Entry Search - 268400 603780 608473 618625 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '268400 603780 608473 618625 (Search in: MIM number)'
Results: 4 entries.

1:
# 618625. ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1
Cytogenetic location: 2q13
Matching terms: 618625
 Phenotype-Gene Relationships   Phenotypic Series   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
2q13 Rothmund-Thomson syndrome, type 1 618625 AR 3 ANAPC1 608473
ICD+
SNOMEDCT: 1003922004, 69093006
ICD10CM: Q82.8
ORPHA: 221008

3:
* 608473. ANAPHASE-PROMOTING COMPLEX, SUBUNIT 1; ANAPC1
Cytogenetic location: 2q13, Genomic coordinates (GRCh38): 2:111,766,231-111,884,193
Matching terms: 608473
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
2q13 Rothmund-Thomson syndrome, type 1 618625 AR 3
ICD+
SNOMEDCT: 1003922004

4:
* 603780. RECQ PROTEIN-LIKE 4; RECQL4
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:144,511,288-144,517,833
Matching terms: 603780
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
8q24.3 Baller-Gerold syndrome 218600 AR 3
RAPADILINO syndrome 266280 AR 3
Rothmund-Thomson syndrome, type 2 268400 AR 3
ICD+
SNOMEDCT: 1003923009, 702413000, 77608001
Search: 268400 603780 608473 618625 (Search in: MIM number)
Results: 4 entries.

1:
# 618625. ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1
Cytogenetic location: 2q13
Matching terms: 618625

2:
# 268400. ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
Cytogenetic location: 8q24.3
Matching terms: 268400

3:
* 608473. ANAPHASE-PROMOTING COMPLEX, SUBUNIT 1; ANAPC1
Cytogenetic location: 2q13, Genomic coordinates (GRCh38): 2:111,766,231-111,884,193
Matching terms: 608473

4:
* 603780. RECQ PROTEIN-LIKE 4; RECQL4
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:144,511,288-144,517,833
Matching terms: 603780