Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language |
autosomal dominant mental retardation 20; MRD20; m..
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An autosomal dominant intellectual developmental d..[+]
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1 articles | |
Niemann-Pick disease type A |
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A Niemann-Pick disease characterized by onset in i..[+]
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Niemann-Pick disease type B |
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A Niemann-Pick disease characterized by visceral i..[+]
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Niemann-Pick disease type C1 |
NPC1
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A Niemann-Pick disease that has_material_basis_in ..[+]
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Niemann-Pick disease type C2 |
NPC2
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A Niemann-Pick disease that has_material_basis_in ..[+]
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neonatal-onset type II citrullinemia |
neonatal-onset type 2 citrullinemia
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A citrullinemia that is characterized by confusion..[+]
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neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies |
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A syndrome that is characterized by impaired intel..[+]
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nephrotic syndrome type 20 |
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A familial nephrotic syndrome that has_material_ba..[+]
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nevoid basal cell carcinoma syndrome 1 |
basal cell nevus syndrome 1
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A nevoid basal cell carcinoma syndrome that has_ma..[+]
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nevoid basal cell carcinoma syndrome 2 |
basal cell nevus syndrome 2
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A nevoid basal cell carcinoma syndrome that has_ma..[+]
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neurodevelopmental disorder with speech impairment and dysmorphic facies |
NEDSID
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A autosomal dominant intellectual developmental di..[+]
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neurodevelopmental disorder with spasticity and poor growth |
NEDSG
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An autosomal recessive intellectual developmental ..[+]
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North Carolina macular dystrophy |
NCMD; central areolar pigment epithelial dystrophy..
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A retinal macular dystrophy characterized by limit..[+]
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neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
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An autosomal recessive intellectual developmental ..[+]
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neurodevelopmental disorder with language delay and seizures |
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An autosomal recessive intellectual developmental ..[+]
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neurodevelopmental disorder with dysmorphic facies and thin corpus callosum |
NEDDFAC
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An autosomal dominant intellectual developmental d..[+]
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neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties |
NEDSFF
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An diphthamide deficiency syndrome characterized b..[+]
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neurodevelopmental disorder with hypotonia and speech delay |
NEDHSS
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A syndrome characterized by global developmental d..[+]
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neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities |
NEDFBA
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An autosomal dominant intellectual developmental d..[+]
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neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
NEDDFL
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An autosomal dominant intellectual developmental d..[+]
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neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures |
NEDHLSS
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An autosomal dominant intellectual developmental d..[+]
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neurodevelopmental disorder with spastic paraplegia and microcephaly |
NEDSPM; autosomal recessive mental retardation 49; ..
[+]
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An amino acid metabolic disorder characterized del..[+]
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neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities |
NEDCASB
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An mitochondrial metabolism disease characterized ..[+]
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Nagashima-type palmoplantar keratosis |
NPPK; palmoplantar keratoderma nagashima type; PPK..
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A nonepidermolytic palmoplantar keratoderma charac..[+]
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neural tube defect |
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A physical disorder characterized by incomplete cl..[+]
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19 articles | 29 matches |
Neu-Laxova syndrome 2 |
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A serine deficiency that is characterized by multi..[+]
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Neu-Laxova syndrome 1 |
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A serine deficiency that is characterized by multi..[+]
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nonsyndromic congenital nail disorder 1 |
nonsyndromic congenital nail disorder 10; twenty-n..
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 2 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 3 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 4 |
anonychia congenita; HYPONYCHIA CONGENITA
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 5 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 6 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 7 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 8 |
isolated toenail dystrophy
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A nonsyndromic congenital nail disorder that is ch..[+]
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nonsyndromic congenital nail disorder 9 |
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A nonsyndromic congenital nail disorder that is ch..[+]
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normophosphatemic familial tumoral calcinosis |
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A calcinosis that is characterized by massive peri..[+]
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nonmucinous bronchioloalveolar adenocarcinoma |
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A bronchiolo-alveolar adenocarcinoma that is chara..[+]
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nodal marginal zone lymphoma |
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A marginal zone B-cell lymphoma which morphologica..[+]
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non-syndromic X-linked intellectual disability 106 |
MRX106; X-linked mental retardation 106
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A non-syndromic X-linked intellectual disability t..[+]
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nephrotic syndrome type 14 |
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A familial nephrotic syndrome that has_material_ba..[+]
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nephrotic syndrome type 15 |
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A familial nephrotic syndrome that has_material_ba..[+]
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nephrotic syndrome type 16 |
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A familial nephrotic syndrome that has_material_ba..[+]
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neurodevelopmental disorder with midbrain and hindbrain malformations |
NEDMHM
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A syndromic intellectual disability characterized ..[+]
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1 articles | |
nephrotic syndrome type 2 |
steroid-resistant autosomal recessive nephrotic sy..
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A familial nephrotic syndrome characterized by ste..[+]
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nephrotic syndrome type 5 |
nephrotic syndrome type 5, with or without ocular ..
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A familial nephrotic syndrome characterized by pre..[+]
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nephrotic syndrome type 13 |
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A familial nephrotic syndrome characterized by ear..[+]
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nephrotic syndrome type 3 |
early onset nephrotic syndrome type 3
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A familial nephrotic syndrome characterized by ear..[+]
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nephrotic syndrome type 4 |
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A familial nephrotic syndrome that has_material_ba..[+]
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nephrotic syndrome type 6 |
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A familial nephrotic syndrome that has_material_ba..[+]
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