DiseaseID 26479
Hamel脑-腭-心脏综合征
Hamel Cerebro-Palato-Cardiac Syndrome
Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the
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Disease: 1Symptom: 2Target: 1Links: 3
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 26479
- Core Entity Id
- 119047
- Source Entity Count
- 1
- Preferred Name
- Hamel Cerebro-Palato-Cardiac Syndrome
- Name Cn
- Hamel脑-腭-心脏综合征
- Name Pinyin
- Hamel Nao - E - Xin Zang Zong He Zheng
- Name En
- Hamel Cerebro-Palato-Cardiac Syndrome
- Name Latin
- Bilingual Status
- complete
- Disease Type
- Umls Disease Type
- Disgenet Type
- Mesh Class
- Do Class
- Hpo Class
- Mesh Class Name
- Hpo Class Name
- Do Class Name
- Disease Definition
- Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hamel Cerebro-Palato-Cardiac Syndrome
Role
preferred
Cross References
Trusted external identifiers retained for this final record.
Sym Map
SMDE03678
Orphanet
93946
Itcmdb Generated
ITX-DISEASE-0EE5E8012D26
Attributes
Merged source attributes and domain-specific metadata.
Version
v1
Suppress
0
Disease Definition
Hamel cerebro-palato-cardiac syndrome is an X-linked intellectual disability syndrome (XLMR; see this term) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the