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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/187601
http://purl.bioontology.org/ontology/OMIM/187601
|
|---|---|
| Preferred Name | THANATOPHORIC DYSPLASIA, TYPE II |
| Synonyms |
THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL
TD2
THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL
CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL
TD2
THANATOPHORIC DYSPLASIA WITH STRAIGHT FEMURS AND CLOVERLEAF SKULL
CLOVERLEAF SKULL WITH THANATOPHORIC DWARFISM
|
|---|---|
| prefLabel | THANATOPHORIC DYSPLASIA, TYPE II
|
| Gene Symbol |
ACH
FGFR3
|
| Scope Statement | Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0004) [MOLECULAR BASIS]
Death in majority of infants soon after birth [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4p16.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 187601
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1300257
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |