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:
Abnormal midface morphology (HP:0000309)

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

Parent Node:
obsolete Abnormal malar bone morphology (HP:0012369)

..Starting node
..Malar flattening (HP:0000272)

Term ID:

272

Name:

Malar flattening

Synonym:

Decreased size of malar bone; Depressed malar region; Flat cheekbone; Hypotrophic malar bone; Malar hypoplasia; Underdevelopment of malar bone; Zygomatic flattening

Definition:

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

Comments:

Reference:

HP:0000272

Genes and Diseases:

Child Nodes:

Sister Nodes:

Malar prominence (HP:0010620)

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:0000272	HP:0000272	Malar flattening	0	ACAN CL E G H	176	319	OMIM:612813	Spondyloepimetaphyseal dysplasia, Aggrecan type		34
HP:0000272	HP:0000272	Malar flattening	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	19
HP:0000272	HP:0000272	Malar flattening	0	ADAMTSL4 CL E G H	54507	19706	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent	84
HP:0000272	HP:0000272	Malar flattening	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.	216
HP:0000272	HP:0000272	Malar flattening	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0000272	HP:0000272	Malar flattening	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	2
HP:0000272	HP:0000272	Malar flattening	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0000272	HP:0000272	Malar flattening	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040282 - Frequent	219
HP:0000272	HP:0000272	Malar flattening	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	1
HP:0000272	HP:0000272	Malar flattening	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs		4
HP:0000272	HP:0000272	Malar flattening	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0000272	HP:0000272	Malar flattening	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0000272	HP:0000272	Malar flattening	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0000272	HP:0000272	Malar flattening	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0000272	HP:0000272	Malar flattening	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0000272	HP:0000272	Malar flattening	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.	169
HP:0000272	HP:0000272	Malar flattening	0	ATRX CL E G H	546	886	OMIM:309580	Mental retardation-hypotonic facies syndrome, X-linked, 1	.	169
HP:0000272	HP:0000272	Malar flattening	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0000272	HP:0000272	Malar flattening	0	BBS7 CL E G H	55212	18758	OMIM:615984	BARDET-BIEDL SYNDROME 7; BBS7		66
HP:0000272	HP:0000272	Malar flattening	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0000272	HP:0000272	Malar flattening	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	.	7
HP:0000272	HP:0000272	Malar flattening	0	BLM CL E G H	641	1058	ORPHA:125	Bloom syndrome	HP:0040282 - Frequent	314
HP:0000272	HP:0000272	Malar flattening	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0000272	HP:0000272	Malar flattening	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040282 - Frequent	13
HP:0000272	HP:0000272	Malar flattening	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0000272	HP:0000272	Malar flattening	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0000272	HP:0000272	Malar flattening	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.	147
HP:0000272	HP:0000272	Malar flattening	0	CDH11 CL E G H	1009	1750	OMIM:211380	Elsahy-Waters syndrome	.	2
HP:0000272	HP:0000272	Malar flattening	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000272	HP:0000272	Malar flattening	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000272	HP:0000272	Malar flattening	0	COG4 CL E G H	25839	18620	ORPHA:85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	HP:0040281 - Very frequent	67
HP:0000272	HP:0000272	Malar flattening	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	215
HP:0000272	HP:0000272	Malar flattening	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0000272	HP:0000272	Malar flattening	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0000272	HP:0000272	Malar flattening	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040281 - Very frequent	215
HP:0000272	HP:0000272	Malar flattening	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.	215
HP:0000272	HP:0000272	Malar flattening	0	COL11A2 CL E G H	1302	2187	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent	222
HP:0000272	HP:0000272	Malar flattening	0	COL11A2 CL E G H	1302	2187	OMIM:614524	Fibrochondrogenesis 2	.	222
HP:0000272	HP:0000272	Malar flattening	0	COL11A2 CL E G H	1302	2187	OMIM:215150	Otospondylomegaepiphyseal dysplasia	.	222
HP:0000272	HP:0000272	Malar flattening	0	COL11A2 CL E G H	1302	2187	OMIM:184840	Stickler syndrome, type III	.	222
HP:0000272	HP:0000272	Malar flattening	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0000272	HP:0000272	Malar flattening	0	COL2A1 CL E G H	1280	2200	ORPHA:166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	HP:0040281 - Very frequent	284
HP:0000272	HP:0000272	Malar flattening	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000272	HP:0000272	Malar flattening	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent	284
HP:0000272	HP:0000272	Malar flattening	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0000272	HP:0000272	Malar flattening	0	COL2A1 CL E G H	1280	2200	OMIM:271700	Spondyloperipheral dysplasia	.	284
HP:0000272	HP:0000272	Malar flattening	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.	284
