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:
Increased head circumference (HP:0040194)

Parent Node:
Macrocephaly (HP:0000256)

..Starting node
..Relative macrocephaly (HP:0004482)

Term ID:

4482

Name:

Relative macrocephaly

Synonym:

Disproportionately large head; Macrocephaly, relative; Relatively large head

Definition:

A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.

Comments:

Reference:

HP:0004482

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macrocephaly at birth (HP:0004488)

Postnatal macrocephaly (HP:0005490)

Progressive macrocephaly (HP:0004481)

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:0004482	HP:0004482	Relative macrocephaly	0	ACAN CL E G H	176	319	ORPHA:171866	Spondyloepimetaphyseal dysplasia, aggrecan type	HP:0040281 - Very frequent	34
HP:0004482	HP:0004482	Relative macrocephaly	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0004482	HP:0004482	Relative macrocephaly	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0004482	HP:0004482	Relative macrocephaly	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0004482	HP:0004482	Relative macrocephaly	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.	1
HP:0004482	HP:0004482	Relative macrocephaly	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0004482	HP:0004482	Relative macrocephaly	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.	276
HP:0004482	HP:0004482	Relative macrocephaly	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	114
HP:0004482	HP:0004482	Relative macrocephaly	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0004482	HP:0004482	Relative macrocephaly	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0004482	HP:0004482	Relative macrocephaly	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.	72
HP:0004482	HP:0004482	Relative macrocephaly	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0004482	HP:0004482	Relative macrocephaly	0	DOCK3 CL E G H	1795	2989	OMIM:618292	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia		3
HP:0004482	HP:0004482	Relative macrocephaly	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional	3
HP:0004482	HP:0004482	Relative macrocephaly	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.	301
HP:0004482	HP:0004482	Relative macrocephaly	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:0004482	HP:0004482	Relative macrocephaly	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	4
HP:0004482	HP:0004482	Relative macrocephaly	0	H19 CL E G H	283120	4713	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	4
HP:0004482	HP:0004482	Relative macrocephaly	0	HMGA2 CL E G H	8091	5009	OMIM:618908	SILVER-RUSSELL SYNDROME 5; SRS5		2
HP:0004482	HP:0004482	Relative macrocephaly	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	2
HP:0004482	HP:0004482	Relative macrocephaly	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly		2
HP:0004482	HP:0004482	Relative macrocephaly	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	.	9
HP:0004482	HP:0004482	Relative macrocephaly	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional	9
HP:0004482	HP:0004482	Relative macrocephaly	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	9
HP:0004482	HP:0004482	Relative macrocephaly	0	IGF2 CL E G H	3481	5466	ORPHA:231140	Silver-Russell syndrome due to an imprinting defect of 11p15	HP:0040282 - Frequent	9
HP:0004482	HP:0004482	Relative macrocephaly	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0004482	HP:0004482	Relative macrocephaly	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0004482	HP:0004482	Relative macrocephaly	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent	3
HP:0004482	HP:0004482	Relative macrocephaly	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0004482	HP:0004482	Relative macrocephaly	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0004482	HP:0004482	Relative macrocephaly	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:0004482	HP:0004482	Relative macrocephaly	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0004482	HP:0004482	Relative macrocephaly	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0004482	HP:0004482	Relative macrocephaly	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional	1
HP:0004482	HP:0004482	Relative macrocephaly	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0004482	HP:0004482	Relative macrocephaly	0	NF1 CL E G H	4763	7765	OMIM:193520	Watson syndrome	.	1952
HP:0004482	HP:0004482	Relative macrocephaly	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040281 - Very frequent	10
HP:0004482	HP:0004482	Relative macrocephaly	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0004482	HP:0004482	Relative macrocephaly	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0004482	HP:0004482	Relative macrocephaly	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2	.	143
HP:0004482	HP:0004482	Relative macrocephaly	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0004482	HP:0004482	Relative macrocephaly	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040281 - Very frequent	3
HP:0004482	HP:0004482	Relative macrocephaly	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0004482	HP:0004482	Relative macrocephaly	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0004482	HP:0004482	Relative macrocephaly	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0004482	HP:0004482	Relative macrocephaly	0	POP1 CL E G H	10940	30129	OMIM:617396	Anauxetic dysplasia 2	HP:0040283 - Occasional	6
HP:0004482	HP:0004482	Relative macrocephaly	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0004482	HP:0004482	Relative macrocephaly	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0004482	HP:0004482	Relative macrocephaly	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0004482	HP:0004482	Relative macrocephaly	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0004482	HP:0004482	Relative macrocephaly	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0004482	HP:0004482	Relative macrocephaly	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0004482	HP:0004482	Relative macrocephaly	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1		74
HP:0004482	HP:0004482	Relative macrocephaly	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040282 - Frequent	14
HP:0004482	HP:0004482	Relative macrocephaly	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20	.	14
HP:0004482	HP:0004482	Relative macrocephaly	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0004482	HP:0004482	Relative macrocephaly	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0004482	HP:0004482	Relative macrocephaly	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0004482	HP:0004482	Relative macrocephaly	0	THRA CL E G H	7067	11796	OMIM:614450	Hypothyroidism, congenital, nongoitrous, 6	.	9
HP:0004482	HP:0004482	Relative macrocephaly	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0004482	HP:0004482	Relative macrocephaly	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0004482	HP:0004482	Relative macrocephaly	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0004482	HP:0004482	Relative macrocephaly	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133
HP:0004482	HP:0004482	Relative macrocephaly	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0004482	HP:0004482	Relative macrocephaly	0	USP9X CL E G H	8239	12632	OMIM:300919	MENTAL RETARDATION, X-LINKED 99; MRX99		27
HP:0004482	HP:0004482	Relative macrocephaly	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0004482	HP:0004482	Relative macrocephaly	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2	.	14
HP:0004482	HP:0004482	Relative macrocephaly	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040283 - Occasional	14
HP:0004482	HP:0004482	Relative macrocephaly	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83

Genes (55) :ACAN ACER3 APC APC2 BGN BRAF CDKN1C CEP120 CUL4B DHCR24 DLK1 DOCK3 DPH1 FH GRB10 H19 HMGA2 IFT81 IGF2 IHH ITCH LAMA5 LBR LMNA LZTR1 MEG3 MRAS NF1 NONO NXN OBSL1 PCGF2 PLAG1 POLE POLR3A POP1 PPP1CB PTDSS1 RIT1 RTL1 SATB2 SERPINH1 SHOC2 SNX14 SON SOX9 THRA TNFRSF11B TONSL TRIP11 USP7 USP9X VPS35L XYLT1 ZMPSTE24

Diseases (61) :ORPHA:171866 OMIM:612813 OMIM:617762 ORPHA:261584 OMIM:617169 OMIM:300989 OMIM:115150 ORPHA:397590 OMIM:616300 OMIM:300354 OMIM:602398 ORPHA:254525 OMIM:618292 ORPHA:459061 OMIM:606812 ORPHA:96182 ORPHA:231144 ORPHA:231140 OMIM:618908 OMIM:617895 OMIM:616489 OMIM:607778 OMIM:613385 ORPHA:228426 OMIM:620076 OMIM:618019 ORPHA:740 OMIM:616564 OMIM:605275 OMIM:618499 OMIM:193520 ORPHA:466791 OMIM:300967 OMIM:618529 OMIM:612921 OMIM:618371 OMIM:615139 OMIM:618336 ORPHA:3455 OMIM:617396 OMIM:617506 OMIM:151050 OMIM:615355 ORPHA:251028 OMIM:613848 OMIM:607721 ORPHA:397709 OMIM:616354 ORPHA:500150 OMIM:617140 OMIM:114290 OMIM:614450 OMIM:239000 ORPHA:93357 OMIM:271510 OMIM:184260 ORPHA:500055 OMIM:300919 OMIM:619135 OMIM:615777 ORPHA:370930

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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