MCID: KTZ001
MIFTS: 8

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 53 73
Oculocutaneous Albinism, Immunodeficiency, Hematological Disorders, and Minor Anomalies 53
Albinism with Immune and Hematologic Defects 53

Classifications:



External Ids:

UMLS 73 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

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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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