Human Phenotype Ontology 
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Short stature (HP:0004322)help
Parent Node:
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Disproportionate short stature (HP:0003498)help
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Disproportionate short-limb short stature (HP:0008873)help
Term ID: 8873
Name: Disproportionate short-limb short stature
Synonym: Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism
Definition: A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Comments:
Reference: HP:0008873
Genes and Diseases:
 
       Child Nodes:
........expandMesomelic short stature (HP:0008845) help
........expandSevere short-limb dwarfism (HP:0008890) help
........expandRhizomelia (HP:0008905) help
................... HP:0004991 Rhizomelic arm shortening
................... HP:0005026 Mesomelic/rhizomelic limb shortening
................... HP:0005069 Rhizo-meso-acromelic limb shortening
................... HP:0012106 Rhizomelic leg shortening
........expandLethal short-limbed short stature (HP:0008909) help
........expandNeonatal short-limb short stature (HP:0008921) help
........expandChildhood onset short-limb short stature (HP:0011405) help

 Sister Nodes: 
..expandDisproportionate short-trunk short stature (HP:0003521) 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:0008873HP:0008873Disproportionate short-limb short stature0ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type34
HP:0008873HP:0008873Disproportionate short-limb short stature0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0008873HP:0008873Disproportionate short-limb short stature0AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3.117
HP:0008873HP:0008873Disproportionate short-limb short stature0ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig68
HP:0008873HP:0008873Disproportionate short-limb short stature0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDG93
HP:0008873HP:0008873Disproportionate short-limb short stature0ALPL CL E G H249438OMIM:241500Hypophosphatasia, infantile.126
HP:0008873HP:0008873Disproportionate short-limb short stature0ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay3
HP:0008873HP:0008873Disproportionate short-limb short stature0ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0008873HP:0008873Disproportionate short-limb short stature0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0008873HP:0008873Disproportionate short-limb short stature0B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040281 - Very frequent36
HP:0008873HP:0008873Disproportionate short-limb short stature0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0008873HP:0008873Disproportionate short-limb short stature0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0008873HP:0008873Disproportionate short-limb short stature0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent90
HP:0008873HP:0008873Disproportionate short-limb short stature0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0008873HP:0008873Disproportionate short-limb short stature0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0008873HP:0008873Disproportionate short-limb short stature0CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly7
HP:0008873HP:0008873Disproportionate short-limb short stature0CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0008873HP:0008873Disproportionate short-limb short stature0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0008873HP:0008873Disproportionate short-limb short stature0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasia165
HP:0008873HP:0008873Disproportionate short-limb short stature0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0008873HP:0008873Disproportionate short-limb short stature0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0008873HP:0008873Disproportionate short-limb short stature0CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0008873HP:0008873Disproportionate short-limb short stature0COG1 CL E G H93826545ORPHA:263508COG1-CDG52
HP:0008873HP:0008873Disproportionate short-limb short stature0COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0008873HP:0008873Disproportionate short-limb short stature0COL10A1 CL E G H13002185ORPHA:174Metaphyseal chondrodysplasia, Schmid typeHP:0040282 - Frequent79
HP:0008873HP:0008873Disproportionate short-limb short stature0COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome215
HP:0008873HP:0008873Disproportionate short-limb short stature0COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1215
HP:0008873HP:0008873Disproportionate short-limb short stature0COL1A1 CL E G H12772197OMIM:166210Osteogenesis imperfecta, type IIA.373
HP:0008873HP:0008873Disproportionate short-limb short stature0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0008873HP:0008873Disproportionate short-limb short stature0COL1A2 CL E G H12782198OMIM:166210Osteogenesis imperfecta, type IIA.243
HP:0008873HP:0008873Disproportionate short-limb short stature0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0008873HP:0008873Disproportionate short-limb short stature0COL2A1 CL E G H12802200OMIM:200610Achondrogenesis, type II.284
