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:0002992	HP:0002992	Abnormality of tibia morphology	0	ACTB CL E G H	60	132	ORPHA:64755	Becker nevus syndrome	HP:0040283 - Occasional	72
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		530
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex		4
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome		4
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	BMPR1B CL E G H	658	1077	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	90
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma		833
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations		165
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia		222
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease		373
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		284
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	COL9A3 CL E G H	1299	2219	OMIM:620022			137
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent	114
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		41
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets		5
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		48
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets		151
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	96
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040283 - Occasional	102
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome		145
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome		2
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome		493
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I		233
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III		233
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent	233
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type		9
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		10
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		139
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GDF5 CL E G H	8200	4220	ORPHA:2639	Fibular aplasia-complex brachydactyly syndrome	HP:0040281 - Very frequent	52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum		52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		54
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040282 - Frequent	55
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		106
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional	165
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type		52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II		531
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy		11
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant		217
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma		365
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome		10
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia		37
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement		34
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		1053
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		126
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		427
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		318
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome		67
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature		66
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II		166
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies		15
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus		9
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent	16
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4		31
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040282 - Frequent	13
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma		911
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda		46
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040281 - Very frequent	13
HP:0002992	HP:0002992	Abnormality of tibia morphology	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0002992	HP:0100535	Tibiofibular diastasis	1	CL E G H
HP:0002992	HP:0010504	Increased length of the tibia	1	CL E G H
HP:0002992	HP:0041143	Fractured tibia	1	CL E G H
HP:0002992	HP:0031173	Tibial spur	1	CL E G H
HP:0002992	HP:0010890	Morbus Osgood-Schlatter	1	CL E G H
HP:0002992	HP:0100694	Tibial torsion	1	ADGRV1 CL E G H	84059	17416	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	530
HP:0002992	HP:0006491	Abnormal tibial metaphysis morphology	1	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration		60
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex	HP:0040281 - Very frequent	4
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040282 - Frequent	4
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0002992	HP:0006491	Abnormal tibial metaphysis morphology	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	833
HP:0002992	HP:0002982	Tibial bowing	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0002992	HP:0002982	Tibial bowing	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002992	HP:0002982	Tibial bowing	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002992	HP:0002982	Tibial bowing	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002992	HP:0002982	Tibial bowing	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional	6
HP:0002992	HP:0002982	Tibial bowing	1	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type		79
HP:0002992	HP:0006508	Abnormality of tibial epiphyses	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0002992	HP:0002982	Tibial bowing	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional	222
HP:0002992	HP:0002982	Tibial bowing	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	373
HP:0002992	HP:0002982	Tibial bowing	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0002992	HP:0002982	Tibial bowing	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002992	HP:0002982	Tibial bowing	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0002992	HP:0002982	Tibial bowing	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002992	HP:0002982	Tibial bowing	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia		284
HP:0002992	HP:0006508	Abnormality of tibial epiphyses	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0002992	HP:0100694	Tibial torsion	1	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0002992	HP:0002982	Tibial bowing	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0002992	HP:0100694	Tibial torsion	1	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2		110
HP:0002992	HP:0100694	Tibial torsion	1	COL9A3 CL E G H	1299	2219	OMIM:620022			137
HP:0002992	HP:0002982	Tibial bowing	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002992	HP:0002982	Tibial bowing	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0002992	HP:0002982	Tibial bowing	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002992	HP:0002982	Tibial bowing	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0002992	HP:0002982	Tibial bowing	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002992	HP:0100694	Tibial torsion	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0002992	HP:0002982	Tibial bowing	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:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0006508	Abnormality of tibial epiphyses	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0002982	Tibial bowing	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	48
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0002992	HP:0002982	Tibial bowing	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease		65
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0002992	HP:0031260	Triangular tibia	1	EN1 CL E G H	2019	3342	OMIM:619218	ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB		1
HP:0002992	HP:0002982	Tibial bowing	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent	151
HP:0002992	HP:0002982	Tibial bowing	1	FGFR3 CL E G H	2261	3690	ORPHA:85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0002992	HP:0100694	Tibial torsion	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0002992	HP:0002982	Tibial bowing	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional	2
HP:0002992	HP:0002982	Tibial bowing	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.	493
HP:0002992	HP:0002982	Tibial bowing	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0002992	HP:0002982	Tibial bowing	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.	233
HP:0002992	HP:0002982	Tibial bowing	1	FLNB CL E G H	2317	3755	OMIM:108721	Atelosteogenesis, type III	.	233
HP:0002992	HP:0002982	Tibial bowing	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0002992	HP:0100694	Tibial torsion	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	134
HP:0002992	HP:0100694	Tibial torsion	1	GABRD CL E G H	2563	4084	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	10
HP:0002992	HP:0100694	Tibial torsion	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	139
HP:0002992	HP:0100694	Tibial torsion	1	GABRG2 CL E G H	2566	4087	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	139
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0002992	HP:0005929	Synostosis involving the tibia	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0002992	HP:0002982	Tibial bowing	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0002992	HP:0100694	Tibial torsion	1	HCN1 CL E G H	348980	4845	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	54
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0002992	HP:0002982	Tibial bowing	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	106
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0002982	Tibial bowing	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:0002992	HP:0006508	Abnormality of tibial epiphyses	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0002982	Tibial bowing	1	MMP13 CL E G H	4322	7159	ORPHA:93356	Spondyloepimetaphyseal dysplasia, Missouri type	HP:0040282 - Frequent	52
HP:0002992	HP:0002982	Tibial bowing	1	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0002992	HP:0009736	Tibial pseudarthrosis	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0002992	HP:0002982	Tibial bowing	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0002992	HP:0100694	Tibial torsion	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	225
HP:0002992	HP:0002982	Tibial bowing	1	PCNT CL E G H	5116	16068	OMIM:210720	Microcephalic osteodysplastic primordial dwarfism, type II	.	531
HP:0002992	HP:0002982	Tibial bowing	1	PCYT1A CL E G H	5130	8754	OMIM:608940	Spondylometaphyseal dysplasia with cone-rod dystrophy	.	11
HP:0002992	HP:0002982	Tibial bowing	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.	217
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002992	HP:0005929	Synostosis involving the tibia	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0002992	HP:0100694	Tibial torsion	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0002992	HP:0006491	Abnormal tibial metaphysis morphology	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	365
HP:0002992	HP:0100694	Tibial torsion	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0002992	HP:0100694	Tibial torsion	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040282 - Frequent	10
HP:0002992	HP:0002982	Tibial bowing	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0002992	HP:0002982	Tibial bowing	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:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002992	HP:0006508	Abnormality of tibial epiphyses	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002992	HP:0002982	Tibial bowing	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0002992	HP:0002982	Tibial bowing	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002992	HP:0100694	Tibial torsion	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	1053
HP:0002992	HP:0100694	Tibial torsion	1	SCN1A CL E G H	6323	10585	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	1053
HP:0002992	HP:0100694	Tibial torsion	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	126
HP:0002992	HP:0100694	Tibial torsion	1	SCN1B CL E G H	6324	10586	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	126
HP:0002992	HP:0100694	Tibial torsion	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	427
HP:0002992	HP:0100694	Tibial torsion	1	SCN2A CL E G H	6326	10588	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	427
HP:0002992	HP:0100694	Tibial torsion	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040283 - Occasional	318
HP:0002992	HP:0100694	Tibial torsion	1	SCN9A CL E G H	6335	10597	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	318
HP:0002992	HP:0002982	Tibial bowing	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002992	HP:0002982	Tibial bowing	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	67
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0002992	HP:0002982	Tibial bowing	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0002992	HP:0002982	Tibial bowing	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002992	HP:0002982	Tibial bowing	1	SHOX CL E G H	6473	10853	ORPHA:314795	SHOX-related short stature	HP:0040281 - Very frequent	66
HP:0002992	HP:0100694	Tibial torsion	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040282 - Frequent	166
HP:0002992	HP:0100694	Tibial torsion	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0002992	HP:0002982	Tibial bowing	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002992	HP:0002982	Tibial bowing	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0002992	HP:0002982	Tibial bowing	1	SMOC1 CL E G H	64093	20318	OMIM:206920	Microphthalmia with limb anomalies	.	15