HP:0000272	HP:0000272	Malar flattening	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0000272	HP:0000272	Malar flattening	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0000272	HP:0000272	Malar flattening	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0000272	HP:0000272	Malar flattening	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	137
HP:0000272	HP:0000272	Malar flattening	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	6
HP:0000272	HP:0000272	Malar flattening	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0000272	HP:0000272	Malar flattening	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0000272	HP:0000272	Malar flattening	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.	27
HP:0000272	HP:0000272	Malar flattening	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0000272	HP:0000272	Malar flattening	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000272	HP:0000272	Malar flattening	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0000272	HP:0000272	Malar flattening	0	DLG3 CL E G H	1741	2902	OMIM:300850	MENTAL RETARDATION, X-LINKED 90; MRX90		30
HP:0000272	HP:0000272	Malar flattening	0	DNMT3B CL E G H	1789	2979	OMIM:242860	Immunodeficiency-Centromeric instability-facial anomalies syndrome	.	79
HP:0000272	HP:0000272	Malar flattening	0	DVL1 CL E G H	1855	3084	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	14
HP:0000272	HP:0000272	Malar flattening	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0000272	HP:0000272	Malar flattening	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0000272	HP:0000272	Malar flattening	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0000272	HP:0000272	Malar flattening	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome		223
HP:0000272	HP:0000272	Malar flattening	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0000272	HP:0000272	Malar flattening	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4	.	12
HP:0000272	HP:0000272	Malar flattening	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040281 - Very frequent	92
HP:0000272	HP:0000272	Malar flattening	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000272	HP:0000272	Malar flattening	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	35
HP:0000272	HP:0000272	Malar flattening	0	FAM50A CL E G H	9130	18786	OMIM:300261	Mental retardation syndrome, X-linked, Armfield type	HP:0040283 - Occasional
HP:0000272	HP:0000272	Malar flattening	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.	114
HP:0000272	HP:0000272	Malar flattening	0	FBN1 CL E G H	2200	3603	ORPHA:1885	Isolated ectopia lentis	HP:0040282 - Frequent	1361
HP:0000272	HP:0000272	Malar flattening	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0000272	HP:0000272	Malar flattening	0	FGFR1 CL E G H	2260	3688	OMIM:123150	Jackson-Weiss syndrome	.	172
HP:0000272	HP:0000272	Malar flattening	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome	.	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	.	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	OMIM:123150	Jackson-Weiss syndrome	.	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0000272	HP:0000272	Malar flattening	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0000272	HP:0000272	Malar flattening	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0000272	HP:0000272	Malar flattening	0	FGFR3 CL E G H	2261	3690	OMIM:146000	HYPOCHONDROPLASIA	.	145
HP:0000272	HP:0000272	Malar flattening	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0000272	HP:0000272	Malar flattening	0	FGFR3 CL E G H	2261	3690	OMIM:602849	Muenke syndrome	.	145
HP:0000272	HP:0000272	Malar flattening	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040281 - Very frequent	493
HP:0000272	HP:0000272	Malar flattening	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0000272	HP:0000272	Malar flattening	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0000272	HP:0000272	Malar flattening	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0000272	HP:0000272	Malar flattening	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0000272	HP:0000272	Malar flattening	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0000272	HP:0000272	Malar flattening	0	FLNB CL E G H	2317	3755	ORPHA:503	Larsen syndrome	HP:0040281 - Very frequent	233
HP:0000272	HP:0000272	Malar flattening	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:0000272	HP:0000272	Malar flattening	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0000272	HP:0000272	Malar flattening	0	FOXP1 CL E G H	27086	3823	OMIM:613670	Mental retardation with language impairment and with or without autistic features		184
HP:0000272	HP:0000272	Malar flattening	0	FZD2 CL E G H	2535	4040	ORPHA:93328	Autosomal dominant omodysplasia	HP:0040282 - Frequent
HP:0000272	HP:0000272	Malar flattening	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.	29
HP:0000272	HP:0000272	Malar flattening	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000272	HP:0000272	Malar flattening	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000272	HP:0000272	Malar flattening	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9		173
HP:0000272	HP:0000272	Malar flattening	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	52
HP:0000272	HP:0000272	Malar flattening	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0000272	HP:0000272	Malar flattening	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	8
HP:0000272	HP:0000272	Malar flattening	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0000272	HP:0000272	Malar flattening	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0000272	HP:0000272	Malar flattening	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.	3
HP:0000272	HP:0000272	Malar flattening	0	HBA1 CL E G H	3039	4823	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	200
HP:0000272	HP:0000272	Malar flattening	0	HBA2 CL E G H	3040	4824	ORPHA:98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	HP:0040282 - Frequent	88
HP:0000272	HP:0000272	Malar flattening	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000272	HP:0000272	Malar flattening	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0000272	HP:0000272	Malar flattening	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0000272	HP:0000272	Malar flattening	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	3
HP:0000272	HP:0000272	Malar flattening	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0000272	HP:0000272	Malar flattening	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.	345
HP:0000272	HP:0000272	Malar flattening	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.	345
HP:0000272	HP:0000272	Malar flattening	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0000272	HP:0000272	Malar flattening	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent
HP:0000272	HP:0000272	Malar flattening	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	2
HP:0000272	HP:0000272	Malar flattening	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040281 - Very frequent	5
HP:0000272	HP:0000272	Malar flattening	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional	13
HP:0000272	HP:0000272	Malar flattening	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0000272	HP:0000272	Malar flattening	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	276
HP:0000272	HP:0000272	Malar flattening	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0000272	HP:0000272	Malar flattening	0	KIF7 CL E G H	374654	30497	OMIM:607131	Al-Gazali-Bakalinova syndrome	.	167
HP:0000272	HP:0000272	Malar flattening	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040282 - Frequent	16
HP:0000272	HP:0000272	Malar flattening	0	LARP7 CL E G H	51574	24912	OMIM:615071	Alazami syndrome	.	16
HP:0000272	HP:0000272	Malar flattening	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0000272	HP:0000272	Malar flattening	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0000272	HP:0000272	Malar flattening	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	4
HP:0000272	HP:0000272	Malar flattening	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome	.	289
HP:0000272	HP:0000272	Malar flattening	0	LRP4 CL E G H	4038	6696	OMIM:212780	Cenani-Lenz syndactyly syndrome		124
HP:0000272	HP:0000272	Malar flattening	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0000272	HP:0000272	Malar flattening	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.	191
HP:0000272	HP:0000272	Malar flattening	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0000272	HP:0000272	Malar flattening	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	.	21
HP:0000272	HP:0000272	Malar flattening	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000272	HP:0000272	Malar flattening	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000272	HP:0000272	Malar flattening	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	136
HP:0000272	HP:0000272	Malar flattening	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0000272	HP:0000272	Malar flattening	0	MBD5 CL E G H	55777	20444	ORPHA:228402	2q23.1 microdeletion syndrome	HP:0040282 - Frequent	252
HP:0000272	HP:0000272	Malar flattening	0	MECP2 CL E G H	4204	6990	OMIM:300260	Mental retardation, x-linked syndromic, Lubs type		950
HP:0000272	HP:0000272	Malar flattening	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000272	HP:0000272	Malar flattening	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.	33
HP:0000272	HP:0000272	Malar flattening	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0000272	HP:0000272	Malar flattening	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000272	HP:0000272	Malar flattening	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040283 - Occasional	39
HP:0000272	HP:0000272	Malar flattening	0	NECTIN1 CL E G H	5818	9706	OMIM:225060	Cleft lip/palate-ectodermal dysplasia syndrome	.	4
HP:0000272	HP:0000272	Malar flattening	0	NF1 CL E G H	4763	7765	ORPHA:139474	17q11.2 microduplication syndrome	HP:0040283 - Occasional	1952
HP:0000272	HP:0000272	Malar flattening	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0000272	HP:0000272	Malar flattening	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0000272	HP:0000272	Malar flattening	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0000272	HP:0000272	Malar flattening	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000272	HP:0000272	Malar flattening	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0000272	HP:0000272	Malar flattening	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0000272	HP:0000272	Malar flattening	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0000272	HP:0000272	Malar flattening	0	NSDHL CL E G H	50814	13398	ORPHA:251383	CK syndrome	HP:0040281 - Very frequent	34
HP:0000272	HP:0000272	Malar flattening	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.	34
HP:0000272	HP:0000272	Malar flattening	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0000272	HP:0000272	Malar flattening	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0000272	HP:0000272	Malar flattening	0	PAX3 CL E G H	5077	8617	OMIM:122880	Craniofacial-Deafness-Hand syndrome	.	59