HP:0008873HP:0008873Disproportionate short-limb short stature0COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0008873HP:0008873Disproportionate short-limb short stature0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0008873HP:0008873Disproportionate short-limb short stature0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0008873HP:0008873Disproportionate short-limb short stature0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0008873HP:0008873Disproportionate short-limb short stature0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0008873HP:0008873Disproportionate short-limb short stature0COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040281 - Very frequent89
HP:0008873HP:0008873Disproportionate short-limb short stature0CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI4
HP:0008873HP:0008873Disproportionate short-limb short stature0CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII124
HP:0008873HP:0008873Disproportionate short-limb short stature0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0008873HP:0008873Disproportionate short-limb short stature0CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0008873HP:0008873Disproportionate short-limb short stature0CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0008873HP:0008873Disproportionate short-limb short stature0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0008873HP:0008873Disproportionate short-limb short stature0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0008873HP:0008873Disproportionate short-limb short stature0DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0008873HP:0008873Disproportionate short-limb short stature0DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndrome159
HP:0008873HP:0008873Disproportionate short-limb short stature0DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0008873HP:0008873Disproportionate short-limb short stature0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0008873HP:0008873Disproportionate short-limb short stature0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0008873HP:0008873Disproportionate short-limb short stature0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0008873HP:0008873Disproportionate short-limb short stature0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0008873HP:0008873Disproportionate short-limb short stature0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0008873HP:0008873Disproportionate short-limb short stature0DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndrome7
HP:0008873HP:0008873Disproportionate short-limb short stature0EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0008873HP:0008873Disproportionate short-limb short stature0EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndrome209
HP:0008873HP:0008873Disproportionate short-limb short stature0EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0008873HP:0008873Disproportionate short-limb short stature0EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndrome137
HP:0008873HP:0008873Disproportionate short-limb short stature0EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia172
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasia172
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690ORPHA:15Achondroplasia145
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA145
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690ORPHA:429Hypochondroplasia145
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA145
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1145
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I145
HP:0008873HP:0008873Disproportionate short-limb short stature0FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II145
HP:0008873HP:0008873Disproportionate short-limb short stature0FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type I233
HP:0008873HP:0008873Disproportionate short-limb short stature0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0008873HP:0008873Disproportionate short-limb short stature0FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III233
HP:0008873HP:0008873Disproportionate short-limb short stature0FLNB CL E G H23173755ORPHA:1263Boomerang dysplasia233
HP:0008873HP:0008873Disproportionate short-limb short stature0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0008873HP:0008873Disproportionate short-limb short stature0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0008873HP:0008873Disproportionate short-limb short stature0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent52
HP:0008873HP:0008873Disproportionate short-limb short stature0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type52
HP:0008873HP:0008873Disproportionate short-limb short stature0GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson type52
HP:0008873HP:0008873Disproportionate short-limb short stature0GDF5 CL E G H82004220OMIM:200700Chondrodysplasia, Grebe type.52
HP:0008873HP:0008873Disproportionate short-limb short stature0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0008873HP:0008873Disproportionate short-limb short stature0GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndrome1
HP:0008873HP:0008873Disproportionate short-limb short stature0GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 258
HP:0008873HP:0008873Disproportionate short-limb short stature0GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasia99
HP:0008873HP:0008873Disproportionate short-limb short stature0GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0008873HP:0008873Disproportionate short-limb short stature0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0008873HP:0008873Disproportionate short-limb short stature0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0008873HP:0008873Disproportionate short-limb short stature0GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities3
HP:0008873HP:0008873Disproportionate short-limb short stature0HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia2
HP:0008873HP:0008873Disproportionate short-limb short stature0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0008873HP:0008873Disproportionate short-limb short stature0HS2ST1 CL E G H96535193OMIM:619194NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0008873HP:0008873Disproportionate short-limb short stature0HSPG2 CL E G H33395273OMIM:224410Dyssegmental dysplasia, Silverman-Handmaker type.345
HP:0008873HP:0008873Disproportionate short-limb short stature0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0008873HP:0008873Disproportionate short-limb short stature0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia93
HP:0008873HP:0008873Disproportionate short-limb short stature0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008873HP:0008873Disproportionate short-limb short stature0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0008873HP:0008873Disproportionate short-limb short stature0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0008873HP:0008873Disproportionate short-limb short stature0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 265
HP:0008873HP:0008873Disproportionate short-limb short stature0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0008873HP:0008873Disproportionate short-limb short stature0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia.44
HP:0008873HP:0008873Disproportionate short-limb short stature0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0008873HP:0008873Disproportionate short-limb short stature0INPPL1 CL E G H36366080ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent18
HP:0008873HP:0008873Disproportionate short-limb short stature0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0008873HP:0008873Disproportionate short-limb short stature0KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0008873HP:0008873Disproportionate short-limb short stature0KIAA0753 CL E G H985129110OMIM:619479SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD214
HP:0008873HP:0008873Disproportionate short-limb short stature0KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndrome91
HP:0008873HP:0008873Disproportionate short-limb short stature0KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 25
HP:0008873HP:0008873Disproportionate short-limb short stature0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0008873HP:0008873Disproportionate short-limb short stature0LBR CL E G H39306518ORPHA:1426Greenberg dysplasia70
HP:0008873HP:0008873Disproportionate short-limb short stature0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0008873HP:0008873Disproportionate short-limb short stature0MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndrome5
HP:0008873HP:0008873Disproportionate short-limb short stature0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0008873HP:0008873Disproportionate short-limb short stature0MATN3 CL E G H41486909ORPHA:156728Spondyloepimetaphyseal dysplasia, matrilin-3 typeHP:0040282 - Frequent32
HP:0008873HP:0008873Disproportionate short-limb short stature0MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX22
HP:0008873HP:0008873Disproportionate short-limb short stature0MESD CL E G H2318413520OMIM:618644OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0008873HP:0008873Disproportionate short-limb short stature0MIR140 CL E G H40693231527OMIM:618618SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0008873HP:0008873Disproportionate short-limb short stature0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type52
HP:0008873HP:0008873Disproportionate short-limb short stature0MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome68
HP:0008873HP:0008873Disproportionate short-limb short stature0MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4
HP:0008873HP:0008873Disproportionate short-limb short stature0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0008873HP:0008873Disproportionate short-limb short stature0NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome2
HP:0008873HP:0008873Disproportionate short-limb short stature0NXN CL E G H6435918008ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent2
HP:0008873HP:0008873Disproportionate short-limb short stature0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43
HP:0008873HP:0008873Disproportionate short-limb short stature0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy11
HP:0008873HP:0008873Disproportionate short-limb short stature0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0008873HP:0008873Disproportionate short-limb short stature0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 172