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0002992	HP:0002982	Tibial bowing	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia		109
HP:0002992	HP:0002982	Tibial bowing	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0002992	HP:0100694	Tibial torsion	1	STX1B CL E G H	112755	18539	ORPHA:36387	Generalized epilepsy with febrile seizures-plus	HP:0040284 - Very rare	9
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0002992	HP:0006491	Abnormal tibial metaphysis morphology	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040282 - Frequent	911
HP:0002992	HP:0003832	Abnormality of the tibial plateaux	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0002992	HP:0002982	Tibial bowing	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002992	HP:0005772	Aplasia/Hypoplasia of the tibia	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5
HP:0002992	HP:0010592	Abnormality of the distal tibial epiphysis	2	CL E G H
HP:0002992	HP:0006413	Broad tibial metaphyses	2	CL E G H
HP:0002992	HP:0041089	Avulsion fractured tibia	2	CL E G H
HP:0002992	HP:0003833	Laterally deficient tibial plateaux	2	CL E G H
HP:0002992	HP:0034373	External tibial torsion	2	CL E G H
HP:0002992	HP:0006423	Peg-like central prominence of distal tibial metaphyses	2	AIFM1 CL E G H	9131	8768	OMIM:300232	Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration	.	60
HP:0002992	HP:0005736	Short tibia	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0002992	HP:0009556	Absent tibia	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0002992	HP:0005736	Short tibia	2	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0002992	HP:0009556	Absent tibia	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0002992	HP:0006414	Distal tibial bowing	2	COL10A1 CL E G H	1300	2185	OMIM:156500	Metaphyseal chondrodysplasia, Schmid type	.	79
HP:0002992	HP:0010591	Abnormality of the proximal tibial epiphysis	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0002992	HP:0034372	Internal tibial torsion	2	COL2A1 CL E G H	1280	2200	OMIM:616583	Spondyloepiphyseal dysplasia, Stanescu type		284
HP:0002992	HP:0034372	Internal tibial torsion	2	COL9A3 CL E G H	1299	2219	OMIM:620022			137
HP:0002992	HP:0005736	Short tibia	2	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:0002992	HP:0010591	Abnormality of the proximal tibial epiphysis	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0005736	Short tibia	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0002992	HP:0009556	Absent tibia	2	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0002992	HP:0005736	Short tibia	2	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0002992	HP:0005736	Short tibia	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0002992	HP:0005736	Short tibia	2	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0002992	HP:0005736	Short tibia	2	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0002992	HP:0005736	Short tibia	2	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0002992	HP:0006426	Rudimentary to absent tibiae	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0002992	HP:0005736	Short tibia	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0002992	HP:0009556	Absent tibia	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040281 - Very frequent	270
HP:0002992	HP:0005892	Proximal tibial and fibular fusion	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0002992	HP:0005736	Short tibia	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0002992	HP:0005736	Short tibia	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002992	HP:0005736	Short tibia	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0002992	HP:0005736	Short tibia	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002992	HP:0005736	Short tibia	2	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0002992	HP:0005736	Short tibia	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0002992	HP:0005736	Short tibia	2	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0002992	HP:0009556	Absent tibia	2	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0002992	HP:0009556	Absent tibia	2	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0002992	HP:0005736	Short tibia	2	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	106
HP:0002992	HP:0009556	Absent tibia	2	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly	.	106
HP:0002992	HP:0005736	Short tibia	2	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0002992	HP:0005736	Short tibia	2	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:0002992	HP:0010591	Abnormality of the proximal tibial epiphysis	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002992	HP:0005736	Short tibia	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0002992	HP:0005736	Short tibia	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0002992	HP:0009556	Absent tibia	2	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002992	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:0002992	HP:0005736	Short tibia	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002992	HP:0010591	Abnormality of the proximal tibial epiphysis	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002992	HP:0006390	Anterior tibial bowing	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0002992	HP:0005736	Short tibia	2	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	67
HP:0002992	HP:0005736	Short tibia	2	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0002992	HP:0005736	Short tibia	2	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0002992	HP:0005736	Short tibia	2	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0002992	HP:0005736	Short tibia	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0002992	HP:0005736	Short tibia	2	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0002992	HP:0006390	Anterior tibial bowing	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.	109
HP:0002992	HP:0005736	Short tibia	2	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0002992	HP:0012284	Small proximal tibial epiphyses	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0002992	HP:0006456	Irregular proximal tibial epiphyses	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0002992	HP:0012284	Small proximal tibial epiphyses	3	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:0002992	HP:0006379	Proximal tibial hypoplasia	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0002992	HP:0012284	Small proximal tibial epiphyses	3	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:0002992	HP:0005766	Disproportionate shortening of the tibia	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101
HP:0002992	HP:0012284	Small proximal tibial epiphyses	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional