nail disorder 4	anonychia congenita; HYPONYCHIA CONGENITA	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. [-]
myofibrillar myopathy 1	autosomal recessive limb-girdle muscular dystrophy.. [+] autosomal recessive limb-girdle muscular dystrophy type 2R; desminopathy [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. [-]
myofibrillar myopathy 2	alpha-b crystallinopathy	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. [-]
myofibrillar myopathy 3	autosomal dominant limb-girdle muscular dystrophy .. [+] autosomal dominant limb-girdle muscular dystrophy type 1A; myotilinopathy; LGMD 1A; spheroid body myopathy [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. [-]
myofibrillar myopathy 7	alpha-b crystalin-related fatal infantile hyperton.. [+] alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy [-]	A myofibrillar myopathy that has_material_basis_in..[+] A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. [-]
otulipenia	autoinflammation, panniculitis and dermatosis synd.. [+] autoinflammation, panniculitis and dermatosis syndrome; otulin-related autoinflammatory syndrome [-]	An immune system disease that is characterized by ..[+] An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. [-]
Clark-Baraitser syndrome	autosomal dominant mental retardation 49; autosoma.. [+] autosomal dominant mental retardation 49; autosomal dominant intellectual disability 49; Baraitser syndrome; CLABARS [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. [-]
developmental and epileptic encephalopathy 39	AGC1 deficiency; early infantile epileptic encepha.. [+] AGC1 deficiency; early infantile epileptic encephalopathy 39; epileptic encephalopathy with global cerebral demyelination [-]	A developmental and epileptic encephalopathy chara..[+] A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. [-]
pustular psoriasis 14	acrodermatitis continua of Hallopeau; deficiency o.. [+] acrodermatitis continua of Hallopeau; deficiency of IL-36R antagonist [-]	A psoriasis characterized by sudden, repeated epis..[+] A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. [-]
GM1 gangliosidosis type 3	adult-onset GM1 gangliosidosis	A GM1 gangliosidosis that is characterized by neur..[+] A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. [-]
Parkinson's disease 22	autosomal dominant Parkinson's disease 22	A late onset Parkinson's disease that has_material..[+] A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. [-]
congenital disorder of glycosylation Ig	ALG12-congenital disorder of glycosylation; congen.. [+] ALG12-congenital disorder of glycosylation; congenital disorder of glycosylation 1g [-]	A congenital disorder of glycosylation I that is c..[+] A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. [-]
corticosterone methyloxidase deficiency 1	aldosterone synthase deficiency	An adrenal gland disease that is characterized by ..[+] An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. [-]
Sweet syndrome	Acute Febrile Neutrophilic Dermatosis; Sweet's syn.. [+] Acute Febrile Neutrophilic Dermatosis; Sweet's syndrome [-]	A skin disease that is characterized by sudden ons..[+] A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. [-]
Fanconi renotubular syndrome 5	Acadian-variant Fanconi syndrome	A Fanconi syndrome that is characterized by proxim..[+] A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. [-]
IDH-mutant and 1p/19q-codeleted oligodendroglioma	anaplastic oligodendroglioma, IDH-mutant and 1p/19.. [+] anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted; Oligodendroglioma, IDH-mutant and 1p/19q-codeleted [-]	An anaplastic oligodendroglioma that has_material_..[+] An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). [-]
Bainbridge-Ropers syndrome	ASXL3-related disorder	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, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. [-]	1 articles
dialysis-related amyloidosis	Amyloidosis Beta2M; Aβ2M amyloidosis; ABeta2M amyl.. [+] Aβ2M amyloidosis; Amyloidosis Beta2M; ABeta2M amyloidosis; Beta2-microglobulinic amyloidosis; dialysis-related beta2-microglobulin amyloidosis [-]	An amyloidosis that is characterized by the deposi..[+] An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. [-]
primary localized cutaneous amyloidosis 3	Amyloidosis cutis dyschromica	A primary cutaneous amyloidosis that is characteri..[+] A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. [-]
immunoglobulin light chain amyloidosis	AL amyloidosis; Amyloidosis primary systemic; Ligh.. [+] Amyloidosis primary systemic; AL amyloidosis; Light chain amyloidosis; Primary AL amyloidosis; Primary systemic AL amyloidosis; Primary systemic amyloidosis; Systemic AL amyloidsis [-]	An amyloidosis that is characterized by misfolded ..[+] An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. [-]
immunoglobulin heavy chain amyloidosis	Amyloidosis derived from immunoglobulin heavy chai.. [+] Amyloidosis derived from immunoglobulin heavy chain; AH amyloidosis; Heavy chain amyloidosis; Ig heavy-chain–associated amyloidosis [-]	An amyloidosis that is characterized by the aggreg..[+] An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. [-]
immunoglobulin heavy-and-light chain	AH/AL amyloidosis; Ig heavy-and-light-chain amyloi.. [+] AH/AL amyloidosis; Ig heavy-and-light-chain amyloidosis [-]	An amyloidosis that is characterized by both Ig he..[+] An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. [-]
serum amyloid A amyloidosis	AA amyloidosis; Apo serum amyloid A amyloidosis; i.. [+] Apo serum amyloid A amyloidosis; AA amyloidosis; inflammation AA amyloidosis; secondary amyloidosis [-]	An amyloidosis that is characterized by sustained ..[+] An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. [-]
wild-type amyloidosis	Age related amyloidosis; ATTRwt amyloidosis; Old a.. [+] ATTRwt amyloidosis; Age related amyloidosis; Old age amyloidosis; senile systemic amyloidosis; wild-type ATTR amyloidosis; wild-type transthyretin cardiac amyloidosis [-]	An amyloidosis that is characterized by progressiv..[+] An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. [-]
familial Behcet-like autoinflammatory syndrome	A20 haploinsufficiency	A primary immunodeficiency disease that is charact..[+] A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. [-]
retinal dystrophy with leukodystrophy	ACBD5 deficiency	A peroxisomal disease that is characterized by a p..[+] A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. [-]
primary hypoalphalipoproteinemia 2	Apolipoprotein A-I deficiency	A hypolipoproteinemia that is characterized by dys..[+] A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. [-]
nephrogenic diabetes insipidus type 2	autosomal nephrogenic diabetes insipidus-2	A nephrogenic diabetes insipidus that is character..[+] A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. [-]
blastic plasmacytoid dendritic cell neoplasm	Agranular CD4+ Natural Killer Cell Leukemia; Agran.. [+] Agranular CD4+ Natural Killer Cell Leukemia; Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor; Blastic Natural Killer Leukemia/Lymphoma; Blastic NK-Cell Lymphoma; CD4+/CD56+ Hematodermic Neoplasm; natural killer (NK) cell leukemia/lymphoma [-]	An acute leukemia that is derived from the precurs..[+] An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. [-]
ectodermal dysplasia and immune deficiency	Anhidrotic ectodermal dysplasia with immune defici.. [+] Anhidrotic ectodermal dysplasia with immune deficiency; Ectodermal dysplasia, hypohidrotic, with immune deficiency [-]	An ectodermal dysplasia syndrome that is character..[+] An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. [-]
neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies	autosomal recessive mental retardation 36	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. [-]	1 articles
benign familial infantile seizures 6	Autosomal dominant nocturnal frontal lobe epilepsy.. [+] Autosomal dominant nocturnal frontal lobe epilepsy; Benign Familial Infantile Seizures, 6; nocturnal frontal lobe epilepsy-4 [-]	A benign familial infantile epilepsy that is chara..[+] A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. [-]

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