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Disease	Synonyms	Description	Articles	Phenotypes
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	autosomal dominant mental retardation 20; MRD20; m.. [+] autosomal dominant mental retardation 20; MRD20; mental retardation, autosomal dominant 20 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. [-]	1 articles
Niemann-Pick disease type A		A Niemann-Pick disease characterized by onset in i..[+] A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. [-]
Niemann-Pick disease type B		A Niemann-Pick disease characterized by visceral i..[+] A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. [-]
Niemann-Pick disease type C1	NPC1	A Niemann-Pick disease that has_material_basis_in ..[+] A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. [-]
Niemann-Pick disease type C2	NPC2	A Niemann-Pick disease that has_material_basis_in ..[+] A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. [-]
neonatal-onset type II citrullinemia	neonatal-onset type 2 citrullinemia	A citrullinemia that is characterized by confusion..[+] A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. [-]
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		A syndrome that is characterized by impaired intel..[+] A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. [-]
nephrotic syndrome type 20		A familial nephrotic syndrome that has_material_ba..[+] A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. [-]
nevoid basal cell carcinoma syndrome 1	basal cell nevus syndrome 1	A nevoid basal cell carcinoma syndrome that has_ma..[+] A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. [-]
nevoid basal cell carcinoma syndrome 2	basal cell nevus syndrome 2	A nevoid basal cell carcinoma syndrome that has_ma..[+] A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. [-]
neurodevelopmental disorder with speech impairment and dysmorphic facies	NEDSID	A autosomal dominant intellectual developmental di..[+] A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. [-]
neurodevelopmental disorder with spasticity and poor growth	NEDSG	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. [-]
North Carolina macular dystrophy	NCMD; central areolar pigment epithelial dystrophy.. [+] NCMD; central areolar pigment epithelial dystrophy; central retinal pigment epithelial dystrophy; MCDR1; progressive foveal dystrophy; retinal macular dystrophy 1 [-]	A retinal macular dystrophy characterized by limit..[+] A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. [-]
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. [-]
neurodevelopmental disorder with language delay and seizures		An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. [-]
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum	NEDDFAC	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. [-]
neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	NEDSFF	An diphthamide deficiency syndrome characterized b..[+] An diphthamide deficiency syndrome characterized by feeding difficulties, difficulty walking, and absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. [-]
neurodevelopmental disorder with hypotonia and speech delay	NEDHSS	A syndrome characterized by global developmental d..[+] A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. [-]
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities	NEDFBA	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. [-]
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	NEDDFL	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. [-]
neural tube defect		A physical disorder characterized by incomplete cl..[+] A physical disorder characterized by incomplete closure of the neural tube. [-]	18 articles	29 matches
Neu-Laxova syndrome 2		n_a
Neu-Laxova syndrome 1		n_a
nonsyndromic congenital nail disorder 1	nonsyndromic congenital nail disorder 10; twenty-n.. [+] nonsyndromic congenital nail disorder 10; twenty-nail dystrophy [-]	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. [-]
nonsyndromic congenital nail disorder 2		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. [-]
nonsyndromic congenital nail disorder 3		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. [-]
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. [-]
nonsyndromic congenital nail disorder 5		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. [-]
nonsyndromic congenital nail disorder 6		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. [-]
nonsyndromic congenital nail disorder 7		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins. [-]
nonsyndromic congenital nail disorder 8	isolated toenail dystrophy	A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. [-]
nonsyndromic congenital nail disorder 9		A nonsyndromic congenital nail disorder that is ch..[+] A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. [-]
normophosphatemic familial tumoral calcinosis		A calcinosis that is characterized by massive peri..[+] A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. [-]
nonmucinous bronchioloalveolar adenocarcinoma		A bronchiolo-alveolar adenocarcinoma that is chara..[+] A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. [-]
nodal marginal zone lymphoma		A marginal zone B-cell lymphoma which morphologica..[+] A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. [-]
non-syndromic X-linked intellectual disability 106	MRX106; X-linked mental retardation 106	A non-syndromic X-linked intellectual disability t..[+] A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. [-]
neurodevelopmental disorder with midbrain and hindbrain malformations	NEDMHM	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. [-]
nephrotic syndrome type 7	nephrotic syndrome type 7 with membranoptoliferati.. [+] nephrotic syndrome type 7 with membranoptoliferative glomerulonephritis; Ig-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; immunoglobulin-mediated membranoproliferative glomerulonephritis; Immunoglobulin-mediated MPGN [-]	A familial nephrotic syndrome characterized by ons..[+] A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. [-]
nephrotic syndrome type 1	Finnish congenital nephrosis	A familial nephrotic syndrome characterized by pre..[+] A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. [-]
nephrotic syndrome type 17		A familial nephrotic syndrome that has_material_ba..[+] A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. [-]
non-alcoholic fatty liver	nonalcoholic fatty liver; NAFL	A metabolic dysfunction-associated steatotic liver..[+] A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning. [-]
Noonan syndrome with multiple lentigines 2	LEOPARD syndrome 2	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. [-]
Noonan syndrome with multiple lentigines 3	LEOPARD syndrome 3	A Noonan syndrome with multiple lentigines that ha..[+] A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. [-]
Naxos disease		A nonepidermolytic palmoplantar keratoderma that i..[+] A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. [-]
nephroma	benign nephroma	A kidney benign neoplasm that is located_in the ki..[+] A kidney benign neoplasm that is located_in the kidney cortex. [-]
nanophthalmos		A microphthalmia that is characterized by a small ..[+] A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. [-]
nonsyndromic aplasia cutis congenita	nonsyndromic aplasia cutis congenita	A skin disease characterized by localized areas of..[+] A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. [-]
neuronal intestinal dysplasia type A		An intestinal pseudo-obstruction that is character..[+] An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. [-]
neuronal intestinal dysplasia type B		An intestinal pseudo-obstruction that is affects t..[+] An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. [-]
nonsyndromic congenital nail disorder		A nail disease that is characterized by underdevel..[+] A nail disease that is characterized by underdevelopment of nails. [-]

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