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encyclopedia of Rare Disease Annotation for Precision Medicine

Weekly Disease
Disease ID: 2
Disease Name:  rett syndrome
Disease Definition: An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
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Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families

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High prevalence of rare ryanodine receptor type 1 variants in patients suffering from aneurysmatic subarachnoid hemorrhage: A pilot study

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Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish

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Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

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Renal Cell Carcinoma, Unclassified with Medullary Phenotype: Poorly-Differentiated Adenocarcinomas Overlapping with Renal Medullary Carcinoma

Title: 《Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families》

Introduction: Human autosomal recessive osteopetrosis (ARO), also known as infantile malignant osteopetrosis, is a rare genetic bone disorder that often causes death. Mutations in T-cell immune regulator 1 (TCIRG1) are a frequent cause of human ARO. In Aug 17, 2017, Xiao-ya Zhang and others published an article in << Acta Pharmacologica Sinica >> which title is“Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families”, reported five individuals with ARO from four unrelated Chinese families. They identified...

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encyclopedia of Rare Disease Annotation for Precision Medicine
Theory of Methods

Human Disease Network Approach

The human disease network is a network of human disorders and diseases with reference to their genetic origins or other features. More specifically, it is the map of human disease associations referring mostly to disease genes. More..

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eRAM Database 2.0

imgCurrently, eRAM provides computational annotations for 15,942 rare diseases, yielding a total of 6,147 human disease related phenotype terms, 31,661 mammalian phenotype terms, 10,202 symptoms from UMLS, 18,815 genes and 92,580 genotypes. eRAM can not only provide researchers new information about the mechanism of a rare disease but also facilitate clinicians to make diagnostic and therapeutic decisions towards rare diseases.

The current version of the Web : Version 2.00 eRAM is subject to periodic updates.
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Usage of eRAM

Users can retrieve the data with three methods: Display whole system, fuzzy query and exact query. To systematically display diseases and the relationship between the diseases with similar pathogenesis, close anatomical site, the same clinical symptoms or subtypes, we list the diseases in tree structure, each user can easily view the disease and its difference in others.

Various information is listed with each disease, including clinical phenotypes with importance in alphabet order and the appropriate treatment strategy, which can provide a resource for clinicians to facilitate the timely diagnosis and treatment of their patients.

To make eRAM system better serves rares community, your contribution to the eRAM system is very important to us to update and improve the rare disease annotation, clinical diagnosis and treatment, and to disseminate the related knowledge to public and the related community, which will substantially to help rare disease diagnoses and treatments. Your contribution is greatly appreciated!