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:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome		6
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome		58
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type		49
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0006492	HP:0006492	Aplasia/Hypoplasia of the fibula	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0006492	HP:0003038	Fibular hypoplasia	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0006492	HP:0003038	Fibular hypoplasia	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040283 - Occasional	6
HP:0006492	HP:0002990	Fibular aplasia	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0006492	HP:0003038	Fibular hypoplasia	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0006492	HP:0003038	Fibular hypoplasia	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0006492	HP:0003038	Fibular hypoplasia	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0006492	HP:0002990	Fibular aplasia	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0006492	HP:0003038	Fibular hypoplasia	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0006492	HP:0003038	Fibular hypoplasia	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0006492	HP:0002990	Fibular aplasia	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006492	HP:0003038	Fibular hypoplasia	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0006492	HP:0003038	Fibular hypoplasia	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0006492	HP:0002990	Fibular aplasia	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0006492	HP:0003038	Fibular hypoplasia	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0006492	HP:0002990	Fibular aplasia	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0006492	HP:0002990	Fibular aplasia	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0006492	HP:0002990	Fibular aplasia	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0006492	HP:0003038	Fibular hypoplasia	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0006492	HP:0003038	Fibular hypoplasia	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0006492	HP:0003038	Fibular hypoplasia	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0006492	HP:0002990	Fibular aplasia	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0006492	HP:0003038	Fibular hypoplasia	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly	.	52
HP:0006492	HP:0003038	Fibular hypoplasia	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0006492	HP:0003038	Fibular hypoplasia	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0006492	HP:0003038	Fibular hypoplasia	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0006492	HP:0003038	Fibular hypoplasia	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0006492	HP:0002990	Fibular aplasia	1	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0006492	HP:0002990	Fibular aplasia	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0006492	HP:0003038	Fibular hypoplasia	1	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to	HP:0040283 - Occasional	375
HP:0006492	HP:0003038	Fibular hypoplasia	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.	58
HP:0006492	HP:0003038	Fibular hypoplasia	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0006492	HP:0002990	Fibular aplasia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006492	HP:0002990	Fibular aplasia	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0006492	HP:0003038	Fibular hypoplasia	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent	49
HP:0006492	HP:0003038	Fibular hypoplasia	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0006492	HP:0003038	Fibular hypoplasia	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0006492	HP:0003038	Fibular hypoplasia	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0006492	HP:0003038	Fibular hypoplasia	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0006492	HP:0003038	Fibular hypoplasia	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0006492	HP:0003038	Fibular hypoplasia	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0006492	HP:0003038	Fibular hypoplasia	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0006492	HP:0002990	Fibular aplasia	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0006492	HP:0002990	Fibular aplasia	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.	13
HP:0006492	HP:0002990	Fibular aplasia	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0006492	HP:0002990	Fibular aplasia	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0006492	HP:0006442	Hypoplasia of proximal fibula	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0006492	HP:0006381	Rudimentary fibula	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0006492	HP:0006381	Rudimentary fibula	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66