loading...| Preferred Name |
Pfeiffer syndrome |
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| Synonyms |
acrocephalosyndactyly type V ACS5 type V Acrocephalosyndactyly acrocephalosyndactylia type V acrocephalosyndactyly type 5 Pfeiffer syndrome Noack syndrome Pfeiffer type acrocephalosyndactyly acrocephalosyndactyly, type 5 craniofacial-skeletal-Dermatologic dysplasia ACS 5 |
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| Definitions |
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0007043 |
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| has_exact_synonym |
acrocephalosyndactyly type V ACS5 type V Acrocephalosyndactyly acrocephalosyndactylia type V acrocephalosyndactyly type 5 Pfeiffer syndrome |
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| has_related_synonym |
Noack syndrome Pfeiffer type acrocephalosyndactyly acrocephalosyndactyly, type 5 craniofacial-skeletal-Dermatologic dysplasia ACS 5 |
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| IAO_0000233 | ||
| label |
Pfeiffer syndrome |
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| prefixIRI |
MONDO:0007043 |
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| prefLabel |
Pfeiffer syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/7380/pfeiffer-syndrome |
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| textual definition |
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations. |
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| subClassOf |