Recently Added Pages
New Pages
November 26, 2019
October 15, 2019
October 1, 2019
September 10, 2019
September 3, 2019
August 20, 2019
July 9, 2019
June 11, 2019
May 28, 2019
April 30, 2019
April 2, 2019
March 19, 2019
March 12, 2019
March 5, 2019
February 26, 2019
February 19, 2019
February 12, 2019
February 5, 2019
January 29, 2019
January 15, 2019
January 8, 2019
Updated Pages
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
July 16, 2019
June 25, 2019
May 28, 2019
May 14, 2019
April 16, 2019
- Beta-propeller protein-associated neurodegeneration
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
- Dupuytren contracture
- Klinefelter syndrome
- PNP gene
- Purine nucleoside phosphorylase deficiency
April 2, 2019
March 19, 2019
March 12, 2019
March 5, 2019
- Adiposis dolorosa
- Bohring-Opitz syndrome
- DNMT3A overgrowth syndrome
- DOCK8 immunodeficiency syndrome
- DOORS syndrome
- Heterotaxy syndrome
- Hyperkalemic periodic paralysis
- Keratoderma with woolly hair
- Muenke syndrome
- PDGFRB gene
- Primary familial brain calcification
- SLC20A2 gene
- Spinal muscular atrophy with respiratory distress type 1
February 26, 2019
- ALG12-congenital disorder of glycosylation
- HAMP gene
- Hereditary hemochromatosis
- HFE gene
- HJV gene
- Ovarian cancer
- SLC40A1 gene
- Spinal muscular atrophy with lower extremity predominance
- Spinocerebellar ataxia type 3
- TFR2 gene
February 12, 2019
- Costeff syndrome
- FOXP2-related speech and language disorder
- Multiple sulfatase deficiency
- Nonbullous congenital ichthyosiform erythroderma
- OPA3 gene