HP:0008873HP:0008873Disproportionate short-limb short stature0PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0008873HP:0008873Disproportionate short-limb short stature0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0008873HP:0008873Disproportionate short-limb short stature0PPIB CL E G H54799255OMIM:259440Osteogenesis imperfecta, type IX.39
HP:0008873HP:0008873Disproportionate short-limb short stature0PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndrome2
HP:0008873HP:0008873Disproportionate short-limb short stature0PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndrome2
HP:0008873HP:0008873Disproportionate short-limb short stature0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0008873HP:0008873Disproportionate short-limb short stature0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0008873HP:0008873Disproportionate short-limb short stature0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0008873HP:0008873Disproportionate short-limb short stature0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasia58
HP:0008873HP:0008873Disproportionate short-limb short stature0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0008873HP:0008873Disproportionate short-limb short stature0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0008873HP:0008873Disproportionate short-limb short stature0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0008873HP:0008873Disproportionate short-limb short stature0ROR2 CL E G H492010257ORPHA:1507Autosomal recessive Robinow syndromeHP:0040281 - Very frequent120
HP:0008873HP:0008873Disproportionate short-limb short stature0SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasiaHP:0040281 - Very frequent66
HP:0008873HP:0008873Disproportionate short-limb short stature0SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia66
HP:0008873HP:0008873Disproportionate short-limb short stature0SHOX CL E G H647310853ORPHA:240Léri-Weill dyschondrosteosisHP:0040281 - Very frequent66
HP:0008873HP:0008873Disproportionate short-limb short stature0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0008873HP:0008873Disproportionate short-limb short stature0SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB166
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type II166
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasia166
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC35D1 CL E G H2316920800ORPHA:3144Schneckenbecken dysplasiaHP:0040281 - Very frequent9
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC35D1 CL E G H2316920800OMIM:269250Schneckenbecken dysplasia.9
HP:0008873HP:0008873Disproportionate short-limb short stature0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0008873HP:0008873Disproportionate short-limb short stature0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.HP:0003577 - Congenital onset109
HP:0008873HP:0008873Disproportionate short-limb short stature0TBX15 CL E G H691311594OMIM:260660Cousin syndrome5
HP:0008873HP:0008873Disproportionate short-limb short stature0TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040281 - Very frequent
HP:0008873HP:0008873Disproportionate short-limb short stature0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0008873HP:0008873Disproportionate short-limb short stature0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0008873HP:0008873Disproportionate short-limb short stature0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0008873HP:0008873Disproportionate short-limb short stature0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0008873HP:0008873Disproportionate short-limb short stature0WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly95
HP:0008873HP:0008873Disproportionate short-limb short stature0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0008873HP:0008873Disproportionate short-limb short stature0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0008873HP:0008873Disproportionate short-limb short stature0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent136
HP:0008873HP:0008873Disproportionate short-limb short stature0WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0008873HP:0008873Disproportionate short-limb short stature0XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndrome9
HP:0008873HP:0008873Disproportionate short-limb short stature0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0008873HP:0008873Disproportionate short-limb short stature0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14
HP:0008873HP:0008905Rhizomelia1ACAN CL E G H176319ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan typeHP:0040281 - Very frequent34
HP:0008873HP:0008905Rhizomelia1ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0008873HP:0008905Rhizomelia1AGPS CL E G H8540327OMIM:600121Rhizomelic chondrodysplasia punctata, type 3.117
HP:0008873HP:0008905Rhizomelia1ALG12 CL E G H7908719358OMIM:607143Congenital disorder of glycosylation, type Ig.68
HP:0008873HP:0008905Rhizomelia1ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0008873HP:0008905Rhizomelia1ARCN1 CL E G H372649OMIM:617164Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay.3
HP:0008873HP:0008905Rhizomelia1ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome145
HP:0008873HP:0008905Rhizomelia1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0008873HP:0008905Rhizomelia1B3GLCT CL E G H14517320207ORPHA:709Peters plus syndromeHP:0040283 - Occasional36
HP:0008873HP:0008905Rhizomelia1B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0008873HP:0008905Rhizomelia1CEP120 CL E G H15324126690OMIM:616300Short-Rib thoracic dysplasia 13 with or without polydactyly.7
HP:0008873HP:0008905Rhizomelia1CEP57 CL E G H970230794OMIM:614114Mosaic variegated aneuploidy syndrome 217
HP:0008873HP:0008905Rhizomelia1CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0008873HP:0008905Rhizomelia1CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040281 - Very frequent165
HP:0008873HP:0008905Rhizomelia1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0008873HP:0008905Rhizomelia1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0008873HP:0008905Rhizomelia1CLPB CL E G H8157030664OMIM:6162713-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia38
HP:0008873HP:0008905Rhizomelia1COG1 CL E G H93826545ORPHA:263508COG1-CDGHP:0040282 - Frequent52
HP:0008873HP:0008905Rhizomelia1COG1 CL E G H93826545OMIM:611209Congenital disorder of glycosylation, type IIg52
HP:0008873HP:0008905Rhizomelia1COL11A1 CL E G H13012186ORPHA:440354Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeHP:0040281 - Very frequent215
HP:0008873HP:0008905Rhizomelia1COL11A1 CL E G H13012186OMIM:228520Fibrochondrogenesis 1.215
HP:0008873HP:0008921Neonatal short-limb short stature1COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0008873HP:0008921Neonatal short-limb short stature1COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0008873HP:0008905Rhizomelia1COL2A1 CL E G H12802200OMIM:156550Kniest dysplasia284
HP:0008873HP:0008921Neonatal short-limb short stature1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0008873HP:0008905Rhizomelia1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0008873HP:0011405Childhood onset short-limb short stature1COMP CL E G H13112227OMIM:177170Pseudoachondroplasia.89
HP:0008873HP:0008905Rhizomelia1CREB3L1 CL E G H9099318856OMIM:616229Osteogenesis imperfecta, type XVI.4
HP:0008873HP:0008905Rhizomelia1CRTAP CL E G H104912379OMIM:610682Osteogenesis imperfecta, type VII.124
HP:0008873HP:0008905Rhizomelia1CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy57
HP:0008873HP:0008905Rhizomelia1CTSK CL E G H15132536ORPHA:763Pycnodysostosis39
HP:0008873HP:0008905Rhizomelia1DHCR24 CL E G H17182859OMIM:602398DESMOSTEROLOSIS72
HP:0008873HP:0008905Rhizomelia1DHCR7 CL E G H17172860ORPHA:818Smith-Lemli-Opitz syndromeHP:0040283 - Occasional159
HP:0008873HP:0008905Rhizomelia1DVL1 CL E G H18553084OMIM:180700Robinow syndrome, autosomal dominant 114
HP:0008873HP:0008905Rhizomelia1DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0008873HP:0008905Rhizomelia1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0008873HP:0008921Neonatal short-limb short stature1DYNC2LI1 CL E G H5162624595ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent7
HP:0008873HP:0008905Rhizomelia1EBP CL E G H106823133OMIM:302960Chondrodysplasia punctata 2, X-linked dominant51
HP:0008873HP:0008921Neonatal short-limb short stature1EVC CL E G H21213497ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent209
HP:0008873HP:0008921Neonatal short-limb short stature1EVC CL E G H21213497OMIM:225500Ellis-Van creveld syndrome.209
HP:0008873HP:0008921Neonatal short-limb short stature1EVC2 CL E G H13288419747ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent137
HP:0008873HP:0008921Neonatal short-limb short stature1EVC2 CL E G H13288419747OMIM:225500Ellis-Van creveld syndrome.137
HP:0008873HP:0008905Rhizomelia1FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0008873HP:0008905Rhizomelia1FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040282 - Frequent172
HP:0008873HP:0008905Rhizomelia1FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0008873HP:0008921Neonatal short-limb short stature1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0008873HP:0008905Rhizomelia1FGFR3 CL E G H22613690OMIM:100800ACHONDROPLASIA.145
HP:0008873HP:0008905Rhizomelia1FGFR3 CL E G H22613690ORPHA:15AchondroplasiaHP:0040283 - Occasional145
HP:0008873HP:0008905Rhizomelia1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0008873HP:0011405Childhood onset short-limb short stature1FGFR3 CL E G H22613690OMIM:146000HYPOCHONDROPLASIA.145
HP:0008873HP:0011405Childhood onset short-limb short stature1FGFR3 CL E G H22613690ORPHA:429HypochondroplasiaHP:0040281 - Very frequent145
HP:0008873HP:0008909Lethal short-limbed short stature1FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0008873HP:0008909Lethal short-limbed short stature1FGFR3 CL E G H22613690OMIM:187600Thanatophoric dysplasia, type I.145
HP:0008873HP:0008909Lethal short-limbed short stature1FGFR3 CL E G H22613690OMIM:187601Thanatophoric dysplasia, type II.145
HP:0008873HP:0008905Rhizomelia1FLNB CL E G H23173755ORPHA:1190Atelosteogenesis type IHP:0040282 - Frequent233
HP:0008873HP:0008905Rhizomelia1FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0008873HP:0008905Rhizomelia1FLNB CL E G H23173755OMIM:108721Atelosteogenesis, type III.233
HP:0008873HP:0008890Severe short-limb dwarfism1FLNB CL E G H23173755ORPHA:1263Boomerang dysplasiaHP:0040281 - Very frequent233
