Updated Pages
July 7, 2020
- ACAT1 gene
- Beare-Stevenson cutis gyrata syndrome
- Beta-ketothiolase deficiency
- Down syndrome
- FGFR2 gene
- Neurofibromatosis type 1
- Osteogenesis imperfecta
- Tuberous sclerosis complex
- X-linked severe combined immunodeficiency
June 23, 2020
June 9, 2020
- Atelosteogenesis type 2
- Diastrophic dysplasia
- Li-Fraumeni syndrome
- SALL1 gene
- SLC26A2 gene
- Townes-Brocks Syndrome
May 26, 2020
- ADAMTS13 gene
- Age-related macular degeneration
- AMT gene
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- BRCA1 gene
- BRCA2 gene
- Cholangiocarcinoma
- GLDC gene
- HLCS gene
- Holocarboxylase synthetase deficiency
- Nonketotic hyperglycinemia
- RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
- Thrombotic thrombocytopenic purpura
May 12, 2020
- Central core disease
- Chromosome 7
- Glucose-galactose malabsorption
- Loeys-Dietz syndrome
- Multiminicore disease
- Prader-Willi syndrome
- Saethre-Chotzen syndrome
- SELENON gene
- SLC5A1 gene
- TWIST1 gene
April 28, 2020
- Breast cancer
- Cerebral cavernous malformation
- EPCAM gene
- Lynch syndrome
- MLH1 gene
- MSH2 gene
- MSH6 gene
- PMS2 gene
April 15, 2020
- FMR1 gene
- Fragile X-associated primary ovarian insufficiency
- Fragile X-associated tremor/ataxia syndrome
- Fragile X syndrome
- GRN gene
- GRN-related frontotemporal lobar degeneration
- Junctional epidermolysis bullosa
March 31, 2020
- CACNA1S gene
- Hypokalemic periodic paralysis
- Malignant hyperthermia
- NDP gene
- Norrie disease
- RYR1 gene
March 17, 2020
- Argininosuccinic aciduria
- ASL gene
- Cherubism
- Cri-du-chat syndrome
- Isovaleric acidemia
- IVD gene
- SBDS gene
- SH3BP2 gene
- Shwachman-Diamond syndrome
- Usher syndrome
March 3, 2020
- Bladder cancer
- CACNA1C gene
- Chorea-acanthocytosis
- CLCN1 gene
- CLN3 disease
- CLN3 gene
- FGFR3 gene
- KDM6A gene
- Myotonia congenita
- PIK3CA gene
- Timothy syndrome
- TP53 gene
February 11, 2020
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- CDKL5 deficiency disorder
- CDKL5 gene
- Chromosome 16
- COL7A1 gene
- CREBBP gene
- Crouzon syndrome
- DHCR7 gene
- Dystrophic epidermolysis bullosa
- EP300 gene
- FGFR2 gene
- Hereditary hemorrhagic telangiectasia
- Mucopolysaccharidosis type III
- Myhre syndrome
- Primary familial brain calcification
- Rubinstein-Taybi syndrome
- SACS gene
- SMAD4 gene
- Smith-Lemli-Opitz syndrome
January 21, 2020
- 22q13.3 deletion syndrome
- APOB gene
- Bernard-Soulier syndrome
- Costello syndrome
- Familial hypercholesterolemia
- LDLR gene
- LDLRAP1 gene
- PCSK9 gene
- Polycystic ovary syndrome
January 7, 2020
- 22q11.2 deletion syndrome
- Acute necrotizing encephalopathy type 1
- Acute promyelocytic leukemia
- Age-related macular degeneration
- Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
- Blau syndrome
- Congenital diaphragmatic hernia
- FLNA gene
- Gorlin syndrome
- Li-Fraumeni syndrome
- Spinocerebellar ataxia type 2
- Wiskott-Aldrich syndrome
December 10, 2019
- Axenfeld-Rieger syndrome
- Cerebral folate transport deficiency
- COL1A1 gene
- COL1A2 gene
- Fabry disease
- Menkes syndrome
- Osteogenesis imperfecta
- Stevens-Johnson syndrome/toxic epidermal necrolysis
November 26, 2019
November 12, 2019
October 29, 2019
October 1, 2019
- Adult polyglucosan body disease
- Chromosome 10
- Congenital central hypoventilation syndrome
- Glutaric acidemia type I
- Limb-girdle muscular dystrophy
- Mitochondrial trifunctional protein deficiency
- Miyoshi myopathy
- MTHFR gene
- PHOX2B gene
- Spina bifida
August 20, 2019
- Apert syndrome
- Autosomal dominant hyper-IgE syndrome
- DOCK8 gene
- DOCK8 immunodeficiency syndrome
- FGFR2 gene
- MT-ATP6 gene
- Neuropathy, ataxia, and retinitis pigmentosa
- Ornithine translocase deficiency
- Schinzel-Giedion syndrome
- SETBP1 gene
- SLC25A15 gene
- STAT3 gene
August 6, 2019
- Catecholaminergic polymorphic ventricular tachycardia
- COL17A1 gene
- Familial restrictive cardiomyopathy
- Junctional epidermolysis bullosa
- LAMA3 gene
- LAMB3 gene
- LAMC2 gene
- N-acetylglutamate synthase deficiency
- NAGS gene
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