Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal long bone morphology (HP:0011314)

Parent Node:
Aplasia/Hypoplasia of the tibia (HP:0005772)

Parent Node:
Short long bone (HP:0003026)

..Starting node
..Short tibia (HP:0005736)

Term ID:

5736

Name:

Short tibia

Synonym:

Hypoplasia of the tibia; Hypoplastic tibia; Short shinbone; Short skankbone; Short tibiae; Shortening of the shankbone; Shortening of the shinbone; Shortening of the tibia

Definition:

Underdevelopment (reduced size) of the tibia.

Comments:

Reference:

HP:0005736

Genes and Diseases:

Child Nodes:

........

Disproportionate shortening of the tibia (HP:0005766)

........

Proximal tibial hypoplasia (HP:0006379)

........

Shortening of the tibia (HP:0006436)

Sister Nodes:

Fibular hypoplasia (HP:0003038)

Forearm undergrowth (HP:0009821)

Short femur (HP:0003097)

Short humerus (HP:0005792)

Short metatarsal (HP:0010743)

Short tubular bones of the hand (HP:0001248)

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:0005736	HP:0005736	Short tibia	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0005736	HP:0005736	Short tibia	0	BMPR1B CL E G H	658	1077	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	90
HP:0005736	HP:0005736	Short tibia	0	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:0005736	HP:0005736	Short tibia	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.	9
HP:0005736	HP:0005736	Short tibia	0	EIF4A3 CL E G H	9775	18683	OMIM:268305	Robin sequence with cleft mandible and limb anomalies	HP:0040283 - Occasional	4
HP:0005736	HP:0005736	Short tibia	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional	233
HP:0005736	HP:0005736	Short tibia	0	GDF5 CL E G H	8200	4220	ORPHA:2098	Acromesomelic dysplasia, Grebe type	HP:0040282 - Frequent	52
HP:0005736	HP:0005736	Short tibia	0	GDF5 CL E G H	8200	4220	OMIM:201250	Acromesomelic dysplasia, Hunter-Thompson type	.	52
HP:0005736	HP:0005736	Short tibia	0	GDF5 CL E G H	8200	4220	OMIM:200700	Chondrodysplasia, Grebe type	.	52
HP:0005736	HP:0005736	Short tibia	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional	270
HP:0005736	HP:0005736	Short tibia	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.	99
HP:0005736	HP:0005736	Short tibia	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0005736	HP:0005736	Short tibia	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia		44
HP:0005736	HP:0005736	Short tibia	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0005736	HP:0005736	Short tibia	0	LAMA5 CL E G H	3911	6485	OMIM:620076			5
HP:0005736	HP:0005736	Short tibia	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0005736	HP:0005736	Short tibia	0	LMBR1 CL E G H	64327	13243	OMIM:200500	ACHEIROPODY; ACHP		106
HP:0005736	HP:0005736	Short tibia	0	LMBR1 CL E G H	64327	13243	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	106
HP:0005736	HP:0005736	Short tibia	0	LMBR1 CL E G H	64327	13243	OMIM:188740	Tibia, hypoplasia or aplasia of, with polydactyly		106
HP:0005736	HP:0005736	Short tibia	0	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:0005736	HP:0005736	Short tibia	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional	101
HP:0005736	HP:0005736	Short tibia	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0005736	HP:0005736	Short tibia	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0005736	HP:0005736	Short tibia	0	SHH CL E G H	6469	10848	ORPHA:93405	Syndactyly type 4	HP:0040282 - Frequent	67
HP:0005736	HP:0005736	Short tibia	0	SHOX CL E G H	6473	10853	OMIM:249700	Langer mesomelic dysplasia	.	66
HP:0005736	HP:0005736	Short tibia	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0005736	HP:0005736	Short tibia	0	SHOX CL E G H	6473	10853	OMIM:127300	Leri-Weill dyschondrosteosis		66
HP:0005736	HP:0005736	Short tibia	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0005736	HP:0005736	Short tibia	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040282 - Frequent	15
HP:0005736	HP:0005736	Short tibia	0	TCTN3 CL E G H	26123	24519	OMIM:258860	Orofaciodigital syndrome IV	.	31
HP:0005736	HP:0006379	Proximal tibial hypoplasia	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0005736	HP:0005766	Disproportionate shortening of the tibia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.	101

Genes (23) :ALG12 BMPR1B DLK1 DONSON EIF4A3 FLNB GDF5 GLI3 GPC6 HYLS1 IHH INTU LAMA5 LIFR LMBR1 MEG3 NEK1 RTL1 SHH SHOX SLC35A2 SMOC1 TCTN3

Diseases (26) :OMIM:607143 ORPHA:2098 ORPHA:96334 OMIM:251230 OMIM:268305 ORPHA:56305 OMIM:201250 OMIM:200700 ORPHA:93322 OMIM:258315 OMIM:236680 OMIM:607778 OMIM:617925 OMIM:620076 OMIM:601559 OMIM:200500 ORPHA:93405 OMIM:188740 ORPHA:2751 OMIM:263520 OMIM:249700 ORPHA:240 OMIM:127300 ORPHA:356961 ORPHA:1106 OMIM:258860

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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