Human Phenotype Ontology 
Grandparent Node:
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Abnormal femoral neck/head morphology (HP:0003366)help
Grandparent Node:
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Aplasia/Hypoplasia involving the pelvis (HP:0009103)help
Grandparent Node:
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Aplasia/hypoplasia of the femur (HP:0005613)help
Parent Node:
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Abnormal femoral neck morphology (HP:0003367)help
Parent Node:
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Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)help
..Starting node
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Short femoral neck (HP:0100864)help
Term ID: 100864
Name: Short femoral neck
Synonym: Hypoplasia of the femoral neck; Hypoplastic femoral neck; Short femoral necks; Short neck of thighbone
Definition: An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Comments:
Reference: HP:0100864
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia of the femoral head (HP:0100862) help
..expandAplasia of the femoral neck (HP:0100863) help
..expandHypoplasia of the femoral head (HP:0008802) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100864HP:0100864Short femoral neck0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0100864HP:0100864Short femoral neck0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0100864HP:0100864Short femoral neck0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0100864HP:0100864Short femoral neck0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0100864HP:0100864Short femoral neck0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0100864HP:0100864Short femoral neck0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040283 - Occasional
HP:0100864HP:0100864Short femoral neck0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0100864HP:0100864Short femoral neck0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0100864HP:0100864Short femoral neck0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0100864HP:0100864Short femoral neck0COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type.284
HP:0100864HP:0100864Short femoral neck0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040282 - Frequent284
HP:0100864HP:0100864Short femoral neck0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0100864HP:0100864Short femoral neck0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.284
HP:0100864HP:0100864Short femoral neck0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0100864HP:0100864Short femoral neck0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0100864HP:0100864Short femoral neck0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040283 - Occasional89
HP:0100864HP:0100864Short femoral neck0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0100864HP:0100864Short femoral neck0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0100864HP:0100864Short femoral neck0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0100864HP:0100864Short femoral neck0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0100864HP:0100864Short femoral neck0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0100864HP:0100864Short femoral neck0FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.9
HP:0100864HP:0100864Short femoral neck0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0100864HP:0100864Short femoral neck0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0100864HP:0100864Short femoral neck0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0100864HP:0100864Short femoral neck0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0100864HP:0100864Short femoral neck0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0100864HP:0100864Short femoral neck0MMP9 CL E G H43187176OMIM:613073METAPHYSEAL ANADYSPLASIA 2; MANDP231
HP:0100864HP:0100864Short femoral neck0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0100864HP:0100864Short femoral neck0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0100864HP:0100864Short femoral neck0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0100864HP:0100864Short femoral neck0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0100864HP:0100864Short femoral neck0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0100864HP:0100864Short femoral neck0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0100864HP:0100864Short femoral neck0PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0100864HP:0100864Short femoral neck0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0100864HP:0100864Short femoral neck0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0100864HP:0100864Short femoral neck0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0100864HP:0100864Short femoral neck0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0100864HP:0100864Short femoral neck0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0100864HP:0100864Short femoral neck0SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasiaHP:0040281 - Very frequent66
HP:0100864HP:0100864Short femoral neck0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0100864HP:0100864Short femoral neck0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0100864HP:0100864Short femoral neck0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0100864HP:0100864Short femoral neck0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0100864HP:0100864Short femoral neck0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent24
HP:0100864HP:0100864Short femoral neck0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0100864HP:0100864Short femoral neck0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040282 - Frequent
HP:0100864HP:0100864Short femoral neck0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040283 - Occasional46
HP:0100864HP:0100864Short femoral neck0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0100864HP:0100864Short femoral neck0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0100864HP:0100864Short femoral neck0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0100864HP:0100864Short femoral neck0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14


Genes (42) :AIFM1 B3GALT6 BMPR1B CANT1 CCN6 CFAP410 CHD4 CHST3 COL2A1 COMP CTC1 DDRGK1 DLK1 EXOC6B FGFR3 FN1 IFT140 IHH LBR MATN3 MEG3 MMP9 MTX2 NANS PEX5 PIK3C2A POC1A POP1 PRG4 RAD21 RSPRY1 RTL1 RUNX2 SHOX SLC10A7 SLC26A2 SLC39A13 TMEM67 TONSL TRAPPC2 TRPV4 XYLT1

Diseases (50) :OMIM:300232 OMIM:271640 OMIM:609441 OMIM:251450 OMIM:617719 ORPHA:1159 OMIM:602271 OMIM:617159 OMIM:143095 OMIM:609162 ORPHA:166011 ORPHA:94068 OMIM:184255 ORPHA:93316 OMIM:132400 ORPHA:750 OMIM:612199 OMIM:602557 ORPHA:96334 OMIM:618395 OMIM:100800 OMIM:266920 OMIM:607778 OMIM:618019 OMIM:607078 OMIM:613073 OMIM:619127 OMIM:610442 OMIM:616716 OMIM:618440 OMIM:614813 OMIM:617396 ORPHA:2848 OMIM:614701 ORPHA:457395 OMIM:616723 OMIM:119600 ORPHA:2632 OMIM:249700 OMIM:618363 ORPHA:93307 OMIM:612350 ORPHA:157965 OMIM:602152 ORPHA:93357 ORPHA:93284 OMIM:313400 OMIM:113500 ORPHA:93314 ORPHA:370930
 

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