loading...| Preferred Name |
trichorhinophalangeal syndrome type I |
| Synonyms |
trichorhinophalangeal syndrome, type I type I trichorhinophalangeal syndrome Sugio-Kajii syndrome Giedion syndrome type III trichorhinophalangeal syndrome trichorhinophalangeal syndrome, type 1 TRPS 1 trichorhinophalangeal dysplasia type I trichorhinophalangeal syndrome type 1 trichorhinophalangeal syndrome type I TRPS1 |
| Definitions |
An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0008596 |
| database_cross_reference |
DOID:14743 OMIM:190350 NCIT:C75109 MESH:C536820 ICD9:759.89 GARD:0007800 SCTID:254091006 |
| definition |
An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature. |
| exactMatch |
http://purl.obolibrary.org/obo/DOID_14743 http://purl.obolibrary.org/obo/NCIT_C75109 |
| has_exact_synonym |
type I trichorhinophalangeal syndrome Sugio-Kajii syndrome type III trichorhinophalangeal syndrome trichorhinophalangeal syndrome type I |
| has_related_synonym |
trichorhinophalangeal syndrome, type I Giedion syndrome trichorhinophalangeal syndrome, type 1 TRPS 1 trichorhinophalangeal dysplasia type I trichorhinophalangeal syndrome type 1 TRPS1 |
| IAO_0000233 | |
| id |
MONDO:0008596 |
| label |
trichorhinophalangeal syndrome type I |
| notation |
MONDO:0008596 |
| prefLabel |
trichorhinophalangeal syndrome type I |
| treeView | |
| subClassOf |