Human Phenotype Ontology 
Grandparent Node:
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Abnormality of body height (HP:0000002)help
Grandparent Node:
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Growth delay (HP:0001510)help
Parent Node:
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Short stature (HP:0004322)help
..Starting node
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Proportionate short stature (HP:0003508)help
Term ID: 3508
Name: Proportionate short stature
Synonym: Proportionate small stature; Short stature, proportionate
Definition: A kind of short stature in which different regions of the body are shortened to a comparable extent.
Comments:
Reference: HP:0003508
Genes and Diseases:
 
       Child Nodes:
........expandMild short stature (HP:0003502) help
........expandSevere short stature (HP:0003510) help
........expandModerately short stature (HP:0008848) help

 Sister Nodes: 
..expandAsymmetric short stature (HP:0008929) help
..expandBirth length less than 3rd percentile (HP:0003561) help
..expandDisproportionate short stature (HP:0003498) help
..expandPituitary dwarfism (HP:0000839) 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:0003508HP:0003508Proportionate short stature0ACAN CL E G H176319OMIM:608361Spondyloepiphyseal dysplasia, Kimberley type.34
HP:0003508HP:0003508Proportionate short stature0ACAN CL E G H176319ORPHA:93283Spondyloepiphyseal dysplasia, Kimberley typeHP:0040281 - Very frequent34
HP:0003508HP:0003508Proportionate short stature0ADAMTS10 CL E G H8179413201OMIM:277600Weill-Marchesani syndrome 1.63
HP:0003508HP:0003508Proportionate short stature0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome165
HP:0003508HP:0003508Proportionate short stature0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndrome72
HP:0003508HP:0003508Proportionate short stature0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0003508HP:0003508Proportionate short stature0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndrome34
HP:0003508HP:0003508Proportionate short stature0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosis49
HP:0003508HP:0003508Proportionate short stature0ARSL CL E G H415719ORPHA:79345Brachytelephalangic chondrodysplasia punctataHP:0040282 - Frequent
HP:0003508HP:0003508Proportionate short stature0ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003508HP:0003508Proportionate short stature0ATR CL E G H545882OMIM:210600Seckel syndrome 1.168
HP:0003508HP:0003508Proportionate short stature0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0003508HP:0003508Proportionate short stature0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional276
HP:0003508HP:0003508Proportionate short stature0BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndrome7
HP:0003508HP:0003508Proportionate short stature0CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 591
HP:0003508HP:0003508Proportionate short stature0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 185
HP:0003508HP:0003508Proportionate short stature0CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndrome85
HP:0003508HP:0003508Proportionate short stature0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0003508HP:0003508Proportionate short stature0CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndrome9
HP:0003508HP:0003508Proportionate short stature0CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndrome31
HP:0003508HP:0003508Proportionate short stature0CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndrome50
HP:0003508HP:0003508Proportionate short stature0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003508HP:0003508Proportionate short stature0CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits1
HP:0003508HP:0003508Proportionate short stature0CKAP2L CL E G H15046826877ORPHA:3255Filippi syndrome7
HP:0003508HP:0003508Proportionate short stature0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0003508HP:0003508Proportionate short stature0COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome373
HP:0003508HP:0003508Proportionate short stature0COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1373
HP:0003508HP:0003508Proportionate short stature0COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndrome243
HP:0003508HP:0003508Proportionate short stature0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0003508HP:0003508Proportionate short stature0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type284
HP:0003508HP:0003508Proportionate short stature0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0003508HP:0003508Proportionate short stature0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0003508HP:0003508Proportionate short stature0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0003508HP:0003508Proportionate short stature0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndrome6
