Human Phenotype Ontology 
Grandparent Node:
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Abnormal metacarpal morphology (HP:0005916)help
Grandparent Node:
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Aplasia/hypoplasia involving bones of the hand (HP:0005927)help
Parent Node:
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Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)help
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Short metacarpal (HP:0010049)help
Term ID: 10049
Name: Short metacarpal
Synonym: Brachymetacarpalia; Hypoplastic metacarpal; Metacarpal hypoplasia; Short metacarpal bones; Short metacarpals; Shortened long bone of hand; Shortened long bones of hand; Shortened metacarpals; Shortening of metacarpals
Definition: Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Comments:
Reference: HP:0010049
Genes and Diseases:
 
       Child Nodes:
........expandShortening of all metacarpals (HP:0005720) help
........expandCuboidal metacarpal (HP:0006011) help
........expandShort metacarpals with rounded proximal ends (HP:0006161) help
........expandShort 1st metacarpal (HP:0010034) help
........expandShort 2nd metacarpal (HP:0010038) help
........expandShort 3rd metacarpal (HP:0010041) help
........expandShort 4th metacarpal (HP:0010044) help
........expandShort 5th metacarpal (HP:0010047) help

 Sister Nodes: 
..expandAplasia of metacarpal bones (HP:0010048) help
..expandAplasia/Hypoplasia of the 1st metacarpal (HP:0010026) help
..expandAplasia/Hypoplasia of the 2nd metacarpal (HP:0010036) help
..expandAplasia/Hypoplasia of the 3rd metacarpal (HP:0010039) help
..expandAplasia/Hypoplasia of the 4th metacarpal (HP:0010042) help
..expandAplasia/Hypoplasia of the 5th metacarpal (HP:0010045) 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:0010049HP:0010049Short metacarpal0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0010049HP:0010049Short metacarpal0ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 172
HP:0010049HP:0010049Short metacarpal0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040284 - Very rare2
HP:0010049HP:0010049Short metacarpal0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndrome7
HP:0010049HP:0010049Short metacarpal0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0010049HP:0010049Short metacarpal0B3GLCT CL E G H14517320207OMIM:261540Peters-Plus syndrome.36
HP:0010049HP:0010049Short metacarpal0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0010049HP:0010049Short metacarpal0BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A213
HP:0010049HP:0010049Short metacarpal0BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies13
HP:0010049HP:0010049Short metacarpal0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0010049HP:0010049Short metacarpal0BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A290
HP:0010049HP:0010049Short metacarpal0BPNT2 CL E G H5492826019OMIM:614078Chondrodysplasia with joint dislocations, Gpapp type.
HP:0010049HP:0010049Short metacarpal0BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndrome
HP:0010049HP:0010049Short metacarpal0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0010049HP:0010049Short metacarpal0CD96 CL E G H1022516892OMIM:211750C syndrome.83
HP:0010049HP:0010049Short metacarpal0CHST3 CL E G H94691971ORPHA:263463CHST3-related skeletal dysplasiaHP:0040282 - Frequent165
HP:0010049HP:0010049Short metacarpal0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0010049HP:0010049Short metacarpal0CHSY1 CL E G H2285617198OMIM:605282Temtamy preaxial brachydactyly syndrome.16
HP:0010049HP:0010049Short metacarpal0COG4 CL E G H2583918620OMIM:618150Saul-Wilson syndrome.67
HP:0010049HP:0010049Short metacarpal0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040283 - Occasional222
HP:0010049HP:0010049Short metacarpal0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0010049HP:0010049Short metacarpal0COL2A1 CL E G H12802200OMIM:609162Czech dysplasia, Metatarsal type.284
HP:0010049HP:0010049Short metacarpal0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0010049HP:0010049Short metacarpal0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy.137
HP:0010049HP:0010049Short metacarpal0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0010049HP:0010049Short metacarpal0COMP CL E G H13112227ORPHA:750Pseudoachondroplasia89
HP:0010049HP:0010049Short metacarpal0COMP CL E G H13112227OMIM:177170Pseudoachondroplasia89
HP:0010049HP:0010049Short metacarpal0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0010049HP:0010049Short metacarpal0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0010049HP:0010049Short metacarpal0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 127
HP:0010049HP:0010049Short metacarpal0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0010049HP:0010049Short metacarpal0DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010049HP:0010049Short metacarpal0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0010049HP:0010049Short metacarpal0DONSON CL E G H299802993OMIM:617604Microcephaly, short stature, and limb abnormalities.9
