Human Phenotype Ontology 
Grandparent Node:
expandAbnormal lower limb bone morphology (HP:0040069)help
Grandparent Node:
expandAplasia/hypoplasia involving bones of the extremities (HP:0045060)help
Parent Node:
expandAbnormality of femur morphology (HP:0002823)help
Parent Node:
expandAplasia/hypoplasia involving bones of the lower limbs (HP:0006493)help
..Starting node
..expandAplasia/hypoplasia of the femur (HP:0005613)help
Term ID: 5613
Name: Aplasia/hypoplasia of the femur
Synonym: Absent/small thighbone; Absent/underdeveloped thighbone; Hypoplastic to absent femora; Hypoplastic/aplastic femora
Definition: Absence or underdevelopment of the femur.
Comments:
Reference: HP:0005613
Genes and Diseases:
 
       Child Nodes:
........expandShort femur (HP:0003097) help
........expandAplasia/Hypoplasia involving the femoral head and neck (HP:0009108) help
................... HP:0008802 Hypoplasia of the femoral head
................... HP:0100862 Aplasia of the femoral head
................... HP:0100863 Aplasia of the femoral neck
................... HP:0100864 Short femoral neck
........expandFemoral aplasia (HP:0012744) help
........expandProximal femoral focal deficiency (HP:0030772) help

 Sister Nodes: 
..expandAcromelia of the lower limbs (HP:0010494) help
..expandAmelia involving the lower limbs (HP:0009818) help
..expandAplasia involving bones of the lower limbs (HP:0009817) help
..expandAplasia/Hypoplasia involving bones of the feet (HP:0006494) help
..expandAplasia/Hypoplasia of the fibula (HP:0006492) help
..expandAplasia/Hypoplasia of the patella (HP:0006498) help
..expandAplasia/Hypoplasia of the tibia (HP:0005772) help
..expandLower limb phocomelia (HP:0009819) help
..expandLower limb undergrowth (HP:0009816) 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:0005613HP:0005613Aplasia/hypoplasia of the femur0AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3117
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndrome4
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type284
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton type284
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type284
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type284
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type I233
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I233
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type9
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type52
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0MMP9 CL E G H43187176OMIM:613073METAPHYSEAL ANADYSPLASIA 2; MANDP231
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome138
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I15
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type2
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasia66
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia66
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4166
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduria60
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type2
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasia5
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TBX4 CL E G H949611603OMIM:147891Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension55
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome166
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset72
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 96
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked46
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3214
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0WNT7A CL E G H747612786OMIM:228930Fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly13
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0WNT7A CL E G H747612786OMIM:276820Ulna and fibula, absence of, with severe limb deficiency13
HP:0005613HP:0005613Aplasia/hypoplasia of the femur0XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0005613HP:0030772Proximal femoral focal deficiency1 CL E G H
HP:0005613HP:0012744Femoral aplasia1 CL E G H
HP:0005613HP:0003097Short femur1AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3.117
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0005613HP:0003097Short femur1ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0005613HP:0003097Short femur1AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis2
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0005613HP:0003097Short femur1BHLHA9 CL E G H72785735126ORPHA:3329Tibial aplasia-ectrodactyly syndromeHP:0040283 - Occasional4
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0005613HP:0003097Short femur1CAMK2A CL E G H8151460OMIM:617798Mental retardation, autosomal dominant 531
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0005613HP:0003097Short femur1COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040282 - Frequent215
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type284
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton type284
HP:0005613HP:0003097Short femur1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenita284
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type284
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type284
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0005613HP:0003097Short femur1CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts160
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0005613HP:0003097Short femur1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0005613HP:0003097Short femur1FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0005613HP:0003097Short femur1FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0005613HP:0003097Short femur1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type9
HP:0005613HP:0003097Short femur1GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1IDUA CL E G H34255391OMIM:607014Hurler syndrome115
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0005613HP:0003097Short femur1IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1MMP9 CL E G H43187176OMIM:613073METAPHYSEAL ANADYSPLASIA 2; MANDP231
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0005613HP:0003097Short femur1POLR3A CL E G H1112830074OMIM:264090Wiedemann-Rautenstrauch syndrome.138
HP:0005613HP:0003097Short femur1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0005613HP:0003097Short femur1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0005613HP:0003097Short femur1RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type2
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0005613HP:0003097Short femur1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia66
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasia66
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0005613HP:0003097Short femur1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4166
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0005613HP:0003097Short femur1SUCLG1 CL E G H880211449ORPHA:17Fatal infantile lactic acidosis with methylmalonic aciduriaHP:0040284 - Very rare60
HP:0005613HP:0003097Short femur1TAPT1 CL E G H20201826887OMIM:616897Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type.2
HP:0005613HP:0003097Short femur1TBX15 CL E G H691311594ORPHA:93333Pelviscapular dysplasiaHP:0040280 - Obligate5
HP:0005613HP:0003097Short femur1TBX4 CL E G H949611603OMIM:147891Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension.55
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome166
HP:0005613HP:0003097Short femur1TNFRSF11A CL E G H879211908OMIM:602080Paget disease of bone 2, early-onset72
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasia
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 96
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked46
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3214
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0005613HP:0009108Aplasia/Hypoplasia involving the femoral head and neck1XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDG14
HP:0005613HP:0100863Aplasia of the femoral neck2 CL E G H
HP:0005613HP:0100862Aplasia of the femoral head2 CL E G H
HP:0005613HP:0100864Short femoral neck2AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0005613HP:0100864Short femoral neck2B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0005613HP:0100864Short femoral neck2BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0005613HP:0100864Short femoral neck2CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0005613HP:0100864Short femoral neck2CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0005613HP:0100864Short femoral neck2CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040283 - Occasional
HP:0005613HP:0100864Short femoral neck2CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0005613HP:0100864Short femoral neck2CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome.14
HP:0005613HP:0100864Short femoral neck2CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0005613HP:0100864Short femoral neck2COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type.284
HP:0005613HP:0100864Short femoral neck2COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040282 - Frequent284
HP:0005613HP:0100864Short femoral neck2COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040283 - Occasional284
HP:0005613HP:0100864Short femoral neck2COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.284
HP:0005613HP:0100864Short femoral neck2COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040283 - Occasional284
HP:0005613HP:0100864Short femoral neck2COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0005613HP:0100864Short femoral neck2COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040283 - Occasional89
HP:0005613HP:0100864Short femoral neck2CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0005613HP:0100864Short femoral neck2DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0005613HP:0100864Short femoral neck2DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005613HP:0100864Short femoral neck2EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0005613HP:0100864Short femoral neck2FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0005613HP:0100864Short femoral neck2FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.9
HP:0005613HP:0008802Hypoplasia of the femoral head2IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0005613HP:0008802Hypoplasia of the femoral head2IFNGR1 CL E G H34595439OMIM:209950Immunodeficiency 27A, mycobacteriosis, AR60
HP:0005613HP:0100864Short femoral neck2IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly.148
HP:0005613HP:0100864Short femoral neck2IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0005613HP:0100864Short femoral neck2LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0005613HP:0100864Short femoral neck2MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0005613HP:0100864Short femoral neck2MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0005613HP:0100864Short femoral neck2MMP9 CL E G H43187176OMIM:613073METAPHYSEAL ANADYSPLASIA 2; MANDP231
HP:0005613HP:0100864Short femoral neck2MTX2 CL E G H106517506OMIM:619127MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0005613HP:0100864Short femoral neck2NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0005613HP:0100864Short femoral neck2PEX5 CL E G H58309719OMIM:616716RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5; RCDP599
HP:0005613HP:0100864Short femoral neck2PIK3C2A CL E G H52868971OMIM:618440Oculoskeletodental syndrome.
HP:0005613HP:0100864Short femoral neck2POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0005613HP:0008802Hypoplasia of the femoral head2POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0005613HP:0100864Short femoral neck2POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0005613HP:0100864Short femoral neck2PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0005613HP:0100864Short femoral neck2RAD21 CL E G H58859811OMIM:614701Cornelia de Lange syndrome 425
HP:0005613HP:0100864Short femoral neck2RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0005613HP:0100864Short femoral neck2RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0005613HP:0100864Short femoral neck2RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0005613HP:0100864Short femoral neck2RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0005613HP:0100864Short femoral neck2SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasiaHP:0040281 - Very frequent66
HP:0005613HP:0100864Short femoral neck2SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0005613HP:0100864Short femoral neck2SLC10A7 CL E G H8406823088OMIM:618363Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
HP:0005613HP:0008802Hypoplasia of the femoral head2SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0005613HP:0100864Short femoral neck2SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0005613HP:0100864Short femoral neck2SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0005613HP:0100864Short femoral neck2SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent24
HP:0005613HP:0100864Short femoral neck2TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0005613HP:0100864Short femoral neck2TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040282 - Frequent
HP:0005613HP:0008802Hypoplasia of the femoral head2TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 9HP:0040283 - Occasional6
HP:0005613HP:0100864Short femoral neck2TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040283 - Occasional46
HP:0005613HP:0100864Short femoral neck2TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0005613HP:0100864Short femoral neck2TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0005613HP:0100864Short femoral neck2TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040283 - Occasional214
HP:0005613HP:0100864Short femoral neck2XYLT1 CL E G H6413115516ORPHA:370930XYLT1-CDGHP:0040282 - Frequent14


