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 palate morphology (HP:0000174)

Parent Node:
High palate (HP:0000218)

Parent Node:
Narrow palate (HP:0000189)

..Starting node
..High, narrow palate (HP:0002705)

Term ID:

2705

Name:

High, narrow palate

Synonym:

Gothic palate; High narrow palate; High vaulted palate; High, narrow palate; Narrow and high arched palate; Narrow, high-arched palate; Narrow, high-arched roof of mouth; Narrow, highly arched palate; Narrow, highly arched roof of mouth

Definition:

The presence of a high and narrow palate.

Comments:

Reference:

HP:0002705

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002705	HP:0002705	High, narrow palate	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.	415
HP:0002705	HP:0002705	High, narrow palate	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	96
HP:0002705	HP:0002705	High, narrow palate	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002705	HP:0002705	High, narrow palate	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0002705	HP:0002705	High, narrow palate	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040282 - Frequent	34
HP:0002705	HP:0002705	High, narrow palate	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.	8
HP:0002705	HP:0002705	High, narrow palate	0	APC CL E G H	324	583	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	3179
HP:0002705	HP:0002705	High, narrow palate	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6		25
HP:0002705	HP:0002705	High, narrow palate	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.	29
HP:0002705	HP:0002705	High, narrow palate	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040282 - Frequent	49
HP:0002705	HP:0002705	High, narrow palate	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0002705	HP:0002705	High, narrow palate	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent	192
HP:0002705	HP:0002705	High, narrow palate	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.	114
HP:0002705	HP:0002705	High, narrow palate	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0002705	HP:0002705	High, narrow palate	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	5
HP:0002705	HP:0002705	High, narrow palate	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0002705	HP:0002705	High, narrow palate	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0002705	HP:0002705	High, narrow palate	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002705	HP:0002705	High, narrow palate	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0002705	HP:0002705	High, narrow palate	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.	4
HP:0002705	HP:0002705	High, narrow palate	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	9
HP:0002705	HP:0002705	High, narrow palate	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	31
HP:0002705	HP:0002705	High, narrow palate	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome		2
HP:0002705	HP:0002705	High, narrow palate	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	50
HP:0002705	HP:0002705	High, narrow palate	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0002705	HP:0002705	High, narrow palate	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.	40
HP:0002705	HP:0002705	High, narrow palate	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II		215
HP:0002705	HP:0002705	High, narrow palate	0	COL12A1 CL E G H	1303	2188	ORPHA:536516	Myopathic Ehlers-Danlos syndrome	HP:0040283 - Occasional	65
HP:0002705	HP:0002705	High, narrow palate	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0002705	HP:0002705	High, narrow palate	0	COPB1 CL E G H	1315	2231	OMIM:619255	BARALLE-MACKEN SYNDROME; BARMACS
HP:0002705	HP:0002705	High, narrow palate	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0002705	HP:0002705	High, narrow palate	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002705	HP:0002705	High, narrow palate	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002705	HP:0002705	High, narrow palate	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional	2
HP:0002705	HP:0002705	High, narrow palate	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent	164
HP:0002705	HP:0002705	High, narrow palate	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0002705	HP:0002705	High, narrow palate	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040282 - Frequent	27
HP:0002705	HP:0002705	High, narrow palate	0	DVL1 CL E G H	1855	3084	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	14
HP:0002705	HP:0002705	High, narrow palate	0	DVL3 CL E G H	1857	3087	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	5
HP:0002705	HP:0002705	High, narrow palate	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002705	HP:0002705	High, narrow palate	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002705	HP:0002705	High, narrow palate	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002705	HP:0002705	High, narrow palate	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002705	HP:0002705	High, narrow palate	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0002705	HP:0002705	High, narrow palate	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002705	HP:0002705	High, narrow palate	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0002705	HP:0002705	High, narrow palate	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040282 - Frequent	1361
HP:0002705	HP:0002705	High, narrow palate	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	1361
HP:0002705	HP:0002705	High, narrow palate	0	FGFR1 CL E G H	2260	3688	OMIM:190440	Trigonocephaly 1		172
HP:0002705	HP:0002705	High, narrow palate	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040282 - Frequent	145
HP:0002705	HP:0002705	High, narrow palate	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0002705	HP:0002705	High, narrow palate	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002705	HP:0002705	High, narrow palate	0	FOXP2 CL E G H	93986	13875	ORPHA:209908	Childhood apraxia of speech	HP:0040284 - Very rare	143
HP:0002705	HP:0002705	High, narrow palate	0	FZD2 CL E G H	2535	4040	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent
HP:0002705	HP:0002705	High, narrow palate	0	GIPC1 CL E G H	10755	1226	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002705	HP:0002705	High, narrow palate	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	3
HP:0002705	HP:0002705	High, narrow palate	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0002705	HP:0002705	High, narrow palate	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent	73
HP:0002705	HP:0002705	High, narrow palate	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0002705	HP:0002705	High, narrow palate	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0002705	HP:0002705	High, narrow palate	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002705	HP:0002705	High, narrow palate	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002705	HP:0002705	High, narrow palate	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002705	HP:0002705	High, narrow palate	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0002705	HP:0002705	High, narrow palate	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002705	HP:0002705	High, narrow palate	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:0002705	HP:0002705	High, narrow palate	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:0002705	HP:0002705	High, narrow palate	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0002705	HP:0002705	High, narrow palate	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0002705	HP:0002705	High, narrow palate	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002705	HP:0002705	High, narrow palate	0	KCNJ6 CL E G H	3763	6267	OMIM:614098	Keppen-Lubinsky syndrome	.	3
HP:0002705	HP:0002705	High, narrow palate	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0002705	HP:0002705	High, narrow palate	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	13
HP:0002705	HP:0002705	High, narrow palate	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002705	HP:0002705	High, narrow palate	0	LRP4 CL E G H	4038	6696	ORPHA:3258	Cenani-Lenz syndrome	HP:0040283 - Occasional	124
HP:0002705	HP:0002705	High, narrow palate	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0002705	HP:0002705	High, narrow palate	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent	11
HP:0002705	HP:0002705	High, narrow palate	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002705	HP:0002705	High, narrow palate	0	MARS1 CL E G H	4141	6898	OMIM:619692	TRICHOTHIODYSTROPHY 9, NONPHOTOSENSITIVE; TTD9
HP:0002705	HP:0002705	High, narrow palate	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002705	HP:0002705	High, narrow palate	0	MCM3AP CL E G H	8888	6946	OMIM:618124	Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development	.	3
HP:0002705	HP:0002705	High, narrow palate	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0002705	HP:0002705	High, narrow palate	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0002705	HP:0002705	High, narrow palate	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2		13
HP:0002705	HP:0002705	High, narrow palate	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002705	HP:0002705	High, narrow palate	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002705	HP:0002705	High, narrow palate	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0002705	HP:0002705	High, narrow palate	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002705	HP:0002705	High, narrow palate	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002705	HP:0002705	High, narrow palate	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0002705	HP:0002705	High, narrow palate	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0002705	HP:0002705	High, narrow palate	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0002705	HP:0002705	High, narrow palate	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0002705	HP:0002705	High, narrow palate	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	745
HP:0002705	HP:0002705	High, narrow palate	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494
HP:0002705	HP:0002705	High, narrow palate	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0002705	HP:0002705	High, narrow palate	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0002705	HP:0002705	High, narrow palate	0	NOTCH2NLC CL E G H	100996717	53924	ORPHA:98897	Oculopharyngodistal myopathy	HP:0040282 - Frequent
HP:0002705	HP:0002705	High, narrow palate	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040281 - Very frequent	144
HP:0002705	HP:0002705	High, narrow palate	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1	.	544
HP:0002705	HP:0002705	High, narrow palate	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	53
HP:0002705	HP:0002705	High, narrow palate	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	21
HP:0002705	HP:0002705	High, narrow palate	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040282 - Frequent	39
HP:0002705	HP:0002705	High, narrow palate	0	PCDHGC4 CL E G H	56098	8717	OMIM:619880
HP:0002705	HP:0002705	High, narrow palate	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0002705	HP:0002705	High, narrow palate	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0002705	HP:0002705	High, narrow palate	0	PEX5 CL E G H	5830	9719	OMIM:202370	Peroxisome biogenesis disorder 2B	.	99
HP:0002705	HP:0002705	High, narrow palate	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0002705	HP:0002705	High, narrow palate	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent	12
HP:0002705	HP:0002705	High, narrow palate	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040284 - Very rare	105
HP:0002705	HP:0002705	High, narrow palate	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional	76
HP:0002705	HP:0002705	High, narrow palate	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002705	HP:0002705	High, narrow palate	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional	6
HP:0002705	HP:0002705	High, narrow palate	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0002705	HP:0002705	High, narrow palate	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0002705	HP:0002705	High, narrow palate	0	RECQL4 CL E G H	9401	9949	OMIM:266280	Rapadilino syndrome	.	445
HP:0002705	HP:0002705	High, narrow palate	0	RET CL E G H	5979	9967	OMIM:162300	Multiple endocrine neoplasia, type IIB	.	572
HP:0002705	HP:0002705	High, narrow palate	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002705	HP:0002705	High, narrow palate	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040281 - Very frequent	90
HP:0002705	HP:0002705	High, narrow palate	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002705	HP:0002705	High, narrow palate	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0002705	HP:0002705	High, narrow palate	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0002705	HP:0002705	High, narrow palate	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040281 - Very frequent	150
HP:0002705	HP:0002705	High, narrow palate	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0002705	HP:0002705	High, narrow palate	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002705	HP:0002705	High, narrow palate	0	SLC6A17 CL E G H	388662	31399	ORPHA:457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	HP:0040282 - Frequent	12
HP:0002705	HP:0002705	High, narrow palate	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002705	HP:0002705	High, narrow palate	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002705	HP:0002705	High, narrow palate	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002705	HP:0002705	High, narrow palate	0	SMARCA2 CL E G H	6595	11098	OMIM:601358	Nicolaides-Baraitser syndrome		146
HP:0002705	HP:0002705	High, narrow palate	0	SMARCA2 CL E G H	6595	11098	ORPHA:3051	Nicolaides-Baraitser syndrome	HP:0040281 - Very frequent	146
HP:0002705	HP:0002705	High, narrow palate	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002705	HP:0002705	High, narrow palate	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0002705	HP:0002705	High, narrow palate	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS		4
HP:0002705	HP:0002705	High, narrow palate	0	SPRED1 CL E G H	161742	20249	OMIM:611431	Legius syndrome	.	136
HP:0002705	HP:0002705	High, narrow palate	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002705	HP:0002705	High, narrow palate	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002705	HP:0002705	High, narrow palate	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0002705	HP:0002705	High, narrow palate	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002705	HP:0002705	High, narrow palate	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002705	HP:0002705	High, narrow palate	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional	13
HP:0002705	HP:0002705	High, narrow palate	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0002705	HP:0002705	High, narrow palate	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040282 - Frequent	31
HP:0002705	HP:0002705	High, narrow palate	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002705	HP:0002705	High, narrow palate	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0002705	HP:0002705	High, narrow palate	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002705	HP:0002705	High, narrow palate	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002705	HP:0002705	High, narrow palate	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002705	HP:0002705	High, narrow palate	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional	108
HP:0002705	HP:0002705	High, narrow palate	0	UBE3B CL E G H	89910	13478	ORPHA:2707	Oculocerebrofacial syndrome, Kaufman type	HP:0040282 - Frequent	13
HP:0002705	HP:0002705	High, narrow palate	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6
HP:0002705	HP:0002705	High, narrow palate	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040281 - Very frequent	546
HP:0002705	HP:0002705	High, narrow palate	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.	546
HP:0002705	HP:0002705	High, narrow palate	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0002705	HP:0002705	High, narrow palate	0	WNT5A CL E G H	7474	12784	ORPHA:3107	Autosomal dominant Robinow syndrome	HP:0040282 - Frequent	98
HP:0002705	HP:0002705	High, narrow palate	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional	13

Genes (145) :ABCC6 ACTA1 ACTA2 AFF4 AMER1 ANTXR1 APC ARID2 ARL6 ASXL3 ATN1 ATP7A BBS1 BCOR BCR BMPR1A BRAF CARS1 CCDC22 CCDC28B CDC45 CDC6 CDK10 CDT1 CHD3 CNTN1 COL11A1 COL12A1 COL3A1 COPB1 CPT2 CREBBP CRKL DDX59 DIS3L2 DPM1 DVL1 DVL3 ELN EP300 ERCC2 ERCC3 ERMARD FBN1 FGFR1 FGFR3 FIG4 FOXE3 FOXP2 FZD2 GIPC1 GMNN GNE GPC3 GPC4 GRB10 GTF2E2 GTF2H5 H4C5 HECW2 HEY2 HNRNPK IFT122 INTU IPO8 KCNJ6 KCNK9 KLHL41 LOX LRP4 MAP2K1 MAP3K7 MAPK1 MARS1 MAT2A MCM3AP MED12L MED25 MEGF8 MFAP5 MPLKIP MUSK MYH11 MYLK MYMX NAA10 NDUFAF6 NEB NIPBL NONO NOTCH2NLC NOTCH3 NSD1 ORC1 ORC4 ORC6 PCDHGC4 PCLO PEX1 PEX5 PIEZO2 PIGT PLOD1 POR PRKG1 PTDSS1 PTEN PTPN11 RECQL4 RET RNF113A RUNX2 SCARF2 SIN3A SKI SLC25A12 SLC25A24 SLC6A17 SMAD2 SMAD3 SMAD4 SMARCA2 SMG9 SMS SPEN SPRED1 SPRED2 SPTBN1 TAF1 TAOK1 TARS1 TBCK TBX1 TCTN3 TGFB2 TGFB3 TGFBR1 TGFBR2 TPM3 UBE3B VAC14 VPS13B WASHC5 WNT5A WNT7A

Diseases (105) :OMIM:177850 ORPHA:171433 ORPHA:91387 OMIM:616368 ORPHA:2780 OMIM:230740 ORPHA:3258 OMIM:617808 OMIM:209900 ORPHA:352577 OMIM:618494 ORPHA:198 OMIM:309800 ORPHA:261330 ORPHA:79076 OMIM:163950 ORPHA:33364 ORPHA:7 ORPHA:2554 OMIM:617694 OMIM:618205 OMIM:612540 OMIM:604841 ORPHA:536516 ORPHA:286 OMIM:619255 ORPHA:228308 OMIM:180849 ORPHA:2919 ORPHA:2849 OMIM:608799 ORPHA:79322 ORPHA:3107 ORPHA:75857 OMIM:616914 ORPHA:284979 ORPHA:2462 OMIM:190440 ORPHA:53271 ORPHA:3472 ORPHA:209908 ORPHA:98897 ORPHA:3166 ORPHA:373 ORPHA:96182 OMIM:619950 OMIM:617268 ORPHA:352665 ORPHA:453504 OMIM:218330 OMIM:617926 OMIM:619472 OMIM:614098 ORPHA:166108 ORPHA:3238 OMIM:619692 OMIM:618124 OMIM:618872 ORPHA:464738 OMIM:614976 OMIM:208150 OMIM:619941 ORPHA:276432 OMIM:618239 OMIM:122470 ORPHA:466791 OMIM:300967 ORPHA:2789 OMIM:117550 OMIM:619880 OMIM:608027 OMIM:214100 OMIM:202370 OMIM:248700 ORPHA:369837 ORPHA:1900 ORPHA:95699 ORPHA:2658 OMIM:266280 OMIM:162300 ORPHA:1452 OMIM:119600 OMIM:600920 OMIM:613406 OMIM:612949 OMIM:612289 ORPHA:457212 OMIM:601358 ORPHA:3051 OMIM:616920 OMIM:309583 OMIM:619312 OMIM:611431 OMIM:619745 OMIM:619475 OMIM:300966 OMIM:619575 ORPHA:488632 OMIM:188400 ORPHA:2753 OMIM:614816 ORPHA:2707 ORPHA:193 OMIM:216550 ORPHA:2879

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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