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Disease	Synonyms	Description	Articles
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. [-]
congenital stationary night blindness autosomal dominant 3	Nougaret type congenital stationary night blindnes.. [+] Nougaret type congenital stationary night blindness; CSNBAD3 [-]	A congenital stationary night blindness characteri..[+] A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. [-]
hereditary spastic paraplegia 11	Nakamura-Osame syndrome; autosomal recessive spast.. [+] Nakamura-Osame syndrome; autosomal recessive spastic paraplegia type 11; autosomal recessive spastic paraplegia 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum; HSP-TCC; spastic paraplegia-intellectual disability-thin corpus callosum syndrome; SPG11 [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. [-]
hereditary spastic paraplegia 39	NTE-related motor neuron disorder; NTEMND; autosom.. [+] NTEMND; NTE-related motor neuron disorder; autosomal recessive spastic paraplegia 39; spastic paraplegia due to neuropathy target esterase mutation; SPG39; autosomal recessive spastic paraplegia type 39; spastic paraplegia due to NTE mutation [-]	A hereditary spastic paraplegia that has_material_..[+] A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. [-]
congenital stationary night blindness 1A	NBMI; congenital stationary night blindness 1A X-l.. [+] NBMI; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; myopia-night blindness; complete CSNB X-linked; hemeralopia-myopia [-]	A congenital stationary night blindness that has_m..[+] A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. [-]
postural orthostatic tachycardia syndrome	neurocirculatory asthenia; familial orthostatic ta.. [+] neurocirculatory asthenia; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; postural tachycardia syndrome due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
epidermal nevus	nonepidermolytic keratinocytic nevus	A skin disease characterized by localized epiderma..[+] A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. [-]
vestibular schwannomatosis	neurofibromatosis 2; NF2-related schwannomatosis; .. [+] NF2-related schwannomatosis; neurofibromatosis 2; neurofibromatosis type II; NF2; ACN; bilateral acoustic neurinoma; bilateral acoustic schwannomas; central neurofibromatosis; familial acoustic neuromas; BANF; bilateral acoustic neurofibromatosis; acoustic neurofibromatosis; schwannomatosis 3; SWN3; SWNV [-]	A schwannomatosis characterized by bilateral vesti..[+] A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. [-]
primary failure of tooth eruption	nonsyndromic primary failure of eruption; dental n.. [+] nonsyndromic primary failure of eruption; dental noneruption; familial posterior openbite malocclusion; PFE; primary retention of teeth; unerupted second primary molar [-]	A tooth disease characterized by incomplete tooth ..[+] A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
mucopolysaccharidosis type IIIB	NAGLU deficiency; N-acetyl-alpha-glucosaminidase d.. [+] NAGLU deficiency; N-acetyl-alpha-glucosaminidase deficiency; MPS3B; MPSIIIB; Mucopolysaccharidosis type 3B; mucopolysaccharidosis type IIIB (Sanfilippo B); Sanfilippo syndrome type B; Mucopoly-saccharidosis type 3B [-]	A mucopolysaccharidosis III characterized by neuro..[+] A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. [-]
mucopolysaccharidosis type IIID	N-acetylglucosamine-6-sulfatase deficiency; GNS de.. [+] N-acetylglucosamine-6-sulfatase deficiency; GNS deficiency; MPS IIID; Sanfilippo syndrome D; Mucopolysaccharidosis type 3D; MPS3D; Sanfilippo syndrome type D [-]	A mucopolysaccharidosis III that has_material_basi..[+] A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. [-]
progressive myoclonus epilepsy 3	neuronal ceroid lipofuscinosis 14; CLN14 disease; .. [+] neuronal ceroid lipofuscinosis 14; CLN14 disease; PME type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; Progressive myoclonus epilepsy type 3; EPM3 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. [-]
progressive myoclonus epilepsy 6	North Sea progressive myoclonus epilepsy; EPM6; GO.. [+] North Sea progressive myoclonus epilepsy; EPM6; GOSR2-related progressive myoclonus ataxia; PME type 6; Progressive myoclonus epilepsy type 6 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. [-]
combined oxidative phosphorylation deficiency 28	neonatal severe cardiopulmonary failure due to mit.. [+] neonatal severe cardiopulmonary failure due to mitochondrial methylation defect; COXPD28 [-]	A combined oxidative phosphorylation deficiency th..[+] A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. [-]
linear nevus sebaceous syndrome	nevus sebaceus of Jadassohn; nevus sebaceus syndro.. [+] nevus sebaceus of Jadassohn; nevus sebaceus syndrome; Nevus sebaceus of Jadassohn; Jadassohn nevus phakomatosis; organoid nevus phakomatosis; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome; JNP; Schimmelpenning Feuerstein Mims syndrome; organoid nevus syndrome [-]	A syndrome characterized by sebaceous nevi typical..[+] A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. [-]
scapuloperoneal spinal muscular atrophy	neurogenic scapuloperoneal amyotrophy, New England.. [+] neurogenic scapuloperoneal amyotrophy, New England type; scapuloperoneal neuronopathy; SPSMA [-]	A motor neuron disease characterized by progressiv..[+] A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. [-]
dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	Najjar syndrome; cardiogenital syndrome; cardiomyo.. [+] Najjar syndrome; cardiogenital syndrome; cardiomyopathy eith primary testicular failure; congestive cardiomyopathy with hypergonadotropic hypogonadism; dilated cardiomyopathy with hypergonadotropic hypogonadism; Malouf syndrome; dilated cardiomyopathy with premature ovarian failure; genital anomaly with cardiomyopathy [-]	A syndrome characterized by dilated cardiomyopathy..[+] A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. [-]
D-glyceric aciduria	non ketotic hyperglycinemia syndrome; D-glycerate .. [+] non ketotic hyperglycinemia syndrome; D-glycerate kinase deficiency; D-glyceric acidemia; D-glycericacidemia; deficiency of glycerate kinase [-]	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. [-]
X-linked deafness 4	nonsyndromic sensorineural progressive deafness 6; .. [+] nonsyndromic sensorineural progressive deafness 6; DFN6; DFNX4; X-linked progressive deafness 6 [-]	An X-linked nonsyndromic deafness characterized by..[+] An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. [-]

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