loading...| Preferred Name |
Aarskog Syndrome |
| Synonyms |
Faciodigitogenital Syndrome, Recessive |
| ID |
http://purl.bioontology.org/ontology/MESH/C535331 |
| altLabel |
Faciodigitogenital Syndrome, Recessive Aarskog Disease Aarskog-Scott Syndrome Facio-Digito-Genital Dysplasia Aarskog-Like Syndrome Scott Aarskog Syndrome Faciodigitogenital Syndrome Faciogenital Dysplasia Kuwait Type Faciodigitogenital Syndrome |
| cui |
C0175701 C1856871 |
| Has mapping qualifier | |
| HM |
D006330 D040181 D005145/Q000002 D004392 D005837/Q000002 D006228 |
| Inverse of RB |
0 |
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D040181 http://purl.bioontology.org/ontology/MESH/D005837 http://purl.bioontology.org/ontology/MESH/D005145 http://purl.bioontology.org/ontology/MESH/D006330 |
| MDA |
20100625 |
| MeSH Frequency |
21 |
| 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 |
T844629 T844630 T807004 T844607 T807005 T844628 T844606 T807003 T840807 T844631 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |