Human Phenotype Ontology 
Grandparent Node:
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Abnormality of long bone morphology (HP:0011314)help
Parent Node:
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Aplasia/Hypoplasia of the tibia (HP:0005772)help
Parent Node:
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Short long bone (HP:0003026)help
..Starting node
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Short tibia (HP:0005736)help
Term ID: 5736
Name: Short tibia
Synonym: Hypoplasia of the tibia; Hypoplastic tibia; Short shinbone; Short skankbone; Short tibiae
Definition: Underdevelopment (reduced size) of the tibia.
Comments:
Reference: HP:0005736
Genes and Diseases:
 
       Child Nodes:
........expandDisproportionate shortening of the tibia (HP:0005766) help
........expandProximal tibial hypoplasia (HP:0006379) help
........expandShortening of the tibia (HP:0006436) help

 Sister Nodes: 
..expandFibular hypoplasia (HP:0003038) help
..expandForearm undergrowth (HP:0009821) help
..expandShort femur (HP:0003097) help
..expandShort humerus (HP:0005792) help
..expandShort metatarsal (HP:0010743) help
..expandShort tubular bones of the hand (HP:0001248) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0005736HP:0005736Short tibia0ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0005736HP:0005736Short tibia0BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA1241951077603248
HP:0005736HP:0005736Short tibia0DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0005736HP:0005736Short tibia0GDF5 CL E G H8200201250Acromesomelic dysplasia Hunter Thompson type201250C2930970OMIM159984220601146
HP:0005736HP:0005736Short tibia0GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA159984220601146
HP:0005736HP:0005736Short tibia0GDF5 CL E G H8200200700Grebe syndrome200700C0265260OMIM159984220601146
HP:0005736HP:0005736Short tibia0GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM192484454604404
HP:0005736HP:0005736Short tibia0IHH CL E G H3549607778Acrocapitofemoral dysplasia607778C1843096OMIM1331155956600726
HP:0005736HP:0005736Short tibia0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0005736HP:0005736Short tibia0LMBR1 CL E G H6432793405ORPHA11124013243605522
HP:0005736HP:0005736Short tibia0LMBR1 CL E G H643273332ORPHA11124013243605522
HP:0005736HP:0005736Short tibia0LMBR1 CL E G H64327200500Acheiropodia200500C0265559OMIM11124013243605522
HP:0005736HP:0005736Short tibia0SHH CL E G H646993405ORPHA122121010848600725
HP:0005736HP:0005736Short tibia0SHH CL E G H64693332ORPHA122121010848600725
HP:0005736HP:0005736Short tibia0SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM143322510853312865
HP:0005736HP:0005736Short tibia0SHOX CL E G H6473240Say Carpenter syndromeORPHA143322510853312865
HP:0005736HP:0005736Short tibia0SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0005736HP:0005736Short tibia0TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0005736HP:0005736Short tibia0ZBTB16 CL E G H7704612447Skeletal defects, genital hypoplasia, and mental retardation612447C2676231OMIM123212930176797
HP:0005736HP:0005736Short tibia1ALG12 CL E G H79087607143ALG12-congenital disorder of glycosylation607143C2931001OMIM11626319358607144
HP:0005736HP:0005736Short tibia1BMPR1B CL E G H6582098Ellis Yale Winter syndromeORPHA1241951077603248
HP:0005736HP:0005736Short tibia1DONSON CL E G H29980251230Microcephaly-micromelia syndrome251230C1855079OMIM121762993611428
HP:0005736HP:0005736Short tibia1GDF5 CL E G H8200201250Acromesomelic dysplasia Hunter Thompson type201250C2930970OMIM159984220601146
HP:0005736HP:0005736Short tibia1GDF5 CL E G H82002098Ellis Yale Winter syndromeORPHA159984220601146
HP:0005736HP:0005736Short tibia1GDF5 CL E G H8200200700Grebe syndrome200700C0265260OMIM159984220601146
HP:0005736HP:0005736Short tibia1GPC6 CL E G H10082258315Omodysplasia 1258315C1850318OMIM192484454604404
HP:0005736HP:0005736Short tibia1IHH CL E G H3549607778Acrocapitofemoral dysplasia607778C1843096OMIM1331155956600726
HP:0005736HP:0005736Short tibia1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM1323466597151443
HP:0005736HP:0005736Short tibia1LMBR1 CL E G H6432793405ORPHA11124013243605522
HP:0005736HP:0005736Short tibia1LMBR1 CL E G H643273332ORPHA11124013243605522
HP:0005736HP:0005736Short tibia1LMBR1 CL E G H64327200500Acheiropodia200500C0265559OMIM11124013243605522
HP:0005736HP:0005736Short tibia1SHH CL E G H64693332ORPHA122121010848600725
HP:0005736HP:0005736Short tibia1SHH CL E G H646993405ORPHA122121010848600725
HP:0005736HP:0005736Short tibia1SHOX CL E G H6473127300Leri Weill dyschondrosteosis127300C0265309OMIM143322510853312865
HP:0005736HP:0005736Short tibia1SHOX CL E G H6473240Say Carpenter syndromeORPHA143322510853312865
HP:0005736HP:0005736Short tibia1SMOC1 CL E G H640931106ORPHA1155420318608488
HP:0005736HP:0005736Short tibia1TCTN3 CL E G H26123258860Orofacial-digital syndrome IV258860C0406727OMIM1129524519613847
HP:0005736HP:0005736Short tibia1ZBTB16 CL E G H7704612447Skeletal defects, genital hypoplasia, and mental retardation612447C2676231OMIM123212930176797
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005736HP:0005736Short tibia0EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM023418683608546
HP:0005736HP:0005736Short tibia0FLNB CL E G H231756305ORPHA01225203755603381
HP:0005736HP:0005736Short tibia0INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM0123229239610621
HP:0005736HP:0005736Short tibia1EIF4A3 CL E G H9775268305Richieri Costa Pereira syndrome268305C1849348OMIM023418683608546
HP:0005736HP:0005736Short tibia1FLNB CL E G H231756305ORPHA01225203755603381
HP:0005736HP:0005736Short tibia1INTU CL E G H27152617925SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY617925CN902090OMIM0123229239610621


Genes (18) :ALG12 BMPR1B DONSON EIF4A3 FLNB GDF5 GPC6 HYLS1 IHH INTU LIFR LMBR1 NEK1 SHH SHOX SMOC1 TCTN3 ZBTB16

Diseases (23) :607143 2098 251230 268305 56305 201250 200700 258315 607778 617925 601559 93405 3332 200500 127300 240 1106 258860 612447 236680 2751 263520 249700
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.