SHMARQL

permanent neonatal diabetes mellitus

<http://www.wikidata.org/entity/Q17143640>

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
rdfs:label
"permanent neonatal diabetes mellitus"@en
skos:altLabel
"DIABETES MELLITUS, PERMANENT NEONATAL"@en
"DIABETES MELLITUS, PERMANENT NEONATAL; PNDM"@en
"Developmental Delay, Epilepsy, and Neonatal Diabetes"@en
"Diabetes Mellitus, Permanent Neonatal, With Neurologic Features"@en
"Diabetes Mellitus, Permanent, of Infancy"@en
"Monogenic diabetes of infancy"@en
"PDMI"@en
"PNDM"@en
"permanent diabetes mellitus of infancy"@en
schema:description
"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
schema:dateModified "2026-10-24T00:54:25+00:00"^^xsd:dateTime
schema:version 2560169964
wikibase:identifiers 14
16
wikibase:sitelinks 1
wikibase:statements 54
p:P11430 wd:statement/Q17143640-1d9b8669-4929-451e-8899-127e8b735b06
p:P1193 wd:statement/Q17143640-C49254D8-53D1-4FE9-BBD8-FA3BED7AEC06
p:P14914 wd:statement/Q17143640-5F6EE880-8B5F-46AD-8022-029A823DD70B
p:P1550 wd:statement/Q17143640-75A73267-B689-453B-A58A-E5617B72F45B
p:P1748 wd:statement/Q17143640-22B9322F-9CCB-4DBD-BDAE-B33C0CADA5B4
p:P1995 wd:statement/Q17143640-5E6FC3A0-894A-4FDD-AF90-4771861D0A1D
p:P2293 wd:statement/Q17143640-1CD875C5-6821-42D1-A6CE-A60E64D1D0BA
wd:statement/Q17143640-3008F5D6-96AA-41EB-83C7-E03FEE3547FB
wd:statement/Q17143640-A4AACE95-7744-433C-A4FC-9FB4E2EBFD98
wd:statement/Q17143640-A64AC50D-745B-4A15-96A6-FB8FE1A5AFB7
wd:statement/Q17143640-C36513F2-A0C9-4975-8EF8-0D73DC643F50
wd:statement/Q17143640-CCB0C315-18B1-4AAB-9E9B-888E0B44264C
wd:statement/Q17143640-E4476855-A4E4-44DA-AEA2-DBDF3912EE15
p:P279 wd:statement/Q17143640-DD9E6D4F-DB7B-48F6-BB81-A9A51BD289FD
wd:statement/Q17143640-EE40ECBF-2A4B-44D4-9649-FAD89BA40A51
wd:statement/Q17143640-bdc669ab-42c4-808a-968a-14c19c5f9427
p:P2841 wd:statement/Q17143640-0CA26563-938C-4B02-B554-0DFE5F285572
wd:statement/Q17143640-31B50168-9FB5-4A57-A0FB-AA5A8A4542BD
wd:statement/Q17143640-4889B881-AF70-4BC1-96C7-BE87A2B580D6
p:P2888 wd:statement/Q17143640-5257C6C0-6455-4C19-9986-58215EC71B5D
wd:statement/Q17143640-68D3C18A-9D4A-4B60-8571-A8AD9889CD31
wd:statement/Q17143640-6C255757-07C5-48B9-B56A-8207D6B96652
wd:statement/Q17143640-7F253FA8-1067-4A3C-830C-9F20E5425F72
p:P2892 wd:statement/Q17143640-40DBAA29-FCD6-41C1-A4A3-698DC77C9183
wd:statement/Q17143640-4A06B023-1200-4893-BF47-1945699BE092
wd:statement/Q17143640-53A204B0-75E0-47F5-89B9-811504DF276F
wd:statement/Q17143640-F02FEA75-C331-4F40-BD72-3F51DFFA9B0B
p:P31 wd:statement/Q17143640-DBB10D3A-29D8-4AA0-896A-A5FC2312446C
p:P4229 wd:statement/Q17143640-E347F1CB-A9E7-40B4-A16D-7424DD3FF425
p:P4317 wd:statement/Q17143640-91CD0629-47E0-4B4A-B7B6-D0C7B08E3582
p:P492 wd:statement/Q17143640-F0BE9D04-02D6-49E4-BB7C-7E1A7E07C1EC
p:P5008 wd:statement/Q17143640-657EAF0F-6F5A-4E9C-B887-0841012A60F7
p:P5270 wd:statement/Q17143640-9EC1F4BA-999F-4B77-B7BB-3B26198E99C9
p:P6366 wd:statement/Q17143640-D96CD162-C242-4537-BED6-028F8CA39A4E
p:P6532 wd:statement/Q17143640-039B33BC-E828-4915-ADDE-493EB4EAACBA
wd:statement/Q17143640-112C6925-B44A-413C-99A3-C69D78CA5FF0
wd:statement/Q17143640-1CE747FD-8050-4E3A-9898-18445ECB2164
wd:statement/Q17143640-337BFA46-B89B-4A40-80CF-E84B157B7B53
wd:statement/Q17143640-33FBC28C-2ED1-4C0F-B26E-F934E4E221B9
wd:statement/Q17143640-382C2ABC-B079-4BAA-8299-1B1DEF6B6CEB
wd:statement/Q17143640-3A51C51C-DD53-40BB-9D9E-A036A1C96F51
wd:statement/Q17143640-63BC398B-314C-4989-BFB8-E11E402301AE
wd:statement/Q17143640-65F79695-693D-42BD-97A2-55693066B282
wd:statement/Q17143640-7847F63F-EC9A-4CD9-AA44-0044E3C47B33
wd:statement/Q17143640-920473AC-890D-4048-8C54-7D78293D0FF1
wd:statement/Q17143640-A2B9490A-4717-43E1-8141-1E1045FAD475
wd:statement/Q17143640-A8EE7365-52E8-45F2-964A-AE4BA44882D6
wd:statement/Q17143640-B9115009-ABA7-4A1D-A009-6D1A9ACE41A4
wd:statement/Q17143640-BCC4A8D8-AE27-43A5-9690-194972112873
wd:statement/Q17143640-D2F45B80-0774-48C8-B040-54383630674D
wd:statement/Q17143640-D7324675-89A9-428F-8784-337E776B4775
p:P665 wd:statement/Q17143640-840EB420-CA4D-47F4-AF3E-F49C7EBC28E0
p:P699 wd:statement/Q17143640-DABF3211-2453-4CE7-ACF3-6AA94B02BF5A
p:P7464 wd:statement/Q17143640-4E6D496E-C481-4C80-84D0-843C6652BC39
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0011643>
p:direct-normalized/P6366 <https://makg.org/entity/2781045103>
p:direct-normalized/P665 <http://www.kegg.jp/entry/H00512>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:0060639>
wdt:P11430 "DI-02152"
wdt:P1193 0.000005^^xsd:decimal
wdt:P14914 "D99885"
wdt:P1550 "99885"
wdt:P1748 "C114902"
wdt:P1995 neonatology
wdt:P2293 GCK
STAT3
KCNJ11
PDX1
ABCC8
NARS2
INS
wdt:P279 autosomal recessive disease
autosomal dominant disease
neonatal diabetes mellitus
wdt:P2841 congenital onset
neonatal onset
infantile onset
wdt:P2888 <http://identifiers.org/doid/DOID:0060639>
<http://purl.obolibrary.org/obo/DOID_0060639>
<http://www.orpha.net/ORDO/Orphanet_79134>
<http://www.orpha.net/ORDO/Orphanet_99885>
wdt:P2892 "C1833102"
"C1833104"
"C1853564"
"C5680384"
wdt:P31 type of disease
wdt:P4229 "P70.2"
wdt:P4317 "10457"
wdt:P492 "606176"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0011643"
wdt:P6366 "2781045103"
wdt:P6532 Neurodevelopmental delay
deafness
hypovolemia
failure to thrive
cerebellar ataxia
coma
microalbuminuria
hypotonia
dehydration
hyperglycemia
neonatal diabetes mellitus
disability affecting intellectual abilities
apraxia
retinal disease
arthrogryposis
weight loss
progressive myoclonus epilepsy
wdt:P665 "H00512"
wdt:P699 "DOID:0060639"
wdt:P7464 "permanent-neonatal-diabetes-mellitus"
Download as:
TurtleJSON-LDRDF/XML
data from SPARQL profile: Wikidata