Entry Search - 257200 607608 607616 - OMIM
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Search: '257200 607608 607616 (Search in: MIM number)'
Results: 3 entries.

1:
* 607608. SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Cytogenetic location: 11p15.4, Genomic coordinates (GRCh38): 11:6,390,474-6,394,996
Matching terms: 607608
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
11p15.4 Niemann-Pick disease, type A 257200 AR 3
Niemann-Pick disease, type B 607616 AR 3
ICD+
SNOMEDCT: 39390005, 52165006
ICD10CM: E75.240, E75.241

2:
# 607616. NIEMANN-PICK DISEASE, TYPE B
NIEMANN-PICK DISEASE, TYPE E, INCLUDED
Cytogenetic location: 11p15.4
Matching terms: 607616
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
11p15.4 Niemann-Pick disease, type B 607616 AR 3 SMPD1 607608
ICD+
SNOMEDCT: 39390005
ICD10CM: E75.241
ORPHA: 77293
DO: 0070112

3:
# 257200. NIEMANN-PICK DISEASE, TYPE A
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
Cytogenetic location: 11p15.4
Matching terms: 257200
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
11p15.4 Niemann-Pick disease, type A 257200 AR 3 SMPD1 607608
ICD+
SNOMEDCT: 52165006
ICD10CM: E75.240
ORPHA: 77292
DO: 0070111
Search: 257200 607608 607616 (Search in: MIM number)
Results: 3 entries.

1:
* 607608. SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL; SMPD1
Cytogenetic location: 11p15.4, Genomic coordinates (GRCh38): 11:6,390,474-6,394,996
Matching terms: 607608

2:
# 607616. NIEMANN-PICK DISEASE, TYPE B
NIEMANN-PICK DISEASE, TYPE E, INCLUDED
Cytogenetic location: 11p15.4
Matching terms: 607616

3:
# 257200. NIEMANN-PICK DISEASE, TYPE A
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED
Cytogenetic location: 11p15.4
Matching terms: 257200