| Metadata | |
|---|---|
| ID | DOID:14743 |
| Name | trichorhinophalangeal syndrome type I |
| Definition | A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258, http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1, http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:239016009 |
| Alternateids |
DOID:0050552 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
Trichorhinophalangeal dysplasia type I [RELATED] trichorhinophalangeal syndrome type 1 [EXACT] type I trichorhinophalangeal syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |