loading...| Preferred Name |
Aarskog Syndrome |
|
| Synonyms |
Faciodigitogenital Syndrome |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535331 |
|
| altLabel |
Faciodigitogenital Syndrome Faciodigitogenital Syndrome, Recessive Aarskog-Like Syndrome Aarskog-Scott Syndrome Aarskog Disease Facio-Digito-Genital Dysplasia Faciogenital Dysplasia Scott Aarskog Syndrome Kuwait Type Faciodigitogenital Syndrome |
|
| cui |
C1856871 C0175701 |
|
| Has mapping qualifier | ||
| HM |
D006228 D005837/Q000002 D040181 D004392 D006330 D005145/Q000002 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D004392 http://purl.bioontology.org/ontology/MESH/D005145 http://purl.bioontology.org/ontology/MESH/D006228 |
|
| MDA |
20100625 |
|
| MeSH Frequency |
30 |
|
| MMR |
20150817 |
|
| notation |
C535331 |
|
| prefLabel |
Aarskog Syndrome |
|
| SC |
3 |
|
| Scope Statement |
An X-linked recessive disorder with wide phenotypic variability characterized by short stature, HYPERTELORISM, shawl scrotum, and BRACHYDACTYLY. Other features, such as joint hyperextensibility, short nose, widow's peak, and INGUINAL HERNIA, may also occur. Most patients do not have intellectual disability, but some may have neurobehavioral features. Carrier females may present with subtle features. Mutations in the FGD1 gene have been identified. OMIM: 305400. Aarskog-like syndrome is a similar autosomal recessive disorder. OMIM: 227330 |
|
| TERMUI |
T844630 T844631 T844628 T844629 T840807 T807005 T844607 T807004 T807003 T844606 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |