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Disease	Synonyms	Description	Articles
autosomal dominant nocturnal frontal lobe epilepsy 1	nocturnal frontal lobe epilepsy 1; ENFL1	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. [-]	1 articles
autosomal dominant nocturnal frontal lobe epilepsy 2	nocturnal frontal lobe epilepsy 2; ENFL2	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. [-]	2 articles
autosomal dominant nocturnal frontal lobe epilepsy 3	nocturnal frontal lobe epilepsy 3; ENFL3	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 4	nocturnal frontal lobe epilepsy 4; ENFL4	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 5	nocturnal frontal lobe epilepsy 5; ENFL5	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]	1 articles
autosomal dominant auditory neuropathy 1	NSDAN; nonsyndromic dominant auditory neuropathy; .. [+] nonsyndromic dominant auditory neuropathy; NSDAN; AUNA1 [-]	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	NCIE1; nonbullous congenital ichthyosiform erythro.. [+] NCIE1; nonbullous congenital ichthyosiform erythroderma 1; ARCI2; BROCQ congenital ichthyosiform erythroderma nonbullous form [-]	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. [-]
isolated growth hormone deficiency	non-acquired isolated growth hormone deficiency; c.. [+] non-acquired isolated growth hormone deficiency; congenital isolated GH deficiency; familial isolated growth hormone deficiency; congenital isolated growth hormone deficiency; congenital IGHD; 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. [-]
Y-linked spermatogenic failure 2	nonobstructive Y-linked spermatogenic failure; SPG.. [+] nonobstructive Y-linked spermatogenic failure; SPGFY2 [-]	A spermatogenic failure that is characterized by n..[+] A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. [-]
hereditary lymphedema I	Nonne-Milroy lymphedema; congenital primary lymphe.. [+] Nonne-Milroy lymphedema; congenital primary lymphedema; LMPH1; PCL; Milroy disease; hereditary lymphedema type I [-]	A hereditary lymphedema characterized by autosomal..[+] A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. [-]
progressive familial intrahepatic cholestasis 5	NR1H4 deficiency; PFIC5	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. [-]
primary coenzyme Q10 deficiency 7	neonatal encephalomyopathy-cardiomyopathy-respirat.. [+] neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome; coenzyme Q10 deficiency, primary, 7; COQ10D7; COQ4-related neonatal encephalomyopathy [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. [-]
schwannomatosis 1	neurofibromatosis 3; SMARCB1-related schwannomatos.. [+] neurofibromatosis 3; SMARCB1-related schwannomatosis; SWN1 [-]	A schwannomatosis that has_material_basis_in germl..[+] A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. [-]
schwannomatosis 2	neurofibromatosis 3; LZTR1-related schwannomatosis.. [+] neurofibromatosis 3; LZTR1-related schwannomatosis; SWN2 [-]	A schwannomatosis that has_material_basis_in germl..[+] A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. [-]
Legius syndrome	NF1-like syndrome; neurofibromatosis type 1-like s.. [+] NF1-like syndrome; neurofibromatosis type 1-like syndrome; LGSS [-]	A RASopathy characterized by multiple cafe-au-lait..[+] A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. [-]
Halperin-Birk syndrome	NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLE.. [+] NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES; NEDSOSB; HLBKS [-]	A syndrome characterized by structural brain defec..[+] A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. [-]
otospondylomegaepiphyseal dysplasia, autosomal recessive	NANCE-SWEENEY CHONDRODYSPLASIA; NANCE-INSLEY SYNDR.. [+] NANCE-SWEENEY CHONDRODYSPLASIA; NANCE-INSLEY SYNDROME; CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS; OSMEDB [-]	An osteochondrodysplasia that results from mutatio..[+] An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. [-]
intestinal pseudo-obstruction	neuronal intestinal dysplasia; Chronic intestinal .. [+] neuronal intestinal dysplasia; Chronic intestinal pseudo-obstruction [-]	A colonic disease that is characterized by bowel o..[+] A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. [-]
metabolic dysfunction-associated steatotic liver disease	NAFLD; nonalcoholic fatty liver disease; non-alcoh.. [+] nonalcoholic fatty liver disease; NAFLD; non-alcoholic fatty liver disease; MAFLD; MASLD; metabolic dysfunction-associated fatty liver disease; metabolic dysfunction-related steatotic liver disease; metabolic-associated fatty liver disease [-]	A steatotic liver disease characterized by at leas..[+] A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. [-]	3 articles
orofacial cleft 1	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 1 [-]	An orofacial cleft characterized by autosomal domi..[+] An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. [-]
orofacial cleft 2	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 2 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. [-]
orofacial cleft 3	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 3 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. [-]
orofacial cleft 4	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 4 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. [-]
orofacial cleft 5	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 5 [-]	An orofacial cleft that has_material_basis_in muta..[+] An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. [-]
orofacial cleft 9	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 9 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. [-]
orofacial cleft 10	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 10 [-]	An orofacial cleft that has_material_basis_in muta..[+] An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. [-]
orofacial cleft 11	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 11 [-]	An orofacial cleft that has_material_basis_in hete..[+] An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. [-]
orofacial cleft 12	nonsyndromic cleft lip with or without cleft palat.. [+] nonsyndromic cleft lip with or without cleft palate 12 [-]	An orofacial cleft that has_material_basis_in vari..[+] An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. [-]
lung non-squamous non-small cell carcinoma	non- squamous NSCLC	A lung non-small cell carcinoma that is characteri..[+] A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. [-]
metabolic dysfunction-associated steatohepatitis	nonalcoholic steatohepatitis; non-alcoholic steato.. [+] nonalcoholic steatohepatitis; non-alcoholic steatohepatitis; NASH; MASH [-]	A metabolic dysfunction-associated steatotic liver..[+] A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. [-]
GNE myopathy	Nonaka myopathy; Distal Myopathy with Rimmed Vacuo.. [+] Nonaka myopathy; Distal Myopathy with Rimmed Vacuoles; Distal myopathy, Nonaka type; Hereditary Inclusion Body Myopathy; inclusion body myopathy 2 [-]	A myopathy that is characterized by progressive sk..[+] A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. [-]
X-linked nephrogenic diabetes insipidus	nephrogenic diabetes insipidus type 1	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 a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. [-]
blastic plasmacytoid dendritic cell neoplasm	natural killer (NK) cell leukemia/lymphoma; Agranu.. [+] natural killer (NK) cell leukemia/lymphoma; Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor; Agranular CD4+ Natural Killer Cell Leukemia; Blastic Natural Killer Leukemia/Lymphoma; Blastic NK-Cell Lymphoma; CD4+/CD56+ Hematodermic Neoplasm [-]	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. [-]
benign familial infantile seizures 6	nocturnal frontal lobe epilepsy-4; Autosomal domin.. [+] nocturnal frontal lobe epilepsy-4; Autosomal dominant nocturnal frontal lobe epilepsy; Benign Familial Infantile Seizures, 6 [-]	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. [-]
Wiedemann-Rautenstrauch syndrome	Neonatal progeroid syndrome; PROGEROID SYNDROME, N.. [+] Neonatal progeroid syndrome; PROGEROID SYNDROME, NEONATAL [-]	A progeroid syndrome that is characterized by intr..[+] A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
progressive non-fluent aphasia	nonfluent agrammatic PPA; Agramatic variant of pri.. [+] nonfluent agrammatic PPA; Agramatic variant of primary progressive aphasia [-]	A primary progressive aphasia that is characterize..[+] A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. [-]
CINCA Syndrome	NOMID syndrome; neonatal-onset multisystem inflamm.. [+] NOMID syndrome; neonatal-onset multisystem inflammatory disease; chronic infantile neurological cutaneous articular syndrome; chronic neurologic cutaneous and articular syndrome; cryopyrin-associated periodic syndrome 3; Prieur-Griscelli syndrome; IOMID syndrome; infantile-onset multisystem inflammatory disease [-]	An autoimmune disease characterized by neonatal on..[+] An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. [-]