HP:0003508HP:0003508Proportionate short stature0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0003508HP:0003508Proportionate short stature0CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndrome
HP:0003508HP:0003508Proportionate short stature0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040283 - Occasional88
HP:0003508HP:0003508Proportionate short stature0CTSA CL E G H54769251OMIM:256540Galactosialidosis51
HP:0003508HP:0003508Proportionate short stature0DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003508HP:0003508Proportionate short stature0DHCR24 CL E G H17182859ORPHA:35107Desmosterolosis72
HP:0003508HP:0003508Proportionate short stature0DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003508HP:0003508Proportionate short stature0DLX5 CL E G H17492918OMIM:220600Split-Hand/foot malformation 1 with sensorineural hearing loss3
HP:0003508HP:0003508Proportionate short stature0DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0003508HP:0003508Proportionate short stature0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0003508HP:0003508Proportionate short stature0DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia3
HP:0003508HP:0003508Proportionate short stature0DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndrome14
HP:0003508HP:0003508Proportionate short stature0DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndrome5
HP:0003508HP:0003508Proportionate short stature0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen disease65
HP:0003508HP:0003508Proportionate short stature0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0003508HP:0003508Proportionate short stature0ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome158
HP:0003508HP:0003508Proportionate short stature0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0003508HP:0003508Proportionate short stature0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0003508HP:0003508Proportionate short stature0ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndrome92
HP:0003508HP:0003508Proportionate short stature0EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers type209
HP:0003508HP:0003508Proportionate short stature0EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis209
HP:0003508HP:0003508Proportionate short stature0EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers type137
HP:0003508HP:0003508Proportionate short stature0EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis137
HP:0003508HP:0003508Proportionate short stature0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 28
HP:0003508HP:0003508Proportionate short stature0FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia1361
HP:0003508HP:0003508Proportionate short stature0FBN1 CL E G H22003603ORPHA:969Acromicric dysplasia1361
HP:0003508HP:0003508Proportionate short stature0FBN1 CL E G H22003603OMIM:608328Weill-Marchesani syndrome 2, dominant.1361
HP:0003508HP:0003508Proportionate short stature0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome62
HP:0003508HP:0003508Proportionate short stature0FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasia172
HP:0003508HP:0003508Proportionate short stature0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0003508HP:0003508Proportionate short stature0FLNB CL E G H23173755OMIM:112310Boomerang dysplasia233
HP:0003508HP:0003508Proportionate short stature0FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndrome
HP:0003508HP:0003508Proportionate short stature0GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA50
HP:0003508HP:0003508Proportionate short stature0GH1 CL E G H26884261OMIM:173100Isolated growth hormone deficiency, type II50
HP:0003508HP:0003508Proportionate short stature0GHR CL E G H26904263OMIM:262500Laron syndrome98
HP:0003508HP:0003508Proportionate short stature0GHR CL E G H26904263ORPHA:633Laron syndrome98
HP:0003508HP:0003508Proportionate short stature0GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0003508HP:0003508Proportionate short stature0GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I120
HP:0003508HP:0003508Proportionate short stature0GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndrome3
HP:0003508HP:0003508Proportionate short stature0GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0003508HP:0003508Proportionate short stature0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplastica52
HP:0003508HP:0003508Proportionate short stature0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum52
HP:0003508HP:0003508Proportionate short stature0HADH CL E G H30334799ORPHA:71212Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiencyHP:0040281 - Very frequent41
