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:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1		63
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia		172
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome		175
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome		175
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome		233
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II		240
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome		16
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion		8
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation		8
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome		3
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome		645
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness		91
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X		52
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency		2
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome		18
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome		18
HP:3000030	HP:3000030	Abnormal morphology of bony orbit of skull	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome		83
HP:3000030	HP:0041156	Fractured orbit of skull	1	CL E G H
HP:3000030	HP:0000586	Shallow orbits	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:3000030	HP:0000586	Shallow orbits	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional	93
HP:3000030	HP:0000586	Shallow orbits	1	CACNA1C CL E G H	775	1390	OMIM:620029			572
HP:3000030	HP:0000586	Shallow orbits	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:3000030	HP:0000586	Shallow orbits	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:3000030	HP:0000586	Shallow orbits	1	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:3000030	HP:0000586	Shallow orbits	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:3000030	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:3000030	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:123500	Crouzon syndrome	.	175
HP:3000030	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:3000030	HP:0000586	Shallow orbits	1	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.	175
HP:3000030	HP:0000586	Shallow orbits	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.	233
HP:3000030	HP:0000586	Shallow orbits	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:3000030	HP:0000586	Shallow orbits	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:3000030	HP:0000586	Shallow orbits	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional	8
HP:3000030	HP:0000586	Shallow orbits	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional	8
HP:3000030	HP:0000586	Shallow orbits	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:3000030	HP:0000586	Shallow orbits	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA		18
HP:3000030	HP:0000586	Shallow orbits	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:3000030	HP:0000586	Shallow orbits	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS		1
HP:3000030	HP:0000586	Shallow orbits	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	645
HP:3000030	HP:0000586	Shallow orbits	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:3000030	HP:0000586	Shallow orbits	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.	91
HP:3000030	HP:0000586	Shallow orbits	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:3000030	HP:0000586	Shallow orbits	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:3000030	HP:0005472	Orbital craniosynostosis	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:3000030	HP:0000586	Shallow orbits	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:3000030	HP:0000586	Shallow orbits	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:3000030	HP:0000586	Shallow orbits	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:3000030	HP:0000586	Shallow orbits	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome		2
HP:3000030	HP:0000586	Shallow orbits	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.	52
HP:3000030	HP:0000586	Shallow orbits	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:3000030	HP:0000586	Shallow orbits	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:3000030	HP:0000586	Shallow orbits	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:3000030	HP:0000586	Shallow orbits	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:3000030	HP:0000586	Shallow orbits	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:3000030	HP:0000586	Shallow orbits	1	TWIST1 CL E G H	7291	12428	OMIM:180750	Robinow-Sorauf syndrome	.	18
HP:3000030	HP:0000586	Shallow orbits	1	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.	18
HP:3000030	HP:0000586	Shallow orbits	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent	83