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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。
delayed walking
待審核對應 HPO 表現型(1)
- Delayed ability to walkHP:0031936權重 0.6待審核具此 HPO 的疾病(附加參考):
- 3-methylglutaconic aciduria type 9 (ORPHA:505216)
- AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome (ORPHA:412069)
- Allan-Herndon-Dudley syndrome (ORPHA:59)
- Alström syndrome (ORPHA:64)
- Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
- Arthrochalasia Ehlers-Danlos syndrome (ORPHA:1899)
- Autosomal recessive cerebelloparenchymal disorder type 3 (ORPHA:1170)
- Bartter syndrome type 4 (ORPHA:89938)
- Bilateral generalized polymicrogyria (ORPHA:208447)
- CNTNAP2-related developmental and epileptic encephalopathy (ORPHA:163681)
- DK1-CDG (ORPHA:91131)
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome (ORPHA:488635)
- FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome (ORPHA:404451)
- Gabriele-de Vries syndrome (ORPHA:506358)
- Houge-Janssens syndrome type 1 (ORPHA:457279)
- Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome (ORPHA:2269)
- Imerslund-Gräsbeck syndrome (ORPHA:35858)
- Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome (ORPHA:513456)
- Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
- Lamb-Shaffer syndrome (ORPHA:530983)
- Macrocephaly-developmental delay syndrome (ORPHA:397612)
- 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)
- Muscle-eye-brain disease with bilateral multicystic leucodystrophy (ORPHA:370997)
- Myopathic Ehlers-Danlos syndrome (ORPHA:536516)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion (ORPHA:352665)
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
- Opitz GBBB syndrome (ORPHA:2745)
- Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome (ORPHA:477993)
- Pelizaeus-Merzbacher disease, classic form (ORPHA:280219)
- PMP22-RAI1 contiguous gene duplication syndrome (ORPHA:477817)
- Pyruvate dehydrogenase E2 deficiency (ORPHA:79244)
- Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome (ORPHA:480864)
- Usher syndrome (ORPHA:886)
- X-linked Charcot-Marie-Tooth disease type 3 (ORPHA:101077)
- X-linked hypophosphatemia (ORPHA:89936)
- X-linked sideroblastic anemia and spinocerebellar ataxia (ORPHA:2802)