HP:0010049HP:0010049Short metacarpal0DYM CL E G H5480821317OMIM:223800Dyggve-Melchior-Clausen disease.65
HP:0010049HP:0010049Short metacarpal0DYM CL E G H5480821317OMIM:607326Smith-Mccort dysplasia 1.65
HP:0010049HP:0010049Short metacarpal0EIF4A3 CL E G H977518683OMIM:268305Robin sequence with cleft mandible and limb anomalies.4
HP:0010049HP:0010049Short metacarpal0EXT1 CL E G H21313512OMIM:133700Exostoses, multiple, type I.96
HP:0010049HP:0010049Short metacarpal0EXT1 CL E G H21313512ORPHA:321Multiple osteochondromasHP:0040283 - Occasional96
HP:0010049HP:0010049Short metacarpal0EXT2 CL E G H21323513OMIM:133701Exostoses, multiple, type II.102
HP:0010049HP:0010049Short metacarpal0EXT2 CL E G H21323513ORPHA:321Multiple osteochondromasHP:0040283 - Occasional102
HP:0010049HP:0010049Short metacarpal0EXTL3 CL E G H21373518ORPHA:508533Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndromeHP:0040282 - Frequent3
HP:0010049HP:0010049Short metacarpal0FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I157
HP:0010049HP:0010049Short metacarpal0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2114
HP:0010049HP:0010049Short metacarpal0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0010049HP:0010049Short metacarpal0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040283 - Occasional1361
HP:0010049HP:0010049Short metacarpal0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant1361
HP:0010049HP:0010049Short metacarpal0FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects
HP:0010049HP:0010049Short metacarpal0FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosa136
HP:0010049HP:0010049Short metacarpal0FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0010049HP:0010049Short metacarpal0FGFR1 CL E G H22603688OMIM:166250Osteoglophonic dysplasia.172
HP:0010049HP:0010049Short metacarpal0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent493
HP:0010049HP:0010049Short metacarpal0FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I493
HP:0010049HP:0010049Short metacarpal0FLNA CL E G H23163754OMIM:304120Otopalatodigital syndrome, type II.493
HP:0010049HP:0010049Short metacarpal0FLNB CL E G H23173755OMIM:108720Atelosteogenesis, type I.233
HP:0010049HP:0010049Short metacarpal0FLNB CL E G H23173755OMIM:150250Larsen syndrome.233
HP:0010049HP:0010049Short metacarpal0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0010049HP:0010049Short metacarpal0FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasia
HP:0010049HP:0010049Short metacarpal0FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA
HP:0010049HP:0010049Short metacarpal0GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson typeHP:0040282 - Frequent52
HP:0010049HP:0010049Short metacarpal0GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type52
HP:0010049HP:0010049Short metacarpal0GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasia52
HP:0010049HP:0010049Short metacarpal0GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A252
HP:0010049HP:0010049Short metacarpal0GDF5 CL E G H82004220OMIM:113100Brachydactyly, type C52
HP:0010049HP:0010049Short metacarpal0GDF5 CL E G H82004220OMIM:228900Fibular hypoplasia and complex brachydactyly52
HP:0010049HP:0010049Short metacarpal0GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndrome270
HP:0010049HP:0010049Short metacarpal0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndrome270
HP:0010049HP:0010049Short metacarpal0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0010049HP:0010049Short metacarpal0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0010049HP:0010049Short metacarpal0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0010049HP:0010049Short metacarpal0GNAS CL E G H27784392OMIM:603233Pseudohypoparathyroidism, type IBHP:0040283 - Occasional101
HP:0010049HP:0010049Short metacarpal0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0010049HP:0010049Short metacarpal0GNAS CL E G H27784392ORPHA:79445Pseudopseudohypoparathyroidism101
HP:0010049HP:0010049Short metacarpal0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0010049HP:0010049Short metacarpal0GNAS-AS1 CL E G H14977524872OMIM:603233Pseudohypoparathyroidism, type IBHP:0040283 - Occasional1
HP:0010049HP:0010049Short metacarpal0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0010049HP:0010049Short metacarpal0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0010049HP:0010049Short metacarpal0HDAC4 CL E G H975914063ORPHA:10012q37 microdeletion syndromeHP:0040282 - Frequent33
HP:0010049HP:0010049Short metacarpal0HDAC4 CL E G H975914063OMIM:600430Chromosome 2q37 deletion syndrome.33
HP:0010049HP:0010049Short metacarpal0HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndrome37
HP:0010049HP:0010049Short metacarpal0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0010049HP:0010049Short metacarpal0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome.
HP:0010049HP:0010049Short metacarpal0HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome11
HP:0010049HP:0010049Short metacarpal0HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndrome11
HP:0010049HP:0010049Short metacarpal0HOXD13 CL E G H32395136ORPHA:93387Brachydactyly type EHP:0040281 - Very frequent25
HP:0010049HP:0010049Short metacarpal0HOXD13 CL E G H32395136OMIM:113300Brachydactyly, type E.25
HP:0010049HP:0010049Short metacarpal0HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao type25
HP:0010049HP:0010049Short metacarpal0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0010049HP:0010049Short metacarpal0IFT80 CL E G H5756029262OMIM:611263Asphyxiating thoracic dystrophy 2.65
HP:0010049HP:0010049Short metacarpal0IHH CL E G H35495956OMIM:607778Acrocapitofemoral dysplasia44
HP:0010049HP:0010049Short metacarpal0IHH CL E G H35495956OMIM:112500Brachydactyly, type A144
HP:0010049HP:0010049Short metacarpal0INPPL1 CL E G H36366080OMIM:258480OPSISMODYSPLASIA18
HP:0010049HP:0010049Short metacarpal0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0010049HP:0010049Short metacarpal0KNSTRN CL E G H9041730767OMIM:613328Roifman-Chitayat syndrome.1
HP:0010049HP:0010049Short metacarpal0LAMA5 CL E G H39116485OMIM:6200765
HP:0010049HP:0010049Short metacarpal0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0010049HP:0010049Short metacarpal0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010049HP:0010049Short metacarpal0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0010049HP:0010049Short metacarpal0LONP1 CL E G H93619479OMIM:600373CODAS syndrome.8
HP:0010049HP:0010049Short metacarpal0LONP1 CL E G H93619479ORPHA:1458CODAS syndromeHP:0040281 - Very frequent8
HP:0010049HP:0010049Short metacarpal0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040283 - Occasional12
HP:0010049HP:0010049Short metacarpal0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040282 - Frequent11
HP:0010049HP:0010049Short metacarpal0MAP3K7 CL E G H68856859OMIM:617137Frontometaphyseal dysplasia 2.11
HP:0010049HP:0010049Short metacarpal0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0010049HP:0010049Short metacarpal0MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 141
HP:0010049HP:0010049Short metacarpal0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040283 - Occasional
HP:0010049HP:0010049Short metacarpal0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0010049HP:0010049Short metacarpal0NHS CL E G H48107820ORPHA:627Nance-Horan syndromeHP:0040282 - Frequent88
HP:0010049HP:0010049Short metacarpal0NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndrome494
HP:0010049HP:0010049Short metacarpal0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010049HP:0010049Short metacarpal0NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A22
HP:0010049HP:0010049Short metacarpal0NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0010049HP:0010049Short metacarpal0NPR2 CL E G H48827944OMIM:602875Acromesomelic dysplasia, Maroteaux type.53
HP:0010049HP:0010049Short metacarpal0P3H1 CL E G H6417519316OMIM:610915Osteogenesis imperfecta, type VIII.43
HP:0010049HP:0010049Short metacarpal0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II531
HP:0010049HP:0010049Short metacarpal0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0010049HP:0010049Short metacarpal0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040281 - Very frequent11
HP:0010049HP:0010049Short metacarpal0PDE3A CL E G H51398778ORPHA:1276Brachydactyly-arterial hypertension syndromeHP:0040281 - Very frequent9
HP:0010049HP:0010049Short metacarpal0PDE3A CL E G H51398778OMIM:112410Hypertension and brachydactyly syndrome.9
HP:0010049HP:0010049Short metacarpal0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040281 - Very frequent113
HP:0010049HP:0010049Short metacarpal0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance.113
HP:0010049HP:0010049Short metacarpal0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent113
