Human Phenotype Ontology

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:0000311	HP:0000311	Round face	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional	23
HP:0000311	HP:0000311	Round face	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.	72
HP:0000311	HP:0000311	Round face	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS		1
HP:0000311	HP:0000311	Round face	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0000311	HP:0000311	Round face	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:0040282 - Frequent	6
HP:0000311	HP:0000311	Round face	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	54
HP:0000311	HP:0000311	Round face	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0000311	HP:0000311	Round face	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040283 - Occasional	102
HP:0000311	HP:0000311	Round face	0	ANKRD11 CL E G H	29123	21316	OMIM:148050	Kbg syndrome	.	102
HP:0000311	HP:0000311	Round face	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.	7
HP:0000311	HP:0000311	Round face	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040281 - Very frequent	36
HP:0000311	HP:0000311	Round face	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000311	HP:0000311	Round face	0	BRPF1 CL E G H	7862	14255	OMIM:617333	Intellectual developmental disorder with dysmorphic facies and ptosis	.	10
HP:0000311	HP:0000311	Round face	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:0000311	HP:0000311	Round face	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	.	572
HP:0000311	HP:0000311	Round face	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0000311	HP:0000311	Round face	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0000311	HP:0000311	Round face	0	CHSY1 CL E G H	22856	17198	ORPHA:363417	Temtamy preaxial brachydactyly syndrome	HP:0040283 - Occasional	16
HP:0000311	HP:0000311	Round face	0	COL11A1 CL E G H	1301	2186	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	215
HP:0000311	HP:0000311	Round face	0	COL11A2 CL E G H	1302	2187	ORPHA:2021	Fibrochondrogenesis	HP:0040281 - Very frequent	222
HP:0000311	HP:0000311	Round face	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0000311	HP:0000311	Round face	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284
HP:0000311	HP:0000311	Round face	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0000311	HP:0000311	Round face	0	COL6A1 CL E G H	1291	2211	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	442
HP:0000311	HP:0000311	Round face	0	COL6A2 CL E G H	1292	2212	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	478
HP:0000311	HP:0000311	Round face	0	COL6A3 CL E G H	1293	2213	OMIM:254090	Ullrich congenital muscular dystrophy 1	.	702
HP:0000311	HP:0000311	Round face	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0000311	HP:0000311	Round face	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0000311	HP:0000311	Round face	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000311	HP:0000311	Round face	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	15
HP:0000311	HP:0000311	Round face	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent	164
HP:0000311	HP:0000311	Round face	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0000311	HP:0000311	Round face	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0000311	HP:0000311	Round face	0	ECEL1 CL E G H	9427	3147	OMIM:615065	Arthrogryposis, distal, type 5D	.	37
HP:0000311	HP:0000311	Round face	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.	4
HP:0000311	HP:0000311	Round face	0	EED CL E G H	8726	3188	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	4
HP:0000311	HP:0000311	Round face	0	EIF2S3 CL E G H	1968	3267	ORPHA:85282	MEHMO syndrome	HP:0040281 - Very frequent	8
HP:0000311	HP:0000311	Round face	0	EXOC8 CL E G H	149371	24659	OMIM:619076	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB		1
HP:0000311	HP:0000311	Round face	0	EZH2 CL E G H	2146	3527	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	81
HP:0000311	HP:0000311	Round face	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0000311	HP:0000311	Round face	0	FBN1 CL E G H	2200	3603	OMIM:102370	Acromicric dysplasia	.	1361
HP:0000311	HP:0000311	Round face	0	FBN1 CL E G H	2200	3603	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	1361
HP:0000311	HP:0000311	Round face	0	FBXO31 CL E G H	79791	16510	OMIM:615979	Mental retardation, autosomal recessive 45		8
HP:0000311	HP:0000311	Round face	0	FGD1 CL E G H	2245	3663	ORPHA:915	Aarskog-Scott syndrome	HP:0040283 - Occasional	62
HP:0000311	HP:0000311	Round face	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome		62
HP:0000311	HP:0000311	Round face	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0000311	HP:0000311	Round face	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.	2
HP:0000311	HP:0000311	Round face	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000311	HP:0000311	Round face	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000311	HP:0000311	Round face	0	GNAI3 CL E G H	2773	4387	OMIM:602483	Auriculocondylar syndrome 1	.	2
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.	101
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040281 - Very frequent	101
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	101
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent	101
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.	101
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.	101
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent	101
HP:0000311	HP:0000311	Round face	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.	101
HP:0000311	HP:0000311	Round face	0	HDAC4 CL E G H	9759	14063	ORPHA:1001	2q37 microdeletion syndrome	HP:0040281 - Very frequent	33
HP:0000311	HP:0000311	Round face	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	.	33
HP:0000311	HP:0000311	Round face	0	HOXD13 CL E G H	3239	5136	OMIM:113300	Brachydactyly, type E	.	25
HP:0000311	HP:0000311	Round face	0	HRAS CL E G H	3265	5173	OMIM:137550	Melanocytic nevus syndrome, congenital	.	113
HP:0000311	HP:0000311	Round face	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0000311	HP:0000311	Round face	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	.
