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:
Phenotypic abnormality (HP:0000118)

Parent Node:
Growth abnormality (HP:0001507)

..Starting node
..Asymmetric growth (HP:0100555)

Term ID:

100555

Name:

Asymmetric growth

Synonym:

Uneven or disproportionate growth of one body part compared to another

Definition:

A growth pattern that displays an abnormal difference between the left and the right side.

Comments:

Reference:

HP:0100555

Genes and Diseases:

Child Nodes:

........

Hemihypertrophy (HP:0001528)

................... HP:0100553 Hemihypertrophy of lower limb
................... HP:0100554 Hemihypertrophy of upper limb

........

Hemiatrophy (HP:0100556)

................... HP:0100557 Hemiatrophy of lower limb
................... HP:0100558 Hemiatrophy of upper limb
................... HP:0200053 Hemihypotrophy of lower limb

........

Lower limb asymmetry (HP:0100559)

................... HP:0100553 Hemihypertrophy of lower limb
................... HP:0100557 Hemiatrophy of lower limb

........

Upper limb asymmetry (HP:0100560)

................... HP:0100554 Hemihypertrophy of upper limb
................... HP:0100558 Hemiatrophy of upper limb

Sister Nodes:

Abnormality of body height (HP:0000002)

Abnormality of body weight (HP:0004323)

Growth delay (HP:0001510)

Heterotaxy (HP:0030853)

Increased body fat percentage (HP:0025521)

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:0100555	HP:0100555	Asymmetric growth	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome		72
HP:0100555	HP:0100555	Asymmetric growth	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome		1
HP:0100555	HP:0100555	Asymmetric growth	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0100555	HP:0100555	Asymmetric growth	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic		54
HP:0100555	HP:0100555	Asymmetric growth	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy		12
HP:0100555	HP:0100555	Asymmetric growth	0	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy		12
HP:0100555	HP:0100555	Asymmetric growth	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0100555	HP:0100555	Asymmetric growth	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0100555	HP:0100555	Asymmetric growth	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0100555	HP:0100555	Asymmetric growth	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0100555	HP:0100555	Asymmetric growth	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	114
HP:0100555	HP:0100555	Asymmetric growth	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis		284
HP:0100555	HP:0100555	Asymmetric growth	0	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head		284
HP:0100555	HP:0100555	Asymmetric growth	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0100555	HP:0100555	Asymmetric growth	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0100555	HP:0100555	Asymmetric growth	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0100555	HP:0100555	Asymmetric growth	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0100555	HP:0100555	Asymmetric growth	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0100555	HP:0100555	Asymmetric growth	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0100555	HP:0100555	Asymmetric growth	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100555	HP:0100555	Asymmetric growth	0	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0100555	HP:0100555	Asymmetric growth	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0100555	HP:0100555	Asymmetric growth	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0100555	HP:0100555	Asymmetric growth	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0100555	HP:0100555	Asymmetric growth	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0100555	HP:0100555	Asymmetric growth	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0100555	HP:0100555	Asymmetric growth	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0100555	HP:0100555	Asymmetric growth	0	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei		7
HP:0100555	HP:0100555	Asymmetric growth	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040282 - Frequent
HP:0100555	HP:0100555	Asymmetric growth	0	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia		4
HP:0100555	HP:0100555	Asymmetric growth	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent	4
HP:0100555	HP:0100555	Asymmetric growth	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0100555	HP:0100555	Asymmetric growth	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	2
HP:0100555	HP:0100555	Asymmetric growth	0	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney		90
HP:0100555	HP:0100555	Asymmetric growth	0	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E		25
HP:0100555	HP:0100555	Asymmetric growth	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0100555	HP:0100555	Asymmetric growth	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100555	HP:0100555	Asymmetric growth	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0100555	HP:0100555	Asymmetric growth	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0100555	HP:0100555	Asymmetric growth	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0100555	HP:0100555	Asymmetric growth	0	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia		9
HP:0100555	HP:0100555	Asymmetric growth	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	9
HP:0100555	HP:0100555	Asymmetric growth	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040281 - Very frequent	9
HP:0100555	HP:0100555	Asymmetric growth	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent	52
HP:0100555	HP:0100555	Asymmetric growth	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100555	HP:0100555	Asymmetric growth	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0100555	HP:0100555	Asymmetric growth	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0100555	HP:0100555	Asymmetric growth	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0100555	HP:0100555	Asymmetric growth	0	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia		1
HP:0100555	HP:0100555	Asymmetric growth	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0100555	HP:0100555	Asymmetric growth	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0100555	HP:0100555	Asymmetric growth	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0100555	HP:0100555	Asymmetric growth	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0100555	HP:0100555	Asymmetric growth	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0100555	HP:0100555	Asymmetric growth	0	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs		4
HP:0100555	HP:0100555	Asymmetric growth	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0100555	HP:0100555	Asymmetric growth	0	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome		17
HP:0100555	HP:0100555	Asymmetric growth	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0100555	HP:0100555	Asymmetric growth	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0100555	HP:0100555	Asymmetric growth	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0100555	HP:0100555	Asymmetric growth	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		162
HP:0100555	HP:0100555	Asymmetric growth	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi		162
HP:0100555	HP:0100555	Asymmetric growth	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040281 - Very frequent	162
HP:0100555	HP:0100555	Asymmetric growth	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional	3
HP:0100555	HP:0100555	Asymmetric growth	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia		20
HP:0100555	HP:0100555	Asymmetric growth	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0100555	HP:0100555	Asymmetric growth	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0100555	HP:0100555	Asymmetric growth	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0100555	HP:0100555	Asymmetric growth	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0100555	HP:0100555	Asymmetric growth	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome		948
HP:0100555	HP:0100555	Asymmetric growth	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0100555	HP:0100555	Asymmetric growth	0	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E		6
HP:0100555	HP:0100555	Asymmetric growth	0	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0100555	HP:0100555	Asymmetric growth	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0100555	HP:0100555	Asymmetric growth	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome		5
HP:0100555	HP:0100555	Asymmetric growth	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0100555	HP:0100555	Asymmetric growth	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant		34
HP:0100555	HP:0100555	Asymmetric growth	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency		43
HP:0100555	HP:0100555	Asymmetric growth	0	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0100555	HP:0100555	Asymmetric growth	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0100555	HP:0100555	Asymmetric growth	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0100555	HP:0100555	Asymmetric growth	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0100555	HP:0100555	Asymmetric growth	0	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head		214
HP:0100555	HP:0100555	Asymmetric growth	0	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs		14
HP:0100555	HP:0100555	Asymmetric growth	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0100555	HP:0100555	Asymmetric growth	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100555	HP:0100555	Asymmetric growth	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100555	HP:0100559	Lower limb asymmetry	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0100555	HP:0100560	Upper limb asymmetry	1	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0100555	HP:0100559	Lower limb asymmetry	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040281 - Very frequent	1
HP:0100555	HP:0100560	Upper limb asymmetry	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040281 - Very frequent	1
HP:0100555	HP:0100560	Upper limb asymmetry	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0100555	HP:0100559	Lower limb asymmetry	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	54
HP:0100555	HP:0001528	Hemihypertrophy	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.	54
HP:0100555	HP:0001528	Hemihypertrophy	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040280 - Obligate	12
HP:0100555	HP:0001528	Hemihypertrophy	1	AKT2 CL E G H	208	392	OMIM:240900	Hypoinsulinemic hypoglycemia with hemihypertrophy	.	12
HP:0100555	HP:0100556	Hemiatrophy	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0100555	HP:0100559	Lower limb asymmetry	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0100555	HP:0001528	Hemihypertrophy	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.	114
HP:0100555	HP:0100559	Lower limb asymmetry	1	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040281 - Very frequent	284
HP:0100555	HP:0100559	Lower limb asymmetry	1	COL2A1 CL E G H	1280	2200	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	284
HP:0100555	HP:0100559	Lower limb asymmetry	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0100555	HP:0100559	Lower limb asymmetry	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0100555	HP:0100559	Lower limb asymmetry	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0100555	HP:0100559	Lower limb asymmetry	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0100555	HP:0001528	Hemihypertrophy	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0100555	HP:0100556	Hemiatrophy	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0100555	HP:0100559	Lower limb asymmetry	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100555	HP:0100560	Upper limb asymmetry	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata		51
HP:0100555	HP:0100556	Hemiatrophy	1	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome		27
HP:0100555	HP:0100559	Lower limb asymmetry	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0100555	HP:0100559	Lower limb asymmetry	1	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0100555	HP:0100559	Lower limb asymmetry	1	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0100555	HP:0100559	Lower limb asymmetry	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0100555	HP:0100559	Lower limb asymmetry	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0100555	HP:0100559	Lower limb asymmetry	1	GNAQ CL E G H	2776	4390	ORPHA:624	Familial multiple nevi flammei	HP:0040283 - Occasional	7
HP:0100555	HP:0100559	Lower limb asymmetry	1	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0100555	HP:0001528	Hemihypertrophy	1	H19 CL E G H	283120	4713	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	4
HP:0100555	HP:0100560	Upper limb asymmetry	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	4
HP:0100555	HP:0100559	Lower limb asymmetry	1	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	4
HP:0100555	HP:0001528	Hemihypertrophy	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0100555	HP:0001528	Hemihypertrophy	1	HNF1B CL E G H	6928	11630	ORPHA:1309	Medullary sponge kidney	HP:0040283 - Occasional	90
HP:0100555	HP:0100560	Upper limb asymmetry	1	HOXD13 CL E G H	3239	5136	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	25
HP:0100555	HP:0100556	Hemiatrophy	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100555	HP:0001528	Hemihypertrophy	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica		113
HP:0100555	HP:0001528	Hemihypertrophy	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0100555	HP:0100559	Lower limb asymmetry	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0100555	HP:0001528	Hemihypertrophy	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.	9
HP:0100555	HP:0001528	Hemihypertrophy	1	IGF2 CL E G H	3481	5466	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	9
HP:0100555	HP:0100559	Lower limb asymmetry	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	9
HP:0100555	HP:0100560	Upper limb asymmetry	1	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	9
HP:0100555	HP:0100559	Lower limb asymmetry	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome		34
HP:0100555	HP:0100559	Lower limb asymmetry	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0100555	HP:0001528	Hemihypertrophy	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.	730
HP:0100555	HP:0001528	Hemihypertrophy	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.	1
HP:0100555	HP:0001528	Hemihypertrophy	1	KCNQ1OT1 CL E G H	10984	6295	ORPHA:2128	Isolated hemihyperplasia	HP:0040281 - Very frequent	1
HP:0100555	HP:0100559	Lower limb asymmetry	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0100555	HP:0001528	Hemihypertrophy	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0100555	HP:0100559	Lower limb asymmetry	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100555	HP:0100559	Lower limb asymmetry	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13		2
HP:0100555	HP:0100560	Upper limb asymmetry	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0100555	HP:0100559	Lower limb asymmetry	1	MAPRE2 CL E G H	10982	6891	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	4
HP:0100555	HP:0100559	Lower limb asymmetry	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100555	HP:0100559	Lower limb asymmetry	1	MNX1 CL E G H	3110	4979	ORPHA:1552	Currarino syndrome	HP:0040283 - Occasional	17
HP:0100555	HP:0001528	Hemihypertrophy	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0100555	HP:0100559	Lower limb asymmetry	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100555	HP:0001528	Hemihypertrophy	1	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:0100555	HP:0100559	Lower limb asymmetry	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040283 - Occasional	162
HP:0100555	HP:0001528	Hemihypertrophy	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	HP:0040280 - Obligate	162
HP:0100555	HP:0100559	Lower limb asymmetry	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100555	HP:0100560	Upper limb asymmetry	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent	20
HP:0100555	HP:0100559	Lower limb asymmetry	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0100555	HP:0100559	Lower limb asymmetry	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100555	HP:0100556	Hemiatrophy	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0100555	HP:0100560	Upper limb asymmetry	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0100555	HP:0100559	Lower limb asymmetry	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040281 - Very frequent	948
HP:0100555	HP:0100559	Lower limb asymmetry	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040281 - Very frequent	948
HP:0100555	HP:0100559	Lower limb asymmetry	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0100555	HP:0100560	Upper limb asymmetry	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040281 - Very frequent	948
HP:0100555	HP:0100560	Upper limb asymmetry	1	PTHLH CL E G H	5744	9607	ORPHA:93387	Brachydactyly type E	HP:0040283 - Occasional	6
HP:0100555	HP:0100559	Lower limb asymmetry	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0100555	HP:0001528	Hemihypertrophy	1	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome		88
HP:0100555	HP:0100559	Lower limb asymmetry	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0100555	HP:0001528	Hemihypertrophy	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0100555	HP:0100559	Lower limb asymmetry	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0100555	HP:0100559	Lower limb asymmetry	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040283 - Occasional	34
HP:0100555	HP:0100559	Lower limb asymmetry	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional	43
HP:0100555	HP:0100559	Lower limb asymmetry	1	SETD5 CL E G H	55209	25566	OMIM:615761	MENTAL RETARDATION, AUTOSOMAL DOMINANT 23; MRD23		43
HP:0100555	HP:0100559	Lower limb asymmetry	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0100555	HP:0100559	Lower limb asymmetry	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0100555	HP:0100559	Lower limb asymmetry	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0100555	HP:0100559	Lower limb asymmetry	1	TRPV4 CL E G H	59341	18083	ORPHA:86820	Familial avascular necrosis of femoral head	HP:0040282 - Frequent	214
HP:0100555	HP:0100560	Upper limb asymmetry	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0100555	HP:0100559	Lower limb asymmetry	1	TUBB CL E G H	203068	20778	ORPHA:2505	Multiple benign circumferential skin creases on limbs	HP:0040283 - Occasional	14
HP:0100555	HP:0100559	Lower limb asymmetry	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0100555	HP:0100559	Lower limb asymmetry	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0100555	HP:0001528	Hemihypertrophy	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100555	HP:0100556	Hemiatrophy	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0100555	HP:0100558	Hemiatrophy of upper limb	2	CL E G H
HP:0100555	HP:0100557	Hemiatrophy of lower limb	2	CL E G H
HP:0100555	HP:0100554	Hemihypertrophy of upper limb	2	CL E G H
HP:0100555	HP:0200053	Hemihypotrophy of lower limb	2	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0100555	HP:0200053	Hemihypotrophy of lower limb	2	EFNB1 CL E G H	1947	3226	OMIM:304110	Craniofrontonasal syndrome	.	27
HP:0100555	HP:0200053	Hemihypotrophy of lower limb	2	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	4
HP:0100555	HP:0100553	Hemihypertrophy of lower limb	2	RASA1 CL E G H	5921	9871	ORPHA:90307	Parkes Weber syndrome	HP:0040282 - Frequent	88
HP:0100555	HP:0200053	Hemihypotrophy of lower limb	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (66) :ACTB AGGF1 AKT1 AKT2 ARL6IP6 BPTF CASZ1 CDKN1C COL2A1 CTSK DACT1 DMP1 DNMT3A EBP EFNB1 ENPP1 EXT1 EXT2 FN1 GABRD GNA11 GNAQ GRB10 H19 H19-ICR HMGA2 HNF1B HOXD13 HRAS HSPG2 IGF2 IKBKG KAT6A KCNAB2 KCNQ1 KCNQ1OT1 KRAS LUZP1 MAPK1 MAPRE2 MMP23B MNX1 NRAS PDPN PIK3CA PLAG1 PORCN PRDM16 PRKCZ PSMD12 PTEN PTHLH RASA1 RERE RNF125 SALL1 SATB2 SETD5 SKI SPEN TONSL TRPV4 TUBB UBE4B USP9X ZNF699

Diseases (51) :ORPHA:64755 ORPHA:90308 ORPHA:744 OMIM:176920 ORPHA:293964 OMIM:240900 ORPHA:1556 ORPHA:529962 ORPHA:1606 OMIM:130650 ORPHA:397590 ORPHA:85198 ORPHA:86820 ORPHA:93315 ORPHA:763 ORPHA:857 ORPHA:289176 OMIM:615879 OMIM:302960 ORPHA:35173 OMIM:304110 ORPHA:321 ORPHA:624 ORPHA:96182 ORPHA:2128 ORPHA:231140 ORPHA:1309 ORPHA:93387 ORPHA:2612 ORPHA:2874 OMIM:163200 ORPHA:464 OMIM:616268 OMIM:600268 OMIM:619087 ORPHA:2505 ORPHA:1552 OMIM:613089 OMIM:612918 ORPHA:60040 ORPHA:2092 ORPHA:2969 ORPHA:137608 ORPHA:90307 OMIM:616260 ORPHA:576283 ORPHA:404440 OMIM:615761 ORPHA:93357 OMIM:300968 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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