HP:0008873HP:0008905Rhizomelia1FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040281 - Very frequent
HP:0008873HP:0008905Rhizomelia1FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0008873HP:0008890Severe short-limb dwarfism1GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson typeHP:0040281 - Very frequent52
HP:0008873HP:0008890Severe short-limb dwarfism1GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0008873HP:0008905Rhizomelia1GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0008873HP:0008921Neonatal short-limb short stature1GLI1 CL E G H27354317ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent1
HP:0008873HP:0008905Rhizomelia1GNPAT CL E G H84434416OMIM:222765Rhizomelic chondrodysplasia punctata, type 2.58
HP:0008873HP:0008905Rhizomelia1GPC6 CL E G H100824454ORPHA:93329Autosomal recessive omodysplasiaHP:0040281 - Very frequent99
HP:0008873HP:0008905Rhizomelia1GPC6 CL E G H100824454OMIM:258315Omodysplasia 1.99
HP:0008873HP:0008905Rhizomelia1GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0008873HP:0008905Rhizomelia1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0008873HP:0008905Rhizomelia1GSC CL E G H1452584612OMIM:602471Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities.3
HP:0008873HP:0008905Rhizomelia1HDAC6 CL E G H1001314064OMIM:300863Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia.2
HP:0008873HP:0008905Rhizomelia1HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0008873HP:0008905Rhizomelia1IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0008873HP:0008905Rhizomelia1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0008873HP:0008905Rhizomelia1IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0008873HP:0008905Rhizomelia1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0008873HP:0008905Rhizomelia1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0008873HP:0008905Rhizomelia1IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0008873HP:0008905Rhizomelia1INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA.18
HP:0008873HP:0008905Rhizomelia1KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophy24
HP:0008873HP:0008905Rhizomelia1KMT2A CL E G H42977132ORPHA:319182Wiedemann-Steiner syndromeHP:0040283 - Occasional91
HP:0008873HP:0008905Rhizomelia1KYNU CL E G H89426469OMIM:617661Vertebral, cardiac, renal, and limb defects syndrome 2.5
HP:0008873HP:0008905Rhizomelia1LBR CL E G H39306518OMIM:215140Greenberg dysplasia.70
HP:0008873HP:0008890Severe short-limb dwarfism1LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040281 - Very frequent70
HP:0008873HP:0008905Rhizomelia1LBR CL E G H39306518ORPHA:1426Greenberg dysplasiaHP:0040281 - Very frequent70
HP:0008873HP:0008890Severe short-limb dwarfism1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0008873HP:0008905Rhizomelia1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0008873HP:0008905Rhizomelia1MAB21L2 CL E G H105866758OMIM:615877Microphthalmia/coloboma and skeletal dysplasia syndromeHP:0040283 - Occasional5
HP:0008873HP:0008905Rhizomelia1MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX.22
HP:0008873HP:0008905Rhizomelia1MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0008873HP:0008905Rhizomelia1MTOR CL E G H24753942OMIM:616638Smith-Kingsmore syndrome.68
HP:0008873HP:0008905Rhizomelia1MYSM1 CL E G H11480329401OMIM:618116Bone marrow failure syndrome 4.
HP:0008873HP:0008905Rhizomelia1MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0008873HP:0008890Severe short-limb dwarfism1NSMCE2 CL E G H28605326513ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent2
HP:0008873HP:0008905Rhizomelia1PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0008873HP:0008905Rhizomelia1PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040281 - Very frequent11
HP:0008873HP:0008905Rhizomelia1PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0008873HP:0008905Rhizomelia1PKDCC CL E G H9146125123OMIM:618821RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0008873HP:0008905Rhizomelia1POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis10
HP:0008873HP:0008921Neonatal short-limb short stature1PRKACA CL E G H55669380ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0008873HP:0008921Neonatal short-limb short stature1PRKACB CL E G H55679381ORPHA:289Ellis Van Creveld syndromeHP:0040281 - Very frequent2
HP:0008873HP:0008905Rhizomelia1PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0008873HP:0008905Rhizomelia1PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0008873HP:0008905Rhizomelia1PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0008873HP:0008921Neonatal short-limb short stature1PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0008873HP:0008905Rhizomelia1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia.37
HP:0008873HP:0008921Neonatal short-limb short stature1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0008873HP:0008905Rhizomelia1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0008873HP:0008845Mesomelic short stature1SHOX CL E G H647310853OMIM:249700Langer mesomelic dysplasia.66
HP:0008873HP:0008905Rhizomelia1SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasia66
HP:0008873HP:0008905Rhizomelia1SIK3 CL E G H2338729165OMIM:618162Spondyloepimetaphyseal dysplasia, Krakow type.
