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:
Growth abnormality (HP:0001507)

Parent Node:
Abnormality of limbs (HP:0040064)

Parent Node:
Asymmetric growth (HP:0100555)

..Starting node
..Hemihypertrophy (HP:0001528)

Term ID:

1528

Name:

Hemihypertrophy

Synonym:

Asymmetric limb hypertrophy; Asymmetric overgrowth

Definition:

Overgrowth of only one side of the body.

Comments:

Reference:

HP:0001528

Genes and Diseases:

Child Nodes:

........

Hemihypertrophy of lower limb (HP:0100553)

........

Hemihypertrophy of upper limb (HP:0100554)

Sister Nodes:

Hemiatrophy (HP:0100556)

Lower limb asymmetry (HP:0100559)

Upper limb asymmetry (HP:0100560)

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:0001528	HP:0001528	Hemihypertrophy	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0001528	HP:0001528	Hemihypertrophy	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040280 - Obligate	12
HP:0001528	HP:0001528	Hemihypertrophy	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.	12
HP:0001528	HP:0001528	Hemihypertrophy	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0001528	HP:0001528	Hemihypertrophy	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0001528	HP:0001528	Hemihypertrophy	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	4
HP:0001528	HP:0001528	Hemihypertrophy	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001528	HP:0001528	Hemihypertrophy	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040283 - Occasional	90
HP:0001528	HP:0001528	Hemihypertrophy	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0001528	HP:0001528	Hemihypertrophy	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0001528	HP:0001528	Hemihypertrophy	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0001528	HP:0001528	Hemihypertrophy	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	9
HP:0001528	HP:0001528	Hemihypertrophy	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0001528	HP:0001528	Hemihypertrophy	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0001528	HP:0001528	Hemihypertrophy	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	1
HP:0001528	HP:0001528	Hemihypertrophy	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0001528	HP:0001528	Hemihypertrophy	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0001528	HP:0001528	Hemihypertrophy	0	PIK3CA CL E G H	5290	8975	OMIM:613089	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	HP:0040284 - Very rare	162
HP:0001528	HP:0001528	Hemihypertrophy	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040280 - Obligate	162
HP:0001528	HP:0001528	Hemihypertrophy	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0001528	HP:0001528	Hemihypertrophy	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0001528	HP:0001528	Hemihypertrophy	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001528	HP:0100554	Hemihypertrophy of upper limb	1	CL E G H
HP:0001528	HP:0100553	Hemihypertrophy of lower limb	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88

Genes (17) :AKT1 AKT2 CDKN1C DNMT3A H19 H19-ICR HNF1B HRAS IGF2 KCNQ1 KCNQ1OT1 KRAS NRAS PIK3CA RASA1 RNF125 ZNF699

Diseases (14) :OMIM:176920 ORPHA:293964 OMIM:240900 OMIM:130650 OMIM:615879 ORPHA:2128 ORPHA:1309 ORPHA:2874 OMIM:163200 OMIM:613089 OMIM:612918 ORPHA:90307 OMIM:616260 OMIM:619488

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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