loading...| Preferred Name |
Waardenburg Syndrome |
|
| Synonyms |
Waardenburgs Syndrome |
|
| Definitions |
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D014849 |
|
| altLabel |
Waardenburgs Syndrome Waardenburg Klein Syndrome Waardenburg's Syndrome Kleins Syndrome Waardenburg-Klein Syndrome Waardenburg Syndrome, Type 3 Syndrome, Klein's Klein-Waardenburg Syndrome Waardenburg Syndrome, Type III Waardenburg Syndrome Type 1 Syndrome, Waardenburg's White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations Klein's Syndrome Waardenburg Syndrome Type 3 Waardenburg Syndrome, Type 1 Syndrome, Klein Syndrome, Klein-Waardenburg Waardenburg's Syndrome Type 1 Klein Syndrome Waardenburg Syndrome with Dystopia Canthorum Waardenburg Syndrome with Upper Limb Anomalies Syndrome, Waardenburg Klein Waardenburg Syndrome Syndrome, Waardenburg-Klein |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C3266898 C1847800 C0079661 |
|
| DC |
1 |
|
| definition |
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities. |
|
| DX |
19910101 |
|
| FX |
D016116 |
|
| HN |
2013 (1966); use ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
2013; see ABNORMALITIES, MULTIPLE 1975-1990; Waardenburg's Syndrome 1991-2012 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C564684 http://purl.bioontology.org/ontology/MESH/C535334 http://purl.bioontology.org/ontology/MESH/C536465 http://purl.bioontology.org/ontology/MESH/C536464 http://purl.bioontology.org/ontology/MESH/C536467 http://purl.bioontology.org/ontology/MESH/C536463 http://purl.bioontology.org/ontology/MESH/C537769 http://purl.bioontology.org/ontology/MESH/C563839 http://purl.bioontology.org/ontology/MESH/C538657 http://purl.bioontology.org/ontology/MESH/C567679 |
|
| MDA |
19990101 |
|
| MMR |
20190701 |
|
| MN |
C16.131.077.938 |
|
| notation |
D014849 |
|
| prefLabel |
Waardenburg Syndrome |
|
| TERMUI |
T043399 T781534 T800137 T043398 T043397 T805413 T787996 T800138 T781535 T787997 T781536 T830001 T781537 T043396 T824550 |
|
| TH |
OMIM (2013) NLM (1991) NLM (2012) NLM (2013) GHR (2014) NLM (1964) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |