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:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome		192
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	BHLHA9 CL E G H	727857	35126	ORPHA:1986	Gollop-Wolfgang complex	HP:0040281 - Very frequent	4
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	BHLHA9 CL E G H	727857	35126	ORPHA:3329	Tibial aplasia-ectrodactyly syndrome	HP:0040282 - Frequent	4
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type		90
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome		9
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies		4
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III		233
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type		52
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type		52
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type		52
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia		270
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1		99
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome		106
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome		106
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4		106
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	LMBR1 CL E G H	64327	13243	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	106
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2		101
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	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:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4		67
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	SHH CL E G H	6469	10848	ORPHA:988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	HP:0040281 - Very frequent	67
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia		66
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis		66
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies		15
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV		31
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent	31
HP:0005772	HP:0005772	Aplasia/Hypoplasia of the tibia	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5
HP:0005772	HP:0005736	Short tibia	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0005772	HP:0009556	Absent tibia	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional	192
HP:0005772	HP:0005736	Short tibia	1	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0005772	HP:0009556	Absent tibia	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0005772	HP:0005736	Short tibia	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:0005772	HP:0005736	Short tibia	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0005772	HP:0009556	Absent tibia	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0005772	HP:0005736	Short tibia	1	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0005772	HP:0005736	Short tibia	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0005772	HP:0005736	Short tibia	1	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0005772	HP:0005736	Short tibia	1	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0005772	HP:0005736	Short tibia	1	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0005772	HP:0006426	Rudimentary to absent tibiae	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0005772	HP:0005736	Short tibia	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0005772	HP:0009556	Absent tibia	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040281 - Very frequent	270
HP:0005772	HP:0005736	Short tibia	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0005772	HP:0005736	Short tibia	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0005772	HP:0005736	Short tibia	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0005772	HP:0005736	Short tibia	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0005772	HP:0005736	Short tibia	1	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0005772	HP:0005736	Short tibia	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0005772	HP:0005736	Short tibia	1	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0005772	HP:0009556	Absent tibia	1	LMBR1 CL E G H	64327	13243	OMIM:135750	Laurin-Sandrow syndrome	.	106
HP:0005772	HP:0009556	Absent tibia	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040282 - Frequent	106
HP:0005772	HP:0005736	Short tibia	1	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	106
HP:0005772	HP:0005736	Short tibia	1	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0005772	HP:0009556	Absent tibia	1	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly	.	106
HP:0005772	HP:0005736	Short tibia	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:0005772	HP:0005736	Short tibia	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0005772	HP:0005736	Short tibia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0005772	HP:0009556	Absent 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:0005772	HP:0005736	Short tibia	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:0005772	HP:0005736	Short tibia	1	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	67
HP:0005772	HP:0005736	Short tibia	1	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0005772	HP:0005736	Short tibia	1	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0005772	HP:0005736	Short tibia	1	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0005772	HP:0005736	Short tibia	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0005772	HP:0005736	Short tibia	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0005772	HP:0005736	Short tibia	1	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0005772	HP:0006379	Proximal tibial hypoplasia	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0005772	HP:0005766	Disproportionate shortening of the tibia	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101