Entry Search - 236200 613381 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '236200 613381 (Search in: MIM number)'
Results: 2 entries.

1:
* 613381. CYSTATHIONINE BETA-SYNTHASE; CBS
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:43,053,191-43,076,873
Matching terms: 613381
 Gene-Phenotype Relationships   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
21q22.3 Homocystinuria, B6-responsive and nonresponsive types 236200 AR 3
Thrombosis, hyperhomocysteinemic 236200 AR 3

2:
# 236200. HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
Cytogenetic locations: 21q22.3,
Matching terms: 236200
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
21q22.3 Thrombosis, hyperhomocysteinemic 236200 AR 3 CBS 613381
21q22.3 Homocystinuria, B6-responsive and nonresponsive types 236200 AR 3 CBS 613381
ICD+
SNOMEDCT: 24308003
ORPHA: 394
DO: 9263
Search: 236200 613381 (Search in: MIM number)
Results: 2 entries.

1:
* 613381. CYSTATHIONINE BETA-SYNTHASE; CBS
Cytogenetic location: 21q22.3, Genomic coordinates (GRCh38): 21:43,053,191-43,076,873
Matching terms: 613381

2:
# 236200. HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED
Cytogenetic locations: 21q22.3,
Matching terms: 236200