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English
Stimmler syndrome
medical condition
ALANINURIA WITH MICROCEPHALY, DWARFISM, ENAMEL HYPOPLASIA, AND DIABETES MELLITUS
Stimmler Syndrome
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Statements
instance of
developmental defect during embryogenesis
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008743
class of disease
0 references
subclass of
microcephaly
0 references
syndromic intellectual disability
0 references
genetic syndromic intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008743
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008743
exact match
http://www.orpha.net/ORDO/Orphanet_3199
0 references
Identifiers
MeSH descriptor ID
C565968
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008743
GARD rare disease ID
5026
1 reference
stated in
Genetic and Rare Diseases Information Center
retrieved
1 April 2019
ICD-10
no value
1 reference
imported from Wikimedia project
English Wikipedia
ICD-9 ID
no value
1 reference
imported from Wikimedia project
English Wikipedia
Mondo ID
MONDO_0008743
0 references
OMIM ID
202900
mapping relation type
exact match
2 references
imported from Wikimedia project
English Wikipedia
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008743
Orphanet ID
3199
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008743
UMLS CUI
C1859965
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0008743
Sitelinks
Wikipedia
(1 entry)
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enwiki
Stimmler syndrome
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Wikinews
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Wikiquote
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Wikisource
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Wikiversity
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Wikivoyage
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Wiktionary
(0 entries)
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Multilingual sites
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