HP:0000272	HP:0000272	Malar flattening	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0000272	HP:0000272	Malar flattening	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000272	HP:0000272	Malar flattening	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0000272	HP:0000272	Malar flattening	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040281 - Very frequent	113
HP:0000272	HP:0000272	Malar flattening	0	PDZD8 CL E G H	118987	26974	OMIM:620021
HP:0000272	HP:0000272	Malar flattening	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000272	HP:0000272	Malar flattening	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.	65
HP:0000272	HP:0000272	Malar flattening	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.	72
HP:0000272	HP:0000272	Malar flattening	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0000272	HP:0000272	Malar flattening	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0000272	HP:0000272	Malar flattening	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000272	HP:0000272	Malar flattening	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.	57
HP:0000272	HP:0000272	Malar flattening	0	PIK3R1 CL E G H	5295	8979	ORPHA:3163	SHORT syndrome	HP:0040283 - Occasional	43
HP:0000272	HP:0000272	Malar flattening	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0000272	HP:0000272	Malar flattening	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000272	HP:0000272	Malar flattening	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0000272	HP:0000272	Malar flattening	0	POLE CL E G H	5426	9177	OMIM:615139	Facial dysmorphism, immunodeficiency, livedo, and short stature	.	1129
HP:0000272	HP:0000272	Malar flattening	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000272	HP:0000272	Malar flattening	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0000272	HP:0000272	Malar flattening	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000272	HP:0000272	Malar flattening	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	38
HP:0000272	HP:0000272	Malar flattening	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000272	HP:0000272	Malar flattening	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	31
HP:0000272	HP:0000272	Malar flattening	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0000272	HP:0000272	Malar flattening	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040281 - Very frequent	138
HP:0000272	HP:0000272	Malar flattening	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0000272	HP:0000272	Malar flattening	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0000272	HP:0000272	Malar flattening	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.	76
HP:0000272	HP:0000272	Malar flattening	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.	36
HP:0000272	HP:0000272	Malar flattening	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent	28
HP:0000272	HP:0000272	Malar flattening	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome		28
HP:0000272	HP:0000272	Malar flattening	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0000272	HP:0000272	Malar flattening	0	PRMT7 CL E G H	54496	25557	OMIM:617157	Short stature, brachydactyly, intellectual developmental disability, and seizures	.	6
HP:0000272	HP:0000272	Malar flattening	0	PSMC3 CL E G H	5702	9549	OMIM:619354	DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY; DCIDP
HP:0000272	HP:0000272	Malar flattening	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent	58
HP:0000272	HP:0000272	Malar flattening	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	58
HP:0000272	HP:0000272	Malar flattening	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.	53
HP:0000272	HP:0000272	Malar flattening	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040283 - Occasional	53
HP:0000272	HP:0000272	Malar flattening	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0000272	HP:0000272	Malar flattening	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1	.	31
HP:0000272	HP:0000272	Malar flattening	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	90
HP:0000272	HP:0000272	Malar flattening	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:1387	Cataract-intellectual disability-hypogonadism syndrome	HP:0040281 - Very frequent	135
HP:0000272	HP:0000272	Malar flattening	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0000272	HP:0000272	Malar flattening	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0000272	HP:0000272	Malar flattening	0	RDH11 CL E G H	51109	17964	OMIM:616108	Retinal dystrophy, juvenile cataracts, and short stature syndrome	.	2
HP:0000272	HP:0000272	Malar flattening	0	RDH11 CL E G H	51109	17964	ORPHA:436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0000272	HP:0000272	Malar flattening	0	RHOA CL E G H	387	667	OMIM:618727	ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES; EDFAOB		8
HP:0000272	HP:0000272	Malar flattening	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000272	HP:0000272	Malar flattening	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent	15
HP:0000272	HP:0000272	Malar flattening	0	ROR2 CL E G H	4920	10257	OMIM:268310	Robinow syndrome, autosomal recessive	.	120
HP:0000272	HP:0000272	Malar flattening	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0000272	HP:0000272	Malar flattening	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000272	HP:0000272	Malar flattening	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent	2
HP:0000272	HP:0000272	Malar flattening	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.	2
HP:0000272	HP:0000272	Malar flattening	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0000272	HP:0000272	Malar flattening	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0000272	HP:0000272	Malar flattening	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0000272	HP:0000272	Malar flattening	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2
HP:0000272	HP:0000272	Malar flattening	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000272	HP:0000272	Malar flattening	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:0000272	HP:0000272	Malar flattening	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0000272	HP:0000272	Malar flattening	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0000272	HP:0000272	Malar flattening	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000272	HP:0000272	Malar flattening	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000272	HP:0000272	Malar flattening	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040281 - Very frequent	49
HP:0000272	HP:0000272	Malar flattening	0	SHANK3 CL E G H	85358	14294	ORPHA:48652	Monosomy 22q13.3	HP:0040282 - Frequent	53
HP:0000272	HP:0000272	Malar flattening	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0000272	HP:0000272	Malar flattening	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0000272	HP:0000272	Malar flattening	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.	32
HP:0000272	HP:0000272	Malar flattening	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.	166
HP:0000272	HP:0000272	Malar flattening	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II	.	166
HP:0000272	HP:0000272	Malar flattening	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional	178
HP:0000272	HP:0000272	Malar flattening	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0000272	HP:0000272	Malar flattening	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.	9
HP:0000272	HP:0000272	Malar flattening	0	SLC6A8 CL E G H	6535	11055	OMIM:300352	Creatine deficiency syndrome, X-linked	.	122
HP:0000272	HP:0000272	Malar flattening	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040282 - Frequent	122
HP:0000272	HP:0000272	Malar flattening	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0000272	HP:0000272	Malar flattening	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0000272	HP:0000272	Malar flattening	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0000272	HP:0000272	Malar flattening	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0000272	HP:0000272	Malar flattening	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0000272	HP:0000272	Malar flattening	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0000272	HP:0000272	Malar flattening	0	STAG2 CL E G H	10735	11355	ORPHA:521258	Xq25 microduplication syndrome	HP:0040282 - Frequent	1
HP:0000272	HP:0000272	Malar flattening	0	TAT CL E G H	6898	11573	ORPHA:28378	Tyrosinemia type 2	HP:0040283 - Occasional	43
HP:0000272	HP:0000272	Malar flattening	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0000272	HP:0000272	Malar flattening	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0000272	HP:0000272	Malar flattening	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent	32
HP:0000272	HP:0000272	Malar flattening	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040281 - Very frequent	28
HP:0000272	HP:0000272	Malar flattening	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional	55
HP:0000272	HP:0000272	Malar flattening	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000272	HP:0000272	Malar flattening	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent	140
HP:0000272	HP:0000272	Malar flattening	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0000272	HP:0000272	Malar flattening	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0000272	HP:0000272	Malar flattening	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000272	HP:0000272	Malar flattening	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040281 - Very frequent	6
HP:0000272	HP:0000272	Malar flattening	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	239
HP:0000272	HP:0000272	Malar flattening	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0000272	HP:0000272	Malar flattening	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040282 - Frequent	253
HP:0000272	HP:0000272	Malar flattening	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0000272	HP:0000272	Malar flattening	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	HP:0040283 - Occasional	24
HP:0000272	HP:0000272	Malar flattening	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0000272	HP:0000272	Malar flattening	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0000272	HP:0000272	Malar flattening	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000272	HP:0000272	Malar flattening	0	TP63 CL E G H	8626	15979	ORPHA:69085	Limb-mammary syndrome	HP:0040284 - Very rare	140
HP:0000272	HP:0000272	Malar flattening	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0000272	HP:0000272	Malar flattening	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0000272	HP:0000272	Malar flattening	0	UBE2A CL E G H	7319	12472	OMIM:300860	MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE; MRXSN		7
HP:0000272	HP:0000272	Malar flattening	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040282 - Frequent
HP:0000272	HP:0000272	Malar flattening	0	WNT5A CL E G H	7474	12784	OMIM:180700	Robinow syndrome, autosomal dominant 1	.	98
HP:0000272	HP:0000272	Malar flattening	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040281 - Very frequent	7
HP:0000272	HP:0000272	Malar flattening	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0000272	HP:0000272	Malar flattening	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0000272	HP:0000272	Malar flattening	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040281 - Very frequent	1

Genes (204) :ACAN ACSL4 ADAMTSL4 AGL AIFM1 AMMECR1 APC ARID1B ARVCF ASPH ASXL3 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALT6 BBS7 BCR BGN BLM BMP2 BUB1B CANT1 CCBE1 CDH11 CHD7 CNOT3 COG4 COL11A1 COL11A2 COL1A1 COL2A1 COL5A1 COL9A1 COL9A2 COL9A3 COMT CRKL CUL7 DCHS1 DDR2 DHODH DLG3 DNMT3B DVL1 EBP EFTUD2 EHMT1 ELN ERF ESCO2 FAM20C FAM50A FAT4 FBN1 FGFR1 FGFR2 FGFR3 FLNA FLNB FOXC1 FOXP1 FZD2 GATA1 GJA5 GJA8 GLI2 GORAB GP1BB GPC6 GRIA3 GSC HBA1 HBA2 HDAC4 HERC1 HIRA HNRNPH1 HSPG2 INPPL1 IPO8 JMJD1C KCNE5 KCNH1 KCNJ2 KIF1A KIF22 KIF7 LARP7 LIFR LMNA LOXL3 LRP2 LRP4 LRPPRC LTBP4 MAF MAN1B1 MAN2B1 MAPK1 MBD5 MECP2 MED12 MGP MLXIPL MYH3 NDP NECTIN1 NF1 NGF NONO NOTCH3 NPR3 NSDHL NTRK1 OBSL1 PAX3 PCGF2 PDE4D PDZD8 PEX1 PEX12 PEX7 PIGA PIGT PIGU PIGV PIK3R1 PLOD3 POGZ POLE POLR1B POLR1C POLR1D POLR3A POMGNT1 POR POU1F1 PQBP1 PRKAR1A PRMT7 PSMC3 PTH1R PYCR1 PYCR2 RAB23 RAB3GAP1 RAB3GAP2 RAI1 RBM8A RDH11 RHOA RLIM RNU4ATAC ROR2 RPS26 RREB1 RSPRY1 RUNX2 SATB2 SCARF2 SEC23A SEC24C SERPINH1 SETBP1 SETD2 SF3B2 SF3B4 SHANK3 SHH SIX3 SLC26A2 SLC2A10 SLC35D1 SLC6A8 SMAD3 SMAD4 SNRPB SOST SP7 STAG2 TAT TBL1XR1 TBX1 TBX22 TBX4 TCOF1 TFAP2A TFAP2B TFE3 TGDS TGFBR1 TGFBR2 TMEM165 TMEM237 TONSL TP63 TWIST1 UBE2A UFD1 WNT5A YY1 ZBTB20 ZNHIT3

Diseases (238) :OMIM:612813 ORPHA:86818 ORPHA:1885 OMIM:232400 OMIM:300232 ORPHA:3258 ORPHA:251056 ORPHA:567 OMIM:601552 OMIM:615485 ORPHA:357074 OMIM:219200 OMIM:301040 OMIM:309580 OMIM:271640 OMIM:615984 ORPHA:261330 OMIM:300989 ORPHA:125 OMIM:210900 ORPHA:261295 OMIM:257300 OMIM:251450 OMIM:235510 OMIM:211380 OMIM:214800 OMIM:618672 ORPHA:85172 ORPHA:250984 OMIM:228520 OMIM:154780 ORPHA:560 OMIM:604841 ORPHA:166100 OMIM:614524 OMIM:215150 OMIM:184840 OMIM:130060 OMIM:156550 ORPHA:85166 OMIM:183900 OMIM:271700 OMIM:108300 OMIM:619329 OMIM:273750 OMIM:601390 OMIM:271665 OMIM:263750 ORPHA:246 OMIM:300850 OMIM:242860 OMIM:180700 OMIM:302960 OMIM:610536 ORPHA:79113 OMIM:610253 OMIM:194050 OMIM:600775 ORPHA:3103 OMIM:268300 OMIM:259775 OMIM:300261 OMIM:615546 OMIM:154700 OMIM:123150 OMIM:166250 OMIM:207410 OMIM:101200 OMIM:123790 OMIM:614592 ORPHA:1555 ORPHA:93259 OMIM:101400 OMIM:100800 ORPHA:93262 OMIM:146000 ORPHA:53271 OMIM:602849 ORPHA:90652 OMIM:311300 OMIM:304120 OMIM:300244 OMIM:108720 OMIM:108721 ORPHA:503 OMIM:150250 OMIM:602482 OMIM:613670 ORPHA:93328 OMIM:190685 OMIM:612474 OMIM:610829 ORPHA:2078 OMIM:231070 OMIM:258315 ORPHA:364028 OMIM:602471 ORPHA:98791 OMIM:600430 OMIM:617011 ORPHA:457359 OMIM:620083 OMIM:224410 OMIM:255800 ORPHA:3144 ORPHA:60030 ORPHA:420561 OMIM:170390 ORPHA:2836 OMIM:603546 OMIM:607131 ORPHA:319671 OMIM:615071 OMIM:601559 OMIM:176670 OMIM:222448 OMIM:212780 OMIM:220111 OMIM:613177 OMIM:601088 ORPHA:397941 OMIM:614202 OMIM:248500 ORPHA:228402 OMIM:300260 ORPHA:93932 OMIM:245150 OMIM:193700 ORPHA:649 OMIM:225060 ORPHA:139474 OMIM:601321 ORPHA:64752 ORPHA:466791 OMIM:300967 ORPHA:2789 OMIM:130720 OMIM:619543 ORPHA:251383 OMIM:300831 OMIM:612921 OMIM:122880 OMIM:618371 OMIM:614613 ORPHA:280651 ORPHA:439822 OMIM:620021 OMIM:214100 OMIM:266510 OMIM:215100 OMIM:300868 ORPHA:369837 OMIM:618590 OMIM:239300 ORPHA:3163 OMIM:612394 ORPHA:468678 OMIM:616364 OMIM:615139 OMIM:618939 ORPHA:861 OMIM:248390 OMIM:613717 OMIM:264090 ORPHA:3455 OMIM:253280 OMIM:201750 OMIM:613038 ORPHA:93946 OMIM:309500 OMIM:617157 OMIM:619354 ORPHA:50945 OMIM:215045 OMIM:612940 OMIM:616420 OMIM:201000 ORPHA:1387 OMIM:182290 OMIM:274000 OMIM:616108 ORPHA:436245 OMIM:618727 OMIM:300978 ORPHA:2636 OMIM:268310 OMIM:613309 ORPHA:457395 OMIM:616723 OMIM:119600 OMIM:612313 OMIM:600920 OMIM:607812 OMIM:613848 OMIM:269150 OMIM:616831 OMIM:164210 OMIM:154400 ORPHA:1788 ORPHA:48652 OMIM:606232 OMIM:142945 OMIM:157170 OMIM:600972 OMIM:256050 ORPHA:3342 OMIM:269250 OMIM:300352 ORPHA:52503 ORPHA:284984 OMIM:613795 OMIM:139210 OMIM:117650 OMIM:269500 OMIM:613849 ORPHA:521258 ORPHA:28378 ORPHA:487825 OMIM:602342 ORPHA:921 ORPHA:261279 OMIM:154500 OMIM:113620 ORPHA:46627 OMIM:301066 ORPHA:1388 OMIM:609192 OMIM:610168 OMIM:614727 OMIM:614424 OMIM:271510 OMIM:604292 ORPHA:69085 OMIM:180750 OMIM:300860 ORPHA:506358 OMIM:617557 OMIM:259050

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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