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:0000448	HP:0000448	Prominent nose	0	AARS1 CL E G H	16	20	OMIM:619691	TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000448	HP:0000448	Prominent nose	0	ACER3 CL E G H	55331	16066	OMIM:617762	Leukodystrophy, progressive, early childhood-onset	.
HP:0000448	HP:0000448	Prominent nose	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0000448	HP:0000448	Prominent nose	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0000448	HP:0000448	Prominent nose	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0000448	HP:0000448	Prominent nose	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	.	13
HP:0000448	HP:0000448	Prominent nose	0	AP4S1 CL E G H	11154	575	OMIM:614067	Spastic paraplegia 52, autosomal recessive	.	18
HP:0000448	HP:0000448	Prominent nose	0	APC2 CL E G H	10297	24036	OMIM:617169	Sotos syndrome 3	.	1
HP:0000448	HP:0000448	Prominent nose	0	ASPH CL E G H	444	757	OMIM:601552	Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs	.	4
HP:0000448	HP:0000448	Prominent nose	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0000448	HP:0000448	Prominent nose	0	BCL11B CL E G H	64919	13222	OMIM:618092	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES	.	3
HP:0000448	HP:0000448	Prominent nose	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome	.	314
HP:0000448	HP:0000448	Prominent nose	0	BPTF CL E G H	2186	3581	OMIM:617755	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES; NEDDFL		2
HP:0000448	HP:0000448	Prominent nose	0	CDK19 CL E G H	23097	19338	OMIM:618916	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 87; DEE87
HP:0000448	HP:0000448	Prominent nose	0	CDK5RAP2 CL E G H	55755	18672	OMIM:604804	Microcephaly 3, primary, autosomal recessive		181
HP:0000448	HP:0000448	Prominent nose	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.	20
HP:0000448	HP:0000448	Prominent nose	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0000448	HP:0000448	Prominent nose	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0000448	HP:0000448	Prominent nose	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0000448	HP:0000448	Prominent nose	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040282 - Frequent	79
HP:0000448	HP:0000448	Prominent nose	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000448	HP:0000448	Prominent nose	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0000448	HP:0000448	Prominent nose	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.	39
HP:0000448	HP:0000448	Prominent nose	0	CUL4B CL E G H	8450	2555	ORPHA:85293	X-linked intellectual disability, Cabezas type	HP:0040281 - Very frequent	38
HP:0000448	HP:0000448	Prominent nose	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040283 - Occasional	87
HP:0000448	HP:0000448	Prominent nose	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0000448	HP:0000448	Prominent nose	0	DYNC1I2 CL E G H	1781	2964	OMIM:618492	Neurodevelopmental disorder with microcephaly and structural brain anomalies	.	1
HP:0000448	HP:0000448	Prominent nose	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	.	4
HP:0000448	HP:0000448	Prominent nose	0	EMG1 CL E G H	10436	16912	OMIM:211180	Bowen-Conradi syndrome	.	2
HP:0000448	HP:0000448	Prominent nose	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040281 - Very frequent	2
HP:0000448	HP:0000448	Prominent nose	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000448	HP:0000448	Prominent nose	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	.	250
HP:0000448	HP:0000448	Prominent nose	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0000448	HP:0000448	Prominent nose	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0000448	HP:0000448	Prominent nose	0	EXOSC5 CL E G H	56915	24662	OMIM:619576	CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000448	HP:0000448	Prominent nose	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.	3
HP:0000448	HP:0000448	Prominent nose	0	FBXL3 CL E G H	26224	13599	OMIM:606220	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	.
HP:0000448	HP:0000448	Prominent nose	0	FGF3 CL E G H	2248	3681	ORPHA:90024	Deafness with labyrinthine aplasia, microtia, and microdontia	HP:0040283 - Occasional	18
HP:0000448	HP:0000448	Prominent nose	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0000448	HP:0000448	Prominent nose	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0000448	HP:0000448	Prominent nose	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0000448	HP:0000448	Prominent nose	0	GMPPA CL E G H	29926	22923	OMIM:615510	Alacrima, achalasia, and mental retardation syndrome		24
HP:0000448	HP:0000448	Prominent nose	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000448	HP:0000448	Prominent nose	0	GPC4 CL E G H	2239	4452	OMIM:301026	Keipert syndrome	.
