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HPO → 對應的病歷用詞，並附加具此 HPO 的疾病作為參考。
Abnormal epiphysis morphology
HP:0005930
對應病歷用詞(0)
尚無對應用詞。
具此 HPO 的疾病（附加參考）(79)
- Absence deformity of leg-cataract syndromeORPHA:2310 · Very frequent (99-80%)
- Acrofrontofacionasal dysostosisORPHA:1784 · Very frequent (99-80%)
- Albers-Schönberg osteopetrosisORPHA:53 · Very frequent (99-80%)
- Angel-shaped phalango-epiphyseal dysplasiaORPHA:63442 · Very frequent (99-80%)
- Autosomal recessive malignant osteopetrosisORPHA:667 · Very frequent (99-80%)
- Blomstrand lethal chondrodysplasiaORPHA:50945 · Very frequent (99-80%)
- Cartilage-hair hypoplasiaORPHA:175 · Very frequent (99-80%)
- Cloverleaf skull-multiple congenital anomalies syndromeORPHA:93267 · Very frequent (99-80%)
- CODAS syndromeORPHA:1458 · Very frequent (99-80%)
- Coxopodopatellar syndromeORPHA:1509 · Very frequent (99-80%)
- Diastrophic dysplasiaORPHA:628 · Very frequent (99-80%)
- Dysplasia epiphysealis hemimelicaORPHA:1822 · Very frequent (99-80%)
- Ear-patella-short stature syndromeORPHA:2554 · Very frequent (99-80%)
- Erdheim-Chester diseaseORPHA:35687 · Very frequent (99-80%)
- Fibular aplasia-complex brachydactyly syndromeORPHA:2639 · Very frequent (99-80%)
- GM1 gangliosidosisORPHA:354 · Very frequent (99-80%)
- Hereditary sensory and autonomic neuropathy type 2ORPHA:970 · Very frequent (99-80%)
- Hip dysplasia, Beukes typeORPHA:2114 · Very frequent (99-80%)
- Intellectual disability-polydactyly-uncombable hair syndromeORPHA:3082 · Very frequent (99-80%)
- Isolated acheiropodiaORPHA:931 · Very frequent (99-80%)
- Langer mesomelic dysplasiaORPHA:2632 · Very frequent (99-80%)
- Leri pleonosteosisORPHA:2900 · Very frequent (99-80%)
- Léri-Weill dyschondrosteosisORPHA:240 · Very frequent (99-80%)
- Lowry-Wood syndromeORPHA:1824 · Very frequent (99-80%)
- MetachondromatosisORPHA:2499 · Very frequent (99-80%)
- Metaphyseal anadysplasiaORPHA:1040 · Very frequent (99-80%)
- Microcephalic osteodysplastic primordial dwarfism type IIORPHA:2637 · Very frequent (99-80%)
- Microcephalic primordial dwarfism, Toriello typeORPHA:2643 · Very frequent (99-80%)
- Mucopolysaccharidosis type 1ORPHA:579 · Very frequent (99-80%)
- Mucopolysaccharidosis type 4ORPHA:582 · Very frequent (99-80%)
- Multiple epiphyseal dysplasia due to collagen 9 anomalyORPHA:166002 · Very frequent (99-80%)
- Nasu-Hakola diseaseORPHA:2770 · Very frequent (99-80%)
- OpsismodysplasiaORPHA:2746 · Very frequent (99-80%)
- PachydermoperiostosisORPHA:2796 · Very frequent (99-80%)
- Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndromeORPHA:1388 · Very frequent (99-80%)
- Rhizomelic chondrodysplasia punctataORPHA:177 · Very frequent (99-80%)
- Rhizomelic syndrome, Urbach typeORPHA:3098 · Very frequent (99-80%)
- Satoyoshi syndromeORPHA:3130 · Very frequent (99-80%)
- Schwartz-Jampel syndromeORPHA:800 · Very frequent (99-80%)
- Spondyloepimetaphyseal dysplasia, Irapa typeORPHA:93351 · Very frequent (99-80%)
- Spondyloepiphyseal dysplasia, Kimberley typeORPHA:93283 · Very frequent (99-80%)
- Spondylometaphyseal dysplasia-cone-rod dystrophy syndromeORPHA:85167 · Very frequent (99-80%)
- Stickler syndromeORPHA:828 · Very frequent (99-80%)
- Thiemann disease, familial formORPHA:3314 · Very frequent (99-80%)
- 48,XXXY syndromeORPHA:96263 · Frequent (79-30%)
- 49,XXXXY syndromeORPHA:96264 · Frequent (79-30%)
- Adult Refsum diseaseORPHA:773 · Frequent (79-30%)
- Autosomal recessive Stickler syndromeORPHA:250984 · Frequent (79-30%)
- CHIME syndromeORPHA:3474 · Frequent (79-30%)
- Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitisORPHA:324964 · Frequent (79-30%)
- Congenital hypothyroidism due to maternal intake of antithyroid drugsORPHA:226313 · Frequent (79-30%)
- Familial thyroid dyshormonogenesisORPHA:95716 · Frequent (79-30%)
- Hall-Riggs syndromeORPHA:2107 · Frequent (79-30%)
- Hurler syndromeORPHA:93473 · Frequent (79-30%)
- Hypothyroidism due to deficient transcription factors involved in pituitary development or functionORPHA:226307 · Frequent (79-30%)
- Idiopathic congenital hypothyroidismORPHA:95717 · Frequent (79-30%)
- Isolated thyroid-stimulating hormone deficiencyORPHA:90674 · Frequent (79-30%)
- Mesomelic dwarfism-cleft palate-camptodactyly syndromeORPHA:2631 · Frequent (79-30%)
- Metaphyseal chondrodysplasia, Spahr typeORPHA:2501 · Frequent (79-30%)
- Myhre syndromeORPHA:2588 · Frequent (79-30%)
- Rheumatoid factor-positive polyarticular juvenile idiopathic arthritisORPHA:85435 · Frequent (79-30%)
- Spondyloepimetaphyseal dysplasia, Shohat typeORPHA:93352 · Frequent (79-30%)
- Stickler syndrome type 1ORPHA:90653 · Frequent (79-30%)
- Urban-Rogers-Meyer syndromeORPHA:3409 · Frequent (79-30%)
- X-linked hypophosphatemiaORPHA:89936 · Frequent (79-30%)
- 17q23.1q23.2 microdeletion syndromeORPHA:261279 · Occasional (29-5%)
- Acromicric dysplasiaORPHA:969 · Occasional (29-5%)
- Brittle cornea syndromeORPHA:90354 · Occasional (29-5%)
- Cleidocranial dysplasiaORPHA:1452 · Occasional (29-5%)
- Cockayne syndromeORPHA:191 · Occasional (29-5%)
- Craniofacial dysostosis-diaphyseal hyperplasia syndromeORPHA:1798 · Occasional (29-5%)
- Distal deletion 6p syndromeORPHA:96125 · Occasional (29-5%)
- Geroderma osteodysplasticaORPHA:2078 · Occasional (29-5%)
- Hypothyroidism due to TSH receptor mutationsORPHA:90673 · Occasional (29-5%)
- Infantile Refsum diseaseORPHA:772 · Occasional (29-5%)
- Larsen syndromeORPHA:503 · Occasional (29-5%)
- Multicentric carpo-tarsal osteolysis with or without nephropathyORPHA:2774 · Occasional (29-5%)
- Nicolaides-Baraitser syndromeORPHA:3051 · Occasional (29-5%)
- Oculocerebrorenal syndrome of LoweORPHA:534 · Occasional (29-5%)