About: permanent neonatal diabetes mellitus

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About: permanent neonatal diabetes mellitus Goto Sponge NotDistinct Permalink

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neonatal diabetes mellitus that has material basis in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene

Attributes	Values
rdf:type	Item
owl:sameAs	permanent neonatal diabetes mellitus
description	Krankheit (de) malattia (it) مرض يصيب الإنسان (ar) хвороба (uk) neonatal diabetes mellitus that has material basis in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene (en)
exact match	wds:Q17143640-5257C6C0-6455-4C19-9986-58215EC71B5D wds:Q17143640-68D3C18A-9D4A-4B60-8571-A8AD9889CD31 wds:Q17143640-6C255757-07C5-48B9-B56A-8207D6B96652 wds:Q17143640-7F253FA8-1067-4A3C-830C-9F20E5425F72
exact match	http://purl.obolibrary.org/obo/DOID_0060639 http://identifiers.org/doid/DOID:0060639 http://www.orpha.net/ORDO/Orphanet_79134 http://www.orpha.net/ORDO/Orphanet_99885
Mondo ID	wds:Q17143640-9EC1F4BA-999F-4B77-B7BB-3B26198E99C9
Disease Ontology ID	wds:Q17143640-DABF3211-2453-4CE7-ACF3-6AA94B02BF5A
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0011643
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060639
Mondo ID	MONDO_0011643
Disease Ontology ID	DOID:0060639
rdfs:label	diabète néonatal permanent (fr) permanent neonatal diabetes mellitus (en)
skos:prefLabel	diabète néonatal permanent (fr) permanent neonatal diabetes mellitus (en)
name	diabète néonatal permanent (fr) permanent neonatal diabetes mellitus (en)
instance of	wds:Q17143640-DBB10D3A-29D8-4AA0-896A-A5FC2312446C
instance of	class of disease
subclass of	wds:Q17143640-DD9E6D4F-DB7B-48F6-BB81-A9A51BD289FD wds:Q17143640-EE40ECBF-2A4B-44D4-9649-FAD89BA40A51 wds:Q17143640-bdc669ab-42c4-808a-968a-14c19c5f9427
subclass of	neonatal diabetes mellitus autosomal recessive disease autosomal dominant disease
KEGG ID	wds:Q17143640-840EB420-CA4D-47F4-AF3E-F49C7EBC28E0
KEGG ID	http://www.kegg.jp/entry/H00512
KEGG ID	H00512
UniProt disease ID	wds:Q17143640-1d9b8669-4929-451e-8899-127e8b735b06
Orphanet ID	wds:Q17143640-75A73267-B689-453B-A58A-E5617B72F45B
genetic association	wds:Q17143640-3008F5D6-96AA-41EB-83C7-E03FEE3547FB wds:Q17143640-A4AACE95-7744-433C-A4FC-9FB4E2EBFD98 wds:Q17143640-C36513F2-A0C9-4975-8EF8-0D73DC643F50 wds:Q17143640-E4476855-A4E4-44DA-AEA2-DBDF3912EE15
ICD-10-CM	wds:Q17143640-E347F1CB-A9E7-40B4-A16D-7424DD3FF425
GARD rare disease ID	wds:Q17143640-91CD0629-47E0-4B4A-B7B6-D0C7B08E3582
OMIM ID	wds:Q17143640-D54F77AA-330E-4054-92D8-F6A9BF987798 wds:Q17143640-F0BE9D04-02D6-49E4-BB7C-7E1A7E07C1EC
Genetics Home Reference Conditions ID	wds:Q17143640-4E6D496E-C481-4C80-84D0-843C6652BC39
UniProt disease ID	DI-02152
Orphanet ID	99885
genetic association	INS KCNJ11 ABCC8 GCK
ICD-10-CM	P70.2
GARD rare disease ID	10457
OMIM ID	606176
Genetics Home Reference Conditions ID	permanent-neonatal-diabetes-mellitus
skos:altLabel	DIABETES MELLITUS, PERMANENT NEONATAL (en) DIABETES MELLITUS, PERMANENT NEONATAL; PNDM (en) Diabetes Mellitus, Permanent, of Infancy (en) Monogenic diabetes of infancy (en) PDMI (en) PNDM (en) Diabetes Mellitus, Permanent Neonatal, With Neurologic Features (en) permanent diabetes mellitus of infancy (en) Developmental Delay, Epilepsy, and Neonatal Diabetes (en)
NCI Thesaurus ID	wds:Q17143640-22B9322F-9CCB-4DBD-BDAE-B33C0CADA5B4
UMLS CUI	wds:Q17143640-40DBAA29-FCD6-41C1-A4A3-698DC77C9183 wds:Q17143640-4A06B023-1200-4893-BF47-1945699BE092 wds:Q17143640-53A204B0-75E0-47F5-89B9-811504DF276F wds:Q17143640-F02FEA75-C331-4F40-BD72-3F51DFFA9B0B
on focus list of Wikimedia project	wds:Q17143640-657EAF0F-6F5A-4E9C-B887-0841012A60F7
Microsoft Academic ID	wds:Q17143640-D96CD162-C242-4537-BED6-028F8CA39A4E
Microsoft Academic ID	https://makg.org/entity/2781045103
NCI Thesaurus ID	C114902
UMLS CUI	C1833102 C1833104 C1853564 C5680384
on focus list of Wikimedia project	WikiProject Medicine
Microsoft Academic ID	2781045103
is owl:sameAs of	permanent neonatal diabetes mellitus
is about of	permanent neonatal diabetes mellitus https://www.wikidata.org/wiki/Special:EntityData/Q17143640 Permanent neonatal diabetes
is subclass of of	intermediate DEND syndrome DEND syndrome neonatal diabetes mellitus with congenital hypothyroidism
is subclass of of	wds:Q55789455-2D1B584E-6630-49F4-BED9-C638F1E38AB3 wds:Q56014276-6fbde686-4b78-dbda-791c-96be9c9753bf wds:Q27674736-7b296195-4c93-f0bf-16a4-f49531958142
is main subject of	A Mutation in the TMD0-L0 Region of Sulfonylurea Receptor-1 (L225P) Causes Permanent Neonatal Diabetes Mellitus (PNDM) Permanent neonatal diabetes mellitus caused by a novel homozygous (T168A) glucokinase (GCK) mutation: initial response to oral sulphonylurea therapy Glibenclamide treatment in permanent neonatal diabetes mellitus due to an activating mutation in Kir6.2. Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report Permanent neonatal diabetes mellitus: A case report with plasma insulin studies Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6 Early-onset, severe lipoatrophy in a patient with permanent neonatal diabetes mellitus secondary to a recessive mutation in the INS gene

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