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:
Abnormal glucose homeostasis (HP:0011014)

Parent Node:
Diabetes mellitus (HP:0000819)

Parent Node:
Insulin resistance (HP:0000855)

..Starting node
..Insulin-resistant diabetes mellitus (HP:0000831)

Term ID:

831

Name:

Insulin-resistant diabetes mellitus

Synonym:

Insulin resistant diabetes; Insulin resistant diabetes mellitus; Insulin-resistant diabetes

Definition:

A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as well as in fasting and postprandial serum insulin levels.

Comments:

Reference:

HP:0000831

Genes and Diseases:

Child Nodes:

........

Neonatal insulin-dependent diabetes mellitus (HP:0000857)

................... HP:0008255 Transient neonatal diabetes mellitus

........

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

Sister Nodes:

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:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		245
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1		85
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040282 - Frequent	12
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	404
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2		105
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent	8
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome		2
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent	87
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.	65
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome		65
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome		37
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		237
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		62
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	INSR CL E G H	3643	6091	OMIM:262190	Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities	.	229
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040282 - Frequent	229
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		127
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	LEP CL E G H	3952	6553	ORPHA:66628	Obesity due to congenital leptin deficiency	HP:0040282 - Frequent	47
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	LEPR CL E G H	3953	6554	ORPHA:179494	Obesity due to leptin receptor gene deficiency	HP:0040282 - Frequent	46
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent	7
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent	645
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	2
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		30
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital		30
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PIK3R1 CL E G H	5295	8979	OMIM:269880	Short syndrome	.	43
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4		19
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy		19
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.	42
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent	42
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome		22
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus		110
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent	9
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1		30
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0000831	HP:0000831	Insulin-resistant diabetes mellitus	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.	83
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	245
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY		245
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus		245
HP:0000831	HP:0000877	Insulin-resistant diabetes mellitus at puberty	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.	85
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY		2
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	BLK CL E G H	640	1057	ORPHA:552	MODY		75
HP:0000831	HP:0000877	Insulin-resistant diabetes mellitus at puberty	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.	105
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	CEL CL E G H	1056	1848	ORPHA:552	MODY		25
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent	2
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent	65
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	237
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	GCK CL E G H	2645	4195	ORPHA:552	MODY		237
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY		161
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY		138
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	62
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	INS CL E G H	3630	6081	ORPHA:552	MODY		62
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3		127
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	127
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY		127
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus		127
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY		78
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY		32
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY		55
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	30
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY		30
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.	30
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0000831	HP:0000877	Insulin-resistant diabetes mellitus at puberty	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate	19
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040281 - Very frequent	22
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent	110
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1		30
HP:0000831	HP:0000857	Neonatal insulin-dependent diabetes mellitus	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus		30
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	ABCC8 CL E G H	6833	59	OMIM:610374	DIABETES MELLITUS, TRANSIENT NEONATAL, 2		245
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	245
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	HYMAI CL E G H	57061	5326	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.	127
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	127
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	ZFP57 CL E G H	346171	18791	OMIM:601410	Diabetes mellitus, transient neonatal, 1	.	30
HP:0000831	HP:0008255	Transient neonatal diabetes mellitus	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040282 - Frequent	30

Genes (38) :ABCC8 AGPAT2 AKT2 ALMS1 APPL1 BLK BSCL2 CEL CIDEC CNOT1 DCAF17 EIF2AK3 GATA6 GCK HNF1A HNF4A HYMAI INS INSR KCNJ11 KLF11 LEP LEPR LIPE LMNA NEUROD1 NSMCE2 PAX4 PDX1 PIK3R1 PLAGL1 PLIN1 PPARG PTF1A STAT3 XRCC4 ZFP57 ZMPSTE24

Diseases (34) :OMIM:610374 ORPHA:99885 ORPHA:552 ORPHA:99886 OMIM:608594 ORPHA:79085 OMIM:203800 OMIM:269700 ORPHA:435651 ORPHA:556955 ORPHA:3464 OMIM:226980 ORPHA:1667 ORPHA:2255 OMIM:601410 ORPHA:96191 OMIM:262190 ORPHA:769 OMIM:610582 ORPHA:66628 ORPHA:179494 ORPHA:435660 ORPHA:79474 OMIM:151660 OMIM:248370 ORPHA:436182 OMIM:260370 OMIM:269880 OMIM:613877 ORPHA:280356 OMIM:604367 ORPHA:79083 ORPHA:65288 OMIM:608612

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen