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:
Abnormality of body height (HP:0000002)

Parent Node:
Tall stature (HP:0000098)

..Starting node
..Overgrowth (HP:0001548)

Term ID:

1548

Name:

Overgrowth

Synonym:

General overgrowth; Generalised overgrowth; Generalized overgrowth

Definition:

Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference.

Comments:

Reference:

HP:0001548

Genes and Diseases:

Child Nodes:

Sister Nodes:

Birth length greater than 97th percentile (HP:0003517)

Disproportionate tall stature (HP:0001519)

Proportionate tall stature (HP:0011407)

Slender build (HP:0001533)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001548	HP:0001548	Overgrowth	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001548	HP:0001548	Overgrowth	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0001548	HP:0001548	Overgrowth	0	DICER1 CL E G H	23405	17098	OMIM:618272	Global developmental delay, lung cysts, overgrowth, and wilms tumor	.		670
HP:0001548	HP:0001548	Overgrowth	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001548	HP:0001548	Overgrowth	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare		1
HP:0001548	HP:0001548	Overgrowth	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001548	HP:0001548	Overgrowth	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0001548	HP:0001548	Overgrowth	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional		45
HP:0001548	HP:0001548	Overgrowth	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040282 - Frequent		223
HP:0001548	HP:0001548	Overgrowth	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0001548	HP:0001548	Overgrowth	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome			81
HP:0001548	HP:0001548	Overgrowth	0	FAM20A CL E G H	54757	23015	OMIM:204690	Enamel-Renal syndrome	.		16
HP:0001548	HP:0001548	Overgrowth	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0001548	HP:0001548	Overgrowth	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0001548	HP:0001548	Overgrowth	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001548	HP:0001548	Overgrowth	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001548	HP:0001548	Overgrowth	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001548	HP:0001548	Overgrowth	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001548	HP:0001548	Overgrowth	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001548	HP:0001548	Overgrowth	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040281 - Very frequent		16
HP:0001548	HP:0001548	Overgrowth	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0001548	HP:0001548	Overgrowth	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0001548	HP:0001548	Overgrowth	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001548	HP:0001548	Overgrowth	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0001548	HP:0001548	Overgrowth	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0001548	HP:0001548	Overgrowth	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0001548	HP:0001548	Overgrowth	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0001548	HP:0001548	Overgrowth	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0001548	HP:0001548	Overgrowth	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040282 - Frequent		99
HP:0001548	HP:0001548	Overgrowth	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0001548	HP:0001548	Overgrowth	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001548	HP:0001548	Overgrowth	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare		1
HP:0001548	HP:0001548	Overgrowth	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0001548	HP:0001548	Overgrowth	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.		40
HP:0001548	HP:0001548	Overgrowth	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0001548	HP:0001548	Overgrowth	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001548	HP:0001548	Overgrowth	0	PDGFRB CL E G H	5159	8804	OMIM:616592	Kosaki overgrowth syndrome	.		28
HP:0001548	HP:0001548	Overgrowth	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.		46
HP:0001548	HP:0001548	Overgrowth	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.	HP:0003577 - Congenital onset	162
HP:0001548	HP:0001548	Overgrowth	0	PIK3CA CL E G H	5290	8975	ORPHA:276280	Hemihyperplasia-multiple lipomatosis syndrome	HP:0040280 - Obligate		162
HP:0001548	HP:0001548	Overgrowth	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0001548	HP:0001548	Overgrowth	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001548	HP:0001548	Overgrowth	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent		11
HP:0001548	HP:0001548	Overgrowth	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001548	HP:0001548	Overgrowth	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040284 - Very rare
HP:0001548	HP:0001548	Overgrowth	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0001548	HP:0001548	Overgrowth	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0001548	HP:0001548	Overgrowth	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS			1
HP:0001548	HP:0001548	Overgrowth	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85

Genes (42) :CAMK2A CDKN1C DICER1 DLK1 DNMT3A EED EFEMP2 EHMT1 ESR1 EZH2 FAM20A FBLN5 FIBP GPC3 GPC4 GPR101 H19-ICR H3-3B HERC1 HNRNPK HRAS HSPG2 IGF2 KCNQ1 KCNQ1OT1 KMT2C KRAS MEG3 NF1 NFIX NRAS NSD1 PDGFRB PIGA PIK3CA PIK3R2 RNF135 RTL1 SETD2 SOST SUZ12 TGFB3

Diseases (37) :OMIM:617798 OMIM:130650 OMIM:618272 ORPHA:254534 ORPHA:96334 OMIM:615879 OMIM:617561 OMIM:614437 ORPHA:261652 ORPHA:785 OMIM:277590 OMIM:204690 OMIM:219100 OMIM:617107 OMIM:312870 OMIM:300942 OMIM:619721 ORPHA:457359 ORPHA:352665 ORPHA:453504 OMIM:218040 OMIM:163200 OMIM:224410 OMIM:162200 OMIM:614753 OMIM:117550 OMIM:616592 OMIM:300868 OMIM:612918 ORPHA:276280 OMIM:602501 OMIM:603387 ORPHA:137634 OMIM:616831 OMIM:269500 OMIM:618786 OMIM:615582

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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