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This is an online repository of genetic disorders in the Israeli population. The data is obtained mostly from publications in the medical literature as well as from some unpublished observations contributed from individual clinicians. This database intends to include all recessive Mendelian disorders and dominant/ X linked Mendelian disorders that are either relatively frequent or have a specific mutation reported at an increased frequency.

Efforts are made to ensure that the Israeli National Genetic Database is accurate and up-to-date. Nevertheless, there may be omissions and error; thus, the data should be used with caution.

Your feedback is highly requested. Comments and suggestions will help improve this database for everyone.

This project is dedicated to the memory of the late Professor Richard M Goodman whose publications, specifically his book on genetic disorders among Jews, were an inspiration.

Hints for Searching and Reading the Results

The names of disorders and genes are listed as seen in OMIM. In order to facilitate the search of diseases there is also an option to free text search. In some cases, there is not yet an OMIM entry and a provisional number was given.

Jews are classified according their country of origin before their migration to Israel. The largest groups are the Ashkenazi Jews who originated from Eastern and Central Europe. The Muslim Arabs are categorized as either Muslims or Bedouins (when the distinction is known).
'Palestinian' designates Palestinian Arabs from the Palestinian Authority or Palestinian Arabs reported without data on the exact origin.

The search according to ethnic groups does not include Ashkenazi Jews or Muslim Arabs.

Most of the Arab and Druze population are living in villages, small towns with a strong tradition of marriages within the family. The origin of some of the patients is known and available in Search + (using a specific 'user name' and 'password')

Number of chromosomes column​

The number of alleles was calculated in the independent patients who are known and reported. In cases in which there are more than two non-related patients reported, the mutation is assumed to be a founder mutation. For Ashkenazi Jews the frequency in gnomAD browser was also taken into consideration in classifying the mutations.

Carrier frequency column

The frequency is listed in a percent. It is calculated from a random sample of individuals from the ethnic group or from the Ashkenazi Jewish population according to the data in gnomAD (noted with an asterisk).

In certain cases, such as the the Israeli Arabs or the Druze, the mutation(s) is limited to either one or two villages, a tribe or a region. Thus, the number indicated represents the frequency of the mutation in the particular village/tribe/region. ​


When available the PubMed link is given. 
'p.c.' denotes personal communication; details may be available by contacting the coordinator


Varsome; if a link to Clinvar exists, it is available in the Varsome database.

Joël Zlotogora MD, PhD ( or



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