immunodeficiency-centromeric instability-facial anomalies syndrome
autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases
Press Enter · cited answer in seconds
0 sources
immunodeficiency-centromeric instability-facial anomalies syndrome
Summary
immunodeficiency-centromeric instability-facial anomalies syndrome is a class of disease[1].
Key Facts
- immunodeficiency-centromeric instability-facial anomalies syndrome's instance of is recorded as class of disease[2].
- immunodeficiency-centromeric instability-facial anomalies syndrome's subclass of is recorded as autosomal recessive disease[3].
- immunodeficiency-centromeric instability-facial anomalies syndrome's subclass of is recorded as DNA repair defect other than combined T-cell and B-cell immunodeficiencies[4].
- immunodeficiency-centromeric instability-facial anomalies syndrome's subclass of is recorded as syndrome[5].
- immunodeficiency-centromeric instability-facial anomalies syndrome's KEGG ID is recorded as H02308[6].
- immunodeficiency-centromeric instability-facial anomalies syndrome's Disease Ontology ID is recorded as DOID:0090007[7].
- immunodeficiency-centromeric instability-facial anomalies syndrome's Orphanet ID is recorded as 2268[8].
- immunodeficiency-centromeric instability-facial anomalies syndrome's genetic association is recorded as DNMT3B[9].
- immunodeficiency-centromeric instability-facial anomalies syndrome's genetic association is recorded as ZBTB24[10].
- immunodeficiency-centromeric instability-facial anomalies syndrome's genetic association is recorded as HELLS[11].
- immunodeficiency-centromeric instability-facial anomalies syndrome's genetic association is recorded as CDCA7[12].
- immunodeficiency-centromeric instability-facial anomalies syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0090007[13].
- immunodeficiency-centromeric instability-facial anomalies syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0090007[14].
- immunodeficiency-centromeric instability-facial anomalies syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2268[15].
- immunodeficiency-centromeric instability-facial anomalies syndrome's ICD-10-CM is recorded as D84.8[16].
- immunodeficiency-centromeric instability-facial anomalies syndrome's GARD rare disease ID is recorded as 2945[17].
- immunodeficiency-centromeric instability-facial anomalies syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].