HP:0000311	HP:0000311	Round face	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0000311	HP:0000311	Round face	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB		1
HP:0000311	HP:0000311	Round face	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0000311	HP:0000311	Round face	0	KDM6B CL E G H	23135	29012	OMIM:618505	Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	.	9
HP:0000311	HP:0000311	Round face	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0000311	HP:0000311	Round face	0	KMT2A CL E G H	4297	7132	ORPHA:319182	Wiedemann-Steiner syndrome	HP:0040282 - Frequent	91
HP:0000311	HP:0000311	Round face	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent	645
HP:0000311	HP:0000311	Round face	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent	645
HP:0000311	HP:0000311	Round face	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.	645
HP:0000311	HP:0000311	Round face	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	165
HP:0000311	HP:0000311	Round face	0	LTBP3 CL E G H	4054	6716	ORPHA:969	Acromicric dysplasia	HP:0040281 - Very frequent	12
HP:0000311	HP:0000311	Round face	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.	12
HP:0000311	HP:0000311	Round face	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities	.
HP:0000311	HP:0000311	Round face	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0000311	HP:0000311	Round face	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects		74
HP:0000311	HP:0000311	Round face	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0000311	HP:0000311	Round face	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0000311	HP:0000311	Round face	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0000311	HP:0000311	Round face	0	NRAS CL E G H	4893	7989	OMIM:137550	Melanocytic nevus syndrome, congenital	.	102
HP:0000311	HP:0000311	Round face	0	NSD1 CL E G H	64324	14234	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	544
HP:0000311	HP:0000311	Round face	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0000311	HP:0000311	Round face	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.	1
HP:0000311	HP:0000311	Round face	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.	13
HP:0000311	HP:0000311	Round face	0	PDE4D CL E G H	5144	8783	OMIM:614613	Acrodysostosis 2 with or without hormone resistance	.	113
HP:0000311	HP:0000311	Round face	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0000311	HP:0000311	Round face	0	PEX1 CL E G H	5189	8850	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040282 - Frequent	169
HP:0000311	HP:0000311	Round face	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0000311	HP:0000311	Round face	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0000311	HP:0000311	Round face	0	PEX6 CL E G H	5190	8859	ORPHA:3220	Deafness-enamel hypoplasia-nail defects syndrome	HP:0040282 - Frequent	98
HP:0000311	HP:0000311	Round face	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0000311	HP:0000311	Round face	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	20
HP:0000311	HP:0000311	Round face	0	PHIP CL E G H	55023	15673	OMIM:617991	Developmental delay, intellectual disability, obesity, and dysmorphic features	.	11
HP:0000311	HP:0000311	Round face	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	36
HP:0000311	HP:0000311	Round face	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	84
HP:0000311	HP:0000311	Round face	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	57
HP:0000311	HP:0000311	Round face	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	6
HP:0000311	HP:0000311	Round face	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0000311	HP:0000311	Round face	0	PLCB4 CL E G H	5332	9059	OMIM:614669	Auriculocondylar syndrome 2	.	82
HP:0000311	HP:0000311	Round face	0	PPP1R15B CL E G H	84919	14951	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	2
HP:0000311	HP:0000311	Round face	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0000311	HP:0000311	Round face	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.	134
HP:0000311	HP:0000311	Round face	0	PRKAR1B CL E G H	5575	9390	OMIM:619680	MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS		2
HP:0000311	HP:0000311	Round face	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040282 - Frequent	948
HP:0000311	HP:0000311	Round face	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0000311	HP:0000311	Round face	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0000311	HP:0000311	Round face	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040281 - Very frequent	6
HP:0000311	HP:0000311	Round face	0	SEPTIN9 CL E G H	10801	7323	ORPHA:2901	Neuralgic amyotrophy	HP:0040283 - Occasional
HP:0000311	HP:0000311	Round face	0	SH3BP2 CL E G H	6452	10825	OMIM:118400	Cherubism		177
HP:0000311	HP:0000311	Round face	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0000311	HP:0000311	Round face	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:0000311	HP:0000311	Round face	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85		135
HP:0000311	HP:0000311	Round face	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040282 - Frequent	6
HP:0000311	HP:0000311	Round face	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040282 - Frequent	86
HP:0000311	HP:0000311	Round face	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040281 - Very frequent	237
HP:0000311	HP:0000311	Round face	0	SUZ12 CL E G H	23512	17101	OMIM:618786	IMAGAWA-MATSUMOTO SYNDROME; IMMAS		1
HP:0000311	HP:0000311	Round face	0	SUZ12 CL E G H	23512	17101	ORPHA:3447	Weaver syndrome	HP:0040282 - Frequent	1
HP:0000311	HP:0000311	Round face	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0000311	HP:0000311	Round face	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0000311	HP:0000311	Round face	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0000311	HP:0000311	Round face	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0000311	HP:0000311	Round face	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5		47
HP:0000311	HP:0000311	Round face	0	TRAPPC9 CL E G H	83696	30832	ORPHA:352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	HP:0040281 - Very frequent	158
HP:0000311	HP:0000311	Round face	0	TRMT10A CL E G H	93587	28403	ORPHA:391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	HP:0040283 - Occasional	7
HP:0000311	HP:0000311	Round face	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0000311	HP:0000311	Round face	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2		14
HP:0000311	HP:0000311	Round face	0	ZBTB18 CL E G H	10472	13030	ORPHA:36367	Distal monosomy 1q	HP:0040281 - Very frequent	16
HP:0000311	HP:0000311	Round face	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22	.	16
HP:0000311	HP:0000311	Round face	0	ZBTB24 CL E G H	9841	21143	OMIM:614069	Immunodeficiency-Centromeric instability-facial anomalies syndrome2	.	9