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:0002699	HP:0002699	Abnormal foramen magnum morphology	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3		89
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I		145
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II		145
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia		493
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome		233
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome		2
HP:0002699	HP:0002699	Abnormal foramen magnum morphology	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia		90
HP:0002699	HP:0002677	Small foramen magnum	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa		89
HP:0002699	HP:0002677	Small foramen magnum	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional	89
HP:0002699	HP:0002677	Small foramen magnum	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0002699	HP:0002700	Large foramen magnum	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0002699	HP:0002677	Small foramen magnum	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa		172
HP:0002699	HP:0002700	Large foramen magnum	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0002699	HP:0002677	Small foramen magnum	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa		63
HP:0002699	HP:0002677	Small foramen magnum	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	.	145
HP:0002699	HP:0002677	Small foramen magnum	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.	145
HP:0002699	HP:0002677	Small foramen magnum	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.	145
HP:0002699	HP:0002700	Large foramen magnum	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.	493
HP:0002699	HP:0002677	Small foramen magnum	1	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233
HP:0002699	HP:0002700	Large foramen magnum	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0002699	HP:0002677	Small foramen magnum	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0002699	HP:0002677	Small foramen magnum	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia		25
HP:0002699	HP:0002677	Small foramen magnum	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:0002699	HP:0002677	Small foramen magnum	1	LBR CL E G H	3930	6518	OMIM:618019	PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK		70
HP:0002699	HP:0002700	Large foramen magnum	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0002699	HP:0002677	Small foramen magnum	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0002699	HP:0002700	Large foramen magnum	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90