familial cold autoinflammatory syndrome 2	NLRP12-associated hereditary periodic fever syndro.. [+] NLRP12-associated hereditary periodic fever syndrome [-]	A familial cold autoinflammatory syndrome characte..[+] A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. [-]
PCWH syndrome	Neurologic Waardenburg-Shah syndrome; PCWH; Periph.. [+] Neurologic Waardenburg-Shah syndrome; PCWH; Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease; Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome [-]	A syndrome that is characterized by the associatio..[+] A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. [-]
dopamine beta-hydroxylase deficiency	noradrenaline deficiency; norepinephrine deficienc.. [+] noradrenaline deficiency; norepinephrine deficiency; congenital dopamine beta-hydroxylase deficiency [-]	An inherited metabolic disorder characterized by d..[+] An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. [-]
X-linked Alport syndrome	nephropathy and deafness, X-linked; ATS	An Alport syndrome that has_material_basis_in muta..[+] An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). [-]
Bartter disease type 4a	neonatal Bartter syndrome with sensorineural deafn.. [+] neonatal Bartter syndrome with sensorineural deafness; BARTS4A; Bartter syndrome type 4a; BSND [-]	A Bartter disease that has_material_basis_in homoz..[+] A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. [-]
Bartter disease type 4b	neonatal Bartter syndrome type 4B with sensorineur.. [+] neonatal Bartter syndrome type 4B with sensorineural deafness; Bartter syndrome, type 4b, digenic; BARTS4B [-]	A Bartter disease that has material basis in simul..[+] A Bartter disease that has material basis in simultaneous mutation in both the CLCNKA and CLCNKB genes. [-]
Charcot-Marie-Tooth disease type 1C	neuropathy hereditary motor and sensory type 1C; C.. [+] neuropathy hereditary motor and sensory type 1C; Charcot-Marie-Tooth neuropathy type 1C; CMT1C; HMSN IC; HMSN1C; CMT slow nerve conduction type C [-]	A Charcot-Marie-Tooth disease type 1 that has_mate..[+] A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. [-]
Charcot-Marie-Tooth disease type 4E	Neuropathy, congenital hypomyelinating, 1; autosom.. [+] Neuropathy, congenital hypomyelinating, 1; autosomal recessive congenital hypomyelinating or amyelinating neuropathy; Charcot-Marie-Tooth neuropathy type 4E; CMT4E [-]	A Charcot-Marie-Tooth disease type 4 that has_mate..[+] A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. [-]
Charcot-Marie-Tooth disease X-linked recessive 4	NADMR; NAMSD; axonal motor sensory neuropathy with.. [+] NAMSD; NADMR; axonal motor sensory neuropathy with deafness and mental retardation; Charcot-Marie-Tooth disease with deafness and mental retardation; CMTX4; Cowchock syndrome; CMT4X; COWCK; X-linked Charcot-Marie-Tooth disease type 4 [-]	A Charcot-Marie-Tooth disease X-linked that has_ma..[+] A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. [-]
dilated cardiomyopathy 1J	neurosensory hearing loss with dilated cardiomyopa.. [+] neurosensory hearing loss with dilated cardiomyopathy; neurosensory deafness with dilated cardiomyopathy; autosomal dominant dilated cardiomyopathy with sensorineural hearing loss; CMD1J; sensorineural deafness with dilated cardiomyopathy; sensorineural hearing loss with dilated cardiomyopathy [-]	A dilated cardiomyopathy that has_material_basis_i..[+] A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. [-]
autosomal recessive nonsyndromic deafness 3	NRSD3; DFNB3; autosomal recessive deafness 3, neur.. [+] NRSD3; DFNB3; autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. [-]
autosomal recessive nonsyndromic deafness 8	NRSD8; neurosensory nonsyndromic recessive deafnes.. [+] NRSD8; neurosensory nonsyndromic recessive deafness 8; autosomal recessive deafness 8; childhood-onset neurosensory autosomal recessive deafness 8; DFNB10; autosomal recessive deafness 10; DFNB8 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. [-]	2 articles
autosomal recessive nonsyndromic deafness 9	neurosensory nonsyndromic recessive deafness 9; NR.. [+] neurosensory nonsyndromic recessive deafness 9; NRSD9; autosomal recessive deafness 9; DFNB9 [-]	An autosomal recessive nonsyndromic deafness that ..[+] An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. [-]

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