Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 midface morphology (HP:0000309)

Parent Node:
Abnormal cheek morphology (HP:0004426)

..Starting node
..Full cheeks (HP:0000293)

Term ID:

293

Name:

Full cheeks

Synonym:

Apple cheeks; Big cheeks; Chubby cheeks; Full cheeks; Hyperplasia of cheeks; Hypertrophy of cheeks; Increased size of cheeks; Large cheeks; Puffy cheeks

Definition:

Increased prominence or roundness of soft tissues between zygomata and mandible.

Comments:

Reference:

HP:0000293

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal buccal fat pad morphology (HP:3000021)

Abnormal buccal mucosa morphology (HP:3000019)

Abnormal periauricular region morphology (HP:0000383)

Abnormality of buccinator muscle (HP:3000027)

Abnormality of risorius muscle (HP:3000015)

Abnormality of zygomaticus major muscle (HP:3000018)

Abnormality of zygomaticus minor muscle (HP:3000020)

Sunken cheeks (HP:0009938)

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:0000293	HP:0000293	Full cheeks	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000293	HP:0000293	Full cheeks	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000293	HP:0000293	Full cheeks	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0000293	HP:0000293	Full cheeks	0	AGL CL E G H	178	321	ORPHA:366	Glycogen storage disease due to glycogen debranching enzyme deficiency	HP:0040281 - Very frequent	216
HP:0000293	HP:0000293	Full cheeks	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	95
HP:0000293	HP:0000293	Full cheeks	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040282 - Frequent	145
HP:0000293	HP:0000293	Full cheeks	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0000293	HP:0000293	Full cheeks	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000293	HP:0000293	Full cheeks	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000293	HP:0000293	Full cheeks	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0000293	HP:0000293	Full cheeks	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0000293	HP:0000293	Full cheeks	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	276
HP:0000293	HP:0000293	Full cheeks	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000293	HP:0000293	Full cheeks	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0000293	HP:0000293	Full cheeks	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0000293	HP:0000293	Full cheeks	0	CDK5 CL E G H	1020	1774	OMIM:616342	Lissencephaly 7 with cerebellar hypoplasia	.	3
HP:0000293	HP:0000293	Full cheeks	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000293	HP:0000293	Full cheeks	0	CLCF1 CL E G H	23529	17412	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	6
HP:0000293	HP:0000293	Full cheeks	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA		2
HP:0000293	HP:0000293	Full cheeks	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000293	HP:0000293	Full cheeks	0	CREBBP CL E G H	1387	2348	OMIM:618332	MENKE-HENNEKAM SYNDROME 1; MKHK1		291
HP:0000293	HP:0000293	Full cheeks	0	CRLF1 CL E G H	9244	2364	ORPHA:1545	Crisponi syndrome	HP:0040281 - Very frequent	24
HP:0000293	HP:0000293	Full cheeks	0	CRLF1 CL E G H	9244	2364	OMIM:272430	Crisponi/cold-induced sweating syndrome 1	.	24
HP:0000293	HP:0000293	Full cheeks	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000293	HP:0000293	Full cheeks	0	DDB1 CL E G H	1642	2717	OMIM:619426	WHITE-KERNOHAN SYNDROME; WHIKERS
HP:0000293	HP:0000293	Full cheeks	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000293	HP:0000293	Full cheeks	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0000293	HP:0000293	Full cheeks	0	DPYD CL E G H	1806	3012	ORPHA:293948	1p21.3 microdeletion syndrome	HP:0040282 - Frequent	144
HP:0000293	HP:0000293	Full cheeks	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0000293	HP:0000293	Full cheeks	0	EDN1 CL E G H	1906	3176	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	6
HP:0000293	HP:0000293	Full cheeks	0	EDN1 CL E G H	1906	3176	OMIM:615706	Auriculocondylar syndrome 3	.	6
HP:0000293	HP:0000293	Full cheeks	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38		60
HP:0000293	HP:0000293	Full cheeks	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040282 - Frequent	8
HP:0000293	HP:0000293	Full cheeks	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent	3
HP:0000293	HP:0000293	Full cheeks	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000293	HP:0000293	Full cheeks	0	EP300 CL E G H	2033	3373	OMIM:618333	MENKE-HENNEKAM SYNDROME 2; MKHK2		250
HP:0000293	HP:0000293	Full cheeks	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0000293	HP:0000293	Full cheeks	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0000293	HP:0000293	Full cheeks	0	EYA1 CL E G H	2138	3519	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	135
HP:0000293	HP:0000293	Full cheeks	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2		1361
HP:0000293	HP:0000293	Full cheeks	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040282 - Frequent	18
HP:0000293	HP:0000293	Full cheeks	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0000293	HP:0000293	Full cheeks	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent	493
HP:0000293	HP:0000293	Full cheeks	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0000293	HP:0000293	Full cheeks	0	GNAI3 CL E G H	2773	4387	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	2
HP:0000293	HP:0000293	Full cheeks	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent	101
HP:0000293	HP:0000293	Full cheeks	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	101
HP:0000293	HP:0000293	Full cheeks	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0000293	HP:0000293	Full cheeks	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0000293	HP:0000293	Full cheeks	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0000293	HP:0000293	Full cheeks	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.	101
HP:0000293	HP:0000293	Full cheeks	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000293	HP:0000293	Full cheeks	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040281 - Very frequent	5
HP:0000293	HP:0000293	Full cheeks	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome	.
HP:0000293	HP:0000293	Full cheeks	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0000293	HP:0000293	Full cheeks	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent	113
HP:0000293	HP:0000293	Full cheeks	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0000293	HP:0000293	Full cheeks	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000293	HP:0000293	Full cheeks	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040281 - Very frequent	345
HP:0000293	HP:0000293	Full cheeks	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000293	HP:0000293	Full cheeks	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0000293	HP:0000293	Full cheeks	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent	86
HP:0000293	HP:0000293	Full cheeks	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent	86
HP:0000293	HP:0000293	Full cheeks	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent	115
HP:0000293	HP:0000293	Full cheeks	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0000293	HP:0000293	Full cheeks	0	IDUA CL E G H	3425	5391	OMIM:607016	Scheie syndrome	.	115
HP:0000293	HP:0000293	Full cheeks	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.	6
HP:0000293	HP:0000293	Full cheeks	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0000293	HP:0000293	Full cheeks	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0000293	HP:0000293	Full cheeks	0	IFT52 CL E G H	51098	15901	OMIM:617102	Short-Rib thoracic dysplasia 16 with or without polydactyly	.	4
HP:0000293	HP:0000293	Full cheeks	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000293	HP:0000293	Full cheeks	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0000293	HP:0000293	Full cheeks	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0000293	HP:0000293	Full cheeks	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000293	HP:0000293	Full cheeks	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0000293	HP:0000293	Full cheeks	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0000293	HP:0000293	Full cheeks	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0000293	HP:0000293	Full cheeks	0	KLHL7 CL E G H	55975	15646	OMIM:617055	Crisponi/cold-Induced sweating syndrome 3	.	42
HP:0000293	HP:0000293	Full cheeks	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0000293	HP:0000293	Full cheeks	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.	1
HP:0000293	HP:0000293	Full cheeks	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	196
HP:0000293	HP:0000293	Full cheeks	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	HP:0040283 - Occasional
HP:0000293	HP:0000293	Full cheeks	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0000293	HP:0000293	Full cheeks	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.	645
HP:0000293	HP:0000293	Full cheeks	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0000293	HP:0000293	Full cheeks	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	134
HP:0000293	HP:0000293	Full cheeks	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent	178
HP:0000293	HP:0000293	Full cheeks	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome	.	11
HP:0000293	HP:0000293	Full cheeks	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0000293	HP:0000293	Full cheeks	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	HP:0040283 - Occasional	11
HP:0000293	HP:0000293	Full cheeks	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0000293	HP:0000293	Full cheeks	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0000293	HP:0000293	Full cheeks	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000293	HP:0000293	Full cheeks	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000293	HP:0000293	Full cheeks	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0000293	HP:0000293	Full cheeks	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0000293	HP:0000293	Full cheeks	0	NALCN CL E G H	259232	19082	OMIM:616266	Congenital contractures of the limbs and face, hypotonia, and developmental delay	.	48
HP:0000293	HP:0000293	Full cheeks	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.	9
HP:0000293	HP:0000293	Full cheeks	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0000293	HP:0000293	Full cheeks	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0000293	HP:0000293	Full cheeks	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000293	HP:0000293	Full cheeks	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0000293	HP:0000293	Full cheeks	0	PAX1 CL E G H	5075	8615	ORPHA:2792	Otofaciocervical syndrome	HP:0040281 - Very frequent	3
HP:0000293	HP:0000293	Full cheeks	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0000293	HP:0000293	Full cheeks	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040282 - Frequent	531
HP:0000293	HP:0000293	Full cheeks	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0000293	HP:0000293	Full cheeks	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0000293	HP:0000293	Full cheeks	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0000293	HP:0000293	Full cheeks	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0000293	HP:0000293	Full cheeks	0	PLCB4 CL E G H	5332	9059	ORPHA:137888	Auriculocondylar syndrome	HP:0040282 - Frequent	82
HP:0000293	HP:0000293	Full cheeks	0	PPP1R15B CL E G H	84919	14951	OMIM:616817	Microcephaly, short stature, and impaired glucose metabolism 2	HP:0040283 - Occasional	2
HP:0000293	HP:0000293	Full cheeks	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000293	HP:0000293	Full cheeks	0	PSPH CL E G H	5723	9577	ORPHA:79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	HP:0040283 - Occasional	54
HP:0000293	HP:0000293	Full cheeks	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent	19
HP:0000293	HP:0000293	Full cheeks	0	PURA CL E G H	5813	9701	ORPHA:438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	HP:0040283 - Occasional	53
HP:0000293	HP:0000293	Full cheeks	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000293	HP:0000293	Full cheeks	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000293	HP:0000293	Full cheeks	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0000293	HP:0000293	Full cheeks	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0000293	HP:0000293	Full cheeks	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID		6
HP:0000293	HP:0000293	Full cheeks	0	SETD1B CL E G H	23067	29187	OMIM:619000	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEIZURES AND LANGUAGE DELAY; IDDSELD
HP:0000293	HP:0000293	Full cheeks	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040281 - Very frequent	177
HP:0000293	HP:0000293	Full cheeks	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0000293	HP:0000293	Full cheeks	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000293	HP:0000293	Full cheeks	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000293	HP:0000293	Full cheeks	0	SIM1 CL E G H	6492	10882	ORPHA:171829	6q16 microdeletion syndrome	HP:0040282 - Frequent	40
HP:0000293	HP:0000293	Full cheeks	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040282 - Frequent	166
HP:0000293	HP:0000293	Full cheeks	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0000293	HP:0000293	Full cheeks	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0000293	HP:0000293	Full cheeks	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent	110
HP:0000293	HP:0000293	Full cheeks	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0000293	HP:0000293	Full cheeks	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0000293	HP:0000293	Full cheeks	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0000293	HP:0000293	Full cheeks	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0000293	HP:0000293	Full cheeks	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000293	HP:0000293	Full cheeks	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000293	HP:0000293	Full cheeks	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	86
HP:0000293	HP:0000293	Full cheeks	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0000293	HP:0000293	Full cheeks	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0000293	HP:0000293	Full cheeks	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0000293	HP:0000293	Full cheeks	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome	.	22
HP:0000293	HP:0000293	Full cheeks	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome	.	241
HP:0000293	HP:0000293	Full cheeks	0	TCF4 CL E G H	6925	11634	ORPHA:2896	Pitt-Hopkins syndrome	HP:0040281 - Very frequent	241
HP:0000293	HP:0000293	Full cheeks	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000293	HP:0000293	Full cheeks	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000293	HP:0000293	Full cheeks	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000293	HP:0000293	Full cheeks	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0000293	HP:0000293	Full cheeks	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000293	HP:0000293	Full cheeks	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent	6
HP:0000293	HP:0000293	Full cheeks	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000293	HP:0000293	Full cheeks	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000293	HP:0000293	Full cheeks	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000293	HP:0000293	Full cheeks	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000293	HP:0000293	Full cheeks	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000293	HP:0000293	Full cheeks	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000293	HP:0000293	Full cheeks	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000293	HP:0000293	Full cheeks	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0000293	HP:0000293	Full cheeks	0	WAC CL E G H	51322	17327	OMIM:616708	Desanto-Shinawi syndrome	.	20
HP:0000293	HP:0000293	Full cheeks	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040282 - Frequent	20
HP:0000293	HP:0000293	Full cheeks	0	WDR19 CL E G H	57728	18340	OMIM:614378	Cranioectodermal dysplasia 4	HP:0040283 - Occasional	95
HP:0000293	HP:0000293	Full cheeks	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly	.	95
HP:0000293	HP:0000293	Full cheeks	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040281 - Very frequent	8
HP:0000293	HP:0000293	Full cheeks	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0000293	HP:0000293	Full cheeks	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0000293	HP:0000293	Full cheeks	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0000293	HP:0000293	Full cheeks	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1
HP:0000293	HP:0000293	Full cheeks	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0000293	HP:0000293	Full cheeks	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF

Genes (141) :ACTB ACTG1 AFF4 AGL AIP ASXL1 ATP7A B9D1 B9D2 BICRA BMP2 BRAF CC2D2A CCDC88A CDC42BPB CDK5 CEP290 CLCF1 CLCN3 CPE CREBBP CRLF1 CSPP1 DDB1 DLK1 DPM1 DPYD DTYMK EDN1 EEF1A2 EIF2S3 ELMO2 ELN EP300 EXTL3 EYA1 FBN1 FGF3 FLNA GATA4 GNAI3 GNAS GNB2 GPR101 H1-4 HEATR3 HRAS HSPG2 IARS1 IDS IDUA IER3IP1 IFT122 IFT140 IFT52 INTS1 KCNH1 KDM6B KIDINS220 KIF11 KIF1A KLHL7 KMT2B KMT2E KRAS LARS1 LIFR LMNA LMX1B MAP2K1 MAP2K2 MAP3K7 MAPK8IP3 MEG3 MKS1 MLXIPL MOCS1 MOCS2 NALCN NEK9 NOTCH2 NRAS OCRL PAX1 PCLO PCNT PIGB PIGN PIGQ PIK3CA PLCB4 PPP1R15B PSPH PUF60 PURA RPGRIP1 RPGRIP1L RTL1 SC5D SETD1A SETD1B SH3BP2 SH3PXD2B SHANK3 SIM1 SLC26A2 SLC29A3 SLC35A2 SLC37A4 SNX14 SON SOX11 SPTBN1 STAG2 STX16 STXBP1 TAFAZZIN TBCE TBL1XR1 TCF4 TCTN1 TCTN2 TCTN3 TECPR2 TFE3 TGDS TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TRMT10A TXNDC15 VPS33A WAC WDR19 WDR26 WDR35 YARS1 ZNHIT3 ZPR1

