Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skeletal system (HP:0000924)help
Parent Node:
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Abnormal skeletal morphology (HP:0011842)help
..Starting node
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Skeletal dysplasia (HP:0002652)help
Term ID: 2652
Name: Skeletal dysplasia
Synonym: Abnormal skeletal development
Definition: A general term describing features characterized by abnormal development of bones and connective tissues.
Comments:
Reference: HP:0002652
Genes and Diseases:
 
       Child Nodes:
........expandSpondyloepimetaphyseal dysplasia (HP:0002651) help
........expandMultiple epiphyseal dysplasia (HP:0002654) help
........expandSpondyloepiphyseal dysplasia (HP:0002655) help
........expandEpiphyseal dysplasia (HP:0002656) help
........expandSpondylometaphyseal dysplasia (HP:0002657) help
........expandLethal skeletal dysplasia (HP:0005716) help
........expandMultiple skeletal anomalies (HP:0005775) help
........expandDiaphyseal dysplasia (HP:0100252) help
........expandMetaphyseal dysplasia (HP:0100255) help
................... HP:0005871 Metaphyseal chondrodysplasia

 Sister Nodes: 
..expandAbnormal appendicular skeleton morphology (HP:0011844) help
..expandAbnormal axial skeleton morphology (HP:0009121) help
..expandAbnormal bone structure (HP:0003330) help
..expandAbnormal cartilage morphology (HP:0002763) help
..expandAbnormal growth plate morphology (HP:0025368) help
..expandAbnormal hyoid bone morphology (HP:3000052) help
..expandAbnormal joint morphology (HP:0001367) help
..expandAbnormal mandibular symphysis morphology (HP:3000079) help
..expandAbnormal synovial bursa morphology (HP:0025231) help
..expandAbnormal tendon morphology (HP:0100261) help
..expandAplasia/hypoplasia involving the skeleton (HP:0009115) help
..expandDysostosis multiplex (HP:0000943) help
..expandHyperostosis (HP:0100774) help
..expandHyperplastic callus formation (HP:0030268) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandobsolete Abnormality of cartilage morphology (HP:0410007) 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:0002652HP:0002652Skeletal dysplasia0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0002652HP:0002652Skeletal dysplasia0ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type34
HP:0002652HP:0002652Skeletal dysplasia0ACAN CL E G H176319OMIM:608361Spondyloepiphyseal dysplasia, Kimberley type34
HP:0002652HP:0002652Skeletal dysplasia0ACAN CL E G H176319ORPHA:93283Spondyloepiphyseal dysplasia, Kimberley type34
HP:0002652HP:0002652Skeletal dysplasia0ACP5 CL E G H54124ORPHA:1855Spondyloenchondrodysplasia16
HP:0002652HP:0002652Skeletal dysplasia0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0002652HP:0002652Skeletal dysplasia0ACTB CL E G H60132ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent72
HP:0002652HP:0002652Skeletal dysplasia0ACTG1 CL E G H71144ORPHA:2995Baraitser-Winter cerebrofrontofacial syndromeHP:0040281 - Very frequent123
HP:0002652HP:0002652Skeletal dysplasia0AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0002652HP:0002652Skeletal dysplasia0AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration60
HP:0002652HP:0002652Skeletal dysplasia0AKT1 CL E G H207391ORPHA:744Proteus syndromeHP:0040281 - Very frequent54
HP:0002652HP:0002652Skeletal dysplasia0ALDH3A2 CL E G H224403ORPHA:816Sjögren-Larsson syndromeHP:0040281 - Very frequent87
HP:0002652HP:0002652Skeletal dysplasia0ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0002652HP:0002652Skeletal dysplasia0ALG6 CL E G H2992923157ORPHA:79320ALG6-CDGHP:0040283 - Occasional66
HP:0002652HP:0002652Skeletal dysplasia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040282 - Frequent93
HP:0002652HP:0002652Skeletal dysplasia0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il.93
HP:0002652HP:0002652Skeletal dysplasia0ALG9 CL E G H7979615672OMIM:263210Gillessen-Kaesbach-Nishimura syndrome.93
HP:0002652HP:0002652Skeletal dysplasia0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 12
HP:0002652HP:0002652Skeletal dysplasia0ANKH CL E G H5617215492ORPHA:1522Craniometaphyseal dysplasiaHP:0040282 - Frequent164
HP:0002652HP:0002652Skeletal dysplasia0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040283 - Occasional65
HP:0002652HP:0002652Skeletal dysplasia0ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI120
HP:0002652HP:0002652Skeletal dysplasia0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome38
HP:0002652HP:0002652Skeletal dysplasia0B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 238
HP:0002652HP:0002652Skeletal dysplasia0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures38
HP:0002652HP:0002652Skeletal dysplasia0B4GALT7 CL E G H11285930ORPHA:75496B4GALT7-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent29
HP:0002652HP:0002652Skeletal dysplasia0BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked7
HP:0002652HP:0002652Skeletal dysplasia0BMPR1B CL E G H6581077ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent90
HP:0002652HP:0002652Skeletal dysplasia0CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0002652HP:0002652Skeletal dysplasia0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0002652HP:0002652Skeletal dysplasia0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0002652HP:0002652Skeletal dysplasia0CDH3 CL E G H10011762ORPHA:1573Hypotrichosis with juvenile macular degenerationHP:0040283 - Occasional87
HP:0002652HP:0002652Skeletal dysplasia0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndrome114
HP:0002652HP:0002652Skeletal dysplasia0CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies114
HP:0002652HP:0002652Skeletal dysplasia0CEP120 CL E G H15324126690ORPHA:474Jeune syndromeHP:0040281 - Very frequent7
HP:0002652HP:0002652Skeletal dysplasia0CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial
HP:0002652HP:0002652Skeletal dysplasia0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040283 - Occasional515
HP:0002652HP:0002652Skeletal dysplasia0CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations165
HP:0002652HP:0002652Skeletal dysplasia0COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0002652HP:0002652Skeletal dysplasia0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndrome215
HP:0002652HP:0002652Skeletal dysplasia0COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II215
HP:0002652HP:0002652Skeletal dysplasia0COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia222
HP:0002652HP:0002652Skeletal dysplasia0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasia222
HP:0002652HP:0002652Skeletal dysplasia0COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III222
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200ORPHA:93296Achondrogenesis type 2HP:0040282 - Frequent284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200ORPHA:85198Dysspondyloenchondromatosis284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton type284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200ORPHA:85166Platyspondylic dysplasia, Torrance typeHP:0040281 - Very frequent284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:616583Spondyloepiphyseal dysplasia, Stanescu type284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt type284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200ORPHA:90653Stickler syndrome type 1HP:0040281 - Very frequent284
HP:0002652HP:0002652Skeletal dysplasia0COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I284
HP:0002652HP:0002652Skeletal dysplasia0COL3A1 CL E G H12812201ORPHA:2500AcrogeriaHP:0040283 - Occasional749
HP:0002652HP:0002652Skeletal dysplasia0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndrome110
HP:0002652HP:0002652Skeletal dysplasia0COL9A1 CL E G H12972217OMIM:614135Epiphyseal dysplasia, multiple, 6110
HP:0002652HP:0002652Skeletal dysplasia0COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0002652HP:0002652Skeletal dysplasia0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndrome110
HP:0002652HP:0002652Skeletal dysplasia0COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2110
HP:0002652HP:0002652Skeletal dysplasia0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndrome137
HP:0002652HP:0002652Skeletal dysplasia0COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy137
HP:0002652HP:0002652Skeletal dysplasia0COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 189
HP:0002652HP:0002652Skeletal dysplasia0CTSA CL E G H54769251ORPHA:351GalactosialidosisHP:0040281 - Very frequent51
HP:0002652HP:0002652Skeletal dysplasia0CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0002652HP:0002652Skeletal dysplasia0CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies4
HP:0002652HP:0002652Skeletal dysplasia0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040283 - Occasional36
HP:0002652HP:0002652Skeletal dysplasia0DCHS1 CL E G H864213681OMIM:601390Van maldergem syndrome 1.27
HP:0002652HP:0002652Skeletal dysplasia0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0002652HP:0002652Skeletal dysplasia0DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002652HP:0002652Skeletal dysplasia0DMP1 CL E G H17582932ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent48
HP:0002652HP:0002652Skeletal dysplasia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 35
HP:0002652HP:0002652Skeletal dysplasia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0002652HP:0002652Skeletal dysplasia0DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0002652HP:0002652Skeletal dysplasia0DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiency144
HP:0002652HP:0002652Skeletal dysplasia0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0002652HP:0002652Skeletal dysplasia0DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0002652HP:0002652Skeletal dysplasia0DYNC2H1 CL E G H796592962ORPHA:474Jeune syndromeHP:0040281 - Very frequent304
HP:0002652HP:0002652Skeletal dysplasia0DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type304
HP:0002652HP:0002652Skeletal dysplasia0DYNC2I1 CL E G H5511221862ORPHA:474Jeune syndromeHP:0040281 - Very frequent
HP:0002652HP:0002652Skeletal dysplasia0DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002652HP:0002652Skeletal dysplasia0DYNC2I2 CL E G H8989128296ORPHA:474Jeune syndromeHP:0040281 - Very frequent
HP:0002652HP:0002652Skeletal dysplasia0DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002652HP:0002652Skeletal dysplasia0DYNC2LI1 CL E G H5162624595ORPHA:474Jeune syndromeHP:0040281 - Very frequent7
HP:0002652HP:0002652Skeletal dysplasia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0002652HP:0002652Skeletal dysplasia0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus65
HP:0002652HP:0002652Skeletal dysplasia0EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040281 - Very frequent65
HP:0002652HP:0002652Skeletal dysplasia0ENPP1 CL E G H51673356ORPHA:289176Autosomal recessive hypophosphatemic ricketsHP:0040281 - Very frequent151
HP:0002652HP:0002652Skeletal dysplasia0EPCAM CL E G H407211529ORPHA:92050Congenital tufting enteropathyHP:0040284 - Very rare170
HP:0002652HP:0002652Skeletal dysplasia0EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 33
HP:0002652HP:0002652Skeletal dysplasia0EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities3
HP:0002652HP:0002652Skeletal dysplasia0FAT4 CL E G H7963323109OMIM:615546Van maldergem syndrome 2.114
HP:0002652HP:0002652Skeletal dysplasia0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040283 - Occasional2
HP:0002652HP:0002652Skeletal dysplasia0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040283 - Occasional3
HP:0002652HP:0002652Skeletal dysplasia0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040283 - Occasional17
HP:0002652HP:0002652Skeletal dysplasia0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040283 - Occasional172
HP:0002652HP:0002652Skeletal dysplasia0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040283 - Occasional172
HP:0002652HP:0002652Skeletal dysplasia0FGFR3 CL E G H22613690ORPHA:429HypochondroplasiaHP:0040281 - Very frequent145
HP:0002652HP:0002652Skeletal dysplasia0FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome145
HP:0002652HP:0002652Skeletal dysplasia0FGFR3 CL E G H22613690ORPHA:1860Thanatophoric dysplasia type 1HP:0040281 - Very frequent145
HP:0002652HP:0002652Skeletal dysplasia0FGFR3 CL E G H22613690ORPHA:93274Thanatophoric dysplasia type 2HP:0040281 - Very frequent145
HP:0002652HP:0002652Skeletal dysplasia0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent493
HP:0002652HP:0002652Skeletal dysplasia0FLNA CL E G H23163754ORPHA:90650Otopalatodigital syndrome type 1HP:0040281 - Very frequent493
HP:0002652HP:0002652Skeletal dysplasia0FLNA CL E G H23163754ORPHA:90652Otopalatodigital syndrome type 2HP:0040281 - Very frequent493
HP:0002652HP:0002652Skeletal dysplasia0FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome233
HP:0002652HP:0002652Skeletal dysplasia0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040283 - Occasional4
HP:0002652HP:0002652Skeletal dysplasia0FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type9
HP:0002652HP:0002652Skeletal dysplasia0GDF5 CL E G H82004220ORPHA:2098Acromesomelic dysplasia, Grebe typeHP:0040281 - Very frequent52
HP:0002652HP:0002652Skeletal dysplasia0GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0002652HP:0002652Skeletal dysplasia0GJA1 CL E G H26974274ORPHA:1522Craniometaphyseal dysplasiaHP:0040282 - Frequent68
HP:0002652HP:0002652Skeletal dysplasia0GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive68
HP:0002652HP:0002652Skeletal dysplasia0GLB1 CL E G H27204298ORPHA:79255GM1 gangliosidosis type 1HP:0040282 - Frequent120
HP:0002652HP:0002652Skeletal dysplasia0GLI3 CL E G H27374319ORPHA:672Pallister-Hall syndromeHP:0040282 - Frequent270
HP:0002652HP:0002652Skeletal dysplasia0GNAS CL E G H27784392ORPHA:57782Mazabraud syndromeHP:0040283 - Occasional101
HP:0002652HP:0002652Skeletal dysplasia0GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0002652HP:0002652Skeletal dysplasia0GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0002652HP:0002652Skeletal dysplasia0GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0002652HP:0002652Skeletal dysplasia0HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0002652HP:0002652Skeletal dysplasia0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040283 - Occasional21
HP:0002652HP:0002652Skeletal dysplasia0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040283 - Occasional8
HP:0002652HP:0002652Skeletal dysplasia0HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0002652HP:0002652Skeletal dysplasia0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040281 - Very frequent345
HP:0002652HP:0002652Skeletal dysplasia0IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0002652HP:0002652Skeletal dysplasia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0002652HP:0002652Skeletal dysplasia0IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002652HP:0002652Skeletal dysplasia0IDUA CL E G H34255391ORPHA:93473Hurler syndromeHP:0040281 - Very frequent115
HP:0002652HP:0002652Skeletal dysplasia0IDUA CL E G H34255391ORPHA:93476Hurler-Scheie syndromeHP:0040281 - Very frequent115
HP:0002652HP:0002652Skeletal dysplasia0IFT140 CL E G H974229077ORPHA:474Jeune syndromeHP:0040281 - Very frequent148
HP:0002652HP:0002652Skeletal dysplasia0IFT172 CL E G H2616030391ORPHA:474Jeune syndromeHP:0040281 - Very frequent48
HP:0002652HP:0002652Skeletal dysplasia0IFT80 CL E G H5756029262ORPHA:474Jeune syndromeHP:0040281 - Very frequent65
HP:0002652HP:0002652Skeletal dysplasia0IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type65
HP:0002652HP:0002652Skeletal dysplasia0IHH CL E G H35495956ORPHA:63446Acrocapitofemoral dysplasiaHP:0040281 - Very frequent44
HP:0002652HP:0002652Skeletal dysplasia0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0002652HP:0002652Skeletal dysplasia0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040283 - Occasional283
HP:0002652HP:0002652Skeletal dysplasia0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040283 - Occasional283
HP:0002652HP:0002652Skeletal dysplasia0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0002652HP:0002652Skeletal dysplasia0KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 214
HP:0002652HP:0002652Skeletal dysplasia0KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040281 - Very frequent14
HP:0002652HP:0002652Skeletal dysplasia0KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0002652HP:0002652Skeletal dysplasia0KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali type167
HP:0002652HP:0002652Skeletal dysplasia0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040283 - Occasional196
HP:0002652HP:0002652Skeletal dysplasia0LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0002652HP:0002652Skeletal dysplasia0LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0002652HP:0002652Skeletal dysplasia0LEMD3 CL E G H2359228887ORPHA:1306Buschke-Ollendorff syndromeHP:0040281 - Very frequent68
HP:0002652HP:0002652Skeletal dysplasia0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040281 - Very frequent144
HP:0002652HP:0002652Skeletal dysplasia0LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0002652HP:0002652Skeletal dysplasia0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndrome4
HP:0002652HP:0002652Skeletal dysplasia0LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia1
HP:0002652HP:0002652Skeletal dysplasia0LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 312
HP:0002652HP:0002652Skeletal dysplasia0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040281 - Very frequent11
HP:0002652HP:0002652Skeletal dysplasia0MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0002652HP:0002652Skeletal dysplasia0MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related32
HP:0002652HP:0002652Skeletal dysplasia0MBTPS1 CL E G H872015456OMIM:618392Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0002652HP:0002652Skeletal dysplasia0MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type52
HP:0002652HP:0002652Skeletal dysplasia0MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr type52
HP:0002652HP:0002652Skeletal dysplasia0MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type52
HP:0002652HP:0002652Skeletal dysplasia0NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type8
HP:0002652HP:0002652Skeletal dysplasia0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040283 - Occasional
HP:0002652HP:0002652Skeletal dysplasia0NEU1 CL E G H47587758ORPHA:812Sialidosis type 1HP:0040281 - Very frequent43
HP:0002652HP:0002652Skeletal dysplasia0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0002652HP:0002652Skeletal dysplasia0NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia10
HP:0002652HP:0002652Skeletal dysplasia0NLRP3 CL E G H11454816400ORPHA:1451CINCA syndromeHP:0040282 - Frequent217
HP:0002652HP:0002652Skeletal dysplasia0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002652HP:0002652Skeletal dysplasia0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0002652HP:0002652Skeletal dysplasia0NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type53
HP:0002652HP:0002652Skeletal dysplasia0P4HB CL E G H50348548ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent2
HP:0002652HP:0002652Skeletal dysplasia0PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type1
HP:0002652HP:0002652Skeletal dysplasia0PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes20
HP:0002652HP:0002652Skeletal dysplasia0PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy11
HP:0002652HP:0002652Skeletal dysplasia0PERCC1 CL E G H10537104552293ORPHA:92050Congenital tufting enteropathyHP:0040284 - Very rare
HP:0002652HP:0002652Skeletal dysplasia0PEX1 CL E G H51898850ORPHA:912Zellweger syndromeHP:0040281 - Very frequent169
HP:0002652HP:0002652Skeletal dysplasia0PEX10 CL E G H51928851ORPHA:912Zellweger syndromeHP:0040281 - Very frequent75
HP:0002652HP:0002652Skeletal dysplasia0PEX11B CL E G H87998853ORPHA:912Zellweger syndromeHP:0040281 - Very frequent4
HP:0002652HP:0002652Skeletal dysplasia0PEX12 CL E G H51938854ORPHA:912Zellweger syndromeHP:0040281 - Very frequent65
HP:0002652HP:0002652Skeletal dysplasia0PEX13 CL E G H51948855ORPHA:912Zellweger syndromeHP:0040281 - Very frequent66
HP:0002652HP:0002652Skeletal dysplasia0PEX14 CL E G H51958856ORPHA:912Zellweger syndromeHP:0040281 - Very frequent46
HP:0002652HP:0002652Skeletal dysplasia0PEX16 CL E G H94098857ORPHA:912Zellweger syndromeHP:0040281 - Very frequent59
HP:0002652HP:0002652Skeletal dysplasia0PEX19 CL E G H58249713ORPHA:912Zellweger syndromeHP:0040281 - Very frequent62
HP:0002652HP:0002652Skeletal dysplasia0PEX2 CL E G H58289717ORPHA:912Zellweger syndromeHP:0040281 - Very frequent82
HP:0002652HP:0002652Skeletal dysplasia0PEX26 CL E G H5567022965ORPHA:912Zellweger syndromeHP:0040281 - Very frequent106
HP:0002652HP:0002652Skeletal dysplasia0PEX3 CL E G H85048858ORPHA:912Zellweger syndromeHP:0040281 - Very frequent47
HP:0002652HP:0002652Skeletal dysplasia0PEX5 CL E G H58309719ORPHA:912Zellweger syndromeHP:0040281 - Very frequent99
HP:0002652HP:0002652Skeletal dysplasia0PEX6 CL E G H51908859ORPHA:912Zellweger syndromeHP:0040281 - Very frequent98
HP:0002652HP:0002652Skeletal dysplasia0PEX7 CL E G H51918860ORPHA:773Refsum diseaseHP:0040281 - Very frequent72
HP:0002652HP:0002652Skeletal dysplasia0PEX7 CL E G H51918860OMIM:266500Refsum disease72
HP:0002652HP:0002652Skeletal dysplasia0PHYH CL E G H52648940OMIM:266500Refsum disease45
HP:0002652HP:0002652Skeletal dysplasia0PHYH CL E G H52648940ORPHA:773Refsum diseaseHP:0040281 - Very frequent45
HP:0002652HP:0002652Skeletal dysplasia0PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndrome
HP:0002652HP:0002652Skeletal dysplasia0POLE CL E G H54269177ORPHA:85173IMAGe syndrome1129
HP:0002652HP:0002652Skeletal dysplasia0POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency1129
HP:0002652HP:0002652Skeletal dysplasia0POLR1B CL E G H8417220454ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent
HP:0002652HP:0002652Skeletal dysplasia0POLR1C CL E G H953320194ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent38
HP:0002652HP:0002652Skeletal dysplasia0POLR1D CL E G H5108220422ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent31
HP:0002652HP:0002652Skeletal dysplasia0POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 26
HP:0002652HP:0002652Skeletal dysplasia0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040283 - Occasional9
HP:0002652HP:0002652Skeletal dysplasia0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0002652HP:0002652Skeletal dysplasia0PTEN CL E G H57289588ORPHA:744Proteus syndromeHP:0040281 - Very frequent948
HP:0002652HP:0002652Skeletal dysplasia0PTEN CL E G H57289588ORPHA:2969Proteus-like syndromeHP:0040283 - Occasional948
HP:0002652HP:0002652Skeletal dysplasia0PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasia58
HP:0002652HP:0002652Skeletal dysplasia0PTH1R CL E G H57459608ORPHA:79106Eiken syndrome58
HP:0002652HP:0002652Skeletal dysplasia0PTH1R CL E G H57459608OMIM:600002Eiken syndrome58
HP:0002652HP:0002652Skeletal dysplasia0PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0002652HP:0002652Skeletal dysplasia0RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2445
HP:0002652HP:0002652Skeletal dysplasia0RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia37
HP:0002652HP:0002652Skeletal dysplasia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0002652HP:0002652Skeletal dysplasia0RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis37
HP:0002652HP:0002652Skeletal dysplasia0RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0002652HP:0002652Skeletal dysplasia0RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndrome15
HP:0002652HP:0002652Skeletal dysplasia0RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome15
HP:0002652HP:0002652Skeletal dysplasia0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0002652HP:0002652Skeletal dysplasia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002652HP:0002652Skeletal dysplasia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0002652HP:0002652Skeletal dysplasia0RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome2
HP:0002652HP:0002652Skeletal dysplasia0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040281 - Very frequent90
HP:0002652HP:0002652Skeletal dysplasia0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0002652HP:0002652Skeletal dysplasia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0002652HP:0002652Skeletal dysplasia0SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0002652HP:0002652Skeletal dysplasia0SEC23A CL E G H1048410701ORPHA:50814Craniolenticulosutural dysplasiaHP:0040281 - Very frequent2
HP:0002652HP:0002652Skeletal dysplasia0SEC24D CL E G H987110706ORPHA:2050Cole-Carpenter syndromeHP:0040281 - Very frequent5
HP:0002652HP:0002652Skeletal dysplasia0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040283 - Occasional14
HP:0002652HP:0002652Skeletal dysplasia0SF3B4 CL E G H1026210771ORPHA:245Nager syndromeHP:0040281 - Very frequent49
HP:0002652HP:0002652Skeletal dysplasia0SFRP4 CL E G H642410778OMIM:265900Pyle disease3
HP:0002652HP:0002652Skeletal dysplasia0SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1B166
HP:0002652HP:0002652Skeletal dysplasia0SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4166
HP:0002652HP:0002652Skeletal dysplasia0SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040281 - Very frequent166
HP:0002652HP:0002652Skeletal dysplasia0SLC39A13 CL E G H9125220859ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent24
HP:0002652HP:0002652Skeletal dysplasia0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type74
HP:0002652HP:0002652Skeletal dysplasia0SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasia74
HP:0002652HP:0002652Skeletal dysplasia0SMO CL E G H660811119OMIM:241800Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included.22
HP:0002652HP:0002652Skeletal dysplasia0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040283 - Occasional61
HP:0002652HP:0002652Skeletal dysplasia0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040283 - Occasional5
HP:0002652HP:0002652Skeletal dysplasia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0002652HP:0002652Skeletal dysplasia0SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0002652HP:0002652Skeletal dysplasia0STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch14
HP:0002652HP:0002652Skeletal dysplasia0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040283 - Occasional34
HP:0002652HP:0002652Skeletal dysplasia0TBXAS1 CL E G H691611609OMIM:231095Ghosal hematodiaphyseal dysplasia16
HP:0002652HP:0002652Skeletal dysplasia0TCOF1 CL E G H694911654ORPHA:861Treacher-Collins syndromeHP:0040281 - Very frequent140
HP:0002652HP:0002652Skeletal dysplasia0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040281 - Very frequent13
HP:0002652HP:0002652Skeletal dysplasia0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK24
HP:0002652HP:0002652Skeletal dysplasia0TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002652HP:0002652Skeletal dysplasia0TMEM67 CL E G H9114728396ORPHA:140976RHYNS syndromeHP:0040282 - Frequent166
HP:0002652HP:0002652Skeletal dysplasia0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0002652HP:0002652Skeletal dysplasia0TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002652HP:0002652Skeletal dysplasia0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0002652HP:0002652Skeletal dysplasia0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked46
HP:0002652HP:0002652Skeletal dysplasia0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent31
HP:0002652HP:0002652Skeletal dysplasia0TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1A133
HP:0002652HP:0002652Skeletal dysplasia0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0002652HP:0002652Skeletal dysplasia0TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia214
HP:0002652HP:0002652Skeletal dysplasia0TRPV4 CL E G H5934118083ORPHA:2635Metatropic dysplasiaHP:0040281 - Very frequent214
HP:0002652HP:0002652Skeletal dysplasia0TRPV4 CL E G H5934118083OMIM:184095Spondyloepiphyseal dysplasia, Maroteaux type214
HP:0002652HP:0002652Skeletal dysplasia0TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type214
HP:0002652HP:0002652Skeletal dysplasia0TTC21B CL E G H7980925660ORPHA:474Jeune syndromeHP:0040281 - Very frequent132
HP:0002652HP:0002652Skeletal dysplasia0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040281 - Very frequent22
HP:0002652HP:0002652Skeletal dysplasia0UFSP2 CL E G H5532525640OMIM:617974Spondyloepimetaphyseal dysplasia, DI Rocco type2
HP:0002652HP:0002652Skeletal dysplasia0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0002652HP:0002652Skeletal dysplasia0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040283 - Occasional10
HP:0002652HP:0002652Skeletal dysplasia0WDR19 CL E G H5772818340ORPHA:474Jeune syndromeHP:0040281 - Very frequent95
HP:0002652HP:0002652Skeletal dysplasia0WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff type136
HP:0002652HP:0002652Skeletal dysplasia0XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1ACAN CL E G H176319OMIM:612813Spondyloepimetaphyseal dysplasia, Aggrecan type.34
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1ACAN CL E G H176319ORPHA:93283Spondyloepiphyseal dysplasia, Kimberley typeHP:0040281 - Very frequent34
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1ACAN CL E G H176319OMIM:608361Spondyloepiphyseal dysplasia, Kimberley type.34
HP:0002652HP:0100255Metaphyseal dysplasia1ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040281 - Very frequent16
HP:0002652HP:0002657Spondylometaphyseal dysplasia1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation.16
HP:0002652HP:0100255Metaphyseal dysplasia1ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0002652HP:0100255Metaphyseal dysplasia1AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome60
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1AIFM1 CL E G H91318768OMIM:300232Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration.60
HP:0002652HP:0100255Metaphyseal dysplasia1ALG3 CL E G H1019523056ORPHA:79321ALG3-CDG37
HP:0002652HP:0005775Multiple skeletal anomalies1ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040282 - Frequent2
HP:0002652HP:0002656Epiphyseal dysplasia1ARSB CL E G H411714OMIM:253200Mucopolysaccharidosis, type VI.120
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040281 - Very frequent38
HP:0002652HP:0002656Epiphyseal dysplasia1B3GALT6 CL E G H12679217978OMIM:615349Ehlers-Danlos syndrome, spondylodysplastic type, 2.38
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0002652HP:0002656Epiphyseal dysplasia1B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1BGN CL E G H6331044OMIM:300106Spondyloepimetaphyseal dysplasia, X-linked.7
HP:0002652HP:0002656Epiphyseal dysplasia1CANT1 CL E G H12458319721OMIM:617719EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM785
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040281 - Very frequent
HP:0002652HP:0100255Metaphyseal dysplasia1CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0002652HP:0002656Epiphyseal dysplasia1CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0002652HP:0100255Metaphyseal dysplasia1CDKN1C CL E G H10281786OMIM:614732Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies.114
HP:0002652HP:0002657Spondylometaphyseal dysplasia1CFAP410 CL E G H7551260OMIM:602271Spondylometaphyseal dysplasia, axial.