HP:0010049HP:0010049Short metacarpal0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040281 - Very frequent113
HP:0010049HP:0010049Short metacarpal0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040282 - Frequent72
HP:0010049HP:0010049Short metacarpal0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040282 - Frequent45
HP:0010049HP:0010049Short metacarpal0PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010049HP:0010049Short metacarpal0PIK3CD CL E G H52938977OMIM:613328Roifman-Chitayat syndrome.9
HP:0010049HP:0010049Short metacarpal0POC1A CL E G H2588624488OMIM:614813Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis.10
HP:0010049HP:0010049Short metacarpal0POR CL E G H54479208ORPHA:95699Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyHP:0040283 - Occasional76
HP:0010049HP:0010049Short metacarpal0PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia.20
HP:0010049HP:0010049Short metacarpal0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040281 - Very frequent134
HP:0010049HP:0010049Short metacarpal0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance134
HP:0010049HP:0010049Short metacarpal0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040281 - Very frequent134
HP:0010049HP:0010049Short metacarpal0PRKG2 CL E G H55939416OMIM:619636ACROMESOMELIC DYSPLASIA 4; AMD4
HP:0010049HP:0010049Short metacarpal0PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010049HP:0010049Short metacarpal0PRMT7 CL E G H5449625557OMIM:617157Short stature, brachydactyly, intellectual developmental disability, and seizures.6
HP:0010049HP:0010049Short metacarpal0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0010049HP:0010049Short metacarpal0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0010049HP:0010049Short metacarpal0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040282 - Frequent58
HP:0010049HP:0010049Short metacarpal0PTHLH CL E G H57449607ORPHA:93387Brachydactyly type EHP:0040281 - Very frequent6
HP:0010049HP:0010049Short metacarpal0PTHLH CL E G H57449607OMIM:613382Brachydactyly, type E2.6
HP:0010049HP:0010049Short metacarpal0RAB33B CL E G H8345216075OMIM:615222Smith-Mccort dysplasia 2.53
HP:0010049HP:0010049Short metacarpal0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0010049HP:0010049Short metacarpal0RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndrome25
HP:0010049HP:0010049Short metacarpal0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040283 - Occasional445
HP:0010049HP:0010049Short metacarpal0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0010049HP:0010049Short metacarpal0RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis.37
HP:0010049HP:0010049Short metacarpal0RNU4ATAC CL E G H10015168334016OMIM:210710Microcephalic osteodysplastic primordial dwarfism, type I.15
HP:0010049HP:0010049Short metacarpal0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0010049HP:0010049Short metacarpal0RPS6KA3 CL E G H619710432ORPHA:192Coffin-Lowry syndromeHP:0040282 - Frequent65
HP:0010049HP:0010049Short metacarpal0RPS6KA3 CL E G H619710432OMIM:303600Coffin-Lowry syndrome.65
HP:0010049HP:0010049Short metacarpal0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040282 - Frequent2
HP:0010049HP:0010049Short metacarpal0RSPRY1 CL E G H8997029420OMIM:616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type.2
HP:0010049HP:0010049Short metacarpal0RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0010049HP:0010049Short metacarpal0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0010049HP:0010049Short metacarpal0SALL4 CL E G H5716715924OMIM:147750Ivic syndrome86
HP:0010049HP:0010049Short metacarpal0SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome143
HP:0010049HP:0010049Short metacarpal0SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndrome143
HP:0010049HP:0010049Short metacarpal0SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0010049HP:0010049Short metacarpal0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0010049HP:0010049Short metacarpal0SLC26A2 CL E G H183610994ORPHA:56304Atelosteogenesis type IIHP:0040282 - Frequent166
HP:0010049HP:0010049Short metacarpal0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0010049HP:0010049Short metacarpal0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040283 - Occasional166
HP:0010049HP:0010049Short metacarpal0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0010049HP:0010049Short metacarpal0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome.146
HP:0010049HP:0010049Short metacarpal0SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndrome135
HP:0010049HP:0010049Short metacarpal0SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndrome91
HP:0010049HP:0010049Short metacarpal0SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010049HP:0010049Short metacarpal0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0010049HP:0010049Short metacarpal0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010049HP:0010049Short metacarpal0SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesis23
HP:0010049HP:0010049Short metacarpal0STX16 CL E G H867511431OMIM:603233Pseudohypoparathyroidism, type IBHP:0040283 - Occasional86
HP:0010049HP:0010049Short metacarpal0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0010049HP:0010049Short metacarpal0SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010049HP:0010049Short metacarpal0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0010049HP:0010049Short metacarpal0TRPS1 CL E G H722712340ORPHA:77258Trichorhinophalangeal syndrome type 1 and 3HP:0040281 - Very frequent171
HP:0010049HP:0010049Short metacarpal0TRPS1 CL E G H722712340OMIM:190350Trichorhinophalangeal syndrome, type I.171
HP:0010049HP:0010049Short metacarpal0TRPS1 CL E G H722712340OMIM:190351Trichorhinophalangeal syndrome, type III.171
HP:0010049HP:0010049Short metacarpal0TWIST2 CL E G H11758120670OMIM:200110Ablepharon-Macrostomia syndromeHP:0040283 - Occasional7
HP:0010049HP:0010049Short metacarpal0VPS13B CL E G H1576802183OMIM:216550Cohen syndrome.546
HP:0010049HP:0010049Short metacarpal0VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0010049HP:0010049Short metacarpal0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0010049HP:0010034Short 1st metacarpal1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva.49
HP:0010049HP:0006161Short metacarpals with rounded proximal ends1ADAMTSL2 CL E G H971914631OMIM:231050Geleophysic dysplasia 1.72
HP:0010049HP:0010038Short 2nd metacarpal1BMP2 CL E G H6501069ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional13
HP:0010049HP:0010047Short 5th metacarpal1BMP2 CL E G H6501069OMIM:617877Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies.13
HP:0010049HP:0010034Short 1st metacarpal1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0010049HP:0010038Short 2nd metacarpal1BMPR1B CL E G H6581077ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional90
HP:0010049HP:0010034Short 1st metacarpal1BRD4 CL E G H2347613575ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent
HP:0010049HP:0010034Short 1st metacarpal1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0010049HP:0010047Short 5th metacarpal1COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0010049HP:0005720Shortening of all metacarpals1COMP CL E G H13112227ORPHA:750PseudoachondroplasiaHP:0040282 - Frequent89
HP:0010049HP:0010044Short 4th metacarpal1DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0010049HP:0010034Short 1st metacarpal1DLK1 CL E G H87882907ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0010049HP:0010034Short 1st metacarpal1FANCI CL E G H5521525568OMIM:609053Fanconi anemia, complementation group I.157
HP:0010049HP:0010044Short 4th metacarpal1FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0010049HP:0010044Short 4th metacarpal1FBXL3 CL E G H2622413599OMIM:606220Intellectual developmental disorder with short stature, facial anomalies, and speech defects.
