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:0003100	HP:0003100	Slender long bone	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0003100	HP:0003100	Slender long bone	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0003100	HP:0003100	Slender long bone	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0003100	HP:0003100	Slender long bone	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0003100	HP:0003100	Slender long bone	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0003100	HP:0003100	Slender long bone	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome	.	7
HP:0003100	HP:0003100	Slender long bone	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0003100	HP:0003100	Slender long bone	0	CCDC8 CL E G H	83987	25367	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	5
HP:0003100	HP:0003100	Slender long bone	0	CCDC8 CL E G H	83987	25367	OMIM:614205	THREE M SYNDROME 3; 3M3		5
HP:0003100	HP:0003100	Slender long bone	0	CDC45 CL E G H	8318	1739	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	9
HP:0003100	HP:0003100	Slender long bone	0	CDC6 CL E G H	990	1744	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	31
HP:0003100	HP:0003100	Slender long bone	0	CDC6 CL E G H	990	1744	OMIM:613805	Meier-Gorlin syndrome 5	.	31
HP:0003100	HP:0003100	Slender long bone	0	CDT1 CL E G H	81620	24576	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	50
HP:0003100	HP:0003100	Slender long bone	0	CDT1 CL E G H	81620	24576	OMIM:613804	Meier-Gorlin syndrome 4	.	50
HP:0003100	HP:0003100	Slender long bone	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0003100	HP:0003100	Slender long bone	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0003100	HP:0003100	Slender long bone	0	CUL7 CL E G H	9820	21024	OMIM:273750	3-M syndrome 1	.	127
HP:0003100	HP:0003100	Slender long bone	0	CUL7 CL E G H	9820	21024	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	127
HP:0003100	HP:0003100	Slender long bone	0	ERCC1 CL E G H	2067	3433	OMIM:610758	Cerebrooculofacioskeletal syndrome 4	.	20
HP:0003100	HP:0003100	Slender long bone	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia		8
HP:0003100	HP:0003100	Slender long bone	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0003100	HP:0003100	Slender long bone	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome		111
HP:0003100	HP:0003100	Slender long bone	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent	45
HP:0003100	HP:0003100	Slender long bone	0	GMNN CL E G H	51053	17493	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	3
HP:0003100	HP:0003100	Slender long bone	0	HARS1 CL E G H	3035	4816	ORPHA:488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	HP:0040283 - Occasional
HP:0003100	HP:0003100	Slender long bone	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003100	HP:0003100	Slender long bone	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD		3
HP:0003100	HP:0003100	Slender long bone	0	KCNJ2 CL E G H	3759	6263	OMIM:170390	Andersen cardiodysrhythmic periodic paralysis	.	193
HP:0003100	HP:0003100	Slender long bone	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional	16
HP:0003100	HP:0003100	Slender long bone	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent	63
HP:0003100	HP:0003100	Slender long bone	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.	39
HP:0003100	HP:0003100	Slender long bone	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.	72
HP:0003100	HP:0003100	Slender long bone	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0003100	HP:0003100	Slender long bone	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040281 - Very frequent	40
HP:0003100	HP:0003100	Slender long bone	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0003100	HP:0003100	Slender long bone	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0003100	HP:0003100	Slender long bone	0	OBSL1 CL E G H	23363	29092	OMIM:612921	3-M syndrome 2		143
HP:0003100	HP:0003100	Slender long bone	0	OBSL1 CL E G H	23363	29092	ORPHA:2616	3M syndrome	HP:0040281 - Very frequent	143
HP:0003100	HP:0003100	Slender long bone	0	ORC1 CL E G H	4998	8487	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	53
HP:0003100	HP:0003100	Slender long bone	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.	53
HP:0003100	HP:0003100	Slender long bone	0	ORC4 CL E G H	5000	8490	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	21
HP:0003100	HP:0003100	Slender long bone	0	ORC4 CL E G H	5000	8490	OMIM:613800	Meier-Gorlin syndrome 2	.	21
HP:0003100	HP:0003100	Slender long bone	0	ORC6 CL E G H	23594	17151	ORPHA:2554	Ear-patella-short stature syndrome	HP:0040281 - Very frequent	39
HP:0003100	HP:0003100	Slender long bone	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.	39
HP:0003100	HP:0003100	Slender long bone	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0003100	HP:0003100	Slender long bone	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0003100	HP:0003100	Slender long bone	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.	28
HP:0003100	HP:0003100	Slender long bone	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent	12
HP:0003100	HP:0003100	Slender long bone	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003100	HP:0003100	Slender long bone	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0003100	HP:0003100	Slender long bone	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0003100	HP:0003100	Slender long bone	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040282 - Frequent	2
HP:0003100	HP:0003100	Slender long bone	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.	11
HP:0003100	HP:0003100	Slender long bone	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0003100	HP:0003100	Slender long bone	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.	52
HP:0003100	HP:0003100	Slender long bone	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome		6
HP:0003100	HP:0040062	Slender radius	1	CL E G H
HP:0003100	HP:0003882	Slender humerus	1	CL E G H
HP:0003100	HP:0004993	Slender long bones with narrow diaphyses	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0003100	HP:0004993	Slender long bones with narrow diaphyses	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0003100	HP:0004993	Slender long bones with narrow diaphyses	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	111
HP:0003100	HP:0004993	Slender long bones with narrow diaphyses	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003100	HP:0003992	Slender ulna	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.	135
HP:0003100	HP:0004993	Slender long bones with narrow diaphyses	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional	6