HP:0003508HP:0003508Proportionate short stature0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndrome11
HP:0003508HP:0003508Proportionate short stature0HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndrome
HP:0003508HP:0003508Proportionate short stature0HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0003508HP:0003508Proportionate short stature0HOXD13 CL E G H32395136OMIM:113300Brachydactyly, type E25
HP:0003508HP:0003508Proportionate short stature0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0003508HP:0003508Proportionate short stature0HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type345
HP:0003508HP:0003508Proportionate short stature0IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II86
HP:0003508HP:0003508Proportionate short stature0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndrome7
HP:0003508HP:0003508Proportionate short stature0INPPL1 CL E G H36366080ORPHA:2746Opsismodysplasia18
HP:0003508HP:0003508Proportionate short stature0KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS type141
HP:0003508HP:0003508Proportionate short stature0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndrome46
HP:0003508HP:0003508Proportionate short stature0LARP7 CL E G H5157424912OMIM:615071Alazami syndrome16
HP:0003508HP:0003508Proportionate short stature0LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0003508HP:0003508Proportionate short stature0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003508HP:0003508Proportionate short stature0LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasia12
HP:0003508HP:0003508Proportionate short stature0LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003508HP:0003508Proportionate short stature0MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndrome11
HP:0003508HP:0003508Proportionate short stature0MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 532
HP:0003508HP:0003508Proportionate short stature0MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndrome22
HP:0003508HP:0003508Proportionate short stature0MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX22
HP:0003508HP:0003508Proportionate short stature0MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003508HP:0003508Proportionate short stature0MIA3 CL E G H37505624008OMIM:619269ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003508HP:0003508Proportionate short stature0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndrome3
HP:0003508HP:0003508Proportionate short stature0NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0003508HP:0003508Proportionate short stature0NIN CL E G H5119914906OMIM:614851Seckel syndrome 755
HP:0003508HP:0003508Proportionate short stature0NPR2 CL E G H48827944OMIM:616255Short stature with nonspecific skeletal abnormalities.53
HP:0003508HP:0003508Proportionate short stature0NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0003508HP:0003508Proportionate short stature0OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0003508HP:0003508Proportionate short stature0ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndrome53
HP:0003508HP:0003508Proportionate short stature0ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndrome21
HP:0003508HP:0003508Proportionate short stature0ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndrome39
HP:0003508HP:0003508Proportionate short stature0PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome11
HP:0003508HP:0003508Proportionate short stature0PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistance113
HP:0003508HP:0003508Proportionate short stature0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistance113
HP:0003508HP:0003508Proportionate short stature0PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 172
HP:0003508HP:0003508Proportionate short stature0PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndrome77
HP:0003508HP:0003508Proportionate short stature0PIK3R1 CL E G H52958979ORPHA:3163SHORT syndrome43
HP:0003508HP:0003508Proportionate short stature0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0003508HP:0003508Proportionate short stature0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0003508HP:0003508Proportionate short stature0PPP1R15B CL E G H8491914951ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040281 - Very frequent2
HP:0003508HP:0003508Proportionate short stature0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistance134
HP:0003508HP:0003508Proportionate short stature0PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0003508HP:0003508Proportionate short stature0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfism6
HP:0003508HP:0003508Proportionate short stature0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0003508HP:0003508Proportionate short stature0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplastica53
HP:0003508HP:0003508Proportionate short stature0RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0003508HP:0003508Proportionate short stature0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and III15
HP:0003508HP:0003508Proportionate short stature0RPL13 CL E G H613710303OMIM:618728SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0003508HP:0003508Proportionate short stature0RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiency113
HP:0003508HP:0003508Proportionate short stature0RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures113
HP:0003508HP:0003508Proportionate short stature0RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia90
HP:0003508HP:0003508Proportionate short stature0SALL4 CL E G H5716715924ORPHA:2307IVIC syndrome86
HP:0003508HP:0003508Proportionate short stature0SCNN1A CL E G H633710599ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional67
HP:0003508HP:0003508Proportionate short stature0SCNN1B CL E G H633810600ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional61
HP:0003508HP:0003508Proportionate short stature0SCNN1G CL E G H634010602ORPHA:171876Generalized pseudohypoaldosteronism type 1HP:0040283 - Occasional57
HP:0003508HP:0003508Proportionate short stature0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0003508HP:0003508Proportionate short stature0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0003508HP:0003508Proportionate short stature0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0003508HP:0003508Proportionate short stature0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0003508HP:0003508Proportionate short stature0SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
HP:0003508HP:0003508Proportionate short stature0SGMS2 CL E G H16692928395OMIM:126550Calvarial doughnut lesions with bone fragility
HP:0003508HP:0003508Proportionate short stature0SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasia66
HP:0003508HP:0003508Proportionate short stature0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndrome67
HP:0003508HP:0003508Proportionate short stature0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1B166
HP:0003508HP:0003508Proportionate short stature0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4166
HP:0003508HP:0003508Proportionate short stature0SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 324
HP:0003508HP:0003508Proportionate short stature0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome24
HP:0003508HP:0003508Proportionate short stature0SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0003508HP:0003508Proportionate short stature0SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndrome146
HP:0003508HP:0003508Proportionate short stature0SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0003508HP:0003508Proportionate short stature0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0003508HP:0003508Proportionate short stature0STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0003508HP:0003508Proportionate short stature0TBCE CL E G H690511582OMIM:244460Kenny-caffey syndrome, type 1.52
HP:0003508HP:0003508Proportionate short stature0TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosis19
HP:0003508HP:0003508Proportionate short stature0TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 519
HP:0003508HP:0003508Proportionate short stature0TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 431
HP:0003508HP:0003508Proportionate short stature0TKT CL E G H708611834OMIM:617044Short stature, developmental delay, and congenital heart defects.4
HP:0003508HP:0003508Proportionate short stature0TKT CL E G H708611834ORPHA:488618Transketolase deficiencyHP:0040281 - Very frequent4
HP:0003508HP:0003508Proportionate short stature0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1A133
HP:0003508HP:0003508Proportionate short stature0TRMT10A CL E G H9358728403ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndromeHP:0040281 - Very frequent7
HP:0003508HP:0003508Proportionate short stature0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasia214
HP:0003508HP:0003508Proportionate short stature0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0003508HP:0003508Proportionate short stature0TRPV4 CL E G H5934118083OMIM:168400Parastremmatic dwarfism214
HP:0003508HP:0003508Proportionate short stature0TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski type214
HP:0003508HP:0003508Proportionate short stature0WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndrome98
HP:0003508HP:0003508Proportionate short stature0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0003508HP:0003508Proportionate short stature0XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndrome14
