Entry Search - 223900 603722 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '223900 603722 (Search in: MIM number)'
Results: 2 entries.

1:
* 603722. ELONGATOR COMPLEX PROTEIN 1; ELP1
Cytogenetic location: 9q31.3, Genomic coordinates (GRCh38): 9:108,867,517-108,934,124
Matching terms: 603722
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
9q31.3 {Medulloblastoma} 155255 AD, AR, SMu 3
Dysautonomia, familial 223900 AR 3
ICD+
SNOMEDCT: 1156923005, 29159009, 443333004
ICD10CM: G90.1

2:
# 223900. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Cytogenetic location: 9q31.3
Matching terms: 223900
 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
9q31.3 Dysautonomia, familial 223900 AR 3 ELP1 603722
ICD+
SNOMEDCT: 29159009
ICD10CM: G90.1
ORPHA: 1764
DO: 11589
Search: 223900 603722 (Search in: MIM number)
Results: 2 entries.

1:
* 603722. ELONGATOR COMPLEX PROTEIN 1; ELP1
Cytogenetic location: 9q31.3, Genomic coordinates (GRCh38): 9:108,867,517-108,934,124
Matching terms: 603722

2:
# 223900. NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III; HSAN3
Cytogenetic location: 9q31.3
Matching terms: 223900