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Disease	Synonyms	Description
otospondylomegaepiphyseal dysplasia	NANCE-SWEENEY CHONDRODYSPLASIA; NANCE-INSLEY SYNDR.. [+] NANCE-SWEENEY CHONDRODYSPLASIA; NANCE-INSLEY SYNDROME; CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS [-]	An osteochondrodysplasia that results from mutatio..[+] An osteochondrodysplasia that results from 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. [-]
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 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 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. [-]
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. [-]
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; infantile-onset multisystem inflammatory disease; IOMID syndrome; Prieur-Griscelli syndrome [-]	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 [-]	neonatal hypotonia, intellectual deficit (of varia..[+] An autosomal dominant disease 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 that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. [-]
dopamine beta-hydroxylase deficiency	norepinephrine deficiency; noradrenaline deficienc.. [+] norepinephrine deficiency; noradrenaline 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 homozygous or compound heterozygous mutation in the DBH gene on chromosome 9q34. [-]
X-linked Alport syndrome	nephropathy and deafness, X-linked; ATS	An Alport syndrome that has_material -basis_in mut..[+] 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; BARTS4B; Bartter syndrome, type 4b, digenic [-]	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; CMT slow nerve conduction type C; CMT1C; HMSN IC; HMSN1C [-]	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; CMT4X; CMTX4; Cowchock syndrome; 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; autosomal recessive deafness 3, neurosensor.. [+] NRSD3; autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3; DFNB3 [-]	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 10; autosomal recessive deafness 8; childhood-onset neurosensory autosomal recessive deafness 8; DFNB10; 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. [-]
autosomal recessive nonsyndromic deafness 9	NRSD9; neurosensory nonsyndromic recessive deafnes.. [+] NRSD9; neurosensory nonsyndromic recessive deafness 9; 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 11; autosomal recessive spastic paraplegia complicated with thin corpus callosum; autosomal recessive spastic paraplegia type 11; 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; autosomal recessive spastic paraplegia type 39; spastic paraplegia due to neuropathy target esterase mutation; spastic paraplegia due to NTE mutation; SPG39 [-]	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; complete CSNB X-linked; congenital stationar.. [+] NBMI; complete CSNB X-linked; congenital stationary night blindness 1A X-linked; congenital stationary night blindness with myopia; CSNB1A; hemeralopia-myopia; myopia-night blindness [-]	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. [-]
mucopolysaccharidosis type IIID	N-acetylglucosamine-6-sulfatase deficiency; GNS de.. [+] N-acetylglucosamine-6-sulfatase deficiency; GNS deficiency; MPS IIID; MPS3D; Mucopolysaccharidosis type 3D; Sanfilippo syndrome D; 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. [-]
linear nevus sebaceous syndrome	nevus sebaceus syndrome; nevus sebaceus of Jadasso.. [+] nevus sebaceus syndrome; nevus sebaceus of Jadassohn; Jadassohn nevus phakomatosis; JNP; organoid nevus phakomatosis; organoid nevus syndrome; Schimmelpenning Feuerstein Mims syndrome; Schimmelpenning syndrome; SFM syndrome; Solomon 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. [-]
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; dilated cardiomyopathy with premature ovarian failure; genital anomaly with cardiomyopathy; Malouf syndrome [-]	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. [-]
congenital nystagmus 2	NYS2; autosomal dominant congenital nystagmus 2; c.. [+] NYS2; autosomal dominant congenital nystagmus 2; congenital motor nystagmus 2 [-]	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. [-]
congenital nystagmus 5	NYS5; X-linked congenital nystagmus 5	A congenital nystagmus that has_material_basis_in ..[+] A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. [-]
Mullegama-Klein-Martinez syndrome	NEDXCF; MKMS; X-linked neurodevelopmental disorder.. [+] NEDXCF; MKMS; X-linked neurodevelopmental disorder with craniofacial abnormalities [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. [-]
Schindler disease type 3	NAGA deficiency type 3; alpha-N-acetylgalactosamin.. [+] NAGA deficiency type 3; alpha-N-acetylgalactosaminidase deficiency type 3 [-]	A Schindler disease characterized by mild to moder..[+] A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. [-]

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