HP:0003508HP:0003508Proportionate short stature0ZBTB18 CL E G H1047213030OMIM:612337Mental retardation, autosomal dominant 2216
HP:0003508HP:0003510Severe short stature1ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent165
HP:0003508HP:0003510Severe short stature1ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent72
HP:0003508HP:0003510Severe short stature1ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0003508HP:0003510Severe short stature1AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0003508HP:0003510Severe short stature1ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0003508HP:0003510Severe short stature1ATP11A CL E G H2325013552OMIM:619851LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0003508HP:0003510Severe short stature1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0003508HP:0003510Severe short stature1BRF1 CL E G H297211551ORPHA:444072Cerebellar-facial-dental syndromeHP:0040283 - Occasional7
HP:0003508HP:0003502Mild short stature1CAMK2G CL E G H8181463OMIM:618522Intellectual developmental disorder 59.1
HP:0003508HP:0003510Severe short stature1CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.HP:0003577 - Congenital onset85
HP:0003508HP:0003510Severe short stature1CANT1 CL E G H12458319721ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent85
HP:0003508HP:0003502Mild short stature1CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0003508HP:0003510Severe short stature1CDC45 CL E G H83181739ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent9
HP:0003508HP:0003510Severe short stature1CDC6 CL E G H9901744ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent31
HP:0003508HP:0003510Severe short stature1CDT1 CL E G H8162024576ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent50
HP:0003508HP:0003510Severe short stature1CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0003508HP:0003502Mild short stature1CHST11 CL E G H5051517422OMIM:618167Osteochondrodysplasia, brachydactyly, and overlapping malformed digits.1
HP:0003508HP:0003510Severe short stature1CKAP2L CL E G H15046826877ORPHA:3255Filippi syndromeHP:0040281 - Very frequent7
HP:0003508HP:0003502Mild short stature1COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0003508HP:0003510Severe short stature1COL1A1 CL E G H12772197ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent373
HP:0003508HP:0003502Mild short stature1COL1A1 CL E G H12772197OMIM:130060Ehlers-Danlos syndrome, arthrochalasia type, 1.373
HP:0003508HP:0003510Severe short stature1COL1A2 CL E G H12782198ORPHA:1899Arthrochalasia Ehlers-Danlos syndromeHP:0040281 - Very frequent243
HP:0003508HP:0003510Severe short stature1COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0003508HP:0003510Severe short stature1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040282 - Frequent284
HP:0003508HP:0003502Mild short stature1COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2.110
HP:0003508HP:0003502Mild short stature1COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy.137
HP:0003508HP:0003510Severe short stature1COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0003508HP:0003502Mild short stature1COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0003508HP:0003510Severe short stature1COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent6
HP:0003508HP:0003510Severe short stature1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0003508HP:0003510Severe short stature1CSGALNACT1 CL E G H5579024290ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent
HP:0003508HP:0003510Severe short stature1CTSA CL E G H54769251OMIM:256540Galactosialidosis.51
HP:0003508HP:0003510Severe short stature1DDRGK1 CL E G H6599216110ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat typeHP:0040282 - Frequent
HP:0003508HP:0003510Severe short stature1DHCR24 CL E G H17182859ORPHA:35107DesmosterolosisHP:0040281 - Very frequent72
HP:0003508HP:0003510Severe short stature1DLL3 CL E G H106832909OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003508HP:0003510Severe short stature1DLX5 CL E G H17492918OMIM:220600Split-Hand/foot malformation 1 with sensorineural hearing lossHP:0040283 - Occasional3
HP:0003508HP:0003510Severe short stature1DNMT3A CL E G H17882978OMIM:618724HEYN-SPROUL-JACKSON SYNDROME; HESJAS44
HP:0003508HP:0003502Mild short stature1DOCK3 CL E G H17952989OMIM:618292Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia.3
HP:0003508HP:0003510Severe short stature1DVL1 CL E G H18553084ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent14
HP:0003508HP:0003510Severe short stature1DVL3 CL E G H18573087ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent5
HP:0003508HP:0003510Severe short stature1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0003508HP:0003510Severe short stature1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0003508HP:0003510Severe short stature1ERCC4 CL E G H20723436OMIM:610965XFE progeroid syndrome.158
HP:0003508HP:0003510Severe short stature1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0003508HP:0003510Severe short stature1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome.199
HP:0003508HP:0003510Severe short stature1ESCO2 CL E G H15757027230ORPHA:2319Juberg-Hayward syndromeHP:0040281 - Very frequent92
HP:0003508HP:0003502Mild short stature1EVC CL E G H21213497ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent209
HP:0003508HP:0003502Mild short stature1EVC CL E G H21213497OMIM:193530Weyers acrofacial dysostosis.209
HP:0003508HP:0003502Mild short stature1EVC2 CL E G H13288419747ORPHA:952Acrofacial dysostosis, Weyers typeHP:0040281 - Very frequent137
HP:0003508HP:0003502Mild short stature1EVC2 CL E G H13288419747OMIM:193530Weyers acrofacial dysostosis.137
HP:0003508HP:0003510Severe short stature1FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 2.8
HP:0003508HP:0003510Severe short stature1FBN1 CL E G H22003603ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent1361
HP:0003508HP:0003510Severe short stature1FBN1 CL E G H22003603OMIM:102370Acromicric dysplasia.1361
HP:0003508HP:0003502Mild short stature1FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0003508HP:0003510Severe short stature1FGFR1 CL E G H22603688ORPHA:2645Osteoglosphonic dysplasiaHP:0040281 - Very frequent172
HP:0003508HP:0003510Severe short stature1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans.145
HP:0003508HP:0003510Severe short stature1FLNB CL E G H23173755OMIM:112310Boomerang dysplasia.233
HP:0003508HP:0003510Severe short stature1FZD2 CL E G H25354040ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent
HP:0003508HP:0003510Severe short stature1GH1 CL E G H26884261OMIM:262400Growth hormone deficiency, isolated, type IA.50
HP:0003508HP:0003510Severe short stature1GH1 CL E G H26884261OMIM:173100Isolated growth hormone deficiency, type II.50
HP:0003508HP:0003510Severe short stature1GHR CL E G H26904263ORPHA:633Laron syndromeHP:0040281 - Very frequent98
HP:0003508HP:0003510Severe short stature1GHR CL E G H26904263OMIM:262500Laron syndrome.98
HP:0003508HP:0003510Severe short stature1GHRHR CL E G H26924266OMIM:618157ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV; IGHD444
HP:0003508HP:0003510Severe short stature1GLB1 CL E G H27204298OMIM:230500GM1-gangliosidosis, type I.120
HP:0003508HP:0003510Severe short stature1GMNN CL E G H5105317493ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent3
HP:0003508HP:0003510Severe short stature1GMNN CL E G H5105317493OMIM:616835Meier-Gorlin syndrome 63
HP:0003508HP:0003510Severe short stature1GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent52
HP:0003508HP:0003510Severe short stature1GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0003508HP:0003510Severe short stature1HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent11
HP:0003508HP:0003510Severe short stature1HHAT CL E G H5573318270ORPHA:1422Chondrodysplasia-disorder of sex development syndromeHP:0040281 - Very frequent
HP:0003508HP:0003510Severe short stature1HHAT CL E G H5573318270OMIM:600092Nivelon-Nivelon-Mabille syndrome
HP:0003508HP:0008848Moderately short stature1HOXD13 CL E G H32395136OMIM:113300Brachydactyly, type E.25
HP:0003508HP:0003510Severe short stature1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0003508HP:0003510Severe short stature1HSPG2 CL E G H33395273ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker typeHP:0040282 - Frequent345
HP:0003508HP:0003502Mild short stature1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0003508HP:0003510Severe short stature1IDS CL E G H34235389OMIM:309900Mucopolysaccharidosis, type II.86
HP:0003508HP:0003510Severe short stature1INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0003508HP:0003510Severe short stature1INPPL1 CL E G H36366080ORPHA:2746OpsismodysplasiaHP:0040281 - Very frequent18
HP:0003508HP:0003510Severe short stature1KAT6B CL E G H2352217582ORPHA:3047Blepharophimosis-intellectual disability syndrome, SBBYS typeHP:0040281 - Very frequent141
HP:0003508HP:0003510Severe short stature1KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0003508HP:0003510Severe short stature1LARP7 CL E G H5157424912OMIM:615071Alazami syndrome.16
HP:0003508HP:0003502Mild short stature1LBR CL E G H39306518OMIM:169400Pelger-Huet anomaly70
HP:0003508HP:0003502Mild short stature1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0003508HP:0003510Severe short stature1LTBP3 CL E G H40546716ORPHA:969Acromicric dysplasiaHP:0040281 - Very frequent12
HP:0003508HP:0003510Severe short stature1LYSET CL E G H2617520218OMIM:619345DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE; DMAN
HP:0003508HP:0003510Severe short stature1MAP3K7 CL E G H68856859ORPHA:3238Cardiospondylocarpofacial syndromeHP:0040281 - Very frequent11
HP:0003508HP:0003502Mild short stature1MATN3 CL E G H41486909ORPHA:93311Multiple epiphyseal dysplasia type 5HP:0040282 - Frequent32
HP:0003508HP:0003510Severe short stature1MBTPS2 CL E G H5136015455ORPHA:2273Ichthyosis follicularis-alopecia-photophobia syndromeHP:0040283 - Occasional22
HP:0003508HP:0003510Severe short stature1MBTPS2 CL E G H5136015455OMIM:301014Osteogenesis imperfecta, type XIX.22
HP:0003508HP:0003510Severe short stature1MESP2 CL E G H14587329659OMIM:277300Spondylocostal dysostosis, autosomal recessive 145
HP:0003508HP:0003510Severe short stature1NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040282 - Frequent3
HP:0003508HP:0003510Severe short stature1NEPRO CL E G H2587124496OMIM:618853ANAUXETIC DYSPLASIA 3; ANXD3
HP:0003508HP:0003510Severe short stature1NIN CL E G H5119914906OMIM:614851Seckel syndrome 7.55
HP:0003508HP:0003510Severe short stature1NSMCE2 CL E G H28605326513OMIM:617253Seckel syndrome 102
HP:0003508HP:0003510Severe short stature1OBSL1 CL E G H2336329092OMIM:6129213-M syndrome 2143
HP:0003508HP:0003510Severe short stature1ORC1 CL E G H49988487ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent53
HP:0003508HP:0003510Severe short stature1ORC4 CL E G H50008490ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent21
HP:0003508HP:0003510Severe short stature1ORC6 CL E G H2359417151ORPHA:2554Ear-patella-short stature syndromeHP:0040281 - Very frequent39
HP:0003508HP:0003510Severe short stature1PCYT1A CL E G H51308754ORPHA:85167Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeHP:0040281 - Very frequent11
HP:0003508HP:0003502Mild short stature1PDE4D CL E G H51448783OMIM:614613Acrodysostosis 2 with or without hormone resistanceHP:0040283 - Occasional113
HP:0003508HP:0003502Mild short stature1PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent113
HP:0003508HP:0003510Severe short stature1PEX7 CL E G H51918860OMIM:215100Rhizomelic chondrodysplasia punctata, type 1.72
HP:0003508HP:0003510Severe short stature1PIEZO2 CL E G H6389526270ORPHA:2461Marden-Walker syndromeHP:0040281 - Very frequent77
HP:0003508HP:0003510Severe short stature1PIK3R1 CL E G H52958979ORPHA:3163SHORT syndromeHP:0040281 - Very frequent43
HP:0003508HP:0003510Severe short stature1PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0003508HP:0003510Severe short stature1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0003508HP:0003502Mild short stature1PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent134
HP:0003508HP:0003510Severe short stature1PTCD3 CL E G H5503724717OMIM:619057COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0003508HP:0003510Severe short stature1PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040281 - Very frequent6
HP:0003508HP:0003510Severe short stature1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.HP:0003593 - Infantile onset58
HP:0003508HP:0003510Severe short stature1PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent53
HP:0003508HP:0003510Severe short stature1RMRP CL E G H602310031OMIM:607095Anauxetic dysplasia37
HP:0003508HP:0003510Severe short stature1RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0003508HP:0003510Severe short stature1RPL13 CL E G H613710303OMIM:618728SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE; SEMDIST
HP:0003508HP:0003510Severe short stature1RTTN CL E G H2591418654ORPHA:468631Microcephalic cortical malformations-short stature due to RTTN deficiencyHP:0040282 - Frequent113
HP:0003508HP:0003502Mild short stature1RTTN CL E G H2591418654OMIM:614833Microcephaly, short stature, and polymicrogyria with or without seizures.113
HP:0003508HP:0008848Moderately short stature1RUNX2 CL E G H86010472OMIM:119600Cleidocranial dysplasia.90
HP:0003508HP:0003510Severe short stature1SALL4 CL E G H5716715924ORPHA:2307IVIC syndromeHP:0040281 - Very frequent86
HP:0003508HP:0003510Severe short stature1SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0003508HP:0003510Severe short stature1SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0003508HP:0003510Severe short stature1SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0003508HP:0003510Severe short stature1SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0003508HP:0008848Moderately short stature1SELENOI CL E G H8546529361ORPHA:506353Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunctionHP:0040280 - Obligate
HP:0003508HP:0003510Severe short stature1SGMS2 CL E G H16692928395OMIM:126550Calvarial doughnut lesions with bone fragilityHP:0040284 - Very rare
HP:0003508HP:0003510Severe short stature1SHOX CL E G H647310853ORPHA:2632Langer mesomelic dysplasiaHP:0040281 - Very frequent66
HP:0003508HP:0003510Severe short stature1SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0003508HP:0003510Severe short stature1SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0003508HP:0008848Moderately short stature1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040282 - Frequent166
HP:0003508HP:0008848Moderately short stature1SLC39A13 CL E G H9125220859OMIM:612350Ehlers-Danlos syndrome, spondylodysplastic type, 3.24
HP:0003508HP:0008848Moderately short stature1SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24
HP:0003508HP:0003510Severe short stature1SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040281 - Very frequent504
HP:0003508HP:0003510Severe short stature1SMARCA2 CL E G H659511098ORPHA:3051Nicolaides-Baraitser syndromeHP:0040282 - Frequent146
HP:0003508HP:0003502Mild short stature1SMARCA2 CL E G H659511098OMIM:601358Nicolaides-Baraitser syndrome146
HP:0003508HP:0003510Severe short stature1STAT5B CL E G H677711367OMIM:245590GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY12
HP:0003508HP:0003510Severe short stature1TBX6 CL E G H691111605ORPHA:1797Autosomal dominant spondylocostal dysostosisHP:0040281 - Very frequent19
HP:0003508HP:0003510Severe short stature1TBX6 CL E G H691111605OMIM:122600Spondylocostal dysostosis 5.19
HP:0003508HP:0003510Severe short stature1TCTN3 CL E G H2612324519ORPHA:2753Orofaciodigital syndrome type 4HP:0040281 - Very frequent31
HP:0003508HP:0003510Severe short stature1TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0003508HP:0003510Severe short stature1TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0003508HP:0003510Severe short stature1TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0003508HP:0003510Severe short stature1TRPV4 CL E G H5934118083OMIM:168400Parastremmatic dwarfism.214
HP:0003508HP:0003510Severe short stature1TRPV4 CL E G H5934118083ORPHA:93314Spondylometaphyseal dysplasia, Kozlowski typeHP:0040282 - Frequent214
HP:0003508HP:0003510Severe short stature1WNT5A CL E G H747412784ORPHA:3107Autosomal dominant Robinow syndromeHP:0040282 - Frequent98
HP:0003508HP:0003510Severe short stature1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0003508HP:0003510Severe short stature1XYLT1 CL E G H6413115516ORPHA:1425Desbuquois syndromeHP:0040281 - Very frequent14


Genes (136) :ACAN ADAMTS10 ADAMTS2 ADAMTSL2 ALDH18A1 AMER1 ANTXR2 ARSL ATP11A ATR B3GALT6 BRAF BRF1 CAMK2G CANT1 CDC45 CDC6 CDT1 CENPT CHST11 CKAP2L COL10A1 COL1A1 COL1A2 COL2A1 COL9A2 COL9A3 COMP COX7B CRIPT CSGALNACT1 CTNNB1 CTSA DDRGK1 DHCR24 DLL3 DLX5 DNMT3A DOCK3 DVL1 DVL3 DYM EPRS1 ERCC4 ERCC6 ESCO2 EVC EVC2 FAM111A FBN1 FGD1 FGFR1 FGFR3 FLNB FZD2 GH1 GHR GHRHR GLB1 GMNN GORAB HADH HCCS HHAT HOXD13 HSPA9 HSPG2 IDS INPP5K INPPL1 KAT6B KIF11 LARP7 LBR LTBP3 LYSET MAP3K7 MATN3 MBTPS2 MESP2 MIA3 NDUFB11 NEPRO NIN NPR2 NSMCE2 OBSL1 ORC1 ORC4 ORC6 PCYT1A PDE4D PEX7 PIEZO2 PIK3R1 PNPLA6 POLE PPP1R15B PRKAR1A PTCD3 PTDSS1 PTH1R PYCR1 RMRP RNU4ATAC RPL13 RTTN RUNX2 SALL4 SCNN1A SCNN1B SCNN1G SDHA SDHAF1 SDHB SDHD SELENOI SGMS2 SHOX SIL1 SLC26A2 SLC39A13 SMAD4 SMARCA2 SON STAT5B TBCE TBX6 TCTN3 TKT TRIP11 TRMT10A TRPV4 WNT5A XYLT1 ZBTB18

Diseases (136) :OMIM:608361 ORPHA:93283 OMIM:277600 ORPHA:1901 OMIM:219150 ORPHA:2780 ORPHA:2176 ORPHA:79345 OMIM:619851 OMIM:210600 OMIM:271640 ORPHA:54595 ORPHA:444072 OMIM:618522 OMIM:251450 ORPHA:1425 OMIM:617719 ORPHA:2554 OMIM:618702 OMIM:618167 ORPHA:3255 OMIM:156500 ORPHA:1899 OMIM:130060 OMIM:184250 ORPHA:93316 OMIM:600204 OMIM:600969 OMIM:132400 ORPHA:2556 OMIM:615789 OMIM:256540 ORPHA:93352 ORPHA:35107 OMIM:277300 OMIM:220600 OMIM:618724 ORPHA:404443 OMIM:618292 ORPHA:3107 ORPHA:239 OMIM:617951 OMIM:610965 OMIM:133540 OMIM:278800 ORPHA:2319 ORPHA:952 OMIM:193530 OMIM:127000 OMIM:102370 ORPHA:969 OMIM:608328 OMIM:305400 ORPHA:2645 OMIM:616482 OMIM:112310 OMIM:262400 OMIM:173100 OMIM:262500 ORPHA:633 OMIM:618157 OMIM:230500 OMIM:616835 ORPHA:2078 OMIM:231070 ORPHA:71212 ORPHA:1422 OMIM:600092 OMIM:113300 OMIM:616854 ORPHA:1865 OMIM:309900 ORPHA:559 ORPHA:2746 ORPHA:3047 ORPHA:2526 OMIM:615071 OMIM:169400 OMIM:618019 OMIM:619345 ORPHA:3238 ORPHA:93311 ORPHA:2273 OMIM:301014 OMIM:619269 OMIM:618853 OMIM:614851 OMIM:616255 OMIM:617253 OMIM:612921 ORPHA:85167 OMIM:614613 ORPHA:280651 OMIM:215100 ORPHA:2461 ORPHA:3163 OMIM:275400 OMIM:618336 ORPHA:391408 OMIM:619057 ORPHA:2658 OMIM:156400 OMIM:607095 ORPHA:2636 OMIM:618728 ORPHA:468631 OMIM:614833 OMIM:119600 ORPHA:2307 ORPHA:171876 ORPHA:3208 ORPHA:506353 OMIM:126550 ORPHA:2632 ORPHA:93298 ORPHA:93307 OMIM:612350 ORPHA:157965 ORPHA:2588 ORPHA:3051 OMIM:601358 ORPHA:500150 OMIM:245590 OMIM:244460 ORPHA:1797 OMIM:122600 ORPHA:2753 OMIM:617044 ORPHA:488618 ORPHA:93299 ORPHA:2635 OMIM:156530 OMIM:168400 ORPHA:93314 OMIM:615777 OMIM:612337
 

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