Phenotypes for disease #01783 (FRBRL (Farber lipogranulomatosis), OMIM:228000)

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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000060590 Farber lipogranulomatosis (OMIM:228000) - - Familial, autosomal recessive - - - - - Daniel Trujillano 00081021
0000352769 see paper; ..., severe; 22m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; developmental delay, no seizures Farber lipogranulomatosis FRBRL Familial, autosomal recessive - - - - - Johan den Dunnen 00301342
0000352770 see paper; ..., severe; 31m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; hepatosplenomegaly; normal fundus; developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 29m 4m - - Mohamed A. Elmonem 00467560
0000352771 see paper; ..., moderate; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 21m 12m - - Mohamed A. Elmonem 00467561
0000352772 see paper; ..., moderate; hoarseness of voice; joint pain, no joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 28m 3m - - Mohamed A. Elmonem 00467562
0000352773 see paper; ..., severe; 34m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; palpable liver; normal fundus; developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 23m 8m - - Mohamed A. Elmonem 00467563
0000352774 see paper; ..., moderate; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 17m 6m - - Mohamed A. Elmonem 00467564
0000352775 see paper; ..., severe; 22m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 13m 6m - - Mohamed A. Elmonem 00467565
0000352776 see paper; ..., severe; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 21m 3m - - Mohamed A. Elmonem 00467566
0000352777 see paper; ..., severe; 31m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; no developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 23m 9m - - Mohamed A. Elmonem 00467567
0000352778 see paper; ..., severe; 27m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; palpable liver; normal fundus; developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 24m 6m - - Mohamed A. Elmonem 00467568
0000352779 see paper; ..., severe; 3y-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures Farber disease FRBRL Familial, autosomal recessive - 19m 6m - - Mohamed A. Elmonem 00467569
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