HP:0008873HP:0008921Neonatal short-limb short stature1SLC26A2 CL E G H183610994OMIM:600972Achondrogenesis, type IB.166
HP:0008873HP:0008905Rhizomelia1SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0008873HP:0008921Neonatal short-limb short stature1SLC26A2 CL E G H183610994OMIM:222600Diastrophic dysplasia.166
HP:0008873HP:0008921Neonatal short-limb short stature1SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040281 - Very frequent166
HP:0008873HP:0008905Rhizomelia1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0008873HP:0008921Neonatal short-limb short stature1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia.109
HP:0008873HP:0008905Rhizomelia1TBX15 CL E G H691311594OMIM:260660Cousin syndrome.5
HP:0008873HP:0008905Rhizomelia1TONSL CL E G H47967801ORPHA:93357SPONASTRIME dysplasiaHP:0040282 - Frequent
HP:0008873HP:0008845Mesomelic short stature1TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0008873HP:0008905Rhizomelia1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0008873HP:0008905Rhizomelia1WDR19 CL E G H5772818340OMIM:614376Short-Rib thoracic dysplasia 5 with or without polydactyly.95
HP:0008873HP:0008905Rhizomelia1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0008873HP:0008905Rhizomelia1WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2.136
HP:0008873HP:0008905Rhizomelia1WNT5A CL E G H747412784OMIM:180700Robinow syndrome, autosomal dominant 198
HP:0008873HP:0008890Severe short-limb dwarfism1XRCC4 CL E G H751812831ORPHA:436182Microcephalic primordial dwarfism-insulin resistance syndromeHP:0040281 - Very frequent9
HP:0008873HP:0005069Rhizo-meso-acromelic limb shortening2 CL E G H
HP:0008873HP:0005026Mesomelic/rhizomelic limb shortening2ASXL1 CL E G H17102318318OMIM:605039Bohring-Opitz syndrome.145
HP:0008873HP:0012106Rhizomelic leg shortening2CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0008873HP:0004991Rhizomelic arm shortening2CSPP1 CL E G H7984826193ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional57
HP:0008873HP:0004991Rhizomelic arm shortening2DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease65
HP:0008873HP:0004991Rhizomelic arm shortening2FGFR2 CL E G H22633689OMIM:101200Apert syndrome175
HP:0008873HP:0004991Rhizomelic arm shortening2FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0008873HP:0004991Rhizomelic arm shortening2GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0008873HP:0012106Rhizomelic leg shortening2KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0008873HP:0004991Rhizomelic arm shortening2KIAA0586 CL E G H978619960ORPHA:397715Joubert syndrome with Jeune asphyxiating thoracic dystrophyHP:0040283 - Occasional24