HP:0010049HP:0010047Short 5th metacarpal1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0010049HP:0010044Short 4th metacarpal1FERMT1 CL E G H5561215889ORPHA:2908Kindler epidermolysis bullosaHP:0040283 - Occasional136
HP:0010049HP:0010047Short 5th metacarpal1FGF16 CL E G H88233672OMIM:309630Metacarpal 4-5 fusion3
HP:0010049HP:0010047Short 5th metacarpal1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0010049HP:0010044Short 4th metacarpal1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0010049HP:0010041Short 3rd metacarpal1FLNA CL E G H23163754OMIM:311300Otopalatodigital syndrome, type I.493
HP:0010049HP:0010034Short 1st metacarpal1FZD2 CL E G H25354040ORPHA:93328Autosomal dominant omodysplasiaHP:0040281 - Very frequent
HP:0010049HP:0010034Short 1st metacarpal1FZD2 CL E G H25354040OMIM:164745OMODYSPLASIA.
HP:0010049HP:0006011Cuboidal metacarpal1GDF5 CL E G H82004220OMIM:201250Acromesomelic dysplasia, Hunter-Thompson type.52
HP:0010049HP:0006011Cuboidal metacarpal1GDF5 CL E G H82004220ORPHA:968Acromesomelic dysplasia, Hunter-Thompson typeHP:0040282 - Frequent52
HP:0010049HP:0010034Short 1st metacarpal1GDF5 CL E G H82004220ORPHA:63442Angel-shaped phalango-epiphyseal dysplasiaHP:0040281 - Very frequent52
HP:0010049HP:0010038Short 2nd metacarpal1GDF5 CL E G H82004220ORPHA:93396Brachydactyly type A2HP:0040283 - Occasional52
HP:0010049HP:0010034Short 1st metacarpal1GDF5 CL E G H82004220OMIM:113100Brachydactyly, type CHP:0040282 - Frequent52
HP:0010049HP:0010044Short 4th metacarpal1GLI3 CL E G H27374319OMIM:146510Pallister-Hall syndromeHP:0040283 - Occasional270
HP:0010049HP:0010044Short 4th metacarpal1GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0010049HP:0010047Short 5th metacarpal1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0010049HP:0010044Short 4th metacarpal1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0010049HP:0010041Short 3rd metacarpal1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0010049HP:0010041Short 3rd metacarpal1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0010049HP:0010044Short 4th metacarpal1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0010049HP:0010047Short 5th metacarpal1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0010049HP:0010047Short 5th metacarpal1GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040282 - Frequent101
HP:0010049HP:0010044Short 4th metacarpal1GNAS CL E G H27784392ORPHA:79445PseudopseudohypoparathyroidismHP:0040282 - Frequent101
HP:0010049HP:0010034Short 1st metacarpal1HDAC8 CL E G H5586913315ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent37
HP:0010049HP:0010034Short 1st metacarpal1HOXA13 CL E G H32095102OMIM:140000Hand-Foot-Genital syndrome.11
HP:0010049HP:0010034Short 1st metacarpal1HOXA13 CL E G H32095102ORPHA:2438Hand-foot-genital syndromeHP:0040281 - Very frequent11
HP:0010049HP:0010047Short 5th metacarpal1HOXD13 CL E G H32395136ORPHA:93409Brachydactyly-syndactyly, Zhao typeHP:0040281 - Very frequent25
HP:0010049HP:0010034Short 1st metacarpal1LAMA5 CL E G H39116485OMIM:6200765
HP:0010049HP:0010044Short 4th metacarpal1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010049HP:0010047Short 5th metacarpal1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010049HP:0010041Short 3rd metacarpal1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0010049HP:0010044Short 4th metacarpal1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0010049HP:0010047Short 5th metacarpal1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0010049HP:0010034Short 1st metacarpal1MEG3 CL E G H5538414575ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional1
HP:0010049HP:0010034Short 1st metacarpal1NIPBL CL E G H2583628862ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent494
HP:0010049HP:0010034Short 1st metacarpal1NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0010049HP:0010047Short 5th metacarpal1NOG CL E G H92417866OMIM:185800Symphalangism, proximal, 1A.22
HP:0010049HP:0010034Short 1st metacarpal1NOG CL E G H92417866OMIM:186570Tarsal-Carpal coalition syndrome22
HP:0010049HP:0010034Short 1st metacarpal1PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0010049HP:0010044Short 4th metacarpal1PIGS CL E G H9400514937OMIM:618143GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0010049HP:0010044Short 4th metacarpal1PORCN CL E G H6484017652OMIM:305600Focal dermal hypoplasia20
HP:0010049HP:0010047Short 5th metacarpal1PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010049HP:0010044Short 4th metacarpal1PRKG2 CL E G H55939416OMIM:619638SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0010049HP:0010044Short 4th metacarpal1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome.665
HP:0010049HP:0010044Short 4th metacarpal1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome.40
HP:0010049HP:0010034Short 1st metacarpal1RAD21 CL E G H58859811ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent25
HP:0010049HP:0010034Short 1st metacarpal1RTL1 CL E G H38801514665ORPHA:96334Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14HP:0040283 - Occasional
HP:0010049HP:0010047Short 5th metacarpal1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0010049HP:0010034Short 1st metacarpal1SALL4 CL E G H5716715924OMIM:147750Ivic syndrome.86
HP:0010049HP:0010034Short 1st metacarpal1SETBP1 CL E G H2604015573OMIM:269150Schinzel-Giedion midface-retraction syndrome.143
HP:0010049HP:0010034Short 1st metacarpal1SETBP1 CL E G H2604015573ORPHA:798Schinzel-Giedion syndromeHP:0040283 - Occasional143
HP:0010049HP:0010044Short 4th metacarpal1SHOX CL E G H647310853OMIM:127300Leri-Weill dyschondrosteosis66
HP:0010049HP:0010034Short 1st metacarpal1SMC1A CL E G H824311111ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent135
HP:0010049HP:0010034Short 1st metacarpal1SMC3 CL E G H91262468ORPHA:199Cornelia de Lange syndromeHP:0040281 - Very frequent91
HP:0010049HP:0010034Short 1st metacarpal1SOX9 CL E G H666211204OMIM:114290Campomelic dysplasia109
HP:0010049HP:0010034Short 1st metacarpal1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010049HP:0010047Short 5th metacarpal1SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndrome138
HP:0010049HP:0010044Short 4th metacarpal1SRY CL E G H673611311ORPHA:177245,X/46,XY mixed gonadal dysgenesisHP:0040283 - Occasional23
HP:0010049HP:0010044Short 4th metacarpal1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome.124
HP:0010049HP:0010047Short 5th metacarpal1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010049HP:0010041Short 3rd metacarpal1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010049HP:0010044Short 4th metacarpal1SVBP CL E G H37496929204OMIM:618569NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0010049HP:0010034Short 1st metacarpal1VPS35L CL E G H5702024641OMIM:619135RITSCHER-SCHINZEL SYNDROME 3; RTSC3


Genes (121) :ACVR1 ADAMTSL2 ANAPC1 ASXL2 B3GALT6 B3GLCT BGN BMP2 BMPR1B BPNT2 BRD4 CANT1 CD96 CHST3 CHSY1 COG4 COL11A2 COL2A1 COL9A3 COMP CWC27 DCHS1 DDR2 DLK1 DNMT3A DONSON DYM EIF4A3 EXT1 EXT2 EXTL3 FANCI FAT4 FBN1 FBXL3 FERMT1 FGF16 FGFR1 FLNA FLNB FZD2 GDF5 GLI3 GNAS GNAS-AS1 GPX4 HDAC4 HDAC8 HHAT HOXA13 HOXD13 IFT52 IFT80 IHH INPPL1 KCNJ2 KNSTRN LAMA5 LBR LONP1 LTBP3 MAP3K7 MATN3 MEG3 MYSM1 NEPRO NHS NIPBL NOG NPR2 P3H1 PCNT PCYT1A PDE3A PDE4D PEX7 PHYH PIGS PIK3CD POC1A POR PORCN PRKAR1A PRKG2 PRMT7 PTCH1 PTCH2 PTH1R PTHLH RAB33B RAB3GAP2 RAD21 RECQL4 RIPK4 RMRP RNU4ATAC RPS6KA3 RSPRY1 RTL1 RUNX2 SALL4 SETBP1 SHOX SIL1 SLC26A2 SLC39A13 SMARCA2 SMC1A SMC3 SOX9 SRCAP SRY STX16 SUFU SVBP TRIP11 TRPS1 TWIST2 VPS13B VPS35L XYLT1

Diseases (161) :OMIM:135100 OMIM:231050 ORPHA:221008 OMIM:617190 OMIM:271640 OMIM:261540 OMIM:300106 ORPHA:93396 OMIM:617877 OMIM:609441 OMIM:614078 ORPHA:199 OMIM:251450 OMIM:211750 ORPHA:263463 OMIM:143095 OMIM:605282 OMIM:618150 ORPHA:1427 OMIM:215150 OMIM:609162 OMIM:271700 OMIM:600969 OMIM:132400 ORPHA:750 OMIM:177170 ORPHA:166035 OMIM:250410 OMIM:601390 OMIM:271665 ORPHA:96334 OMIM:618724 OMIM:617604 OMIM:223800 OMIM:607326 OMIM:268305 OMIM:133700 ORPHA:321 OMIM:133701 ORPHA:508533 OMIM:609053 OMIM:615546 OMIM:102370 ORPHA:969 OMIM:608328 OMIM:606220 ORPHA:2908 OMIM:309630 OMIM:166250 ORPHA:1826 OMIM:311300 OMIM:304120 OMIM:108720 OMIM:150250 OMIM:272460 ORPHA:93328 OMIM:164745 ORPHA:968 OMIM:201250 ORPHA:63442 OMIM:113100 OMIM:228900 OMIM:146510 ORPHA:672 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:603233 OMIM:612462 ORPHA:79445 OMIM:612463 OMIM:250220 ORPHA:93317 ORPHA:1001 OMIM:600430 ORPHA:1422 OMIM:600092 OMIM:140000 ORPHA:2438 ORPHA:93387 OMIM:113300 ORPHA:93409 OMIM:617102 OMIM:611263 OMIM:607778 OMIM:112500 OMIM:258480 OMIM:170390 OMIM:613328 OMIM:620076 OMIM:215140 OMIM:169400 OMIM:618019 OMIM:600373 ORPHA:1458 OMIM:617137 OMIM:607078 ORPHA:508542 OMIM:618853 ORPHA:627 OMIM:611377 OMIM:185800 OMIM:186570 OMIM:602875 OMIM:610915 OMIM:210720 OMIM:608940 ORPHA:85167 ORPHA:1276 OMIM:112410 ORPHA:950 OMIM:614613 ORPHA:280651 ORPHA:439822 ORPHA:773 OMIM:618143 OMIM:614813 ORPHA:95699 OMIM:305600 OMIM:101800 OMIM:619636 OMIM:619638 OMIM:617157 OMIM:109400 ORPHA:50945 OMIM:613382 OMIM:615222 OMIM:212720 ORPHA:221016 OMIM:263650 OMIM:250460 OMIM:210710 OMIM:616651 ORPHA:192 OMIM:303600 ORPHA:457395 OMIM:616723 OMIM:156510 OMIM:147750 OMIM:269150 ORPHA:798 OMIM:127300 OMIM:248800 ORPHA:56304 OMIM:226900 ORPHA:93307 OMIM:612350 OMIM:601358 OMIM:114290 ORPHA:2044 OMIM:136140 ORPHA:1772 OMIM:618569 OMIM:184260 ORPHA:77258 OMIM:190350 OMIM:190351 OMIM:200110 OMIM:216550 OMIM:619135 OMIM:615777
 

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