Human Phenotype Ontology

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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 blood glucose concentration (HP:0011015)

Parent Node:
Hypoglycemia (HP:0001943)

..Starting node
..Neonatal hypoglycemia (HP:0001998)

Term ID:

1998

Name:

Neonatal hypoglycemia

Synonym:

Low blood sugar in newborn

Definition:

Comments:

Reference:

HP:0001998

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoglycemic seizures (HP:0002173)

Hypoketotic hypoglycemia (HP:0001985)

Ketotic hypoglycemia (HP:0012734)

Nonketotic hypoglycemia (HP:0001958)

Reactive hypoglycemia (HP:0012051)

Recurrent hypoglycemia (HP:0001988)

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:0001998	HP:0001998	Neonatal hypoglycemia	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent	12
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.	12
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	CIC CL E G H	23152	14214	OMIM:617600	Mental retardation, autosomal dominant 45		39
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional	38
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia		38
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent	31
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	DBH CL E G H	1621	2689	OMIM:223360	Dopamine beta-hydroxylase deficiency, congenital	.	80
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional	25
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	GYS2 CL E G H	2998	4707	OMIM:240600	Glycogen storage disease 0, liver	.	100
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	4
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent	41
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040281 - Very frequent	161
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent	138
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HSD3B2 CL E G H	3284	5218	ORPHA:90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	HP:0040282 - Frequent	34
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040283 - Occasional	9
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency		127
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2		53
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH		5
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040284 - Very rare	68
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	OTX2 CL E G H	5015	8522	OMIM:613986	Pituitary hormone deficiency, combined, 6		41
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.	235
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	PROP1 CL E G H	5626	9455	OMIM:262600	Pituitary hormone deficiency, combined, 2	.	54
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency		40
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040280 - Obligate	57
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0001998	HP:0001998	Neonatal hypoglycemia	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2

Genes (49) :ABCC8 AKT2 APC2 APPL1 BLK CDKN1C CEL CIC CLPB COX10 CYP11A1 DBH DNAJC19 EBP FBP1 GCK GFM2 GYS2 H19 H19-ICR HADH HERC1 HNF1A HNF4A HSD3B2 HTRA2 IGF2 INS KCNJ11 KCNQ1 KCNQ1OT1 KDM6A KLF11 MADD MSL3 MTOR NEUROD1 NSD1 OTX2 PAX4 PDX1 PET100 PRKAG2 PROP1 SETD2 SLC25A20 TBX19 WARS2 YARS1

Diseases (38) :ORPHA:552 ORPHA:293964 OMIM:240900 ORPHA:821 OMIM:130650 OMIM:617600 ORPHA:445038 OMIM:616271 OMIM:619046 ORPHA:168558 ORPHA:289548 OMIM:223360 ORPHA:66634 ORPHA:35173 ORPHA:348 ORPHA:565624 OMIM:240600 ORPHA:231140 ORPHA:71212 ORPHA:457359 ORPHA:324575 ORPHA:263455 ORPHA:90791 OMIM:617248 ORPHA:79644 OMIM:300867 OMIM:619004 OMIM:301032 ORPHA:457485 OMIM:117550 OMIM:613986 OMIM:619055 OMIM:261740 OMIM:262600 OMIM:212138 ORPHA:199296 ORPHA:572798 OMIM:619418

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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