Entry Search - 300367 305371 314050 - OMIM
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Search: '300367 305371 314050 (Search in: MIM number)'
Results: 3 entries.

1:
* 305371. GATA-BINDING PROTEIN 1; GATA1
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:48,786,590-48,794,311
Matching terms: 305371
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xp11.23 Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835 XLR 3
Hemolytic anemia due to elevated adenosine deaminase 301083 XLR 3
Leukemia, megakaryoblastic, with or without Down syndrome, somatic 159595 3
Thrombocytopenia with beta-thalassemia, X-linked 314050 XLR 3
Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 XLR 3
ICD+
SNOMEDCT: 718196002

2:
# 300367. THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
Cytogenetic location: Xp11.23
Matching terms: 300367
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xp11.23 Thrombocytopenia, X-linked, with or without dyserythropoietic anemia 300367 XLR 3 GATA1 305371
ICD+
ORPHA: 67044
DO: 1588

3:
# 314050. THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT
Cytogenetic location: Xp11.23
Matching terms: 314050
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xp11.23 Thrombocytopenia with beta-thalassemia, X-linked 314050 XLR 3 GATA1 305371
ICD+
SNOMEDCT: 718196002
ORPHA: 231393
DO: 0111767
Search: 300367 305371 314050 (Search in: MIM number)
Results: 3 entries.

1:
* 305371. GATA-BINDING PROTEIN 1; GATA1
Cytogenetic location: Xp11.23, Genomic coordinates (GRCh38): X:48,786,590-48,794,311
Matching terms: 305371

2:
# 300367. THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA; XLTDA
Cytogenetic location: Xp11.23
Matching terms: 300367

3:
# 314050. THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED; XLTT
Cytogenetic location: Xp11.23
Matching terms: 314050