Diseases (134) :ORPHA:2995 ORPHA:444077 ORPHA:366 ORPHA:963 ORPHA:97297 ORPHA:565 ORPHA:564 OMIM:619325 ORPHA:261295 ORPHA:1340 OMIM:617507 OMIM:619841 OMIM:616342 ORPHA:1545 OMIM:619512 OMIM:619326 OMIM:618332 OMIM:272430 OMIM:619426 ORPHA:96184 ORPHA:79322 ORPHA:293948 OMIM:619847 ORPHA:137888 OMIM:615706 OMIM:616393 ORPHA:85282 ORPHA:3019 OMIM:194050 OMIM:618333 OMIM:617425 ORPHA:508533 ORPHA:2792 OMIM:614185 ORPHA:2791 ORPHA:1826 ORPHA:2484 ORPHA:251071 ORPHA:79443 ORPHA:94089 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:612463 OMIM:619503 OMIM:617537 OMIM:620072 ORPHA:3071 OMIM:218040 OMIM:137550 ORPHA:800 OMIM:255800 ORPHA:541423 ORPHA:217093 ORPHA:217085 ORPHA:93473 OMIM:607014 OMIM:607016 OMIM:614231 OMIM:218330 OMIM:266920 OMIM:617102 OMIM:618571 ORPHA:420561 OMIM:135500 OMIM:618505 OMIM:617296 ORPHA:2526 ORPHA:2836 OMIM:617055 OMIM:619934 OMIM:618512 OMIM:615438 OMIM:601559 OMIM:248370 ORPHA:495818 OMIM:157800 OMIM:617137 OMIM:618443 OMIM:252150 OMIM:252160 OMIM:616266 OMIM:614262 ORPHA:955 OMIM:102500 ORPHA:534 OMIM:608027 ORPHA:2637 OMIM:618580 ORPHA:280633 OMIM:618548 ORPHA:60040 OMIM:616817 ORPHA:391408 ORPHA:79350 ORPHA:508488 ORPHA:438216 ORPHA:46059 OMIM:619056 OMIM:619000 ORPHA:184 OMIM:249420 ORPHA:48652 OMIM:606232 ORPHA:171829 ORPHA:628 ORPHA:168569 OMIM:300896 ORPHA:79259 ORPHA:397709 ORPHA:500150 OMIM:617140 OMIM:615866 OMIM:619475 OMIM:301022 OMIM:302060 ORPHA:93324 OMIM:602342 OMIM:610954 ORPHA:2896 ORPHA:320385 OMIM:301066 ORPHA:1388 ORPHA:505248 OMIM:616708 ORPHA:284169 OMIM:614378 OMIM:614376 ORPHA:513456 OMIM:617616 OMIM:613610 OMIM:619418 OMIM:260565 OMIM:619321

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen