Updated Pages
February 27, 2018
- 47,XYY syndrome
- Hereditary leiomyomatosis and renal cell cancer
- Microcephalic osteodysplastic primordial dwarfism type II
February 20, 2018
- Abetalipoproteinemia
- Arrhythmogenic right ventricular cardiomyopathy
- Epidermolysis bullosa with pyloric atresia
- MTTP gene
- Oculopharyngeal muscular dystrophy
- PABPN1 gene
- PCCA gene
- PCCB gene
- PKP2 gene
- Propionic acidemia
- Schizophrenia
February 13, 2018
- Periventricular heterotopia
- Progressive osseous heteroplasia
- Very long-chain acyl-CoA dehydrogenase deficiency
February 6, 2018
- DVL1 gene
- Glycogen storage disease type VI
- Hashimoto thyroiditis
- Pelizaeus-Merzbacher disease
- Peroxisomal acyl-CoA oxidase deficiency
- PLP1 gene
- Robinow syndrome
- ROR2 gene
- WNT5A gene
January 30, 2018
January 23, 2018
- HSD10 disease
- HSD17B10 gene
- KBG syndrome
- PPM-X syndrome
- Pulmonary alveolar microlithiasis
- SLC34A2 gene
- TRAPPC2 gene
- X-linked spondyloepiphyseal dysplasia tarda
January 9, 2018
January 2, 2018
December 29, 2017
December 19, 2017
December 12, 2017
December 5, 2017
- ADAMTS2 gene
- Aicardi-Goutières syndrome
- ARX gene
- ATG16L1 gene
- Camurati-Engelmann disease
- CDKL5 gene
- COL1A1 gene
- COL1A2 gene
- COL3A1 gene
- COL5A1 gene
- COL5A2 gene
- Crohn disease
- Early infantile epileptic encephalopathy 1
- Ehlers-Danlos syndrome
- IL23R gene
- IRGM gene
- NOD2 gene
- PLOD1 gene
- RNASEH2A gene
- RNASEH2B gene
- RNASEH2C gene
- SAMHD1 gene
- TGFB1 gene
- TNXB gene
- TREX1 gene
November 28, 2017
November 21, 2017
November 7, 2017
October 24, 2017
- Aarskog-Scott syndrome
- Atopic dermatitis
- Chromosome 17
- FGD1 gene
- FLG gene
- Moyamoya disease
- Ornithine transcarbamylase deficiency
- RAI1 gene
- Smith-Magenis syndrome
October 17, 2017
- 9q22.3 microdeletion
- BRAF gene
- Distal arthrogryposis type 1
- Familial atrial fibrillation
- Langerhans cell histiocytosis
- Mitochondrial DNA
- Myoclonus-dystonia
- Ménière disease
- Phenylketonuria
- SGCE gene
- Turner syndrome
October 10, 2017
- 48,XXYY syndrome
- Hypermanganesemia with dystonia
- SLC30A10 gene
- Sporadic hemiplegic migraine
- Sézary syndrome
October 3, 2017
- Chorea-acanthocytosis
- Cyclic neutropenia
- Hypokalemic periodic paralysis
- Severe congenital neutropenia
September 12, 2017
- CDC73 gene
- DNMT3A gene
- FH gene
- Fumarase deficiency
- Jervell and Lange-Nielsen syndrome
- KCNE1 gene
- KCNQ1 gene
September 5, 2017
August 29, 2017
- Cleidocranial dysplasia
- Dowling-Degos disease
- Familial paroxysmal nonkinesigenic dyskinesia
- KRT5 gene
- Nager syndrome
- PNKD gene
- RUNX2 gene
August 22, 2017
- Chromosome 3
- Chromosome 16
- ETHE1 gene
- Ethylmalonic encephalopathy
- OPA1 gene
- Optic atrophy type 1
- PC gene
- Pyruvate carboxylase deficiency
August 15, 2017
August 2, 2017
- ADCY5-related dyskinesia
- BCKDHA gene
- BCKDHB gene
- CDH1 gene
- DBT gene
- Joubert syndrome
- KCNJ5 gene
- Maple syrup urine disease
- RMRP gene
July 25, 2017
July 18, 2017
July 11, 2017
- ABCA12 gene
- ALOX12B gene
- ALOXE3 gene
- Nonbullous congenital ichthyosiform erythroderma
- Surfactant dysfunction
July 5, 2017
- Alpha thalassemia
- ARID1B gene
- CHD2 gene
- Chromosome 8
- Dentinogenesis imperfecta
- EXT1 gene
- RAD21 gene
- SHANK3 gene
- SYNGAP1 gene
- Trichorhinophalangeal syndrome type II
- TRPS1 gene
June 27, 2017
- Behçet disease
- Immune thrombocytopenia
- Megalencephaly-capillary malformation syndrome
- MYBPC3 gene
- MYH7 gene
- Sézary syndrome
- Wolff-Parkinson-White syndrome
June 20, 2017
June 13, 2017
- Cohen syndrome
- DNMT1 gene
- EMD gene
- Emery-Dreifuss muscular dystrophy
- Hereditary sensory and autonomic neuropathy type IE
- LMNA gene
- Myhre syndrome
- Retinoblastoma
- SMAD4 gene
- VPS13B gene
May 30, 2017
May 23, 2017
May 16, 2017
- CARD14 gene
- FOXP3 gene
- Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
- KCNH2 gene
- KCNQ1 gene
- Romano-Ward syndrome
- SCN5A gene
May 9, 2017
- G6PD gene
- Glucose-6-phosphate dehydrogenase deficiency
- Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Mayer-Rokitansky-Küster-Hauser syndrome
May 2, 2017
- Familial dilated cardiomyopathy
- Hereditary sensory and autonomic neuropathy type II
- RETREG1 gene
- WNK1 gene
April 25, 2017
April 18, 2017
April 11, 2017
April 4, 2017
March 28, 2017
- Crouzon syndrome with acanthosis nigricans
- FGFR3 gene
- Frontotemporal dementia with parkinsonism-17
- Mucopolysaccharidosis type III
- Multiple endocrine neoplasia
March 21, 2017
- Loeys-Dietz syndrome
- MECP2 duplication syndrome
- MECP2 gene
- SMAD3 gene
- TGFB2 gene
- TGFBR1 gene
- TGFBR2 gene
- Tubular aggregate myopathy
March 14, 2017
March 7, 2017
- 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
- Anhidrotic ectodermal dysplasia with immune deficiency
- Chromosome 2
- Cutis laxa
- Tuberous sclerosis complex
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