MCID: KTZ001
MIFTS: 6

Kotzot-Richter Syndrome

Categories: Rare diseases, Immune diseases, Blood diseases

Aliases & Classifications for Kotzot-Richter Syndrome

MalaCards integrated aliases for Kotzot-Richter Syndrome:

Name: Kotzot-Richter Syndrome 50 69
Oculocutaneous Albinism, Immunodeficiency, Hematological Disorders, and Minor Anomalies 50
Albinism with Immune and Hematologic Defects 50

Classifications:



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:

id 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

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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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