loading...| Preferred Name |
Wolf-Hirschhorn syndrome |
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| Synonyms |
Pitt syndrome 4p- syndrome chromosome 4p16.3 deletion syndrome Pitt-Rogers-Danks syndrome Wolf-Hirschhorn syndrome telomeric deletion 4p distal monosomy 4p Wolf-Hirschhorn syndrome, Isolated cases Wittwer syndrome 4p deletion syndrome distal deletion 4p Wolf syndrome microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation 4p syndrome WHS chromosome 4P16.3 deletion syndrome chromosome 4p syndrome |
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| Definitions |
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0008684 |
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| disease has feature | ||
| has_exact_synonym |
Pitt syndrome 4p- syndrome chromosome 4p16.3 deletion syndrome Pitt-Rogers-Danks syndrome Wolf-Hirschhorn syndrome telomeric deletion 4p distal monosomy 4p Wolf-Hirschhorn syndrome, Isolated cases Wittwer syndrome 4p deletion syndrome distal deletion 4p |
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| has_related_synonym |
Wolf syndrome microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation 4p syndrome WHS chromosome 4P16.3 deletion syndrome chromosome 4p syndrome |
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| IAO_0000233 | ||
| label |
Wolf-Hirschhorn syndrome |
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| prefixIRI |
MONDO:0008684 |
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| prefLabel |
Wolf-Hirschhorn syndrome |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome |
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| textual definition |
Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia. |
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| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 http://purl.obolibrary.org/obo/MONDO_0015216 http://purl.obolibrary.org/obo/MONDO_0005027 |