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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | BRACHYDACTYLY, TYPE A1 | |
| Synonyms |
BDA1 FARABEE-TYPE BRACHYDACTYLY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/112500 |
|
| altLabel |
BDA1 FARABEE-TYPE BRACHYDACTYLY
|
|
| cui |
C1862151
|
|
| Gene Locus |
2q33-q35
|
|
| Gene Symbol |
BDA1 IHH
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019291 http://purl.bioontology.org/ontology/OMIM/MTHU007333 http://purl.bioontology.org/ontology/OMIM/MTHU019288 http://purl.bioontology.org/ontology/OMIM/MTHU019284 http://purl.bioontology.org/ontology/OMIM/MTHU019285 http://purl.bioontology.org/ontology/OMIM/MTHU019290 http://purl.bioontology.org/ontology/OMIM/MTHU019286 http://purl.bioontology.org/ontology/OMIM/MTHU015400 http://purl.bioontology.org/ontology/OMIM/MTHU019289 http://purl.bioontology.org/ontology/OMIM/MTHU000145 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
112500
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
BRACHYDACTYLY, TYPE A1
|
|
| Scope Statement |
Caused by mutations in the Indian hedgehog gene (IHH, 600726.0001) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] Allelic to acrocapitofemoral dysplasia (607778) [MISCELLANEOUS]
|
|
| tui |
T047
|
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