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1CHST3 CL E G H94691971OMIM:143095Spondyloepiphyseal dysplasia with congenital joint dislocations.165
HP:0002652HP:0100255Metaphyseal dysplasia1COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type79
HP:0002652HP:0002656Epiphyseal dysplasia1COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent215
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1COL11A1 CL E G H13012186OMIM:604841Stickler syndrome, type II.215
HP:0002652HP:0002656Epiphyseal dysplasia1COL11A2 CL E G H13022187OMIM:215150Otospondylomegaepiphyseal dysplasia.222
HP:0002652HP:0002656Epiphyseal dysplasia1COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040282 - Frequent222
HP:0002652HP:0002656Epiphyseal dysplasia1COL11A2 CL E G H13022187OMIM:184840Stickler syndrome, type III.222
HP:0002652HP:0002657Spondylometaphyseal dysplasia1COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040281 - Very frequent284
HP:0002652HP:0002656Epiphyseal dysplasia1COL2A1 CL E G H12802200OMIM:132450Epiphyseal dysplasia, multiple, with myopia and conductive deafness.284
HP:0002652HP:0002654Multiple epiphyseal dysplasia1COL2A1 CL E G H12802200ORPHA:166011Multiple epiphyseal dysplasia, Beighton typeHP:0040281 - Very frequent284
HP:0002652HP:0005716Lethal skeletal dysplasia1COL2A1 CL E G H12802200OMIM:151210Platyspondylic lethal skeletal dysplasia, Torrance type.284
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1COL2A1 CL E G H12802200OMIM:184250Spondyloepimetaphyseal dysplasia, Strudwick type.284
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1COL2A1 CL E G H12802200OMIM:183900Spondyloepiphyseal dysplasia congenita284
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1COL2A1 CL E G H12802200OMIM:616583Spondyloepiphyseal dysplasia, Stanescu type.284
HP:0002652HP:0002657Spondylometaphyseal dysplasia1COL2A1 CL E G H12802200OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.284
HP:0002652HP:0100255Metaphyseal dysplasia1COL2A1 CL E G H12802200ORPHA:93316Spondylometaphyseal dysplasia, Schmidt typeHP:0040281 - Very frequent284
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1COL2A1 CL E G H12802200OMIM:271700Spondyloperipheral dysplasia.284
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1COL2A1 CL E G H12802200OMIM:108300Stickler syndrome, type I.284
HP:0002652HP:0002656Epiphyseal dysplasia1COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent110
HP:0002652HP:0002654Multiple epiphyseal dysplasia1COL9A1 CL E G H12972217OMIM:614135Epiphyseal dysplasia, multiple, 6110
HP:0002652HP:0002656Epiphyseal dysplasia1COL9A1 CL E G H12972217OMIM:614134STICKLER SYNDROME, TYPE IV; STL4110
HP:0002652HP:0002656Epiphyseal dysplasia1COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent110
HP:0002652HP:0002656Epiphyseal dysplasia1COL9A2 CL E G H12982218OMIM:600204Epiphyseal dysplasia, multiple, 2.110
HP:0002652HP:0002656Epiphyseal dysplasia1COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent137
HP:0002652HP:0002656Epiphyseal dysplasia1COL9A3 CL E G H12992219OMIM:600969Epiphyseal dysplasia, multiple, 3, with or without myopathy.137
HP:0002652HP:0002656Epiphyseal dysplasia1COMP CL E G H13112227OMIM:132400Epiphyseal dysplasia, multiple, 1.89
HP:0002652HP:0100255Metaphyseal dysplasia1CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndrome4
HP:0002652HP:0100255Metaphyseal dysplasia1CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies.4
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1DDRGK1 CL E G H6599216110OMIM:602557Spondyloepimetaphyseal dysplasia, Shohat type.
