Entry Search - 176000 609806 - OMIM
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Search: '176000 609806 (Search in: MIM number)'
Results: 2 entries.

1:
* 609806. HYDROXYMETHYLBILANE SYNTHASE; HMBS
Cytogenetic location: 11q23.3, Genomic coordinates (GRCh38): 11:119,084,881-119,093,549
Matching terms: 609806
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
11q23.3 Encephalopathy, porphyria-related 620704 AR 3
Leukoencephalopathy, porphyria-related 620711 AR 3
Porphyria, acute intermittent 176000 AD 3
Porphyria, acute intermittent, nonerythroid variant 176000 AD 3
ICD+
SNOMEDCT: 234422006

2:
# 176000. PORPHYRIA, ACUTE INTERMITTENT; AIP
PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED
Cytogenetic locations: 11q23.3,
Matching terms: 176000
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
11q23.3 Porphyria, acute intermittent 176000 AD 3 HMBS 609806
11q23.3 Porphyria, acute intermittent, nonerythroid variant 176000 AD 3 HMBS 609806
ICD+
SNOMEDCT: 234422006, 276263005, 84816006
ORPHA: 79276
DO: 3890
Search: 176000 609806 (Search in: MIM number)
Results: 2 entries.

1:
* 609806. HYDROXYMETHYLBILANE SYNTHASE; HMBS
Cytogenetic location: 11q23.3, Genomic coordinates (GRCh38): 11:119,084,881-119,093,549
Matching terms: 609806

2:
# 176000. PORPHYRIA, ACUTE INTERMITTENT; AIP
PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, INCLUDED
Cytogenetic locations: 11q23.3,
Matching terms: 176000