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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/269250
http://purl.bioontology.org/ontology/OMIM/269250
|
|---|---|
| Preferred Name | SCHNECKENBECKEN DYSPLASIA |
| Synonyms |
SHNKND
CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SHNKND
CHONDRODYSPLASIA, LETHAL NEONATAL, WITH SNAIL-LIKE PELVIS
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|---|---|
| prefLabel | SCHNECKENBECKEN DYSPLASIA
|
| Gene Symbol |
SHNKND
SLC35D1
KIAA0260
UGTREL7
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| notation | 269250
|
| Scope Statement | Stillborn or lethal in the neonatal period [MISCELLANEOUS]
Caused by mutation in the solute carrier family 35, member D1 gene (SLC25D1, 610804.0001) [MOLECULAR BASIS]
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| OMIM MimType Value | pound
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| Has inheritance type | |
| Semantic type UMLS property | |
| OMIM Entry Type | 3
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| type | |
| Has manifestation |
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
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| Gene Locus | 1p32-p31
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| tui | T047
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| cui | C0432194
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