← 返回 Admin 交叉檢視
以病歷用詞交叉檢視
病歷用詞 → 對應的 HPO，並附加具這些 HPO 的疾病作為參考。
knock knees
待審核對應 HPO 表現型(1)
- Genu valgumHP:0002857權重 0.85已確認具此 HPO 的疾病（附加參考）：
- Acrocraniofacial dysostosis (ORPHA:949)
- Albers-Schönberg osteopetrosis (ORPHA:53)
- Alpha-mannosidosis, infantile form (ORPHA:309282)
- Aromatase deficiency (ORPHA:91)
- Atelosteogenesis type II (ORPHA:56304)
- Autosomal recessive spastic paraplegia type 20 (ORPHA:101000)
- Beta-mercaptolactate cysteine disulfiduria (ORPHA:1035)
- Beta-thalassemia major (ORPHA:231214)
- Brachytelephalangy-dysmorphism-Kallmann syndrome (ORPHA:1295)
- Camurati-Engelmann disease (ORPHA:1328)
- Cardiac-valvular Ehlers-Danlos syndrome (ORPHA:230851)
- Cardiofaciocutaneous syndrome (ORPHA:1340)
- Carpenter syndrome (ORPHA:65759)
- Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome (ORPHA:436174)
- CHST3-related skeletal dysplasia (ORPHA:263463)
- Cleidocranial dysplasia (ORPHA:1452)
- COG5-CDG (ORPHA:263487)
- Cohen syndrome (ORPHA:193)
- Congenital patella dislocation (ORPHA:295036)
- Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (ORPHA:300570)
- Diastrophic dysplasia (ORPHA:628)
- Difference of sex development-intellectual disability syndrome (ORPHA:2983)
- Distal deletion 15q syndrome (ORPHA:1596)
- Distal duplication 17q syndrome (ORPHA:3379)
- Dyggve-Melchior-Clausen disease (ORPHA:239)
- Dysmorphism-pectus carinatum-joint laxity syndrome (ORPHA:2104)
- Dysplasia epiphysealis hemimelica (ORPHA:1822)
- Dysspondyloenchondromatosis (ORPHA:85198)
- Ellis-Van Creveld syndrome (ORPHA:289)
- Facial dysmorphism-shawl scrotum-joint laxity syndrome (ORPHA:1778)
- Giant axonal neuropathy (ORPHA:643)
- HIDEA syndrome (ORPHA:436141)
- Homocystinuria due to cystathionine beta-synthase deficiency (ORPHA:394)
- Hypocalcemic vitamin D-resistant rickets (ORPHA:93160)
- Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome (ORPHA:293967)
- Isolated fibular hemimelia (ORPHA:93323)
- Isolated megalencephaly (ORPHA:2477)
- Léri-Weill dyschondrosteosis (ORPHA:240)
- Marshall syndrome (ORPHA:560)
- Mesomelia-synostoses syndrome (ORPHA:2496)
- Mesomelic dysplasia, Nievergelt type (ORPHA:2633)
- Microtriplication 11q24.1 syndrome (ORPHA:289522)
- Monosomy X syndrome (ORPHA:99226)
- Mosaic monosomy X syndrome (ORPHA:99228)
- Mowat-Wilson syndrome (ORPHA:2152)
- Mowat-Wilson syndrome due to a ZEB2 point mutation (ORPHA:261552)
- Mowat-Wilson syndrome due to monosomy 2q22 (ORPHA:261537)
- Mucolipidosis type III (ORPHA:577)
- Mucopolysaccharidosis type 3 (ORPHA:581)
- Mucopolysaccharidosis type 4 (ORPHA:582)
- Mucopolysaccharidosis type 6 (ORPHA:583)
- Multiple epiphyseal dysplasia due to collagen 9 anomaly (ORPHA:166002)
- Multiple epiphyseal dysplasia type 1 (ORPHA:93308)
- Multiple epiphyseal dysplasia type 4 (ORPHA:93307)
- Multiple epiphyseal dysplasia type 5 (ORPHA:93311)
- Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome (ORPHA:166024)
- Multiple epiphyseal dysplasia, Lowry type (ORPHA:166016)
- Multiple osteochondromas (ORPHA:321)
- Neurofibromatosis type 1 (ORPHA:636)
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion (ORPHA:363700)
- Non-acquired isolated growth hormone deficiency (ORPHA:631)
- Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome (ORPHA:2972)
- Occipital horn syndrome (ORPHA:198)
- Oculocerebrorenal syndrome of Lowe (ORPHA:534)
- Oculofaciocardiodental syndrome (ORPHA:2712)
- Ollier disease (ORPHA:296)
- Osteogenesis imperfecta (ORPHA:666)
- Progressive pseudorheumatoid dysplasia (ORPHA:1159)
- Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome (ORPHA:457395)
- Prolidase deficiency (ORPHA:742)
- Pseudoachondroplasia (ORPHA:750)
- Pseudoleprechaunism syndrome, Patterson type (ORPHA:2976)
- Pyle disease (ORPHA:3005)
- Rhizomelic dysplasia, Patterson-Lowry type (ORPHA:2831)
- Richieri Costa-da Silva syndrome (ORPHA:3101)
- Ring chromosome 7 syndrome (ORPHA:1449)
- Roussy-Lévy syndrome (ORPHA:3115)
- Schwartz-Jampel syndrome (ORPHA:800)
- Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
- SHOX-related short stature (ORPHA:314795)
- Shprintzen-Goldberg syndrome (ORPHA:2462)
- SPONASTRIME dysplasia (ORPHA:93357)
- Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (ORPHA:93360)
- Spondyloepimetaphyseal dysplasia, Irapa type (ORPHA:93351)
- Spondyloepiphyseal dysplasia congenita (ORPHA:94068)
- Spondylometaphyseal dysplasia, 'corner fracture' type (ORPHA:93315)
- Spondylometaphyseal dysplasia, Schmidt type (ORPHA:93316)
- Stickler syndrome (ORPHA:828)
- Stüve-Wiedemann syndrome (ORPHA:3206)
- Thoracomelic dysplasia (ORPHA:1803)
- Trichorhinophalangeal syndrome type 2 (ORPHA:502)
- Turner syndrome (ORPHA:881)
- Turner syndrome due to structural X chromosome anomalies (ORPHA:99413)
- Typical nemaline myopathy (ORPHA:171436)
- Unstable beta globin chain variant disease (ORPHA:231226)
- Williams syndrome (ORPHA:904)
- X-linked hypophosphatemia (ORPHA:89936)
- X-linked intellectual disability, Stevenson type (ORPHA:85325)