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:
Abnormal facial skeleton morphology (HP:0011821)

Parent Node:
Abnormal zygomatic bone morphology (HP:0010668)

Parent Node:
Hypoplastic facial bones (HP:0002692)

..Starting node
..Hypoplasia of the zygomatic bone (HP:0010669)

Term ID:

10669

Name:

Hypoplasia of the zygomatic bone

Synonym:

Cheekbone underdevelopment; Decreased size of cheekbone; Decreased size of zygomatic bone; Depressed cheekbone; Depressed zygomatic bone; Flattening of the zygomatic bone; Hypoplasia of cheekbone; Hypotrophic cheekbone; Hypotrophic zygomatic bone; Hypotrophy of the cheekbone; Hypotrophy of the zygomatic bone; Small cheekbone; Small malar bone; Small zygomatic bone; Underdevelopment of cheekbone; Underdevelopment of zygomatic bone

Definition:

Underdevelopment of the zygomatic bone. That is, a reduction in size of the zygomatic bone, including the zygomatic process of the temporal bone of the skull, which forms part of the zygomatic arch.

Comments:

Reference:

HP:0010669

Genes and Diseases:

Child Nodes:

........

Maxillozygomatic hypoplasia (HP:0005439)

Sister Nodes:

Hypoplasia of the frontal bone (HP:0005466)

Hypoplasia of the premaxilla (HP:0010650)

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:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	276
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040283 - Occasional	2
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	172
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	196
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	134
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent	178
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	1
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent	13
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	NECTIN1 CL E G H	5818	9706	ORPHA:3253	Cleft lip/palate-ectodermal dysplasia syndrome	HP:0040282 - Frequent	4
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional	66
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040281 - Very frequent	49
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0010669	HP:0010669	Hypoplasia of the zygomatic bone	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0010669	HP:0005439	Maxillozygomatic hypoplasia	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2

Genes (43) :BAZ1B BCL7B BRAF BUD23 CHD7 CLIP2 CNOT1 COL11A1 DNAJC30 EIF4H ELN FGFR2 FKBP6 GTF2I GTF2IRD1 GTF2IRD2 KRAS LIMK1 MAP2K1 MAP2K2 METTL27 MLXIPL NBAS NCF1 NECTIN1 NOTCH2 OFD1 PEPD POLR1B POLR1C POLR1D RFC2 RUNX2 SEMA3E SF3B2 SF3B4 STX1A TBL2 TCOF1 TMEM270 TWIST2 VPS13B VPS37D

Diseases (20) :ORPHA:904 ORPHA:1340 ORPHA:138 ORPHA:556955 ORPHA:560 ORPHA:1555 OMIM:614800 ORPHA:3253 ORPHA:955 ORPHA:2750 ORPHA:742 ORPHA:861 OMIM:248390 OMIM:613717 ORPHA:1452 OMIM:164210 ORPHA:245 ORPHA:920 OMIM:200110 ORPHA:193

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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