HP:0002652HP:0100255Metaphyseal dysplasia1DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3HP:0040284 - Very rare5
HP:0002652HP:0100255Metaphyseal dysplasia1DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndrome5
HP:0002652HP:0100255Metaphyseal dysplasia1DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 15
HP:0002652HP:0002656Epiphyseal dysplasia1DPYD CL E G H18063012ORPHA:1675Dihydropyrimidine dehydrogenase deficiencyHP:0040283 - Occasional144
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040281 - Very frequent65
HP:0002652HP:0100255Metaphyseal dysplasia1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0002652HP:0002656Epiphyseal dysplasia1DYM CL E G H5480821317ORPHA:239Dyggve-Melchior-Clausen diseaseHP:0040282 - Frequent65
HP:0002652HP:0005716Lethal skeletal dysplasia1DYNC2H1 CL E G H796592962ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent304
HP:0002652HP:0005716Lethal skeletal dysplasia1DYNC2I1 CL E G H5511221862ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0002652HP:0005716Lethal skeletal dysplasia1DYNC2I2 CL E G H8989128296ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent
HP:0002652HP:0100255Metaphyseal dysplasia1EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndrome1
HP:0002652HP:0002654Multiple epiphyseal dysplasia1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0002652HP:0002656Epiphyseal dysplasia1EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0002652HP:0002654Multiple epiphyseal dysplasia1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040282 - Frequent65
HP:0002652HP:0100255Metaphyseal dysplasia1EIF2AK3 CL E G H94513255ORPHA:1667Wolcott-Rallison syndromeHP:0040282 - Frequent65
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1EXOC6B CL E G H2323317085OMIM:618395Spondyloepimetaphyseal dysplasia with joint laxity, type 3.3
HP:0002652HP:0002656Epiphyseal dysplasia1EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0002652HP:0100255Metaphyseal dysplasia1EXTL3 CL E G H21373518OMIM:617425Immunoskeletal dysplasia with neurodevelopmental abnormalities.3
HP:0002652HP:0100255Metaphyseal dysplasia1FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndrome145
HP:0002652HP:0002656Epiphyseal dysplasia1FLNB CL E G H23173755OMIM:272460Spondylocarpotarsal synostosis syndrome.233
HP:0002652HP:0002657Spondylometaphyseal dysplasia1FN1 CL E G H23353778OMIM:184255Spondylometaphyseal dysplasia, corner Fracture type.9
HP:0002652HP:0002656Epiphyseal dysplasia1GEMIN4 CL E G H5062815717OMIM:617913Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities1
HP:0002652HP:0100255Metaphyseal dysplasia1GJA1 CL E G H26974274OMIM:218400Craniometaphyseal dysplasia, autosomal recessive.68
HP:0002652HP:0002656Epiphyseal dysplasia1GNS CL E G H27994422OMIM:252940Mucopolysaccharidosis, type IIID69
HP:0002652HP:0002657Spondylometaphyseal dysplasia1GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0002652HP:0002657Spondylometaphyseal dysplasia1GPX4 CL E G H28794556OMIM:250220Spondylometaphyseal dysplasia, Sedaghatian type.3
HP:0002652HP:0100255Metaphyseal dysplasia1GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian type3
HP:0002652HP:0100255Metaphyseal dysplasia1HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe type2
HP:0002652HP:0002656Epiphyseal dysplasia1HSPA9 CL E G H33135244OMIM:616854Even-Plus syndrome6
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1IARS2 CL E G H5569929685ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndromeHP:0040281 - Very frequent25
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0002652HP:0100255Metaphyseal dysplasia1IDH1 CL E G H34175382ORPHA:99646Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria15
HP:0002652HP:0005716Lethal skeletal dysplasia1IFT80 CL E G H5756029262ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent65
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1KIF22 CL E G H38356391OMIM:603546Spondyloepimetaphyseal dysplasia with joint laxity, type 2.14
HP:0002652HP:0002656Epiphyseal dysplasia1KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040281 - Very frequent14
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1KIF22 CL E G H38356391ORPHA:93360Spondyloepimetaphyseal dysplasia with multiple dislocationsHP:0040282 - Frequent14
HP:0002652HP:0002654Multiple epiphyseal dysplasia1KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome.167
HP:0002652HP:0002656Epiphyseal dysplasia1KIF7 CL E G H37465430497OMIM:607131Al-Gazali-Bakalinova syndrome167
HP:0002652HP:0002654Multiple epiphyseal dysplasia1KIF7 CL E G H37465430497ORPHA:166024Multiple epiphyseal dysplasia, Al-Gazali typeHP:0040281 - Very frequent167
HP:0002652HP:0005716Lethal skeletal dysplasia1LBR CL E G H39306518OMIM:215140Greenberg dysplasia70
HP:0002652HP:0100255Metaphyseal dysplasia1LBR CL E G H39306518OMIM:618019PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES; PHASK70
HP:0002652HP:0100255Metaphyseal dysplasia1LONP1 CL E G H93619479OMIM:600373CODAS syndrome8
HP:0002652HP:0002656Epiphyseal dysplasia1LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040281 - Very frequent4
HP:0002652HP:0100255Metaphyseal dysplasia1LRRK1 CL E G H7970518608OMIM:615198Osteosclerotic metaphyseal dysplasia.1
HP:0002652HP:0002656Epiphyseal dysplasia1LTBP3 CL E G H40546716OMIM:617809Geleophysic dysplasia 3.12
HP:0002652HP:0002656Epiphyseal dysplasia1MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 5.32
HP:0002652HP:0002654Multiple epiphyseal dysplasia1MATN3 CL E G H41486909OMIM:607078Epiphyseal dysplasia, multiple, 532
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1MATN3 CL E G H41486909OMIM:608728Spondyloepimetaphyseal dysplasia, matrilin-3 related.32
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1MBTPS1 CL E G H872015456OMIM:618392Spondyloepiphyseal dysplasia, Kondo-Fu type.
HP:0002652HP:0100255Metaphyseal dysplasia1MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040281 - Very frequent52
HP:0002652HP:0100255Metaphyseal dysplasia1MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1MMP13 CL E G H43227159OMIM:602111Spondyloepimetaphyseal dysplasia, Missouri type.52
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1NANS CL E G H5418719237OMIM:610442Spondyloepimetaphyseal dysplasia, Genevieve type.8
HP:0002652HP:0100252Diaphyseal dysplasia1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0002652HP:0100255Metaphyseal dysplasia1NKX3-2 CL E G H579951OMIM:613330Spondylo-Megaepiphyseal-Metaphyseal dysplasia.10
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0002652HP:0002656Epiphyseal dysplasia1NPR2 CL E G H48827944OMIM:615923Epiphyseal chondrodysplasia, Miura type.53
HP:0002652HP:0002657Spondylometaphyseal dysplasia1PAM16 CL E G H5102529679OMIM:613320Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type.1
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1PAPSS2 CL E G H90608604OMIM:612847Brachyolmia 4 with mild epiphyseal and metaphyseal changes.20
HP:0002652HP:0002657Spondylometaphyseal dysplasia1PCYT1A CL E G H51308754OMIM:608940Spondylometaphyseal dysplasia with cone-rod dystrophy.11
HP:0002652HP:0002654Multiple epiphyseal dysplasia1PEX7 CL E G H51918860OMIM:266500Refsum disease.72
HP:0002652HP:0002654Multiple epiphyseal dysplasia1PHYH CL E G H52648940OMIM:266500Refsum disease.45
HP:0002652HP:0100255Metaphyseal dysplasia1PIK3C2A CL E G H52868971ORPHA:557003Oculocerebrodental syndromeHP:0040283 - Occasional
HP:0002652HP:0100255Metaphyseal dysplasia1POLE CL E G H54269177ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent1129
HP:0002652HP:0100255Metaphyseal dysplasia1POLE CL E G H54269177OMIM:618336Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency.1129
HP:0002652HP:0100255Metaphyseal dysplasia1POP1 CL E G H1094030129OMIM:617396Anauxetic dysplasia 2.6
HP:0002652HP:0005716Lethal skeletal dysplasia1PTH1R CL E G H57459608ORPHA:50945Blomstrand lethal chondrodysplasiaHP:0040281 - Very frequent58
HP:0002652HP:0002656Epiphyseal dysplasia1PTH1R CL E G H57459608ORPHA:79106Eiken syndromeHP:0040281 - Very frequent58
HP:0002652HP:0100255Metaphyseal dysplasia1PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type58
HP:0002652HP:0005775Multiple skeletal anomalies1RECQL4 CL E G H94019949ORPHA:221016Rothmund-Thomson syndrome type 2HP:0040282 - Frequent445
HP:0002652HP:0100255Metaphyseal dysplasia1RMRP CL E G H602310031OMIM:250250Cartilage-Hair hypoplasia.37
HP:0002652HP:0100255Metaphyseal dysplasia1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0002652HP:0100255Metaphyseal dysplasia1RMRP CL E G H602310031OMIM:250460Metaphyseal dysplasia without hypotrichosis.37
HP:0002652HP:0002654Multiple epiphyseal dysplasia1RNU4ATAC CL E G H10015168334016OMIM:226960EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS15
HP:0002652HP:0002656Epiphyseal dysplasia1RNU4ATAC CL E G H10015168334016ORPHA:1824Lowry-Wood syndromeHP:0040281 - Very frequent15
HP:0002652HP:0002656Epiphyseal dysplasia1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1RNU4ATAC CL E G H10015168334016OMIM:616651Roifman syndrome.15
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040282 - Frequent10
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1RSPRY1 CL E G H8997029420ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndromeHP:0040281 - Very frequent2
HP:0002652HP:0100255Metaphyseal dysplasia1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0002652HP:0100255Metaphyseal dysplasia1SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndrome26
HP:0002652HP:0100255Metaphyseal dysplasia1SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 126
HP:0002652HP:0100255Metaphyseal dysplasia1SFRP4 CL E G H642410778OMIM:265900Pyle disease.3
HP:0002652HP:0005716Lethal skeletal dysplasia1SLC26A2 CL E G H183610994ORPHA:93298Achondrogenesis type 1BHP:0040281 - Very frequent166
HP:0002652HP:0002656Epiphyseal dysplasia1SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0002652HP:0002654Multiple epiphyseal dysplasia1SLC26A2 CL E G H183610994OMIM:226900Epiphyseal dysplasia, multiple, 4.166
HP:0002652HP:0002654Multiple epiphyseal dysplasia1SLC26A2 CL E G H183610994ORPHA:93307Multiple epiphyseal dysplasia type 4HP:0040281 - Very frequent166
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1SMARCAL1 CL E G H5048511102ORPHA:1830Schimke immuno-osseous dysplasiaHP:0040282 - Frequent74
HP:0002652HP:0100255Metaphyseal dysplasia1SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndrome
HP:0002652HP:0100255Metaphyseal dysplasia1SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1
HP:0002652HP:0005775Multiple skeletal anomalies1STAC3 CL E G H24632928423OMIM:255995Myopathy, congenital, bailey-bloch.14
HP:0002652HP:0100252Diaphyseal dysplasia1TBXAS1 CL E G H691611609OMIM:231095Ghosal hematodiaphyseal dysplasia.16
HP:0002652HP:0100255Metaphyseal dysplasia1TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040282 - Frequent13
HP:0002652HP:0100252Diaphyseal dysplasia1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0002652HP:0002656Epiphyseal dysplasia1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0002652HP:0100255Metaphyseal dysplasia1TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0002652HP:0100255Metaphyseal dysplasia1TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002652HP:0100252Diaphyseal dysplasia1TMEM53 CL E G H7963926186OMIM:619727CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002652HP:0002651Spondyloepimetaphyseal dysplasia1TONSL CL E G H47967801OMIM:271510Spondyloepimetaphyseal dysplasia, Sponastrime type.
HP:0002652HP:0005775Multiple skeletal anomalies1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040281 - Very frequent46
HP:0002652HP:0002654Multiple epiphyseal dysplasia1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040281 - Very frequent46
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0002652HP:0005716Lethal skeletal dysplasia1TRIP11 CL E G H932112305ORPHA:93299Achondrogenesis type 1AHP:0040281 - Very frequent133
HP:0002652HP:0002657Spondylometaphyseal dysplasia1TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia133
HP:0002652HP:0002656Epiphyseal dysplasia1TRPV4 CL E G H5934118083OMIM:156530Metatropic dysplasia.214
HP:0002652HP:0002655Spondyloepiphyseal dysplasia1TRPV4 CL E G H5934118083OMIM:184095Spondyloepiphyseal dysplasia, Maroteaux type.214
HP:0002652HP:0002657Spondylometaphyseal dysplasia1TRPV4 CL E G H5934118083OMIM:184252Spondylometaphyseal dysplasia, Kozlowski type.214
HP:0002652HP:0100255Metaphyseal dysplasia1UFSP2 CL E G H5532525640OMIM:617974Spondyloepimetaphyseal dysplasia, DI Rocco type.2
HP:0002652HP:0005716Lethal skeletal dysplasia1WDR35 CL E G H5753929250ORPHA:93271Short rib-polydactyly syndrome, Verma-Naumoff typeHP:0040281 - Very frequent136
HP:0002652HP:0002656Epiphyseal dysplasia1XYLT1 CL E G H6413115516OMIM:615777Desbuquois dysplasia 214
HP:0002652HP:0005871Metaphyseal chondrodysplasia2AIFM1 CL E G H91318768ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndromeHP:0040281 - Very frequent60
HP:0002652HP:0005871Metaphyseal chondrodysplasia2ALG3 CL E G H1019523056ORPHA:79321ALG3-CDGHP:0040284 - Very rare37
HP:0002652HP:0005871Metaphyseal chondrodysplasia2COL10A1 CL E G H13002185OMIM:156500Metaphyseal chondrodysplasia, Schmid type.79
HP:0002652HP:0005871Metaphyseal chondrodysplasia2CWC27 CL E G H1028310664ORPHA:166035Brachydactyly-short stature-retinitis pigmentosa syndromeHP:0040283 - Occasional4
HP:0002652HP:0005871Metaphyseal chondrodysplasia2CWC27 CL E G H1028310664OMIM:250410Retinitis pigmentosa with or without skeletal anomalies.4
HP:0002652HP:0005871Metaphyseal chondrodysplasia2DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional5
HP:0002652HP:0005871Metaphyseal chondrodysplasia2DNAJC21 CL E G H13421827030OMIM:260400Shwachman-Diamond syndrome 1.5
HP:0002652HP:0005871Metaphyseal chondrodysplasia2EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional1
HP:0002652HP:0005871Metaphyseal chondrodysplasia2FGFR3 CL E G H22613690ORPHA:85165Severe achondroplasia-developmental delay-acanthosis nigricans syndromeHP:0040281 - Very frequent145
HP:0002652HP:0005871Metaphyseal chondrodysplasia2GPX4 CL E G H28794556ORPHA:93317Spondylometaphyseal dysplasia, Sedaghatian typeHP:0040281 - Very frequent3
HP:0002652HP:0005871Metaphyseal chondrodysplasia2HDAC6 CL E G H1001314064ORPHA:163966X-linked dominant chondrodysplasia, Chassaing-Lacombe typeHP:0040281 - Very frequent2
HP:0002652HP:0005871Metaphyseal chondrodysplasia2MMP13 CL E G H43227159OMIM:250400Metaphyseal chondrodysplasia, Spahr type.52
HP:0002652HP:0005871Metaphyseal chondrodysplasia2MMP13 CL E G H43227159ORPHA:2501Metaphyseal chondrodysplasia, Spahr typeHP:0040281 - Very frequent52
HP:0002652HP:0005871Metaphyseal chondrodysplasia2PTH1R CL E G H57459608OMIM:156400Metaphyseal chondrodysplasia, Jansen type.58
HP:0002652HP:0005871Metaphyseal chondrodysplasia2RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0002652HP:0005871Metaphyseal chondrodysplasia2SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional26
HP:0002652HP:0005871Metaphyseal chondrodysplasia2SBDS CL E G H5111919440OMIM:260400Shwachman-Diamond syndrome 1.26
HP:0002652HP:0005871Metaphyseal chondrodysplasia2SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040283 - Occasional
HP:0002652HP:0005871Metaphyseal chondrodysplasia2SRP54 CL E G H672911301OMIM:260400Shwachman-Diamond syndrome 1.


Genes (184) :ABCC9 ACAN ACP5 ACTB ACTG1 AIFM1 AKT1 ALDH3A2 ALG3 ALG6 ALG9 ANAPC1 ANKH ANOS1 ARSB B3GALT6 B4GALT7 BGN BMPR1B CANT1 CCDC141 CCN6 CDH3 CDKN1C CEP120 CFAP410 CHD7 CHST3 COL10A1 COL11A1 COL11A2 COL2A1 COL3A1 COL9A1 COL9A2 COL9A3 COMP CTSA CWC27 DCC DCHS1 DDR2 DDRGK1 DMP1 DNAJC21 DPYD DUSP6 DYM DYNC2H1 DYNC2I1 DYNC2I2 DYNC2LI1 EFL1 EIF2AK3 ENPP1 EPCAM EXOC6B EXTL3 FAT4 FEZF1 FGF17 FGF8 FGFR1 FGFR3 FLNA FLNB FLRT3 FN1 GDF5 GEMIN4 GJA1 GLB1 GLI3 GNAS GNS GPX4 HDAC6 HESX1 HS6ST1 HSPA9 HSPG2 IARS2 IDH1 IDUA IFT140 IFT172 IFT80 IHH IL17RD KANSL1 KCNJ8 KIF22 KIF7 KRAS LBR LEMD3 LIFR LONP1 LOXL3 LRRK1 LTBP3 MAP3K7 MATN3 MBTPS1 MMP13 NANS NDNF NEU1 NF1 NKX3-2 NLRP3 NMNAT1 NOTCH2 NPR2 P4HB PAM16 PAPSS2 PCYT1A PERCC1 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PHYH PIK3C2A POLE POLR1B POLR1C POLR1D POP1 PROK2 PROKR2 PTEN PTH1R RECQL4 RMRP RNU4ATAC RPL10 RSPRY1 RUNX2 SBDS SEC23A SEC24D SEMA3A SF3B4 SFRP4 SLC26A2 SLC39A13 SMARCAL1 SMO SOX10 SPRY4 SRP54 STAC3 TACR3 TBXAS1 TCOF1 TGFB1 TMEM165 TMEM53 TMEM67 TONSL TRAPPC2 TREM2 TRIP11 TRPV4 TTC21B TYROBP UFSP2 VPS33A WDR11 WDR19 WDR35 XYLT1

Diseases (191) :ORPHA:1517 OMIM:612813 OMIM:608361 ORPHA:93283 ORPHA:1855 OMIM:607944 ORPHA:2995 ORPHA:83629 OMIM:300232 ORPHA:744 ORPHA:816 ORPHA:79321 ORPHA:79320 ORPHA:79328 OMIM:608776 OMIM:263210 ORPHA:221008 ORPHA:1522 ORPHA:478 OMIM:253200 ORPHA:536467 OMIM:615349 OMIM:271640 ORPHA:75496 OMIM:300106 ORPHA:2098 OMIM:617719 ORPHA:1159 ORPHA:1573 ORPHA:85173 OMIM:614732 ORPHA:474 OMIM:602271 OMIM:143095 OMIM:156500 ORPHA:250984 OMIM:604841 OMIM:215150 ORPHA:1427 OMIM:184840 ORPHA:93296 ORPHA:85198 OMIM:132450 ORPHA:166011 ORPHA:85166 OMIM:151210 OMIM:184250 OMIM:183900 OMIM:616583 OMIM:184255 ORPHA:93316 OMIM:271700 ORPHA:90653 OMIM:108300 ORPHA:2500 OMIM:614135 OMIM:614134 OMIM:600204 OMIM:600969 OMIM:132400 ORPHA:351 ORPHA:166035 OMIM:250410 OMIM:601390 OMIM:271665 OMIM:602557 ORPHA:289176 OMIM:617052 ORPHA:811 OMIM:260400 ORPHA:1675 ORPHA:239 ORPHA:93271 OMIM:226980 ORPHA:1667 ORPHA:92050 OMIM:618395 OMIM:617425 OMIM:615546 ORPHA:2396 ORPHA:429 ORPHA:85165 ORPHA:1860 ORPHA:93274 ORPHA:1826 ORPHA:90650 ORPHA:90652 OMIM:272460 OMIM:617913 OMIM:218400 ORPHA:79255 ORPHA:672 ORPHA:57782 OMIM:252940 ORPHA:93317 OMIM:250220 ORPHA:163966 OMIM:616854 ORPHA:800 ORPHA:436174 OMIM:616007 ORPHA:99646 ORPHA:93473 ORPHA:93476 ORPHA:63446 ORPHA:363958 ORPHA:363965 OMIM:603546 ORPHA:93360 OMIM:607131 ORPHA:166024 OMIM:215140 OMIM:618019 ORPHA:1306 ORPHA:3206 OMIM:600373 OMIM:615198 OMIM:617809 OMIM:607078 OMIM:608728 OMIM:618392 OMIM:250400 ORPHA:2501 OMIM:602111 OMIM:610442 ORPHA:812 ORPHA:97685 OMIM:613330 ORPHA:1451 OMIM:619260 ORPHA:955 OMIM:615923 ORPHA:2050 OMIM:613320 OMIM:612847 OMIM:608940 ORPHA:912 ORPHA:773 OMIM:266500 ORPHA:557003 OMIM:618336 ORPHA:861 OMIM:617396 ORPHA:2969 ORPHA:50945 ORPHA:79106 OMIM:600002 OMIM:156400 ORPHA:221016 OMIM:250250 ORPHA:175 OMIM:250460 OMIM:226960 ORPHA:1824 OMIM:616651 ORPHA:353298 OMIM:300998 ORPHA:459070 ORPHA:457395 ORPHA:1452 OMIM:156510 ORPHA:50814 ORPHA:245 OMIM:265900 ORPHA:93298 OMIM:226900 ORPHA:93307 ORPHA:157965 OMIM:242900 ORPHA:1830 OMIM:241800 OMIM:255995 OMIM:231095 ORPHA:1328 OMIM:614727 OMIM:619727 ORPHA:140976 OMIM:602152 OMIM:271510 ORPHA:93284 OMIM:313400 ORPHA:2770 ORPHA:93299 OMIM:184260 OMIM:156530 ORPHA:2635 OMIM:184095 OMIM:184252 OMIM:617974 ORPHA:505248 OMIM:615777
 

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