MCID: KTZ001
MIFTS: 8

Kotzot-Richter Syndrome

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for Kotzot-Richter Syndrome

MalaCards integrated aliases for Kotzot-Richter Syndrome:

Name: Kotzot-Richter Syndrome 52 71
Oculocutaneous Albinism, Immunodeficiency, Hematological Disorders, and Minor Anomalies 52
Albinism with Immune and Hematologic Defects 52

Classifications:



External Ids:

UMLS 71 C2931399

Summaries for Kotzot-Richter Syndrome

MalaCards based summary : Kotzot-Richter Syndrome, also known as oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies, is related to chediak-higashi syndrome and immune deficiency disease.

Related Diseases for Kotzot-Richter Syndrome

Diseases related to Kotzot-Richter Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 chediak-higashi syndrome 10.3
2 immune deficiency disease 10.3
3 hermansky-pudlak syndrome 2 10.3
4 oculocutaneous albinism 10.3
5 bacterial infectious disease 10.3
6 microcephaly 10.3
7 hermansky-pudlak syndrome 10.3
8 albinism 10.3
9 granulocytopenia 10.3

Graphical network of the top 20 diseases related to Kotzot-Richter Syndrome:



Diseases related to Kotzot-Richter Syndrome

Symptoms & Phenotypes for Kotzot-Richter Syndrome

Drugs & Therapeutics for Kotzot-Richter Syndrome

Search Clinical Trials , NIH Clinical Center for Kotzot-Richter Syndrome

Genetic Tests for Kotzot-Richter Syndrome

Anatomical Context for Kotzot-Richter Syndrome

Publications for Kotzot-Richter Syndrome

Articles related to Kotzot-Richter Syndrome:

# Title Authors PMID Year
1
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? 61
8042664 1994

Variations for Kotzot-Richter Syndrome

Expression for Kotzot-Richter Syndrome

Search GEO for disease gene expression data for Kotzot-Richter Syndrome.

Pathways for Kotzot-Richter Syndrome

GO Terms for Kotzot-Richter Syndrome

Sources for Kotzot-Richter Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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