autosomal dominant disease trichorhinophalangeal syndrome type I https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6749 https://github.com/monarch-initiative/mondo/issues/7693 https://www.malacards.org/card/trichorhinophalangeal_syndrome_type_i_2 MESH:C536820 ICD9:759.89 TRPS 1 GARD:0007800 trichorhinophalangeal syndrome type 1 OMIM:190350 trichorhinophalangeal syndrome type I DOID:14743 MONDO:0008596 NCIT:C75109 Orphanet:77258 NORD:1787 trichorhinophalangeal dysplasia (syndrome) types 1/3 type III trichorhinophalangeal syndrome MEDGEN:140929 TRPS1 trichorhinophalangeal syndrome, type 1 SCTID:254091006 Giedion syndrome UMLS:C0432233 trichorhinophalangeal dysplasia types 1/3 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. trichorhinophalangeal syndrome, type I Sugio-Kajii syndrome trichorhinophalangeal dysplasia type I trichorhinophalangeal syndrome Trichorhinophalangeal syndrome type 1 and 3