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:
Abnormality of body weight (HP:0004323)

Parent Node:
Increased body weight (HP:0004324)

..Starting node
..Overweight (HP:0025502)

Term ID:

25502

Name:

Overweight

Synonym:

Definition:

Increased body weight with a body mass index of 25-29.9 kg per square meter.

Comments:

Reference:

HP:0025502

Genes and Diseases:

Child Nodes:

Sister Nodes:

Large for gestational age (HP:0001520)

Obesity (HP:0001513)

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:0025502	HP:0025502	Overweight	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040282 - Frequent	111
HP:0025502	HP:0025502	Overweight	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040283 - Occasional	245
HP:0025502	HP:0025502	Overweight	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0025502	HP:0025502	Overweight	0	ADGRL1 CL E G H	22859	20973	OMIM:620065
HP:0025502	HP:0025502	Overweight	0	AP4B1 CL E G H	10717	572	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	49
HP:0025502	HP:0025502	Overweight	0	AP4E1 CL E G H	23431	573	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	48
HP:0025502	HP:0025502	Overweight	0	AP4M1 CL E G H	9179	574	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	41
HP:0025502	HP:0025502	Overweight	0	AP4S1 CL E G H	11154	575	ORPHA:280763	Severe intellectual disability and progressive spastic paraplegia	HP:0040283 - Occasional	18
HP:0025502	HP:0025502	Overweight	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040283 - Occasional	2
HP:0025502	HP:0025502	Overweight	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52		1
HP:0025502	HP:0025502	Overweight	0	BLK CL E G H	640	1057	OMIM:613375	Maturity-onset diabetes of the young, type 11	.	75
HP:0025502	HP:0025502	Overweight	0	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040283 - Occasional	75
HP:0025502	HP:0025502	Overweight	0	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040283 - Occasional	25
HP:0025502	HP:0025502	Overweight	0	CFAP418 CL E G H	157657	27232	OMIM:617406	Bardet-Biedl syndrome 21	.
HP:0025502	HP:0025502	Overweight	0	CHD8 CL E G H	57680	20153	OMIM:615032	AUTISM, SUSCEPTIBILITY TO, 18; AUTS18		72
HP:0025502	HP:0025502	Overweight	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0025502	HP:0025502	Overweight	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040283 - Occasional	184
HP:0025502	HP:0025502	Overweight	0	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040283 - Occasional	237
HP:0025502	HP:0025502	Overweight	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	21
HP:0025502	HP:0025502	Overweight	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040283 - Occasional	161
HP:0025502	HP:0025502	Overweight	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040283 - Occasional	138
HP:0025502	HP:0025502	Overweight	0	IGSF1 CL E G H	3547	5948	OMIM:300888	Hypothyroidism, central, and testicular enlargement	.	12
HP:0025502	HP:0025502	Overweight	0	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040283 - Occasional	62
HP:0025502	HP:0025502	Overweight	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040283 - Occasional	127
HP:0025502	HP:0025502	Overweight	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040283 - Occasional	78
HP:0025502	HP:0025502	Overweight	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	51
HP:0025502	HP:0025502	Overweight	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	43
HP:0025502	HP:0025502	Overweight	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040283 - Occasional	32
HP:0025502	HP:0025502	Overweight	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040283 - Occasional	55
HP:0025502	HP:0025502	Overweight	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040283 - Occasional	30
HP:0025502	HP:0025502	Overweight	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	36
HP:0025502	HP:0025502	Overweight	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040283 - Occasional	54
HP:0025502	HP:0025502	Overweight	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0025502	HP:0025502	Overweight	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040283 - Occasional	287
HP:0025502	HP:0025502	Overweight	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0025502	HP:0025502	Overweight	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0025502	HP:0025502	Overweight	0	THOC2 CL E G H	57187	19073	ORPHA:457240	X-linked intellectual disability-short stature-overweight syndrome	HP:0040282 - Frequent	5
HP:0025502	HP:0025502	Overweight	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0025502	HP:0025502	Overweight	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent	2
HP:0025502	HP:0025502	Overweight	0	TRIP4 CL E G H	9325	12310	ORPHA:486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	HP:0040283 - Occasional	4
HP:0025502	HP:0025502	Overweight	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11		1
HP:0025502	HP:0025502	Overweight	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0025502	HP:0025502	Overweight	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH

Genes (42) :ABCB4 ABCC8 ACADVL ADGRL1 AP4B1 AP4E1 AP4M1 AP4S1 APPL1 ASH1L BLK CEL CFAP418 CHD8 CTSK FOXP1 GCK HESX1 HNF1A HNF4A IGSF1 INS KCNJ11 KLF11 LHX3 LHX4 NEUROD1 PAX4 PDX1 POU1F1 PROP1 SATB1 SPG11 SPTBN1 TAOK1 THOC2 TMEM218 TRHR TRIP4 UNC45B USP7 ZBTB7A

Diseases (24) :ORPHA:69663 ORPHA:552 ORPHA:26793 OMIM:620065 ORPHA:280763 OMIM:617796 OMIM:613375 OMIM:617406 OMIM:615032 ORPHA:763 ORPHA:391372 ORPHA:226307 OMIM:300888 OMIM:619229 ORPHA:2822 OMIM:619475 OMIM:619575 ORPHA:457240 OMIM:619562 ORPHA:99832 ORPHA:486815 OMIM:619178 ORPHA:500055 OMIM:619769

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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