MCID: KTZ001
MIFTS: 8

Kotzot-Richter Syndrome

Categories: Rare diseases, Blood diseases, Immune diseases

Aliases & Classifications for Kotzot-Richter Syndrome

MalaCards integrated aliases for Kotzot-Richter Syndrome:

Name: Kotzot-Richter Syndrome 49 69
Oculocutaneous Albinism, Immunodeficiency, Hematological Disorders, and Minor Anomalies 49
Albinism with Immune and Hematologic Defects 49

Classifications:



External Ids:

UMLS 69 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 oculocutaneous albinism and albinism.

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 oculocutaneous albinism 10.2
2 albinism 10.2
3 albinism immunodeficiency 10.2

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 Year
1
Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? ( 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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