Genes (64) :AGPS AIFM1 ALG12 AMMECR1 B3GALT6 BHLHA9 BMPR1B CAMK2A CANT1 CCN6 CFAP410 CHD4 CHST3 COL11A1 COL2A1 COMP CPLANE1 CTC1 DDRGK1 DLK1 EXOC6B FGFR3 FLNB FN1 GDF5 IDUA IFNGR1 IFT140 IHH LBR MATN3 MEG3 MMP9 MTX2 NANS PEX5 PIK3C2A POC1A POLR3A POP1 PRG4 PUF60 RAD21 RNU4ATAC RSPRY1 RTL1 RUNX2 SALL4 SHOX SLC10A7 SLC26A2 SLC39A13 SUCLG1 TAPT1 TBX15 TBX4 TMEM67 TNFRSF11A TONSL TRAF3IP1 TRAPPC2 TRPV4 WNT7A XYLT1

Diseases (79) :OMIM:600121 OMIM:300232 OMIM:607143 OMIM:300990 OMIM:271640 ORPHA:3329 OMIM:609441 OMIM:617798 OMIM:251450 OMIM:617719 ORPHA:1159 OMIM:602271 OMIM:617159 OMIM:143095 ORPHA:440354 OMIM:609162 ORPHA:166011 ORPHA:94068 OMIM:184255 ORPHA:93316 OMIM:132400 ORPHA:750 OMIM:277170 OMIM:612199 OMIM:602557 ORPHA:96334 OMIM:618395 OMIM:100800 ORPHA:1860 ORPHA:1190 OMIM:108720 OMIM:200700 OMIM:607014 OMIM:209950 OMIM:266920 OMIM:607778 OMIM:618019 OMIM:607078 OMIM:613073 OMIM:619127 OMIM:610442 OMIM:616716 OMIM:618440 OMIM:614813 ORPHA:3455 OMIM:264090 OMIM:617396 ORPHA:2848 ORPHA:508488 OMIM:614701 ORPHA:2636 OMIM:210710 ORPHA:457395 OMIM:616723 OMIM:119600 OMIM:147750 ORPHA:2632 OMIM:249700 OMIM:618363 ORPHA:56304 OMIM:226900 ORPHA:93307 OMIM:612350 ORPHA:157965 ORPHA:17 OMIM:616897 ORPHA:93333 OMIM:147891 OMIM:602152 OMIM:602080 ORPHA:93357 OMIM:616629 ORPHA:93284 OMIM:313400 OMIM:113500 ORPHA:93314 OMIM:228930 OMIM:276820 ORPHA:370930
 

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