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:0002991	HP:0002991	Abnormality of fibula morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002991	HP:0002991	Abnormality of fibula morphology	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:0002991	HP:0002991	Abnormality of fibula morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked		7
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		90
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:85198	Dysspondyloenchondromatosis	HP:0040282 - Frequent	284
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type		45
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1540	Jackson-Weiss syndrome	HP:0040283 - Occasional	175
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome		145
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent	233
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia		233
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome		52
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type		3
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	106
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type		8
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome		58
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type		49
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	67
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia		66
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0002991	HP:0002991	Abnormality of fibula morphology	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0002991	HP:0030045	Serpentine fibula	1	CL E G H
HP:0002991	HP:0100535	Tibiofibular diastasis	1	CL E G H
HP:0002991	HP:0041222	Fractured fibula	1	CL E G H
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	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:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0002991	HP:0003085	Long fibula	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type		90
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0002991	HP:0003099	Fibular overgrowth	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1		85
HP:0002991	HP:0010502	Fibular bowing	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002991	HP:0010502	Fibular bowing	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002991	HP:0010502	Fibular bowing	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1		215
HP:0002991	HP:0010502	Fibular bowing	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002991	HP:0010502	Fibular bowing	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002991	HP:0010502	Fibular bowing	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002991	HP:0003085	Long fibula	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.	45
HP:0002991	HP:0003099	Fibular overgrowth	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002991	HP:0003099	Fibular overgrowth	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0002991	HP:0010502	Fibular bowing	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2		493
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia		233
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0002991	HP:0005928	Synostosis involving the fibula	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0002991	HP:0012107	Increased fibular diameter	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0002991	HP:0003085	Long fibula	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.	3
HP:0002991	HP:0003085	Long fibula	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040281 - Very frequent	3
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0002991	HP:0003099	Fibular overgrowth	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002991	HP:0012107	Increased fibular diameter	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia		18
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia		106
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0002991	HP:0010503	Fibular duplication	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0002991	HP:0010503	Fibular duplication	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0002991	HP:0010503	Fibular duplication	1	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0002991	HP:0031107	Decreased fibular diameter	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002991	HP:0003085	Long fibula	1	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	.	8
HP:0002991	HP:0031107	Decreased fibular diameter	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA		2
HP:0002991	HP:0010502	Fibular bowing	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002991	HP:0005928	Synostosis involving the fibula	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome		58
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type		49
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SHOX CL E G H	6473	10853	ORPHA:2632	Langer mesomelic dysplasia	HP:0040281 - Very frequent	66
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002991	HP:0010502	Fibular bowing	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia		9
HP:0002991	HP:0012107	Increased fibular diameter	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002991	HP:0031107	Decreased fibular diameter	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.	2
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome		5
HP:0002991	HP:0010502	Fibular bowing	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly		13
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type		13
HP:0002991	HP:0006492	Aplasia/Hypoplasia of the fibula	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0002991	HP:0003038	Fibular hypoplasia	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002991	HP:0003038	Fibular hypoplasia	2	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:0002991	HP:0003038	Fibular hypoplasia	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0002991	HP:0002990	Fibular aplasia	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0002991	HP:0003038	Fibular hypoplasia	2	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0002991	HP:0003038	Fibular hypoplasia	2	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040283 - Occasional	4
HP:0002991	HP:0002990	Fibular aplasia	2	BMPR1B CL E G H	658	1077	OMIM:609441	Acromesomelic dysplasia, Demirhan type	.	90
HP:0002991	HP:0003038	Fibular hypoplasia	2	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0002991	HP:0005067	Proximal fibular overgrowth	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.	85
HP:0002991	HP:0003038	Fibular hypoplasia	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0002991	HP:0002990	Fibular aplasia	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002991	HP:0003038	Fibular hypoplasia	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0002991	HP:0003038	Fibular hypoplasia	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0002991	HP:0002990	Fibular aplasia	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent	493
HP:0002991	HP:0003038	Fibular hypoplasia	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0002991	HP:0002990	Fibular aplasia	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0002991	HP:0002990	Fibular aplasia	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0002991	HP:0002990	Fibular aplasia	2	FLNB CL E G H	2317	3755	OMIM:112310	Boomerang dysplasia	.	233
HP:0002991	HP:0003038	Fibular hypoplasia	2	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0002991	HP:0003038	Fibular hypoplasia	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0002991	HP:0003038	Fibular hypoplasia	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0002991	HP:0002990	Fibular aplasia	2	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly		52
HP:0002991	HP:0003038	Fibular hypoplasia	2	GDF5 CL E G H	8200	4220	OMIM:228900	Fibular hypoplasia and complex brachydactyly	.	52
HP:0002991	HP:0005892	Proximal tibial and fibular fusion	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0002991	HP:0003038	Fibular hypoplasia	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0002991	HP:0003038	Fibular hypoplasia	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0002991	HP:0003038	Fibular hypoplasia	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	18
HP:0002991	HP:0003038	Fibular hypoplasia	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002991	HP:0002990	Fibular aplasia	2	LMBR1 CL E G H	64327	13243	ORPHA:931	Acheiropodia	HP:0040281 - Very frequent	106
HP:0002991	HP:0002990	Fibular aplasia	2	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0002991	HP:0003038	Fibular hypoplasia	2	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to	HP:0040283 - Occasional	375
HP:0002991	HP:0005892	Proximal tibial and fibular fusion	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0002991	HP:0003038	Fibular hypoplasia	2	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent	58
HP:0002991	HP:0003038	Fibular hypoplasia	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.	58
HP:0002991	HP:0002990	Fibular aplasia	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional	10
HP:0002991	HP:0002990	Fibular aplasia	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002991	HP:0003038	Fibular hypoplasia	2	SF3B4 CL E G H	10262	10771	ORPHA:1788	Acrofacial dysostosis, Rodríguez type	HP:0040282 - Frequent	49
HP:0002991	HP:0003038	Fibular hypoplasia	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0002991	HP:0003038	Fibular hypoplasia	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002991	HP:0003038	Fibular hypoplasia	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent	9
HP:0002991	HP:0003038	Fibular hypoplasia	2	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0002991	HP:0003038	Fibular hypoplasia	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0002991	HP:0003038	Fibular hypoplasia	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0002991	HP:0003038	Fibular hypoplasia	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0002991	HP:0002990	Fibular aplasia	2	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5
HP:0002991	HP:0002990	Fibular aplasia	2	WNT7A CL E G H	7476	12786	OMIM:228930	Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly	.	13
HP:0002991	HP:0002990	Fibular aplasia	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0002991	HP:0002990	Fibular aplasia	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency		13
HP:0002991	HP:0006442	Hypoplasia of proximal fibula	3	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0002991	HP:0006381	Rudimentary fibula	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002991	HP:0006381	Rudimentary fibula	3	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66