HP:0000448	HP:0000448	Prominent nose	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0000448	HP:0000448	Prominent nose	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000448	HP:0000448	Prominent nose	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0000448	HP:0000448	Prominent nose	0	ITGA3 CL E G H	3675	6139	OMIM:614748	Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital	.	6
HP:0000448	HP:0000448	Prominent nose	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0000448	HP:0000448	Prominent nose	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040281 - Very frequent	141
HP:0000448	HP:0000448	Prominent nose	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0000448	HP:0000448	Prominent nose	0	LIG4 CL E G H	3981	6601	OMIM:606593	Lig4 syndrome	.	88
HP:0000448	HP:0000448	Prominent nose	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0000448	HP:0000448	Prominent nose	0	MAN1B1 CL E G H	11253	6823	ORPHA:397941	MAN1B1-CDG	HP:0040283 - Occasional	93
HP:0000448	HP:0000448	Prominent nose	0	MAN1B1 CL E G H	11253	6823	OMIM:614202	Rafiq syndrome		93
HP:0000448	HP:0000448	Prominent nose	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1	.	252
HP:0000448	HP:0000448	Prominent nose	0	MED12 CL E G H	9968	11957	ORPHA:293707	Blepharophimosis-intellectual disability syndrome, MKB type	HP:0040282 - Frequent	228
HP:0000448	HP:0000448	Prominent nose	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0000448	HP:0000448	Prominent nose	0	MED12 CL E G H	9968	11957	OMIM:300895	Ohdo syndrome, X-linked	.	228
HP:0000448	HP:0000448	Prominent nose	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.	228
HP:0000448	HP:0000448	Prominent nose	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0000448	HP:0000448	Prominent nose	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0000448	HP:0000448	Prominent nose	0	NBN CL E G H	4683	7652	ORPHA:647	Nijmegen breakage syndrome	HP:0040281 - Very frequent	706
HP:0000448	HP:0000448	Prominent nose	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040282 - Frequent	40
HP:0000448	HP:0000448	Prominent nose	0	NHS CL E G H	4810	7820	OMIM:302350	Nance-Horan syndrome	.	88
HP:0000448	HP:0000448	Prominent nose	0	NHS CL E G H	4810	7820	ORPHA:627	Nance-Horan syndrome	HP:0040281 - Very frequent	88
HP:0000448	HP:0000448	Prominent nose	0	NIN CL E G H	51199	14906	ORPHA:319675	Microcephalic primordial dwarfism, Dauber type	HP:0040282 - Frequent	55
HP:0000448	HP:0000448	Prominent nose	0	NIN CL E G H	51199	14906	OMIM:614851	Seckel syndrome 7	.	55
HP:0000448	HP:0000448	Prominent nose	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent	10
HP:0000448	HP:0000448	Prominent nose	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0000448	HP:0000448	Prominent nose	0	NSUN2 CL E G H	54888	25994	OMIM:611091	Mental retardation, autosomal recessive 5	.	84
HP:0000448	HP:0000448	Prominent nose	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0000448	HP:0000448	Prominent nose	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0000448	HP:0000448	Prominent nose	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040281 - Very frequent	531
HP:0000448	HP:0000448	Prominent nose	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0000448	HP:0000448	Prominent nose	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0000448	HP:0000448	Prominent nose	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0000448	HP:0000448	Prominent nose	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.	47
HP:0000448	HP:0000448	Prominent nose	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0000448	HP:0000448	Prominent nose	0	PLK4 CL E G H	10733	11397	OMIM:616171	Microcephaly and chorioretinopathy, autosomal recessive, 2	HP:0040283 - Occasional	11
HP:0000448	HP:0000448	Prominent nose	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent	150
HP:0000448	HP:0000448	Prominent nose	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis	.	10
HP:0000448	HP:0000448	Prominent nose	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.	20
HP:0000448	HP:0000448	Prominent nose	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0000448	HP:0000448	Prominent nose	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0000448	HP:0000448	Prominent nose	0	RBBP8 CL E G H	5932	9891	OMIM:251255	Jawad syndrome		68
HP:0000448	HP:0000448	Prominent nose	0	RBBP8 CL E G H	5932	9891	OMIM:606744	Seckel syndrome 2		68
HP:0000448	HP:0000448	Prominent nose	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	.	7
HP:0000448	HP:0000448	Prominent nose	0	RNU4ATAC CL E G H	100151683	34016	OMIM:226960	EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS		15
HP:0000448	HP:0000448	Prominent nose	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent	15
HP:0000448	HP:0000448	Prominent nose	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0000448	HP:0000448	Prominent nose	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0000448	HP:0000448	Prominent nose	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0000448	HP:0000448	Prominent nose	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0000448	HP:0000448	Prominent nose	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS		1
HP:0000448	HP:0000448	Prominent nose	0	SPART CL E G H	23111	18514	ORPHA:101000	Autosomal recessive spastic paraplegia type 20	HP:0040283 - Occasional	66
HP:0000448	HP:0000448	Prominent nose	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2		16
HP:0000448	HP:0000448	Prominent nose	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	.	138
HP:0000448	HP:0000448	Prominent nose	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	.	1
HP:0000448	HP:0000448	Prominent nose	0	STIL CL E G H	6491	10879	OMIM:612703	Microcephaly 7, primary, autosomal recessive		99
HP:0000448	HP:0000448	Prominent nose	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0000448	HP:0000448	Prominent nose	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040282 - Frequent	11
HP:0000448	HP:0000448	Prominent nose	0	TAF6 CL E G H	6878	11540	OMIM:617126	Alazami-Yuan syndrome	.	5
HP:0000448	HP:0000448	Prominent nose	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0000448	HP:0000448	Prominent nose	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0000448	HP:0000448	Prominent nose	0	TTI2 CL E G H	80185	26262	OMIM:615541	Mental retardation, autosomal recessive 39	.	11
HP:0000448	HP:0000448	Prominent nose	0	TTI2 CL E G H	80185	26262	ORPHA:391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	HP:0040283 - Occasional	11
HP:0000448	HP:0000448	Prominent nose	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2		23
HP:0000448	HP:0000448	Prominent nose	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0000448	HP:0000448	Prominent nose	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0000448	HP:0000448	Prominent nose	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0000448	HP:0000448	Prominent nose	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS