Entry Search - 263700 305371 606938 - OMIM
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Search: '263700 305371 606938 (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, congenital, nonspherocytic hemolytic, 9 301083 XLR 3
Anemia, X-linked, with/without neutropenia and/or platelet abnormalities 300835 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:
# 263700. PORPHYRIA, CONGENITAL ERYTHROPOIETIC; CEP
Cytogenetic location: 10q26.2
Matching terms: 263700
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
10q26.2 Porphyria, congenital erythropoietic 263700 AR 3 UROS 606938
ICD+
SNOMEDCT: 190913009, 22935002
ICD10CM: E80.0
ORPHA: 79277
DO: 13271

3:
* 606938. UROPORPHYRINOGEN III SYNTHASE; UROS
Cytogenetic location: 10q26.2, Genomic coordinates (GRCh38): 10:125,784,980-125,823,258
Matching terms: 606938
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
10q26.2 Porphyria, congenital erythropoietic 263700 AR 3
ICD+
SNOMEDCT: 190913009, 22935002
ICD10CM: E80.0
Search: 263700 305371 606938 (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:
# 263700. PORPHYRIA, CONGENITAL ERYTHROPOIETIC; CEP
Cytogenetic location: 10q26.2
Matching terms: 263700

3:
* 606938. UROPORPHYRINOGEN III SYNTHASE; UROS
Cytogenetic location: 10q26.2, Genomic coordinates (GRCh38): 10:125,784,980-125,823,258
Matching terms: 606938