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以 HPO 交叉檢視
HPO → 對應的病歷用詞，並附加具此 HPO 的疾病作為參考。
Chiari type I malformation
HP:0007099
對應病歷用詞(0)
尚無對應用詞。
具此 HPO 的疾病（附加參考）(21)
- Arnold-Chiari malformation type IORPHA:268882 · Obligate (100%)
- 1p31p32 microdeletion syndromeORPHA:401986 · Frequent (79-30%)
- Aymé-Gripp syndromeORPHA:1272 · Frequent (79-30%)
- Corpus callosum agenesis-macrocephaly-hypertelorism syndromeORPHA:459074 · Frequent (79-30%)
- Koolen-De Vries syndromeORPHA:96169 · Frequent (79-30%)
- 19p13.13 microdeletion syndromeORPHA:357001 · Occasional (29-5%)
- Autosomal dominant hyper-IgE syndrome due to STAT3 deficiencyORPHA:2314 · Occasional (29-5%)
- Brachydactyly-short stature-retinitis pigmentosa syndromeORPHA:166035 · Occasional (29-5%)
- Contractures-developmental delay-Pierre Robin syndromeORPHA:436003 · Occasional (29-5%)
- Glossopharyngeal neuralgiaORPHA:221098 · Occasional (29-5%)
- Gorham-Stout diseaseORPHA:73 · Occasional (29-5%)
- Macrocephaly-intellectual disability-left ventricular non compaction syndromeORPHA:466791 · Occasional (29-5%)
- Proximal 16p11.2 microdeletion syndromeORPHA:261197 · Occasional (29-5%)
- Rubinstein-Taybi syndrome due to CREBBP mutationsORPHA:353277 · Occasional (29-5%)
- Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyORPHA:353284 · Occasional (29-5%)
- Schinzel-Giedion syndromeORPHA:798 · Occasional (29-5%)
- Wiedemann-Rautenstrauch syndromeORPHA:3455 · Occasional (29-5%)
- X-linked hypophosphatemiaORPHA:89936 · Occasional (29-5%)
- Legius syndromeORPHA:137605 · Very rare (<4-1%)
- Mowat-Wilson syndrome due to a ZEB2 point mutationORPHA:261552 · Very rare (<4-1%)
- Mowat-Wilson syndrome due to monosomy 2q22ORPHA:261537 · Very rare (<4-1%)