loading...| Preferred Name |
Wolf-Hirschhorn syndrome |
|
| Synonyms |
telomeric deletion 4p Wolf-Hirschhorn syndrome, Isolated cases 4p deletion syndrome Wolf-Hirschhorn syndrome Pitt syndrome Wittwer syndrome chromosome 4p16.3 deletion syndrome distal monosomy 4p distal deletion 4p Pitt-Rogers-Danks syndrome 4p- syndrome chromosome 4P16.3 deletion syndrome chromosome 4p syndrome Wolf syndrome 4p syndrome microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation WHS |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008684 |
|
| closeMatch | ||
| database_cross_reference |
OMIM:194190 MedDRA:10050361 NCIT:C35528 SCTID:718226002 DOID:0050460 NANDO:1200683 MESH:D054877 UMLS:C1956097 Orphanet:280 ICD10CM:Q93.3 NANDO:2200962 DECIPHER:1 GARD:7896 NORD:1859 |
|
| 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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C35528 http://purl.obolibrary.org/obo/Orphanet_280 http://identifiers.org/mesh/D054877 http://linkedlifedata.com/resource/umls/id/C1956097 |
|
| has_exact_synonym |
telomeric deletion 4p Wolf-Hirschhorn syndrome, Isolated cases 4p deletion syndrome Wolf-Hirschhorn syndrome Pitt syndrome Wittwer syndrome chromosome 4p16.3 deletion syndrome distal monosomy 4p distal deletion 4p Pitt-Rogers-Danks syndrome 4p- syndrome |
|
| has_related_synonym |
chromosome 4P16.3 deletion syndrome chromosome 4p syndrome Wolf syndrome 4p syndrome microcephaly, IUGR, hypertelorism, ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation WHS |
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| IAO_0000233 | ||
| id |
MONDO:0008684 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Wolf-Hirschhorn syndrome |
|
| notation |
MONDO:0008684 |
|
| prefLabel |
Wolf-Hirschhorn syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015159 |
|
| excluded_subClassOf |
http://purl.obolibrary.org/obo/MONDO_0020226 http://purl.obolibrary.org/obo/MONDO_0005027 |