Entry Search - 159950 228000 613468 - OMIM
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Search: '159950 228000 613468 (Search in: MIM number)'
Results: 3 entries.

1:
* 613468. N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
Cytogenetic location: 8p22, Genomic coordinates (GRCh38): 8:18,055,992-18,084,961
Matching terms: 613468
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
8p22 Farber lipogranulomatosis 228000 AR 3
Spinal muscular atrophy with progressive myoclonic epilepsy 159950 AR 3
ICD+
SNOMEDCT: 703524005, 79935000

2:
# 159950. SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME
Cytogenetic location: 8p22
Matching terms: 159950
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
8p22 Spinal muscular atrophy with progressive myoclonic epilepsy 159950 AR 3 ASAH1 613468
ICD+
SNOMEDCT: 703524005
ORPHA: 2590
DO: 0111527

3:
# 228000. FARBER LIPOGRANULOMATOSIS; FRBRL
Cytogenetic location: 8p22
Matching terms: 228000
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
8p22 Farber lipogranulomatosis 228000 AR 3 ASAH1 613468
ICD+
SNOMEDCT: 79935000
ORPHA: 333
DO: 0050464
Search: 159950 228000 613468 (Search in: MIM number)
Results: 3 entries.

1:
* 613468. N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; ASAH1
Cytogenetic location: 8p22, Genomic coordinates (GRCh38): 8:18,055,992-18,084,961
Matching terms: 613468

2:
# 159950. SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY; SMAPME
Cytogenetic location: 8p22
Matching terms: 159950

3:
# 228000. FARBER LIPOGRANULOMATOSIS; FRBRL
Cytogenetic location: 8p22
Matching terms: 228000