loading...| Preferred Name |
Focal Dermal Hypoplasia |
|
| Synonyms |
Syndrome, Goltz's |
|
| Definitions |
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D005489 |
|
| altLabel |
Syndrome, Goltz's Goltz Syndrome Dermal Hypoplasias, Focal Dermal Hypoplasia, Focal Syndrome, Goltz Goltzs Syndrome Gorlin Syndrome, Goltz Hypoplasia, Focal Dermal Goltz's Syndrome Hypoplasias, Focal Dermal Goltz-Gorlin Syndrome Syndrome, Goltz-Gorlin Goltz Gorlin Syndrome Syndrome, Goltz Gorlin Focal Dermal Hypoplasias |
|
| AN |
do not confuse entry term GOLTZ-GORLIN SYNDROME with GORLIN-GOLTZ SYNDROME see BASAL CELL NEVUS SYNDROME |
|
| 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 |
C0016395 |
|
| DC |
1 |
|
| definition |
A genetic skin disease characterized by hypoplasia of the dermis, herniations of fat, and hand anomalies. It is found exclusively in females and transmitted as an X-linked dominant trait. |
|
| DX |
19910101 |
|
| HN |
91(85); was see under ECTODERMAL DYSPLASIA 1987-90, was see under ECTODERMAL DEFECT, CONGENITAL 1985-86; GOLTZ-GORLIN SYNDROME was see FOCAL DERMAL HYPOPLASIA 1985-92 |
|
| 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 |
|
| Machine permutation |
91; was see under ECTODERMAL DYSPLASIA 1987-90, was see under ECTODERMAL DEFECT, CONGENITAL 1985-86; GOLTZ-GORLIN SYNDROME was see FOCAL DERMAL HYPOPLASIA 1985-92 |
|
| MDA |
19840405 |
|
| MMR |
20150618 |
|
| MN |
C16.131.077.350.424 C16.320.850.250.424 C16.320.322.186 C17.800.804.350.424 C16.131.831.350.424 C17.800.827.250.424 C05.116.099.370.380 |
|
| notation |
D005489 |
|
| OL |
use FOCAL DERMAL HYPOPLASIA to search GOLTZ-GORLIN SYNDROME 1985-92 |
|
| prefLabel |
Focal Dermal Hypoplasia |
|
| TERMUI |
T016701 T747751 T747752 T016702 T016703 T016704 |
|
| TH |
OMIM (2013) NLM (1993) UNK (19XX) NLM (1985) NLM (2010) GHR (2014) ORD (2010) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D004476 |