Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Diabetes mellitus (HP:0000819)

Grandparent Node:
Insulin resistance (HP:0000855)

Parent Node:
Insulin-resistant diabetes mellitus (HP:0000831)

..Starting node
..Neonatal insulin-dependent diabetes mellitus (HP:0000857)

Term ID:

857

Name:

Neonatal insulin-dependent diabetes mellitus

Synonym:

Definition:

Comments:

Reference:

HP:0000857

Genes and Diseases:

Child Nodes:

........

Transient neonatal diabetes mellitus (HP:0008255)

Sister Nodes:

Insulin-resistant diabetes mellitus at puberty (HP:0000877)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent	65
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1		30
HP:0000857	HP:0000857	Neonatal insulin-dependent diabetes mellitus	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.	127
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.	30
HP:0000857	HP:0008255	Transient neonatal diabetes mellitus	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30

Genes (21) :ABCC8 APPL1 BLK CEL CNOT1 EIF2AK3 GATA6 GCK HNF1A HNF4A HYMAI INS KCNJ11 KLF11 NEUROD1 PAX4 PDX1 PLAGL1 PTF1A STAT3 ZFP57

Diseases (12) :OMIM:610374 ORPHA:99885 ORPHA:552 ORPHA:99886 ORPHA:556955 ORPHA:1667 ORPHA:2255 OMIM:601410 ORPHA:96191 OMIM:610582 OMIM:260370 ORPHA:65288

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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