HP:0008873HP:0004991Rhizomelic arm shortening2MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0008873HP:0005026Mesomelic/rhizomelic limb shortening2SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasiaHP:0040281 - Very frequent66
HP:0008873HP:0004991Rhizomelic arm shortening2SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166


Genes (106) :ACAN AGPS ALG12 ALG9 ALPL ARCN1 ASXL1 B3GAT3 B3GLCT BMPR1B CANT1 CEP120 CEP57 CFAP410 CHST3 CLPB COG1 COL10A1 COL11A1 COL1A1 COL1A2 COL2A1 COMP CREB3L1 CRTAP CSGALNACT1 CSPP1 CTSK DDR2 DDRGK1 DHCR24 DHCR7 DVL1 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EBP EVC EVC2 FGFR1 FGFR2 FGFR3 FLNB FZD2 GDF5 GLI1 GNPAT GPC6 GPX4 GSC HDAC6 HS2ST1 HSPG2 IFT122 IFT140 IFT43 IFT52 IFT80 IHH INPPL1 KDELR2 KIAA0586 KIAA0753 KMT2A KYNU LBR MAB21L2 MATN3 MBTPS2 MESD MIR140 MMP13 MTOR MYSM1 NSMCE2 NXN P3H1 PCYT1A PEX7 PKDCC POC1A PPIB PRKACA PRKACB PRKAR1A PRKG2 PTH1R RMRP ROR2 SHOX SIK3 SLC26A2 SLC35D1 SLC39A8 SOX9 TBX15 TONSL TRIP11 TRPV4 WDR19 WDR35 WNT5A XRCC4 XYLT1

Diseases (142) :ORPHA:171866 OMIM:612813 OMIM:600121 OMIM:607143 ORPHA:79328 OMIM:241500 OMIM:617164 OMIM:605039 OMIM:245600 ORPHA:709 OMIM:261540 OMIM:609441 ORPHA:2098 OMIM:251450 ORPHA:1425 OMIM:616300 OMIM:614114 OMIM:602271 ORPHA:263463 OMIM:143095 OMIM:616271 ORPHA:263508 OMIM:611209 ORPHA:174 ORPHA:440354 OMIM:228520 OMIM:166210 OMIM:259420 OMIM:200610 OMIM:156550 ORPHA:85166 OMIM:151210 OMIM:132400 OMIM:177170 ORPHA:750 OMIM:616229 OMIM:610682 ORPHA:397715 ORPHA:763 OMIM:271665 OMIM:602557 OMIM:602398 ORPHA:818 OMIM:180700 ORPHA:239 OMIM:223800 ORPHA:93271 ORPHA:289 OMIM:302960 OMIM:225500 OMIM:166250 ORPHA:2645 OMIM:101200 ORPHA:15 OMIM:100800 OMIM:616482 ORPHA:429 OMIM:146000 ORPHA:1860 OMIM:187600 OMIM:187601 ORPHA:1190 OMIM:108720 OMIM:108721 ORPHA:1263 ORPHA:93328 OMIM:164745 OMIM:201250 ORPHA:968 OMIM:200700 OMIM:228900 OMIM:222765 ORPHA:93329 OMIM:258315 ORPHA:93317 OMIM:250220 OMIM:602471 OMIM:300863 ORPHA:163966 OMIM:619194 OMIM:224410 ORPHA:1515 OMIM:218330 OMIM:266920 OMIM:611263 OMIM:607778 OMIM:258480 ORPHA:3144 OMIM:619131 OMIM:619479 ORPHA:319182 OMIM:617661 OMIM:215140 ORPHA:1426 OMIM:618019 OMIM:615877 OMIM:608728 ORPHA:156728 OMIM:301014 OMIM:618644 OMIM:618618 OMIM:602111 OMIM:616638 OMIM:618116 ORPHA:508542 ORPHA:436182 ORPHA:1507 OMIM:610915 OMIM:608940 ORPHA:85167 OMIM:215100 OMIM:618821 OMIM:614813 OMIM:259440 OMIM:101800 OMIM:619636 OMIM:619638 ORPHA:50945 OMIM:607095 OMIM:250250 ORPHA:175 ORPHA:2632 OMIM:249700 ORPHA:240 OMIM:127300 OMIM:618162 OMIM:600972 ORPHA:56304 ORPHA:628 OMIM:222600 ORPHA:93307 OMIM:269250 ORPHA:468699 OMIM:114290 OMIM:260660 ORPHA:93357 OMIM:271510 OMIM:184260 OMIM:156530 OMIM:614376 OMIM:613610 OMIM:616541
 

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