loading...| Preferred Name |
缺指畸形 |
| Definitions |
同一患者的手和脚受累程度可能相近或完全不一致，此症的表现型甚至在家族内也不尽相同。外显率可有降低，某些个体可能仅表现为单侧第二脚趾较小，可被忽视，直至另一家族成员出现严重症状。 A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. |
| ID |
http://purl.bmicc.cn/ontology/HPCH/HP_0100257 |
| comment |
同一患者的手和脚受累程度可能相近或完全不一致，此症的表现型甚至在家族内也不尽相同。外显率可有降低，某些个体可能仅表现为单侧第二脚趾较小，可被忽视，直至另一家族成员出现严重症状。 |
| created_by |
doelkens |
| creation_date |
2010-07-15T03:56:58Z |
| database_cross_reference |
SNOMEDCT:81208006 UMLS:C0265554 |
| definition |
A condition in which middle parts of the hands and/or feet (digits and meta-carpals and -tarsals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic 3rd toe/fingers over absent 2nd or 3rd toes/fingers as far as oligo- or monodactyl hands and/or feet. |
| free_Translation |
同一患者的手和脚受累程度可能相近或完全不一致，此症的表现型甚至在家族内也不尽相同。外显率可有降低，某些个体可能仅表现为单侧第二脚趾较小，可被忽视，直至另一家族成员出现严重症状。 缺指畸形 手或脚中间部分，从手指/脚趾到腕骨/跗骨，出现缺失，表现为中间出现裂缝。最轻者可出现第二手指/脚趾、第三手指/脚趾发育不全或缺失，严重者可出现手或脚单指/单趾。 |
| has_exact_match | |
| has_obo_namespace |
human_phenotype_in_Chinese |
| id |
HP:0100257 |
| in_subset | |
| label |
缺指畸形 |
| notation |
HP:0100257 |
| prefLabel |
缺指畸形 |
| semi_formal_definition |
手或脚中间部分，从手指/脚趾到腕骨/跗骨，出现缺失，表现为中间出现裂缝。最轻者可出现第二手指/脚趾、第三手指/脚趾发育不全或缺失，严重者可出现手或脚单指/单趾。 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||