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:0003189	HP:0003189	Long nose	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.	51
HP:0003189	HP:0003189	Long nose	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	72
HP:0003189	HP:0003189	Long nose	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040282 - Frequent	123
HP:0003189	HP:0003189	Long nose	0	AP1S2 CL E G H	8905	560	ORPHA:85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	HP:0040281 - Very frequent	13
HP:0003189	HP:0003189	Long nose	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0003189	HP:0003189	Long nose	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0003189	HP:0003189	Long nose	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0003189	HP:0003189	Long nose	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:0003189	HP:0003189	Long nose	0	GJA1 CL E G H	2697	4274	OMIM:257850	Oculodentodigital dysplasia, autosomal recessive	.	68
HP:0003189	HP:0003189	Long nose	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257
HP:0003189	HP:0003189	Long nose	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040281 - Very frequent	141
HP:0003189	HP:0003189	Long nose	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0003189	HP:0003189	Long nose	0	NBN CL E G H	4683	7652	OMIM:251260	Nijmegen breakage syndrome	.	706
HP:0003189	HP:0003189	Long nose	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0003189	HP:0003189	Long nose	0	NOG CL E G H	9241	7866	OMIM:184460	Stapes ankylosis with broad thumb and toes		22
HP:0003189	HP:0003189	Long nose	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.	138
HP:0003189	HP:0003189	Long nose	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	.	55
HP:0003189	HP:0003189	Long nose	0	PIEZO2 CL E G H	63895	26270	OMIM:617146	Arthrogryposis, distal, with impaired proprioception and touch	.	77
HP:0003189	HP:0003189	Long nose	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0003189	HP:0003189	Long nose	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003189	HP:0003189	Long nose	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	.	1129
HP:0003189	HP:0003189	Long nose	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0003189	HP:0003189	Long 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:0003189	HP:0003189	Long nose	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome	.	34
HP:0003189	HP:0003189	Long nose	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0003189	HP:0003189	Long nose	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0003189	HP:0003189	Long nose	0	SLC9A6 CL E G H	10479	11079	OMIM:300243	Mental retardation, x-linked syndromic, Christianson type	.	93
HP:0003189	HP:0003189	Long nose	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0003189	HP:0003189	Long nose	0	SOX11 CL E G H	6664	11191	OMIM:615866	Mental retardation, autosomal dominant 27	.	14
HP:0003189	HP:0003189	Long nose	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome	.	7
HP:0003189	HP:0003189	Long nose	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040283 - Occasional	19
HP:0003189	HP:0003189	Long nose	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040283 - Occasional	138
HP:0003189	HP:0003189	Long nose	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0003189	HP:0003189	Long nose	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040281 - Very frequent	1
HP:0003189	HP:0003189	Long nose	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:0003189	HP:0003189	Long nose	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:0003189	HP:0003189	Long nose	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0003189	HP:0003189	Long nose	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22		16
HP:0003189	HP:0003189	Long nose	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC