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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/300863
http://purl.bioontology.org/ontology/OMIM/300863
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|---|---|
| Preferred Name | CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA |
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| prefLabel | CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA
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|---|---|
| Gene Symbol |
HDAC6
CPBHM
|
| Scope Statement | Carrier females are less affected (short stature with rhizomelic shortening of limbs, mild body asymmetry, and mild mental retardation) [MISCELLANEOUS]
Caused by mutation in the histone deacetylase 6 gene (HDAC6, 300272.0001) [MOLECULAR BASIS]
Based on one report of a 4-generation family with 4 affected males and 6 affected females [MISCELLANEOUS]
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| type | |
| Has manifestation |
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| tui | T047
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| Gene Locus | Xp11.23
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| notation | 300863
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3275476
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| OMIM Entry Type | 3
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| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |