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:0002056	HP:0002056	Abnormality of the glabella	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0002056	HP:0002056	Abnormality of the glabella	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002056	HP:0002056	Abnormality of the glabella	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002056	HP:0002056	Abnormality of the glabella	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0002056	HP:0002056	Abnormality of the glabella	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002056	HP:0002056	Abnormality of the glabella	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002056	HP:0002056	Abnormality of the glabella	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG		27
HP:0002056	HP:0002056	Abnormality of the glabella	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0002056	HP:0002056	Abnormality of the glabella	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002056	HP:0002056	Abnormality of the glabella	0	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002056	HP:0002056	Abnormality of the glabella	0	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002056	HP:0002056	Abnormality of the glabella	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002056	HP:0002056	Abnormality of the glabella	0	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0002056	HP:0002056	Abnormality of the glabella	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002056	HP:0002056	Abnormality of the glabella	0	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly		25
HP:0002056	HP:0002056	Abnormality of the glabella	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion		1952
HP:0002056	HP:0002056	Abnormality of the glabella	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0002056	HP:0002056	Abnormality of the glabella	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002056	HP:0002056	Abnormality of the glabella	0	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency
HP:0002056	HP:0002056	Abnormality of the glabella	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002056	HP:0002056	Abnormality of the glabella	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0002056	HP:0002056	Abnormality of the glabella	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002056	HP:0002056	Abnormality of the glabella	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0002056	HP:0002056	Abnormality of the glabella	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002056	HP:0002056	Abnormality of the glabella	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040281 - Very frequent	5
HP:0002056	HP:0002057	Prominent glabella	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0002056	HP:0002057	Prominent glabella	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002056	HP:0002057	Prominent glabella	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002056	HP:0002057	Prominent glabella	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0002056	HP:0002057	Prominent glabella	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002056	HP:0002057	Prominent glabella	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002056	HP:0002057	Prominent glabella	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0002056	HP:0011222	Depressed glabella	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0002056	HP:0002057	Prominent glabella	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002056	HP:0002057	Prominent glabella	1	H4C5 CL E G H	8367	4790	OMIM:619950
HP:0002056	HP:0002057	Prominent glabella	1	INTS8 CL E G H	55656	26048	OMIM:618572	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY; NEDCHS		2
HP:0002056	HP:0002057	Prominent glabella	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0002056	HP:0002057	Prominent glabella	1	LMBRD2 CL E G H	92255	25287	OMIM:619694	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0002056	HP:0002057	Prominent glabella	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002056	HP:0002057	Prominent glabella	1	NBAS CL E G H	51594	15625	OMIM:614800	Short stature, optic nerve atrophy, and pelger-huet anomaly	.	25
HP:0002056	HP:0002057	Prominent glabella	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0002056	HP:0002057	Prominent glabella	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0002056	HP:0002057	Prominent glabella	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002056	HP:0002057	Prominent glabella	1	RSPO2 CL E G H	340419	28583	OMIM:618022	Humerofemoral hypoplasia with radiotibial ray deficiency	.
HP:0002056	HP:0002057	Prominent glabella	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002056	HP:0002057	Prominent glabella	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1		16
HP:0002056	HP:0002057	Prominent glabella	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002056	HP:0002057	Prominent glabella	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0002056	HP:0002057	Prominent glabella	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI